GPCRの疾患関連遺伝子変異

Disease-associated GPCR variants word cloud

当社カタログに掲載しているGPCRを中心に、疾患関連が示唆されている遺伝子変異をNCBI ClinVarデータベースから抽出しました。Clinical significanceのパラメータを 'pathological', "likely pathological", "drug response"に設定した結果です。

2022年6月13日追記：IUPHAR/BPS Guide to Pharmacologyに掲載されている全415受容体に対象を広げ再検索しました。

Symbol	Variation name	Variant type	Condition	Synonyms
HTR2C	NM_000868.4(HTR2C):c.1219_1222del (p.Ser407fs)	deletion	Inborn genetic diseases	5-HT_1C\|5-HT2C\|HTR1C\|5-HTR2C\|5-hydroxytryptamine receptor 1C\|serotonin 1c receptor\|serotonin receptor 2C\|5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled
CHRM3	NM_001375978.1(CHRM3):c.1173_1184delinsT (p.Pro392fs)	indel	Prune belly	HM4\|Chrm-3\|M3R\|cholinergic receptor, muscarinic 3\|cholinergic receptor\|cholinergic receptor, muscarinic 3, cardiac
CHRM3	NM_001375978.1(CHRM3):c.352G>A (p.Gly118Arg)	single nucleotide variant	Prune belly	HM4\|Chrm-3\|M3R\|cholinergic receptor, muscarinic 3\|cholinergic receptor\|cholinergic receptor, muscarinic 3, cardiac
ADRA2C	NM_000683.4(ADRA2C):c.971_982del (p.Gly324_Ala327del)	deletion	Congestive heart failure and beta-blocker response, modifier of	α₂-C4\|ADRA2L2\|ADRA2RL2\|Adrenergic alpha2C- receptor class I\|alpha-2 adrenergic receptor subtype C4\|alpha-2C adrenergic receptor\|alpha-2C adrenoreceptor\|Adra-2c\|adrenergic receptor
ADRB1	NM_000684.3(ADRB1):c.1165G>C (p.Gly389Arg)	single nucleotide variant	Congestive heart failure and beta-blocker response, modifier of	ADRB1R\|Adrenergic receptor beta 1\|B1AR\|beta-1 adrenergic receptor\|beta-1 adrenoreceptor\|Adrb-1\|beta 1-AR\|adrenergic receptor
ADRB2	NM_000024.6(ADRB2):c.46G>A (p.Gly16Arg)	single nucleotide variant	salmeterol response - Efficacy	ADRB2R\|ADRBR\|B2AR\|beta-2 adrenergic receptor\|beta-2 adrenoreceptor\|Adrb-2\|beta 2-AR\|Gpcr7\|adrenoceptor beta 2, surface\|adrenergic receptor
ADRB2	NM_000024.6(ADRB2):c.491C>T (p.Thr164Ile)	single nucleotide variant	Beta-2-adrenoreceptor agonist, reduced response to	ADRB2R\|ADRBR\|B2AR\|beta-2 adrenergic receptor\|beta-2 adrenoreceptor\|Adrb-2\|beta 2-AR\|Gpcr7\|adrenoceptor beta 2, surface\|adrenergic receptor
C3AR1	NM_004054.4(C3AR1):c.355_356dup (p.Asp119fs)	duplication	AHUS, SUSCEPTIBILITY TO, 1	C3AR\|C3a anaphylatoxin chemotactic receptor\|C3a-R\|anaphylatoxin C3a receptor\|complement component 3a receptor 1
AGTR1	NM_000685.5(AGTR1):c.376C>T (p.Arg126Ter)	single nucleotide variant	Renal tubular dysgenesis	AG2S\|AT2R1\|AT2R1A\|HAT1R\|Agtr1\|angiotensin II type-1 receptor\|angiotensin II type-1A receptor\|angiotensin II type-1B receptor\|AT3\|type-1A angiotensin II receptor\|type-1B angiotensin II receptor\|vascular type-1 angiotensin II receptor\|AT1BR\|Agtr-1b\|Angtr-1b\|Angtr-1a\|AT1AR\|Type-1 angiotensin II receptor\|Agtr-1a\|angiotensin II receptor, type 1\|angiotensin II receptor, type 1a\|angiotensin II receptor, type 1b\|angiotensin II receptor
AGTR1	NM_000685.5(AGTR1):c.845C>T (p.Thr282Met)	single nucleotide variant	Renal tubular dysgenesis	AG2S\|AT2R1\|AT2R1A\|HAT1R\|Agtr1\|angiotensin II type-1 receptor\|angiotensin II type-1A receptor\|angiotensin II type-1B receptor\|AT3\|type-1A angiotensin II receptor\|type-1B angiotensin II receptor\|vascular type-1 angiotensin II receptor\|AT1BR\|Agtr-1b\|Angtr-1b\|Angtr-1a\|AT1AR\|Type-1 angiotensin II receptor\|Agtr-1a\|angiotensin II receptor, type 1\|angiotensin II receptor, type 1a\|angiotensin II receptor, type 1b\|angiotensin II receptor
AGTR1	NM_000685.5(AGTR1):c.419G>A (p.Arg140His)	single nucleotide variant	Essential hypertension, genetic	AG2S\|AT2R1\|AT2R1A\|HAT1R\|Agtr1\|angiotensin II type-1 receptor\|angiotensin II type-1A receptor\|angiotensin II type-1B receptor\|AT3\|type-1A angiotensin II receptor\|type-1B angiotensin II receptor\|vascular type-1 angiotensin II receptor\|AT1BR\|Agtr-1b\|Angtr-1b\|Angtr-1a\|AT1AR\|Type-1 angiotensin II receptor\|Agtr-1a\|angiotensin II receptor, type 1\|angiotensin II receptor, type 1a\|angiotensin II receptor, type 1b\|angiotensin II receptor
AGTR1	NM_000685.5(AGTR1):c.233del (p.Leu78fs)	deletion	Essential hypertension, genetic	AG2S\|AT2R1\|AT2R1A\|HAT1R\|Agtr1\|angiotensin II type-1 receptor\|angiotensin II type-1A receptor\|angiotensin II type-1B receptor\|AT3\|type-1A angiotensin II receptor\|type-1B angiotensin II receptor\|vascular type-1 angiotensin II receptor\|AT1BR\|Agtr-1b\|Angtr-1b\|Angtr-1a\|AT1AR\|Type-1 angiotensin II receptor\|Agtr-1a\|angiotensin II receptor, type 1\|angiotensin II receptor, type 1a\|angiotensin II receptor, type 1b\|angiotensin II receptor
AGTR1	NM_000685.5(AGTR1):c.879del (p.Phe293fs)	deletion	Renal tubular dysgenesis	AG2S\|AT2R1\|AT2R1A\|HAT1R\|Agtr1\|angiotensin II type-1 receptor\|angiotensin II type-1A receptor\|angiotensin II type-1B receptor\|AT3\|type-1A angiotensin II receptor\|type-1B angiotensin II receptor\|vascular type-1 angiotensin II receptor\|AT1BR\|Agtr-1b\|Angtr-1b\|Angtr-1a\|AT1AR\|Type-1 angiotensin II receptor\|Agtr-1a\|angiotensin II receptor, type 1\|angiotensin II receptor, type 1a\|angiotensin II receptor, type 1b\|angiotensin II receptor
AGTR1	NM_000685.5(AGTR1):c.110dup (p.Ile38fs)	duplication	Renal tubular dysgenesis	AG2S\|AT2R1\|AT2R1A\|HAT1R\|Agtr1\|angiotensin II type-1 receptor\|angiotensin II type-1A receptor\|angiotensin II type-1B receptor\|AT3\|type-1A angiotensin II receptor\|type-1B angiotensin II receptor\|vascular type-1 angiotensin II receptor\|AT1BR\|Agtr-1b\|Angtr-1b\|Angtr-1a\|AT1AR\|Type-1 angiotensin II receptor\|Agtr-1a\|angiotensin II receptor, type 1\|angiotensin II receptor, type 1a\|angiotensin II receptor, type 1b\|angiotensin II receptor
CASR	NM_000388.4(CASR):c.393C>G (p.Cys131Trp)	single nucleotide variant	Hypocalcemia, autosomal dominant 1, with bartter syndrome	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2528C>A (p.Ala843Glu)	single nucleotide variant	Hypocalcemia, autosomal dominant 1, with bartter syndrome	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.186-1G>T	single nucleotide variant	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1942C>T (p.Arg648Ter)	single nucleotide variant	Inborn genetic diseases	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2641T>C (p.Phe881Leu)	single nucleotide variant	Hypercalcemia, familial benign type 1	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2682_3224del (p.Ser895_Val1075del)	deletion	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1846C>G (p.Leu616Val)	single nucleotide variant	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.141A>C (p.Lys47Asn)	single nucleotide variant	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.108del (p.Leu37fs)	deletion	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.553C>T (p.Arg185Ter)	single nucleotide variant	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2656C>T (p.Arg886Trp)	single nucleotide variant	Autosomal dominant hypocalcemia 1	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.346G>A (p.Ala116Thr)	single nucleotide variant	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2010_2011del (p.Glu671fs)	deletion	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1589G>A (p.Trp530Ter)	single nucleotide variant	Hypocalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1378-1G>C	single nucleotide variant	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.186-2A>G	single nucleotide variant	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1759dup (p.Asp587fs)	duplication	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1557_1560del (p.Glu519fs)	deletion	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2363T>G (p.Phe788Cys)	single nucleotide variant	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2459C>T (p.Ser820Phe)	single nucleotide variant	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1394G>A (p.Arg465Gln)	single nucleotide variant	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1810G>A (p.Glu604Lys)	single nucleotide variant	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2241_2242delinsT (p.Pro748fs)	indel	Neonatal severe primary hyperparathyroidism	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1745G>A (p.Cys582Tyr)	single nucleotide variant	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.680G>T (p.Arg227Leu)	single nucleotide variant	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	CASR, ALU INS, CODON 877	insertion	Neonatal severe primary hyperparathyroidism	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.380A>C (p.Glu127Ala)	single nucleotide variant	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.554G>A (p.Arg185Gln)	single nucleotide variant	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.889G>A (p.Glu297Lys)	single nucleotide variant	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2383C>T (p.Arg795Trp)	single nucleotide variant	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.680G>A (p.Arg227Gln)	single nucleotide variant	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.413C>T (p.Thr138Met)	single nucleotide variant	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.428G>A (p.Gly143Glu)	single nucleotide variant	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.185G>T (p.Arg62Met)	single nucleotide variant	Hypercalcemia, familial benign type 1	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1657G>A (p.Gly553Arg)	single nucleotide variant	Hypercalcemia, familial benign type 1	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1745G>T (p.Cys582Phe)	single nucleotide variant	Hypercalcemia, familial benign type 1	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.539T>G (p.Phe180Cys)	single nucleotide variant	Hypercalcemia, familial benign type 1	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2180T>A (p.Leu727Gln)	single nucleotide variant	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.38T>C (p.Leu13Pro)	single nucleotide variant	Hypercalcemia, familial benign type 1	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2030del (p.Cys677fs)	deletion	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.280G>T (p.Gly94Ter)	single nucleotide variant	Neonatal severe primary hyperparathyroidism	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1525G>A (p.Gly509Arg)	single nucleotide variant	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.528del (p.Asn176fs)	deletion	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1852del (p.Leu618fs)	deletion	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2533_2545del (p.Ser845fs)	deletion	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2429G>A (p.Ser810Asn)	single nucleotide variant	Autosomal dominant hypocalcemia 1	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2531C>T (p.Ala844Val)	single nucleotide variant	Inborn genetic diseases	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1661T>C (p.Ile554Thr)	single nucleotide variant	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2516T>C (p.Ile839Thr)	single nucleotide variant	Neurodevelopmental disorder	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1525G>C (p.Gly509Arg)	single nucleotide variant	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2254del (p.Arg752fs)	deletion	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2297_2298dup (p.Glu767fs)	duplication	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2415del (p.Lys805fs)	deletion	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NC_000003.11:g.(?_121973037)_(122004038_?)del	deletion	Autosomal dominant hypocalcemia 1	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.91dup (p.Asp31fs)	duplication	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.209G>A (p.Trp70Ter)	single nucleotide variant	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1868del (p.Gly623fs)	deletion	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1081C>T (p.Gln361Ter)	single nucleotide variant	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.547_548del (p.Phe183fs)	deletion	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1773_1774del (p.Ser591_Asn592insTer)	deletion	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.924_925dup (p.Gln309fs)	duplication	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1054del (p.Trp352fs)	deletion	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1783del (p.His595fs)	deletion	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2506G>T (p.Val836Leu)	single nucleotide variant	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.379G>A (p.Glu127Lys)	single nucleotide variant	Autosomal dominant hypocalcemia 1	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2008G>C (p.Gly670Arg)	single nucleotide variant	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.386G>A (p.Cys129Tyr)	single nucleotide variant	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.493-2A>C	single nucleotide variant	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1802del (p.Lys601fs)	deletion	Autosomal dominant hypocalcemia 1	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.961_962del (p.Ala321fs)	deletion	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2148dup (p.Lys717fs)	duplication	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2043G>T (p.Gln681His)	single nucleotide variant	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1542T>G (p.Tyr514Ter)	single nucleotide variant	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.357_358del (p.Lys119fs)	deletion	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.384C>G (p.Phe128Leu)	single nucleotide variant	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.112_113insC (p.Phe38fs)	insertion	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1377+1G>T	single nucleotide variant	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1672dup (p.Glu558fs)	duplication	Hypercalcemia, familial benign type 1	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.157T>C (p.Ser53Pro)	single nucleotide variant	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2156G>A (p.Trp719Ter)	single nucleotide variant	Hypercalcemia, familial benign type 1	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.139A>G (p.Lys47Glu)	single nucleotide variant	Familial hypocalciuric hypercalcemia 1	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1983C>A (p.Cys661Ter)	single nucleotide variant	Autosomal dominant hypocalcemia 1	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1A>G (p.Met1Val)	single nucleotide variant	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.666del (p.Ile223fs)	deletion	Autosomal dominant hypocalcemia 1	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.349C>T (p.Gln117Ter)	single nucleotide variant	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.653A>G (p.Tyr218Cys)	single nucleotide variant	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1898_1932dup (p.Ala645fs)	duplication	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1377+2T>A	single nucleotide variant	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	Single allele	insertion	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2008G>A (p.Gly670Arg)	single nucleotide variant	Autosomal dominant hypocalcemia 1	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.452C>T (p.Thr151Met)	single nucleotide variant	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1676C>A (p.Pro559His)	single nucleotide variant	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2405A>G (p.Asn802Ser)	single nucleotide variant	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1744T>A (p.Cys582Ser)	single nucleotide variant	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.380A>G (p.Glu127Gly)	single nucleotide variant	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1685G>C (p.Cys562Ser)	single nucleotide variant	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1685_1686delinsCT (p.Cys562Ser)	indel	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1884del (p.Phe629fs)	deletion	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1934C>A (p.Ala645Asp)	single nucleotide variant	Familial hypoparathyroidism	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2014C>A (p.Pro672Thr)	single nucleotide variant	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2435T>C (p.Leu812Pro)	single nucleotide variant	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2489G>A (p.Gly830Asp)	single nucleotide variant	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NC_000003.12:g.(?_122282103)_(122285191_?)del	deletion	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2644A>T (p.Lys882Ter)	single nucleotide variant	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.73C>T (p.Arg25Ter)	single nucleotide variant	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.643G>C (p.Asp215His)	single nucleotide variant	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.974G>A (p.Gly325Glu)	single nucleotide variant	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.662C>T (p.Pro221Leu)	single nucleotide variant	Autosomal dominant hypocalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.662C>A (p.Pro221Gln)	single nucleotide variant	Hypercalcemia, familial benign type 1	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.85A>G (p.Lys29Glu)	single nucleotide variant	Hypocalcemia, autosomal dominant 1, with bartter syndrome	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2482A>C (p.Thr828Pro)	single nucleotide variant	Autosomal dominant hypocalcemia 1	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2039G>A (p.Arg680His)	single nucleotide variant	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.427G>A (p.Gly143Arg)	single nucleotide variant	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.166G>T (p.Glu56Ter)	single nucleotide variant	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2417T>C (p.Phe806Ser)	single nucleotide variant	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.554del (p.Arg185fs)	deletion	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1670G>A (p.Gly557Glu)	single nucleotide variant	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2362T>C (p.Phe788Leu)	single nucleotide variant	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.448_449dup (p.Thr151fs)	microsatellite	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.354C>A (p.Asn118Lys)	single nucleotide variant	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.503C>T (p.Ala168Val)	single nucleotide variant	Familial hypocalciuric hypercalcemia 1	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.382T>C (p.Phe128Leu)	single nucleotide variant	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.571G>A (p.Glu191Lys)	single nucleotide variant	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2318T>G (p.Leu773Arg)	single nucleotide variant	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2009G>A (p.Gly670Glu)	single nucleotide variant	Neonatal severe primary hyperparathyroidism	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.115C>G (p.Pro39Ala)	single nucleotide variant	Hypercalcemia, familial benign type 1	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1512_1515del (p.Phe505fs)	deletion	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.166del (p.Glu56fs)	deletion	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2657G>C (p.Arg886Pro)	single nucleotide variant	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.733C>T (p.Gln245Ter)	single nucleotide variant	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.164_165delinsTT (p.Pro55Leu)	indel	Autosomal dominant hypocalcemia 1	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1835T>C (p.Phe612Ser)	single nucleotide variant	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2393C>T (p.Pro798Leu)	single nucleotide variant	Autosomal dominant hypocalcemia 1	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2038C>T (p.Arg680Cys)	single nucleotide variant	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1652G>A (p.Arg551Lys)	single nucleotide variant	Autosomal dominant hypocalcemia 1	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1972del (p.Leu658fs)	deletion	Familial benign hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.2244delinsCC (p.Ser749fs)	indel	Hypercalcemia, familial benign type 1	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.384C>A (p.Phe128Leu)	single nucleotide variant	Inborn genetic diseases	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.679C>T (p.Arg227Ter)	single nucleotide variant	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.1609-2A>G	single nucleotide variant	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.197G>A (p.Arg66His)	single nucleotide variant	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.199delinsTTCGCT (p.Gly67fs)	indel	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.396_410del (p.Glu133_Ser137del)	deletion	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.532A>G (p.Asn178Asp)	single nucleotide variant	HYPOCALCEMIA, FAMILIAL	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CASR	NM_000388.4(CASR):c.493-2A>G	single nucleotide variant	Familial hypocalciuric hypercalcemia	CaR\|GPRC2A\|extracellular calcium-sensing receptor\|divalent cation-sensing receptor\|calcium-sensing receptor
CXCR2	NM_001557.4(CXCR2):c.623G>A (p.Arg208Gln)	single nucleotide variant	WHIM syndrome 2	IL8R_B\|IL-8R2\|KC receptor\|CD182\|CXC-R2\|GRO/MGSA receptor\|high affinity interleukin-8 receptor B\|CD128\|Gpcr16\|chemokine (C-X-C motif) receptor 2
CXCR2	NM_001557.4(CXCR2):c.968del (p.His323fs)	deletion	WHIM syndrome 2	IL8R_B\|IL-8R2\|KC receptor\|CD182\|CXC-R2\|GRO/MGSA receptor\|high affinity interleukin-8 receptor B\|CD128\|Gpcr16\|chemokine (C-X-C motif) receptor 2
CXCR4	NM_003467.3(CXCR4):c.994G>T (p.Gly332Ter)	single nucleotide variant	WHIM syndrome	fusin\|LCR1\|LESTR\|HM89\|HUMSTSR\|CD184\|NPY3R\|NPYY3R\|CXCR-4\|CXC-R4\|SDF-1 receptor\|stromal cell-derived factor 1 receptor\|Cmkar4\|HSY3RR\|chemokine (C-X-C motif) receptor 4
CXCR4	NM_003467.3(CXCR4):c.1025_1028del (p.Thr342fs)	deletion	Warts, hypogammaglobulinemia, infections, and myelokathexis	fusin\|LCR1\|LESTR\|HM89\|HUMSTSR\|CD184\|NPY3R\|NPYY3R\|CXCR-4\|CXC-R4\|SDF-1 receptor\|stromal cell-derived factor 1 receptor\|Cmkar4\|HSY3RR\|chemokine (C-X-C motif) receptor 4
CXCR4	NM_003467.3(CXCR4):c.1006G>T (p.Gly336Ter)	single nucleotide variant	WHIM syndrome	fusin\|LCR1\|LESTR\|HM89\|HUMSTSR\|CD184\|NPY3R\|NPYY3R\|CXCR-4\|CXC-R4\|SDF-1 receptor\|stromal cell-derived factor 1 receptor\|Cmkar4\|HSY3RR\|chemokine (C-X-C motif) receptor 4
CXCR4	NM_003467.3(CXCR4):c.893_1034dup (p.Glu345_Ser346insProHisProLeuCysPheProTrpSerGlnIleTer)	duplication	WHIM syndrome	fusin\|LCR1\|LESTR\|HM89\|HUMSTSR\|CD184\|NPY3R\|NPYY3R\|CXCR-4\|CXC-R4\|SDF-1 receptor\|stromal cell-derived factor 1 receptor\|Cmkar4\|HSY3RR\|chemokine (C-X-C motif) receptor 4
CXCR4	NM_003467.3(CXCR4):c.950_953del (p.Leu317fs)	deletion	Inherited Immunodeficiency Diseases	fusin\|LCR1\|LESTR\|HM89\|HUMSTSR\|CD184\|NPY3R\|NPYY3R\|CXCR-4\|CXC-R4\|SDF-1 receptor\|stromal cell-derived factor 1 receptor\|Cmkar4\|HSY3RR\|chemokine (C-X-C motif) receptor 4
CXCR4	NM_003467.3(CXCR4):c.1013C>G (p.Ser338Ter)	single nucleotide variant	WARTS, HYPOGAMMAGLOBULINEMIA, INFECTIONS, AND MYELOKATHEXIS SYNDROME 1	fusin\|LCR1\|LESTR\|HM89\|HUMSTSR\|CD184\|NPY3R\|NPYY3R\|CXCR-4\|CXC-R4\|SDF-1 receptor\|stromal cell-derived factor 1 receptor\|Cmkar4\|HSY3RR\|chemokine (C-X-C motif) receptor 4
CXCR4	NM_003467.3(CXCR4):c.1027G>T (p.Glu343Ter)	single nucleotide variant	WARTS, HYPOGAMMAGLOBULINEMIA, INFECTIONS, AND MYELOKATHEXIS SYNDROME 1	fusin\|LCR1\|LESTR\|HM89\|HUMSTSR\|CD184\|NPY3R\|NPYY3R\|CXCR-4\|CXC-R4\|SDF-1 receptor\|stromal cell-derived factor 1 receptor\|Cmkar4\|HSY3RR\|chemokine (C-X-C motif) receptor 4
CXCR4	NM_003467.3(CXCR4):c.1016_1017del (p.Ser339fs)	deletion	WHIM syndrome 1	fusin\|LCR1\|LESTR\|HM89\|HUMSTSR\|CD184\|NPY3R\|NPYY3R\|CXCR-4\|CXC-R4\|SDF-1 receptor\|stromal cell-derived factor 1 receptor\|Cmkar4\|HSY3RR\|chemokine (C-X-C motif) receptor 4
CXCR4	NM_003467.3(CXCR4):c.959_960del (p.Val320fs)	microsatellite	Warts, hypogammaglobulinemia, infections, and myelokathexis	fusin\|LCR1\|LESTR\|HM89\|HUMSTSR\|CD184\|NPY3R\|NPYY3R\|CXCR-4\|CXC-R4\|SDF-1 receptor\|stromal cell-derived factor 1 receptor\|Cmkar4\|HSY3RR\|chemokine (C-X-C motif) receptor 4
CXCR4	NM_003467.3(CXCR4):c.1000C>T (p.Arg334Ter)	single nucleotide variant	WHIM syndrome 1	fusin\|LCR1\|LESTR\|HM89\|HUMSTSR\|CD184\|NPY3R\|NPYY3R\|CXCR-4\|CXC-R4\|SDF-1 receptor\|stromal cell-derived factor 1 receptor\|Cmkar4\|HSY3RR\|chemokine (C-X-C motif) receptor 4
CXCR4	NM_003467.3(CXCR4):c.1013C>A (p.Ser338Ter)	single nucleotide variant	WARTS, HYPOGAMMAGLOBULINEMIA, INFECTIONS, AND MYELOKATHEXIS SYNDROME 1	fusin\|LCR1\|LESTR\|HM89\|HUMSTSR\|CD184\|NPY3R\|NPYY3R\|CXCR-4\|CXC-R4\|SDF-1 receptor\|stromal cell-derived factor 1 receptor\|Cmkar4\|HSY3RR\|chemokine (C-X-C motif) receptor 4
ACKR3	NM_020311.3(ACKR3):c.772G>A (p.Val258Met)	single nucleotide variant	Oculomotor-abducens synkinesis	chemokine (C-X-C motif) receptor 7\|chemokine orphan receptor 1\|CXCR7\|Cxcr7\|GPR159\|G-protein coupled receptor 159\|G-protein coupled receptor RDC1 homolog\|RDC-1
GPR68	NM_001177676.2(GPR68):c.221T>C (p.Leu74Pro)	single nucleotide variant	Amelogenesis imperfecta, hypomaturation type, IIa6	GPR12A\|Ovarian cancer G-protein coupled receptor 1\|sphingosylphosphorylcholine receptor\|OGR1
GPR68	NM_001177676.2(GPR68):c.386_835del (p.Phe129_Asn278del)	deletion	Amelogenesis imperfecta, hypomaturation type, IIa6	GPR12A\|Ovarian cancer G-protein coupled receptor 1\|sphingosylphosphorylcholine receptor\|OGR1
GPR68	NM_001177676.2(GPR68):c.667_668del (p.Lys223fs)	deletion	Amelogenesis imperfecta, hypomaturation type, IIa6	GPR12A\|Ovarian cancer G-protein coupled receptor 1\|sphingosylphosphorylcholine receptor\|OGR1
GPR68	NM_001177676.2(GPR68):c.78_83delinsC (p.Val27fs)	indel	Amelogenesis imperfecta	GPR12A\|Ovarian cancer G-protein coupled receptor 1\|sphingosylphosphorylcholine receptor\|OGR1
GPR88	NM_022049.3(GPR88):c.873C>A (p.Cys291Ter)	single nucleotide variant	Chorea, childhood-onset, with psychomotor retardation	STRG\|striatum-specific G-protein coupled receptor
GPR153	NM_207370.4(GPR153):c.217C>T (p.Arg73Cys)	single nucleotide variant	Childhood-Onset Schizophrenia	PGR1
LGR4	NM_018490.5(LGR4):c.286A>G (p.Ile96Val)	single nucleotide variant	DELAYED PUBERTY, SELF-LIMITED	GPR48\|leucine-rich repeat-containing G protein-coupled receptor 4\|leucine-rich repeat containing G protein-coupled receptor 4
LGR4	NM_018490.5(LGR4):c.2531A>G (p.Asp844Gly)	single nucleotide variant	DELAYED PUBERTY, SELF-LIMITED	GPR48\|leucine-rich repeat-containing G protein-coupled receptor 4\|leucine-rich repeat containing G protein-coupled receptor 4
LGR4	NM_018490.5(LGR4):c.1087G>T (p.Gly363Cys)	single nucleotide variant	DELAYED PUBERTY, SELF-LIMITED	GPR48\|leucine-rich repeat-containing G protein-coupled receptor 4\|leucine-rich repeat containing G protein-coupled receptor 4
LPAR6	LPAR6, 4-BP INS, 69CATG	insertion	Autosomal recessive woolly hair 1, with or without hypotrichosis	P2RY5\|LPA receptor 6\|oleoyl-L-alpha-lysophosphatidic acid receptor\|P2Y purinoceptor 5\|purinergic receptor 5
LPAR6	LPAR6, 2-BP DEL, 373AA	deletion	Woolly hair, autosomal recessive 1	P2RY5\|LPA receptor 6\|oleoyl-L-alpha-lysophosphatidic acid receptor\|P2Y purinoceptor 5\|purinergic receptor 5
P2RY8	NM_178129.5(P2RY8):c.869C>G (p.Pro290Arg)	single nucleotide variant	Multiple myeloma	G-protein coupled purinergic receptor P2Y8\|P2Y purinoceptor 8\|purinergic receptor P2Y8
ADGRB2	NM_001364857.2(ADGRB2):c.4393C>T (p.Arg1465Trp)	single nucleotide variant	Progressive spastic paraparesis	BAI2\|brain-specific angiogenesis inhibitor 2
ADGRB3	NM_001704.3(ADGRB3):c.4298G>A (p.Arg1433Lys)	single nucleotide variant	Short stature	BAI3\|brain-specific angiogenesis inhibitor 3
ADGRB3	NM_001704.3(ADGRB3):c.2294T>C (p.Val765Ala)	single nucleotide variant	Short stature	BAI3\|brain-specific angiogenesis inhibitor 3
CELSR1	NM_001378328.1(CELSR1):c.2042del (p.Asn681fs)	deletion	Lymphatic malformation	crash\|ADGRC1 (adhesion G protein-coupled receptor C1)
CELSR1	NM_001378328.1(CELSR1):c.868G>T (p.Glu290Ter)	single nucleotide variant	Lymphatic malformation	crash\|ADGRC1 (adhesion G protein-coupled receptor C1)
CELSR1	NM_001378328.1(CELSR1):c.6739+1G>A	single nucleotide variant	Lymphatic malformation	crash\|ADGRC1 (adhesion G protein-coupled receptor C1)
CELSR1	NM_001378328.1(CELSR1):c.5226+2T>A	single nucleotide variant	Lymphatic malformation	crash\|ADGRC1 (adhesion G protein-coupled receptor C1)
CELSR1	NM_001378328.1(CELSR1):c.5702-1G>C	single nucleotide variant	Lymphatic malformation	crash\|ADGRC1 (adhesion G protein-coupled receptor C1)
CELSR1	NM_001378328.1(CELSR1):c.5121dup (p.Ile1708fs)	duplication	Lymphatic malformation 9	crash\|ADGRC1 (adhesion G protein-coupled receptor C1)
CELSR1	NM_001378328.1(CELSR1):c.5871G>A (p.Trp1957Ter)	single nucleotide variant	Lymphatic malformation 9	crash\|ADGRC1 (adhesion G protein-coupled receptor C1)
CELSR2	NM_001408.3(CELSR2):c.8235_8246dup (p.Glu2749_Glu2752dup)	duplication	OFDS III	ADGRC2 (adhesion G protein-coupled receptor C2)\|MEGF3\|multiple epidermal growth factor-like domains 3
CELSR2	NM_001408.3(CELSR2):c.3830C>T (p.Pro1277Leu)	single nucleotide variant	Global developmental delay	ADGRC2 (adhesion G protein-coupled receptor C2)\|MEGF3\|multiple epidermal growth factor-like domains 3
CELSR2	NM_001408.3(CELSR2):c.2858A>G (p.Asn953Ser)	single nucleotide variant	Tracheoesophageal fistula	ADGRC2 (adhesion G protein-coupled receptor C2)\|MEGF3\|multiple epidermal growth factor-like domains 3
ADGRE2	NM_013447.4(ADGRE2):c.1475G>A (p.Cys492Tyr)	single nucleotide variant	Vibratory urticaria	EMR2 (EGF-like module-containing, mucin-like, hormone receptor-like 2)\|CD312 (cluster of differentiation 312)
ADGRG1	NM_201525.4(ADGRG1):c.1167+3G>C	single nucleotide variant	Bilateral frontoparietal polymicrogyria	BFPP\|GPR56 (G-protein coupled receptor 56)\|Cyt28
ADGRG1	NM_201525.4(ADGRG1):c.1850G>C (p.Trp617Ser)	single nucleotide variant	Bilateral frontoparietal polymicrogyria	BFPP\|GPR56 (G-protein coupled receptor 56)\|Cyt28
ADGRG1	NM_201525.4(ADGRG1):c.1352A>G (p.Asp451Gly)	single nucleotide variant	Inborn genetic diseases	BFPP\|GPR56 (G-protein coupled receptor 56)\|Cyt28
ADGRG1	NM_201525.4(ADGRG1):c.1925C>T (p.Ser642Phe)	single nucleotide variant	Bilateral frontoparietal polymicrogyria	BFPP\|GPR56 (G-protein coupled receptor 56)\|Cyt28
ADGRG1	NM_201525.4(ADGRG1):c.768G>C (p.Glu256Asp)	single nucleotide variant	Bilateral frontoparietal polymicrogyria	BFPP\|GPR56 (G-protein coupled receptor 56)\|Cyt28
ADGRG1	NM_201525.4(ADGRG1):c.620+1G>A	single nucleotide variant	Bilateral frontoparietal polymicrogyria	BFPP\|GPR56 (G-protein coupled receptor 56)\|Cyt28
ADGRG1	NM_201525.4(ADGRG1):c.10C>T (p.Gln4Ter)	single nucleotide variant	Bilateral frontoparietal polymicrogyria	BFPP\|GPR56 (G-protein coupled receptor 56)\|Cyt28
ADGRG1	NM_201525.4(ADGRG1):c.272G>C (p.Cys91Ser)	single nucleotide variant	Bilateral frontoparietal polymicrogyria	BFPP\|GPR56 (G-protein coupled receptor 56)\|Cyt28
ADGRG1	NM_201525.4(ADGRG1):c.1408C>T (p.Arg470Ter)	single nucleotide variant	Polymicrogyria, bilateral perisylvian, autosomal recessive	BFPP\|GPR56 (G-protein coupled receptor 56)\|Cyt28
ADGRG1	NM_201525.4(ADGRG1):c.1583dup (p.Ala529fs)	duplication	Global developmental delay	BFPP\|GPR56 (G-protein coupled receptor 56)\|Cyt28
ADGRG1	NM_201525.4(ADGRG1):c.621-1G>C	single nucleotide variant	Bilateral frontoparietal polymicrogyria	BFPP\|GPR56 (G-protein coupled receptor 56)\|Cyt28
ADGRG1	NM_201525.4(ADGRG1):c.1515T>G (p.Tyr505Ter)	single nucleotide variant	Bilateral frontoparietal polymicrogyria	BFPP\|GPR56 (G-protein coupled receptor 56)\|Cyt28
ADGRG1	NM_201525.4(ADGRG1):c.265C>T (p.His89Tyr)	single nucleotide variant	Bilateral frontoparietal polymicrogyria	BFPP\|GPR56 (G-protein coupled receptor 56)\|Cyt28
ADGRG1	NM_201525.4(ADGRG1):c.1036T>A (p.Cys346Ser)	single nucleotide variant	Bilateral frontoparietal polymicrogyria	BFPP\|GPR56 (G-protein coupled receptor 56)\|Cyt28
ADGRG1	NM_201525.4(ADGRG1):c.112C>T (p.Arg38Trp)	single nucleotide variant	Bilateral frontoparietal polymicrogyria	BFPP\|GPR56 (G-protein coupled receptor 56)\|Cyt28
ADGRG1	NM_201525.4(ADGRG1):c.263A>G (p.Tyr88Cys)	single nucleotide variant	Bilateral frontoparietal polymicrogyria	BFPP\|GPR56 (G-protein coupled receptor 56)\|Cyt28
ADGRG1	NM_201525.4(ADGRG1):c.1141C>T (p.His381Tyr)	single nucleotide variant	CEREBELLAR ATAXIA WITH NEURONAL MIGRATION DEFECT	BFPP\|GPR56 (G-protein coupled receptor 56)\|Cyt28
ADGRG1	NM_201525.4(ADGRG1):c.-36+10587_-36+10601del	microsatellite	Polymicrogyria, bilateral perisylvian, autosomal recessive	BFPP\|GPR56 (G-protein coupled receptor 56)\|Cyt28
ADGRG1	NM_201525.4(ADGRG1):c.1490T>C (p.Leu497Pro)	single nucleotide variant	CEREBELLAR ATAXIA WITH NEURONAL MIGRATION DEFECT	BFPP\|GPR56 (G-protein coupled receptor 56)\|Cyt28
ADGRG1	NM_201525.4(ADGRG1):c.898C>T (p.Gln300Ter)	single nucleotide variant	Bilateral frontoparietal polymicrogyria	BFPP\|GPR56 (G-protein coupled receptor 56)\|Cyt28
ADGRG2	NM_001079858.3(ADGRG2):c.2845del (p.Cys949fs)	deletion	Congenital bilateral aplasia of vas deferens from CFTR mutation	GPR64 (G protein-coupled receptor 64)\|HE6 (human epididymal 6)
ADGRG2	NM_001079858.3(ADGRG2):c.1013del (p.Pro338fs)	deletion	Congenital bilateral aplasia of vas deferens from CFTR mutation	GPR64 (G protein-coupled receptor 64)\|HE6 (human epididymal 6)
ADGRG2	NM_001079858.3(ADGRG2):c.2096dup (p.Phe700fs)	duplication	Congenital bilateral aplasia of vas deferens from CFTR mutation	GPR64 (G protein-coupled receptor 64)\|HE6 (human epididymal 6)
ADGRG2	NM_001079858.3(ADGRG2):c.1460del (p.Gly487fs)	deletion	Congenital bilateral aplasia of vas deferens from CFTR mutation	GPR64 (G protein-coupled receptor 64)\|HE6 (human epididymal 6)
ADGRG2	NM_001079858.3(ADGRG2):c.2002_2006delinsAGA (p.Leu668fs)	indel	Congenital bilateral aplasia of vas deferens from CFTR mutation	GPR64 (G protein-coupled receptor 64)\|HE6 (human epididymal 6)
ADGRG2	NM_001079858.3(ADGRG2):c.251C>G (p.Ser84Ter)	single nucleotide variant	Congenital bilateral aplasia of vas deferens from CFTR mutation	GPR64 (G protein-coupled receptor 64)\|HE6 (human epididymal 6)
ADGRG2	NM_001079858.3(ADGRG2):c.1545dup (p.Glu516Ter)	duplication	Congenital bilateral aplasia of vas deferens from CFTR mutation	GPR64 (G protein-coupled receptor 64)\|HE6 (human epididymal 6)
ADGRG2	NM_001079858.3(ADGRG2):c.1731_1839+373del	deletion	Congenital bilateral aplasia of vas deferens from CFTR mutation	GPR64 (G protein-coupled receptor 64)\|HE6 (human epididymal 6)
ADGRG2	NM_001079858.3(ADGRG2):c.2473C>T (p.Arg825Ter)	single nucleotide variant	Congenital bilateral aplasia of vas deferens from CFTR mutation	GPR64 (G protein-coupled receptor 64)\|HE6 (human epididymal 6)
ADGRG2	NM_001079858.3(ADGRG2):c.2033_2035delinsACTCGTGGATTGCTCTG (p.Val678fs)	indel	Obstructive azoospermia	GPR64 (G protein-coupled receptor 64)\|HE6 (human epididymal 6)
ADGRV1	NM_032119.4(ADGRV1):c.9877C>T (p.Arg3293Ter)	single nucleotide variant	Rare genetic deafness	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.14517G>C (p.Gln4839His)	single nucleotide variant	Usher's syndrome	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.11253C>G (p.Tyr3751Ter)	single nucleotide variant	Rare genetic deafness	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.10229_10231dup (p.Val3410dup)	duplication	Rare genetic deafness	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.17195C>T (p.Pro5732Leu)	single nucleotide variant	Idiopathic generalized epilepsy	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.4271G>A (p.Trp1424Ter)	single nucleotide variant	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NC_000005.9:g.(90150019_90151557)_(90151719_90159573)del	deletion	Usher Syndromes	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter)	single nucleotide variant	Usher Syndromes	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.7406G>A (p.Trp2469Ter)	single nucleotide variant	Rare genetic deafness	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.9679C>T (p.Arg3227Ter)	single nucleotide variant	Usher Syndrome, Type II	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.7374_7375del (p.Glu2459fs)	deletion	Rare genetic deafness	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.3509A>C (p.Tyr1170Ser)	single nucleotide variant	Idiopathic generalized epilepsy	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.14315C>A (p.Ser4772Ter)	single nucleotide variant	USHER SYNDROME, TYPE IIC	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.12829C>T (p.Arg4277Ter)	single nucleotide variant	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.2870dup (p.Asn957fs)	duplication	Rare genetic deafness	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.2398C>T (p.Arg800Ter)	single nucleotide variant	Rare genetic deafness	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NC_000005.9:g.(89988604_89989706)_(90074915_90077246)del	deletion	Usher Syndromes	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.1055C>T (p.Pro352Leu)	single nucleotide variant	Autosomal recessive sensorineural hearing loss	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.8838dup (p.Thr2947fs)	duplication	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.8495C>A (p.Ser2832Ter)	single nucleotide variant	Febrile seizures, familial, 4	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.8737del (p.Val2913fs)	deletion	Rare genetic deafness	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.10736_10737del (p.Ala3579fs)	deletion	Retinal dystrophy	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.12798T>A (p.Tyr4266Ter)	single nucleotide variant	Retinal dystrophy	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.1608C>G (p.Tyr536Ter)	single nucleotide variant	Usher syndrome type 2C	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.16114G>T (p.Glu5372Ter)	single nucleotide variant	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.9748+2T>C	single nucleotide variant	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.12511G>T (p.Gly4171Cys)	single nucleotide variant	ADGRV1-related myoclonic epilepsy	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.14467dup (p.Val4823fs)	duplication	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.9208G>T (p.Asp3070Tyr)	single nucleotide variant	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.3133del (p.Ala1045fs)	deletion	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.17974-1G>C	single nucleotide variant	Usher syndrome type 2	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.10458G>A (p.Trp3486Ter)	single nucleotide variant	Usher syndrome type 2	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.8620C>T (p.Gln2874Ter)	single nucleotide variant	Rare genetic deafness	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NC_000005.10:g.(?_90614729)_(90784051_?)del	deletion	Rare genetic deafness	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.1180del (p.Ser394fs)	deletion	Rare genetic deafness	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.4379-1G>A	single nucleotide variant	Tapetoretinal degeneration	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.17195del (p.Pro5732fs)	deletion	Tapetoretinal degeneration	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.14315C>G (p.Ser4772Ter)	single nucleotide variant	Usher syndrome	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.16129G>T (p.Gly5377Ter)	single nucleotide variant	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.16197-1G>T	single nucleotide variant	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.7885G>T (p.Gly2629Ter)	single nucleotide variant	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.17662del (p.Ser5888fs)	deletion	Rare genetic deafness	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.7606G>T (p.Glu2536Ter)	single nucleotide variant	Usher syndrome type 2C	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.18131A>G (p.Tyr6044Cys)	single nucleotide variant	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.14973-2A>G	single nucleotide variant	Rare genetic deafness	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.7006C>T (p.Arg2336Ter)	single nucleotide variant	Rare genetic deafness	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.2258_2270del (p.Gln753fs)	deletion	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NC_000005.10:g.(90694702_90696936)_(90829187_90840577)del	deletion	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.5357_5358del (p.Lys1786fs)	deletion	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.12403+1G>T	single nucleotide variant	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.9214G>A (p.Gly3072Ser)	single nucleotide variant	Idiopathic generalized epilepsy	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.12436C>T (p.Arg4146Ter)	single nucleotide variant	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.4752+2T>G	single nucleotide variant	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.2320G>T (p.Gly774Ter)	single nucleotide variant	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.17200G>T (p.Glu5734Ter)	single nucleotide variant	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.17137del (p.Ala5713fs)	deletion	Usher syndrome, type IIC, GPR98/PDZD7 digenic	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.13232-1G>A	single nucleotide variant	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.11122-1G>C	single nucleotide variant	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.2898G>A (p.Glu966=)	single nucleotide variant	USHER SYNDROME, TYPE IIC	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.12631C>T (p.Arg4211Ter)	single nucleotide variant	Rare genetic deafness	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.7610del (p.Ser2537fs)	deletion	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.9749-2del	deletion	CONVULSIONS, FAMILIAL FEBRILE, 4	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.12380_12381del (p.Glu4127fs)	deletion	Usher syndrome type 2C	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.11484_11487del (p.Asn3828fs)	deletion	Retinal dystrophy	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.14972+1G>T	single nucleotide variant	Usher syndrome type 2C	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.12125del (p.Met4042fs)	deletion	Usher syndrome type 2	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.3(ADGRV1):c.(?_4379)_(4752_?)del (p.(?))	deletion	Rare genetic deafness	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.955_958dup (p.Leu320fs)	duplication	USHER SYNDROME, TYPE IIA	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.1626A>T (p.Thr542=)	single nucleotide variant	USHER SYNDROME, TYPE IIA	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.14639_14640del (p.Val4879_Ser4880insTer)	microsatellite	USHER SYNDROME, TYPE IIA	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.11772del (p.Ile3925fs)	deletion	USHER SYNDROME, TYPE IIA	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.16368G>C (p.Lys5456Asn)	single nucleotide variant	Hearing impairment	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.2680del (p.Ser894fs)	deletion	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.17518del (p.Tyr5840fs)	deletion	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.6962_6963del (p.Val2321fs)	deletion	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.(?_18153)-15_*(15_?)del	deletion	Rare genetic deafness	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.5643del (p.Tyr1882fs)	deletion	Rare genetic deafness	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.12697dup (p.Ser4233fs)	duplication	Retinal dystrophy	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.9906+1G>A	single nucleotide variant	Retinal dystrophy	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.10940del (p.Asn3647fs)	deletion	Retinal dystrophy	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.8749G>T (p.Glu2917Ter)	single nucleotide variant	Retinal dystrophy	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.15494del (p.Lys5165fs)	deletion	Usher syndrome type 2	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.10060_10063del (p.Thr3354fs)	microsatellite	Rare genetic deafness	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.9907-1G>A	single nucleotide variant	Retinal dystrophy	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.2277T>A (p.Tyr759Ter)	single nucleotide variant	Retinal dystrophy	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.2241-2A>G	single nucleotide variant	Usher syndrome type 2	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.16940del (p.Val5647fs)	deletion	Retinal dystrophy	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.3195dup (p.Gly1066fs)	duplication	Usher syndrome type 2	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.1239-8C>G	single nucleotide variant	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.12497C>G (p.Ser4166Ter)	single nucleotide variant	Retinal dystrophy	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.16436del (p.Asn5479fs)	deletion	Retinal dystrophy	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.4391T>G (p.Leu1464Arg)	single nucleotide variant	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.2302G>T (p.Glu768Ter)	single nucleotide variant	Rare genetic deafness	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.8713_8716dup (p.Ile2906fs)	duplication	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.14119G>T (p.Asp4707Tyr)	single nucleotide variant	Usher syndrome, type I, French variety	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.12101T>G (p.Phe4034Cys)	single nucleotide variant	Rare genetic deafness	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.14885G>A (p.Trp4962Ter)	single nucleotide variant	Rare genetic deafness	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.7129C>T (p.Arg2377Ter)	single nucleotide variant	Rare genetic deafness	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.8807C>G (p.Ser2936Ter)	single nucleotide variant	Usher's syndrome	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.1701del (p.Leu568fs)	deletion	Rare genetic deafness	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.3:c.16079-1455_c.16196+155del	deletion	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.8790del (p.Met2931fs)	deletion	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.5504_5507del (p.Leu1835fs)	microsatellite	Retinal dystrophy	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRV1	NM_032119.4(ADGRV1):c.17668_17669del (p.Met5890fs)	deletion	Usher syndrome, type 2B	FEB4\|MASS1\|USH2C\|VLGR1\|very large G protein-coupled receptor 1\|GPR98 (G protein-coupled receptor 98)
ADGRG6	NM_198569.3(ADGRG6):c.2306T>A (p.Val769Glu)	single nucleotide variant	Lethal congenital contracture syndrome 9	GPR126 (G protein-coupled receptor 126)\|developmentally regulated GPCR\|vascular inducible GPCR
ADGRG6	NM_198569.3(ADGRG6):c.19C>T (p.Arg7Ter)	single nucleotide variant	Lethal congenital contracture syndrome 9	GPR126 (G protein-coupled receptor 126)\|developmentally regulated GPCR\|vascular inducible GPCR
ADGRG6	NM_198569.3(ADGRG6):c.2219T>A (p.Leu740Ter)	single nucleotide variant	Lethal congenital contracture syndrome 9	GPR126 (G protein-coupled receptor 126)\|developmentally regulated GPCR\|vascular inducible GPCR
ADGRG6	NM_198569.3(ADGRG6):c.2144dup (p.Gln716fs)	duplication	Lethal congenital contracture syndrome 9	GPR126 (G protein-coupled receptor 126)\|developmentally regulated GPCR\|vascular inducible GPCR
GPR143	NM_000273.3(GPR143):c.767+1G>A	single nucleotide variant	Ocular albinism type 1	MOA1\|ocular albinism 1 (Nettleship-Falls)\|NYS6\|Ocular albinism type 1 protein
GPR143	NM_000273.3(GPR143):c.346T>G (p.Cys116Gly)	single nucleotide variant	Ocular albinism type 1	MOA1\|ocular albinism 1 (Nettleship-Falls)\|NYS6\|Ocular albinism type 1 protein
GPR143	NM_000273.3(GPR143):c.456-5_463del	deletion	Ocular albinism, type I	MOA1\|ocular albinism 1 (Nettleship-Falls)\|NYS6\|Ocular albinism type 1 protein
GPR143	NM_000273.3(GPR143):c.548+2T>C	single nucleotide variant	Ocular albinism type 1	MOA1\|ocular albinism 1 (Nettleship-Falls)\|NYS6\|Ocular albinism type 1 protein
GPR143	NM_000273.3(GPR143):c.360+2T>C	single nucleotide variant	Ocular albinism type 1	MOA1\|ocular albinism 1 (Nettleship-Falls)\|NYS6\|Ocular albinism type 1 protein
GPR143	NM_000273.3(GPR143):c.361-2A>C	single nucleotide variant	Ocular albinism type 1	MOA1\|ocular albinism 1 (Nettleship-Falls)\|NYS6\|Ocular albinism type 1 protein
GPR143	NM_000273.3(GPR143):c.548+2T>A	single nucleotide variant	Ocular albinism, type I	MOA1\|ocular albinism 1 (Nettleship-Falls)\|NYS6\|Ocular albinism type 1 protein
GPR143	NC_000023.9:g.9688757-?_9693917+?del	deletion	Ocular albinism type 1	MOA1\|ocular albinism 1 (Nettleship-Falls)\|NYS6\|Ocular albinism type 1 protein
GPR143	NM_000273.3(GPR143):c.397T>A (p.Trp133Arg)	single nucleotide variant	Ocular albinism, type I	MOA1\|ocular albinism 1 (Nettleship-Falls)\|NYS6\|Ocular albinism type 1 protein
GPR143	NM_000273.3(GPR143):c.104G>A (p.Gly35Asp)	single nucleotide variant	Ocular albinism, type I	MOA1\|ocular albinism 1 (Nettleship-Falls)\|NYS6\|Ocular albinism type 1 protein
GPR143	GPR143, 37-BP DEL	deletion	Nystagmus 6, congenital, X-linked	MOA1\|ocular albinism 1 (Nettleship-Falls)\|NYS6\|Ocular albinism type 1 protein
GPR143	NM_000273.3(GPR143):c.768-1G>A	single nucleotide variant	Inborn genetic diseases	MOA1\|ocular albinism 1 (Nettleship-Falls)\|NYS6\|Ocular albinism type 1 protein
GPR143	GPR143, 2-BP INS, NT992	insertion	Ocular albinism, type I	MOA1\|ocular albinism 1 (Nettleship-Falls)\|NYS6\|Ocular albinism type 1 protein
GPR143	NM_000273.3(GPR143):c.779A>G (p.Asn260Ser)	single nucleotide variant	Albinism	MOA1\|ocular albinism 1 (Nettleship-Falls)\|NYS6\|Ocular albinism type 1 protein
GPR143	NM_000273.3(GPR143):c.12_36del (p.Leu6fs)	deletion	Nystagmus	MOA1\|ocular albinism 1 (Nettleship-Falls)\|NYS6\|Ocular albinism type 1 protein
GPR143	GPR143, 19-BP DUP	duplication	Nystagmus 6, congenital, X-linked	MOA1\|ocular albinism 1 (Nettleship-Falls)\|NYS6\|Ocular albinism type 1 protein
GPR143	GPR143, 14-BP DEL, NT816	deletion	Ocular albinism, type I	MOA1\|ocular albinism 1 (Nettleship-Falls)\|NYS6\|Ocular albinism type 1 protein
GPR143	NM_000273.3(GPR143):c.266C>T (p.Ser89Phe)	single nucleotide variant	Nystagmus 6, congenital, X-linked	MOA1\|ocular albinism 1 (Nettleship-Falls)\|NYS6\|Ocular albinism type 1 protein
GPR143	NM_000273.3(GPR143):c.874T>G (p.Trp292Gly)	single nucleotide variant	Albinism	MOA1\|ocular albinism 1 (Nettleship-Falls)\|NYS6\|Ocular albinism type 1 protein
GPR143	NM_000273.3(GPR143):c.695C>A (p.Thr232Lys)	single nucleotide variant	Ocular albinism, type I	MOA1\|ocular albinism 1 (Nettleship-Falls)\|NYS6\|Ocular albinism type 1 protein
GPR143	NM_000273.3(GPR143):c.397T>C (p.Trp133Arg)	single nucleotide variant	Ocular albinism, type I	MOA1\|ocular albinism 1 (Nettleship-Falls)\|NYS6\|Ocular albinism type 1 protein
GPR143	GPR143, 17-BP DEL	deletion	Ocular albinism, type I	MOA1\|ocular albinism 1 (Nettleship-Falls)\|NYS6\|Ocular albinism type 1 protein
GPR143	NM_000273.3(GPR143):c.223dup (p.Ala75fs)	duplication	Nettleship-Falls type ocular albinism	MOA1\|ocular albinism 1 (Nettleship-Falls)\|NYS6\|Ocular albinism type 1 protein
GPR143	NM_000273.3(GPR143):c.731del (p.Ile244fs)	deletion	Nystagmus 6, congenital, X-linked	MOA1\|ocular albinism 1 (Nettleship-Falls)\|NYS6\|Ocular albinism type 1 protein
GPR179	NM_001004334.4(GPR179):c.1784+1G>A	single nucleotide variant	Congenital stationary night blindness 1E	GPR158-like 1
GPR179	NM_001004334.4(GPR179):c.799_803delinsTGATCTAC (p.Gln267_Val268delinsTer)	indel	Congenital stationary night blindness	GPR158-like 1
GPR179	NM_001004334.4(GPR179):c.187del (p.Leu63fs)	deletion	Congenital stationary night blindness 1E	GPR158-like 1
GPR179	NM_001004334.4(GPR179):c.481C>T (p.Gln161Ter)	single nucleotide variant	Congenital stationary night blindness 1E	GPR158-like 1
GPR179	NM_001004334.4(GPR179):c.278del (p.Pro93fs)	deletion	Congenital stationary night blindness 1E	GPR158-like 1
GPR179	NM_001004334.4(GPR179):c.2706_2707dup (p.Pro903fs)	duplication	Congenital stationary night blindness	GPR158-like 1
GPR179	NM_001004334.4(GPR179):c.598C>T (p.Arg200Ter)	single nucleotide variant	Congenital stationary night blindness 1E	GPR158-like 1
GPR179	NM_001004334.4(GPR179):c.779_780dup (p.Pro262fs)	duplication	Night blindness, congenital stationary (complete), 1E, autosomal recessive	GPR158-like 1
GPR179	NM_001004334.4(GPR179):c.148C>T (p.Gln50Ter)	single nucleotide variant	Congenital stationary night blindness 1E	GPR158-like 1
EDNRA	NM_001957.4(EDNRA):c.386A>T (p.Tyr129Phe)	single nucleotide variant	Mandibulofacial dysostosis with alopecia	ENDOR\|endothelin A receptor\|endothelin-1 receptor\|ET-AR\|Gpcr10
EDNRA	NM_001957.4(EDNRA):c.907G>A (p.Glu303Lys)	single nucleotide variant	Mandibulofacial dysostosis with alopecia	ENDOR\|endothelin A receptor\|endothelin-1 receptor\|ET-AR\|Gpcr10
EDNRB	NM_001122659.3(EDNRB):c.57C>A (p.Cys19Ter)	single nucleotide variant	WAARDENBURG SYNDROME WITH HIRSCHSPRUNG DISEASE, TYPE 4A	HSCR\|HSCR2\|endothelin B receptor\|ET-BR
FZD2	NM_001466.4(FZD2):c.367_388dup (p.Phe130fs)	duplication	Covesdem syndrome (formerly)	Fz2\|Frizzled-2\|Drosophila polarity gene homolog 2\|frizzled family receptor 2\|Fzd10\|Fz10
FZD2	NM_001466.4(FZD2):c.1300G>A (p.Gly434Ser)	single nucleotide variant	Autosomal dominant Robinow syndrome 2	Fz2\|Frizzled-2\|Drosophila polarity gene homolog 2\|frizzled family receptor 2\|Fzd10\|Fz10
FZD2	NM_001466.4(FZD2):c.1644G>A (p.Trp548Ter)	single nucleotide variant	Covesdem syndrome (formerly)	Fz2\|Frizzled-2\|Drosophila polarity gene homolog 2\|frizzled family receptor 2\|Fzd10\|Fz10
FZD2	NM_001466.4(FZD2):c.1403T>G (p.Leu468Arg)	single nucleotide variant	Short stature	Fz2\|Frizzled-2\|Drosophila polarity gene homolog 2\|frizzled family receptor 2\|Fzd10\|Fz10
FZD2	NM_001466.4(FZD2):c.1301G>T (p.Gly434Val)	single nucleotide variant	Autosomal dominant Robinow syndrome 3	Fz2\|Frizzled-2\|Drosophila polarity gene homolog 2\|frizzled family receptor 2\|Fzd10\|Fz10
FZD2	NM_001466.4(FZD2):c.1301_1302delinsTT (p.Gly434Val)	indel	Autosomal dominant Robinow syndrome 2	Fz2\|Frizzled-2\|Drosophila polarity gene homolog 2\|frizzled family receptor 2\|Fzd10\|Fz10
FZD2	NM_001466.4(FZD2):c.1130G>A (p.Trp377Ter)	single nucleotide variant	Autosomal dominant Robinow syndrome 2	Fz2\|Frizzled-2\|Drosophila polarity gene homolog 2\|frizzled family receptor 2\|Fzd10\|Fz10
FZD3	NM_017412.4(FZD3):c.888del (p.Phe296fs)	deletion	Colorectal cancer	Fz3\|frizzled 3\|frizzled family receptor 3\|frizzled homolog 3
FZD3	NM_017412.4(FZD3):c.1616dup (p.Asp539fs)	duplication	Hydrocephalus	Fz3\|frizzled 3\|frizzled family receptor 3\|frizzled homolog 3
FZD4	NM_012193.4(FZD4):c.40_49del (p.Pro14fs)	microsatellite	Exudative vitreoretinopathy	Fz4\|CD344\|EVR1\|exudative vitreoretinopathy 1\|frizzled family receptor 4\|frizzled receptor 4
FZD5	NM_003468.4(FZD5):c.1081_1082insGAA (p.His361delinsArgAsn)	insertion	COLOBOMA OF IRIS, CHOROID, AND RETINA	frizzled family receptor 5\|Fz5
FZD5	NM_003468.4(FZD5):c.820del (p.Leu274fs)	deletion	COLOBOMA OF IRIS, CHOROID, AND RETINA	frizzled family receptor 5\|Fz5
FZD5	NM_003468.4(FZD5):c.1181_1246del (p.Asn394_Gly415del)	deletion	COLOBOMA OF IRIS, CHOROID, AND RETINA	frizzled family receptor 5\|Fz5
FZD6	NM_003506.4(FZD6):c.346C>T (p.Arg116Ter)	single nucleotide variant	Wilms' tumor	Fz6\|frizzled family receptor 6
FZD6	NM_003506.4(FZD6):c.1525C>T (p.Arg509Ter)	single nucleotide variant	Onychodystrophy totalis, isolated	Fz6\|frizzled family receptor 6
FZD6	NM_003506.4(FZD6):c.1312G>A (p.Glu438Lys)	single nucleotide variant	Onychodystrophy totalis, isolated	Fz6\|frizzled family receptor 6
FZD6	NM_003506.4(FZD6):c.1393-2A>G	single nucleotide variant	Onychodystrophy totalis, isolated	Fz6\|frizzled family receptor 6
SMO	NM_005631.5(SMO):c.1198C>T (p.Arg400Cys)	single nucleotide variant	Hypothalamic hamartoma	SMOH\|FZD11\|frizzled family member 11\|bnb\|smoothened, frizzled class receptor\|smoothened
SMO	NM_005631.5(SMO):c.754T>C (p.Phe252Leu)	single nucleotide variant	Hypothalamic hamartoma	SMOH\|FZD11\|frizzled family member 11\|bnb\|smoothened, frizzled class receptor\|smoothened
SMO	NM_005631.5(SMO):c.781C>T (p.Arg261Cys)	single nucleotide variant	Hamartoma of hypothalamus	SMOH\|FZD11\|frizzled family member 11\|bnb\|smoothened, frizzled class receptor\|smoothened
SMO	NM_005631.5(SMO):c.1417G>C (p.Asp473His)	single nucleotide variant	Basal cell carcinoma	SMOH\|FZD11\|frizzled family member 11\|bnb\|smoothened, frizzled class receptor\|smoothened
SMO	NM_005631.5(SMO):c.1604G>T (p.Trp535Leu)	single nucleotide variant	Basal cell carcinoma, somatic	SMOH\|FZD11\|frizzled family member 11\|bnb\|smoothened, frizzled class receptor\|smoothened
SMO	NM_005631.5(SMO):c.1285A>T (p.Ile429Phe)	single nucleotide variant	Hamartoma of hypothalamus	SMOH\|FZD11\|frizzled family member 11\|bnb\|smoothened, frizzled class receptor\|smoothened
SMO	NM_005631.5(SMO):c.1726C>T (p.Arg576Trp)	single nucleotide variant	Hamartoma of hypothalamus	SMOH\|FZD11\|frizzled family member 11\|bnb\|smoothened, frizzled class receptor\|smoothened
SMO	NM_005631.5(SMO):c.1727G>A (p.Arg576Gln)	single nucleotide variant	Hamartoma of hypothalamus	SMOH\|FZD11\|frizzled family member 11\|bnb\|smoothened, frizzled class receptor\|smoothened
SMO	NM_005631.5(SMO):c.1685G>A (p.Arg562Gln)	single nucleotide variant	Basal cell carcinoma, somatic	SMOH\|FZD11\|frizzled family member 11\|bnb\|smoothened, frizzled class receptor\|smoothened
SMO	NM_005631.5(SMO):c.1234C>T (p.Leu412Phe)	single nucleotide variant	Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development	SMOH\|FZD11\|frizzled family member 11\|bnb\|smoothened, frizzled class receptor\|smoothened
SMO	NM_005631.5(SMO):c.2291_2292del (p.Gln764fs)	deletion	Hamartoma of hypothalamus	SMOH\|FZD11\|frizzled family member 11\|bnb\|smoothened, frizzled class receptor\|smoothened
SMO	NM_005631.5(SMO):c.1339G>T (p.Glu447Ter)	single nucleotide variant	Hamartoma of hypothalamus	SMOH\|FZD11\|frizzled family member 11\|bnb\|smoothened, frizzled class receptor\|smoothened
GABBR2	NM_005458.8(GABBR2):c.1699G>A (p.Ala567Thr)	single nucleotide variant	Inborn genetic diseases	GABA_BR2\|GABABR2\|HG20\|G protein-coupled receptor 51\|GABA-B R2 receptor\|GABA-B receptor 2\|GPR51\|GPRC3B\|gamma-aminobutyric acid (GABA) B receptor, 2\|gamma-aminobutyric acid (GABA) B receptor 2\|gamma-aminobutyric acid (GABA) B receptor
GABBR2	NM_005458.8(GABBR2):c.2077G>T (p.Gly693Trp)	single nucleotide variant	Developmental and epileptic encephalopathy, 59	GABA_BR2\|GABABR2\|HG20\|G protein-coupled receptor 51\|GABA-B R2 receptor\|GABA-B receptor 2\|GPR51\|GPRC3B\|gamma-aminobutyric acid (GABA) B receptor, 2\|gamma-aminobutyric acid (GABA) B receptor 2\|gamma-aminobutyric acid (GABA) B receptor
GABBR2	NM_005458.8(GABBR2):c.2084G>T (p.Ser695Ile)	single nucleotide variant	Developmental and epileptic encephalopathy, 59	GABA_BR2\|GABABR2\|HG20\|G protein-coupled receptor 51\|GABA-B R2 receptor\|GABA-B receptor 2\|GPR51\|GPRC3B\|gamma-aminobutyric acid (GABA) B receptor, 2\|gamma-aminobutyric acid (GABA) B receptor 2\|gamma-aminobutyric acid (GABA) B receptor
GABBR2	NM_005458.8(GABBR2):c.2114T>A (p.Ile705Asn)	single nucleotide variant	Developmental and epileptic encephalopathy, 59	GABA_BR2\|GABABR2\|HG20\|G protein-coupled receptor 51\|GABA-B R2 receptor\|GABA-B receptor 2\|GPR51\|GPRC3B\|gamma-aminobutyric acid (GABA) B receptor, 2\|gamma-aminobutyric acid (GABA) B receptor 2\|gamma-aminobutyric acid (GABA) B receptor
GABBR2	NM_005458.8(GABBR2):c.2119G>A (p.Ala707Thr)	single nucleotide variant	Developmental and epileptic encephalopathy, 59	GABA_BR2\|GABABR2\|HG20\|G protein-coupled receptor 51\|GABA-B R2 receptor\|GABA-B receptor 2\|GPR51\|GPRC3B\|gamma-aminobutyric acid (GABA) B receptor, 2\|gamma-aminobutyric acid (GABA) B receptor 2\|gamma-aminobutyric acid (GABA) B receptor
GABBR2	NM_005458.8(GABBR2):c.2106G>A (p.Met702Ile)	single nucleotide variant	Intellectual functioning disability	GABA_BR2\|GABABR2\|HG20\|G protein-coupled receptor 51\|GABA-B R2 receptor\|GABA-B receptor 2\|GPR51\|GPRC3B\|gamma-aminobutyric acid (GABA) B receptor, 2\|gamma-aminobutyric acid (GABA) B receptor 2\|gamma-aminobutyric acid (GABA) B receptor
GABBR2	NM_005458.8(GABBR2):c.1700C>T (p.Ala567Val)	single nucleotide variant	Epileptic encephalopathy	GABA_BR2\|GABABR2\|HG20\|G protein-coupled receptor 51\|GABA-B R2 receptor\|GABA-B receptor 2\|GPR51\|GPRC3B\|gamma-aminobutyric acid (GABA) B receptor, 2\|gamma-aminobutyric acid (GABA) B receptor 2\|gamma-aminobutyric acid (GABA) B receptor
GHSR	NM_198407.2(GHSR):c.611C>A (p.Ala204Glu)	single nucleotide variant	Short stature due to growth hormone secretagogue receptor deficiency	growth hormone-releasing peptide receptor\|GH-releasing peptide receptor\|GHS-R\|ghrelin receptor 1a
GHSR	NM_198407.2(GHSR):c.6G>A (p.Trp2Ter)	single nucleotide variant	Short stature due to growth hormone secretagogue receptor deficiency	growth hormone-releasing peptide receptor\|GH-releasing peptide receptor\|GHS-R\|ghrelin receptor 1a
GHRHR	NG_021416.1:g.4925A>C	single nucleotide variant	Isolated growth hormone deficiency, type 4	GRF receptor\|GRFR\|growth hormone-releasing factor receptor\|Ghrfr
GHRHR	NM_000823.4(GHRHR):c.431T>A (p.Leu144His)	single nucleotide variant	Isolated growth hormone deficiency, type 4	GRF receptor\|GRFR\|growth hormone-releasing factor receptor\|Ghrfr
GHRHR	NM_000823.4(GHRHR):c.418T>C (p.Ser140Pro)	single nucleotide variant	IGHD IB	GRF receptor\|GRFR\|growth hormone-releasing factor receptor\|Ghrfr
GHRHR	NM_000823.4(GHRHR):c.725T>G (p.Phe242Cys)	single nucleotide variant	Isolated growth hormone deficiency, type 4	GRF receptor\|GRFR\|growth hormone-releasing factor receptor\|Ghrfr
GHRHR	NM_000823.4(GHRHR):c.985A>G (p.Lys329Glu)	single nucleotide variant	Isolated growth hormone deficiency, type 4	GRF receptor\|GRFR\|growth hormone-releasing factor receptor\|Ghrfr
GHRHR	NC_000007.14:g.31008681G>T	single nucleotide variant	IGHD IB	GRF receptor\|GRFR\|growth hormone-releasing factor receptor\|Ghrfr
GHRHR	NM_000823.4(GHRHR):c.665C>A (p.Ala222Glu)	single nucleotide variant	Isolated growth hormone deficiency, type 4	GRF receptor\|GRFR\|growth hormone-releasing factor receptor\|Ghrfr
GHRHR	Single allele	indel	IGHD IB	GRF receptor\|GRFR\|growth hormone-releasing factor receptor\|Ghrfr
GHRHR	NM_000823.4(GHRHR):c.495C>A (p.His165Gln)	single nucleotide variant	IGHD IB	GRF receptor\|GRFR\|growth hormone-releasing factor receptor\|Ghrfr
GHRHR	NM_000823.4(GHRHR):c.731G>A (p.Trp244Ter)	single nucleotide variant	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV	GRF receptor\|GRFR\|growth hormone-releasing factor receptor\|Ghrfr
GHRHR	NM_000823.4(GHRHR):c.967C>T (p.Gln323Ter)	single nucleotide variant	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV	GRF receptor\|GRFR\|growth hormone-releasing factor receptor\|Ghrfr
GHRHR	NM_000823.4(GHRHR):c.1069C>T (p.Arg357Cys)	single nucleotide variant	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV	GRF receptor\|GRFR\|growth hormone-releasing factor receptor\|Ghrfr
GHRHR	NM_000823.4(GHRHR):c.57+1G>A	single nucleotide variant	Isolated growth hormone deficiency, type 4	GRF receptor\|GRFR\|growth hormone-releasing factor receptor\|Ghrfr
GHRHR	NM_000823.4(GHRHR):c.281G>A (p.Arg94Gln)	single nucleotide variant	IGHD IB	GRF receptor\|GRFR\|growth hormone-releasing factor receptor\|Ghrfr
GCGR	GCGR, ARG8TER	variation	GCGR-related hyperglucagonemia	GGR\|GL-R\|GR
GCGR	GCGR, 1-BP INS, EX4	insertion	GCGR-related hyperglucagonemia	GGR\|GL-R\|GR
GCGR	GCGR, GLN327TER	variation	GCGR-related hyperglucagonemia	GGR\|GL-R\|GR
GCGR	NM_000160.5(GCGR):c.879-1G>A	single nucleotide variant	GCGR-related hyperglucagonemia	GGR\|GL-R\|GR
GCGR	NM_000160.5(GCGR):c.187G>A (p.Asp63Asn)	single nucleotide variant	GCGR-related hyperglucagonemia	GGR\|GL-R\|GR
GCGR	NM_000160.5(GCGR):c.256C>T (p.Pro86Ser)	single nucleotide variant	GCGR-related hyperglucagonemia	GGR\|GL-R\|GR
FSHR	NM_000145.4(FSHR):c.662T>G (p.Val221Gly)	single nucleotide variant	OVARIAN DYSGENESIS, HYPERGONADOTROPIC, AUTOSOMAL RECESSIVE	Follitropin receptor\|LGR1\|FSH-R
FSHR	NM_000145.4(FSHR):c.1760C>A (p.Pro587His)	single nucleotide variant	Gonadal dysgenesis, XX type	Follitropin receptor\|LGR1\|FSH-R
FSHR	NM_000145.4(FSHR):c.374T>G (p.Leu125Arg)	single nucleotide variant	Genetic non-acquired premature ovarian failure	Follitropin receptor\|LGR1\|FSH-R
FSHR	NM_000145.4(FSHR):c.1801C>G (p.Leu601Val)	single nucleotide variant	OVARIAN DYSGENESIS, HYPERGONADOTROPIC, AUTOSOMAL RECESSIVE	Follitropin receptor\|LGR1\|FSH-R
FSHR	NM_000145.4(FSHR):c.566C>T (p.Ala189Val)	single nucleotide variant	Ovarian dysgenesis 1	Follitropin receptor\|LGR1\|FSH-R
FSHR	NM_000145.4(FSHR):c.2T>C (p.Met1Thr)	single nucleotide variant	Amenorrhea	Follitropin receptor\|LGR1\|FSH-R
FSHR	NM_000145.4(FSHR):c.1345A>G (p.Thr449Ala)	single nucleotide variant	Ovarian hyperstimulation syndrome	Follitropin receptor\|LGR1\|FSH-R
FSHR	NM_000145.4(FSHR):c.1679_1685del (p.Asn560fs)	deletion	Genetic non-acquired premature ovarian failure	Follitropin receptor\|LGR1\|FSH-R
FSHR	NM_000145.4(FSHR):c.683C>T (p.Thr228Ile)	single nucleotide variant	Genetic non-acquired premature ovarian failure	Follitropin receptor\|LGR1\|FSH-R
FSHR	NM_000145.4(FSHR):c.1763T>C (p.Ile588Thr)	single nucleotide variant	Genetic non-acquired premature ovarian failure	Follitropin receptor\|LGR1\|FSH-R
FSHR	NM_000145.4(FSHR):c.884C>T (p.Ser295Phe)	single nucleotide variant	Genetic non-acquired premature ovarian failure	Follitropin receptor\|LGR1\|FSH-R
FSHR	NM_000145.4(FSHR):c.1396G>A (p.Glu466Lys)	single nucleotide variant	Genetic non-acquired premature ovarian failure	Follitropin receptor\|LGR1\|FSH-R
FSHR	NM_000145.4(FSHR):c.1862C>T (p.Ala621Val)	single nucleotide variant	Ovarian dysgenesis 1	Follitropin receptor\|LGR1\|FSH-R
FSHR	NM_000145.4(FSHR):c.1384G>C (p.Ala462Pro)	single nucleotide variant	Ovarian dysgenesis 1	Follitropin receptor\|LGR1\|FSH-R
FSHR	NM_000145.4(FSHR):c.349C>T (p.Gln117Ter)	single nucleotide variant	Genetic non-acquired premature ovarian failure	Follitropin receptor\|LGR1\|FSH-R
FSHR	NM_000145.4(FSHR):c.1717C>T (p.Arg573Cys)	single nucleotide variant	Ovarian dysgenesis 1	Follitropin receptor\|LGR1\|FSH-R
FSHR	NM_000145.4(FSHR):c.671A>T (p.Asp224Val)	single nucleotide variant	OVARIAN DYSGENESIS, HYPERGONADOTROPIC, AUTOSOMAL RECESSIVE	Follitropin receptor\|LGR1\|FSH-R
FSHR	NM_000145.4(FSHR):c.1346C>T (p.Thr449Ile)	single nucleotide variant	Ovarian hyperstimulation syndrome	Follitropin receptor\|LGR1\|FSH-R
FSHR	NM_000145.4(FSHR):c.1699G>A (p.Asp567Asn)	single nucleotide variant	Ovarian hyperstimulation syndrome	Follitropin receptor\|LGR1\|FSH-R
FSHR	NM_000145.4(FSHR):c.1555C>A (p.Pro519Thr)	single nucleotide variant	Ovarian dysgenesis 1	Follitropin receptor\|LGR1\|FSH-R
FSHR	NM_000145.4(FSHR):c.1634T>C (p.Ile545Thr)	single nucleotide variant	Ovarian hyperstimulation syndrome	Follitropin receptor\|LGR1\|FSH-R
FSHR	NM_000145.4(FSHR):c.1255G>A (p.Ala419Thr)	single nucleotide variant	Ovarian dysgenesis 1	Follitropin receptor\|LGR1\|FSH-R
FSHR	NM_000145.4(FSHR):c.1043C>G (p.Pro348Arg)	single nucleotide variant	OVARIAN DYSGENESIS, HYPERGONADOTROPIC, AUTOSOMAL RECESSIVE	Follitropin receptor\|LGR1\|FSH-R
FSHR	NM_000145.4(FSHR):c.1724C>T (p.Ala575Val)	single nucleotide variant	OVARIAN DYSGENESIS, HYPERGONADOTROPIC, AUTOSOMAL RECESSIVE	Follitropin receptor\|LGR1\|FSH-R
FSHR	NM_000145.4(FSHR):c.383C>A (p.Ser128Tyr)	single nucleotide variant	Ovarian hyperstimulation syndrome	Follitropin receptor\|LGR1\|FSH-R
LHCGR	LHCGR, 33-BP INS, NT54	insertion	Leydig cell agenesis	Choriogonadotropin receptor\|LCGR\|LGR2\|LHR\|lutropin-choriogonadotropic hormone receptor\|LH-R
LHCGR	LHCGR, EX10DEL	deletion	Leydig cell hypoplasia, partial	Choriogonadotropin receptor\|LCGR\|LGR2\|LHR\|lutropin-choriogonadotropic hormone receptor\|LH-R
LHCGR	LHCGR, LEU-GLN INS, CODON 19-20	insertion	Luteinizing hormone/choriogonadotropin receptor, lq variant	Choriogonadotropin receptor\|LCGR\|LGR2\|LHR\|lutropin-choriogonadotropic hormone receptor\|LH-R
LHCGR	LHCGR, 6-BP DEL, NT1822	deletion	Luteinizing hormone resistance, female	Choriogonadotropin receptor\|LCGR\|LGR2\|LHR\|lutropin-choriogonadotropic hormone receptor\|LH-R
TSHR	TSHR, 18-BP DEL, 4-BP INS	indel	Hypothyroidism due to TSH receptor mutations	Thyrotropin Receptor\|LGR3\|TSH-R
TSHR	NM_000369.5(TSHR):c.970C>T (p.Gln324Ter)	single nucleotide variant	Hypothyroidism due to TSH receptor mutations	Thyrotropin Receptor\|LGR3\|TSH-R
TSHR	NM_000369.5(TSHR):c.326G>A (p.Arg109Gln)	single nucleotide variant	Hypothyroidism due to TSH receptor mutations	Thyrotropin Receptor\|LGR3\|TSH-R
TSHR	NM_000369.5(TSHR):c.1228G>A (p.Asp410Asn)	single nucleotide variant	Hypothyroidism due to TSH receptor mutations	Thyrotropin Receptor\|LGR3\|TSH-R
TSHR	NM_000369.5(TSHR):c.1575C>A (p.Phe525Leu)	single nucleotide variant	Hypothyroidism due to TSH receptor mutations	Thyrotropin Receptor\|LGR3\|TSH-R
TSHR	NM_000369.5(TSHR):c.1170T>G (p.Cys390Trp)	single nucleotide variant	Hypothyroidism due to TSH receptor mutations	Thyrotropin Receptor\|LGR3\|TSH-R
TSHR	NM_000369.5(TSHR):c.1430C>T (p.Thr477Ile)	single nucleotide variant	Hypothyroidism due to TSH receptor mutations	Thyrotropin Receptor\|LGR3\|TSH-R
TSHR	NM_000369.5(TSHR):c.1960A>T (p.Ile654Phe)	single nucleotide variant	Hypothyroidism due to TSH receptor mutations	Thyrotropin Receptor\|LGR3\|TSH-R
TSHR	NM_000369.5(TSHR):c.548A>G (p.Lys183Arg)	single nucleotide variant	Familial gestational hyperthyroidism	Thyrotropin Receptor\|LGR3\|TSH-R
TSHR	NM_000369.5(TSHR):c.842G>A (p.Ser281Asn)	single nucleotide variant	Hyperthyroidism, nonautoimmune	Thyrotropin Receptor\|LGR3\|TSH-R
TSHR	NM_000369.5(TSHR):c.1887G>T (p.Leu629Phe)	single nucleotide variant	Hyperthyroidism, nonautoimmune	Thyrotropin Receptor\|LGR3\|TSH-R
TSHR	NM_000369.5(TSHR):c.1514G>A (p.Ser505Asn)	single nucleotide variant	Hyperthyroidism, nonautoimmune	Thyrotropin Receptor\|LGR3\|TSH-R
TSHR	NM_000369.5(TSHR):c.2015G>A (p.Cys672Tyr)	single nucleotide variant	Hyperthyroidism, nonautoimmune	Thyrotropin Receptor\|LGR3\|TSH-R
TSHR	NM_000369.5(TSHR):c.1526T>C (p.Val509Ala)	single nucleotide variant	Hyperthyroidism, nonautoimmune	Thyrotropin Receptor\|LGR3\|TSH-R
TSHR	NM_000369.5(TSHR):c.1915C>T (p.Pro639Ser)	single nucleotide variant	Hyperthyroidism, nonautoimmune	Thyrotropin Receptor\|LGR3\|TSH-R
TSHR	NM_000369.5(TSHR):c.1897G>C (p.Asp633His)	single nucleotide variant	THYROID CARCINOMA WITH THYROTOXICOSIS, SOMATIC	Thyrotropin Receptor\|LGR3\|TSH-R
TSHR	NM_000369.5(TSHR):c.1291G>A (p.Gly431Ser)	single nucleotide variant	Hyperthyroidism, nonautoimmune	Thyrotropin Receptor\|LGR3\|TSH-R
TSHR	NM_000369.5(TSHR):c.1891T>C (p.Phe631Leu)	single nucleotide variant	Thyroid adenoma, hyperfunctioning, somatic	Thyrotropin Receptor\|LGR3\|TSH-R
TSHR	NM_000369.5(TSHR):c.1867_1868delinsAT (p.Ala623Ile)	indel	Thyroid adenoma, hyperfunctioning, somatic	Thyrotropin Receptor\|LGR3\|TSH-R
TSHR	NM_000369.5(TSHR):c.1856A>G (p.Asp619Gly)	single nucleotide variant	Thyroid adenoma, hyperfunctioning, somatic	Thyrotropin Receptor\|LGR3\|TSH-R
TSHR	NM_000369.5(TSHR):c.928C>T (p.Arg310Cys)	single nucleotide variant	not specified	Thyrotropin Receptor\|LGR3\|TSH-R
TSHR	NM_000369.5(TSHR):c.1358T>C (p.Met453Thr)	single nucleotide variant	Hyperthyroidism, nonautoimmune	Thyrotropin Receptor\|LGR3\|TSH-R
TSHR	NM_000369.5(TSHR):c.1798T>C (p.Cys600Arg)	single nucleotide variant	Hypothyroidism due to TSH receptor mutations	Thyrotropin Receptor\|LGR3\|TSH-R
TSHR	TSHR, 2-BP DEL, 654AC	deletion	Hypothyroidism due to TSH receptor mutations	Thyrotropin Receptor\|LGR3\|TSH-R
TSHR	NM_000369.5(TSHR):c.545+3G>C	single nucleotide variant	Hypothyroidism due to TSH receptor mutations	Thyrotropin Receptor\|LGR3\|TSH-R
TSHR	NM_000369.5(TSHR):c.545+2_545+3del	microsatellite	Hypothyroidism, congenital, nongoitrous, 1	Thyrotropin Receptor\|LGR3\|TSH-R
TSHR	NM_000369.5(TSHR):c.1400T>C (p.Leu467Pro)	single nucleotide variant	Hypothyroidism due to TSH receptor mutations	Thyrotropin Receptor\|LGR3\|TSH-R
TSHR	NM_000369.5(TSHR):c.545+5G>T	single nucleotide variant	Hypothyroidism due to TSH receptor mutations	Thyrotropin Receptor\|LGR3\|TSH-R
TSHR	NM_000369.5(TSHR):c.842G>T (p.Ser281Ile)	single nucleotide variant	Thyroid adenoma, hyperfunctioning, somatic	Thyrotropin Receptor\|LGR3\|TSH-R
TSHR	NM_000369.5(TSHR):c.1777del (p.Ala593fs)	deletion	Hypothyroidism, congenital, nongoitrous, 1	Thyrotropin Receptor\|LGR3\|TSH-R
TSHR	NM_000369.5(TSHR):c.500T>A (p.Ile167Asn)	single nucleotide variant	Hypothyroidism due to TSH receptor mutations	Thyrotropin Receptor\|LGR3\|TSH-R
GNRHR	NM_000406.3(GNRHR):c.30T>A (p.Asn10Lys)	single nucleotide variant	Isolated GnRH Deficiency	luteinizing hormone-releasing hormone (LHRH) receptor\|GNRHR1\|LHRH receptor\|Type I GnRHR\|gnRH receptor\|GnRH-R\|GnRH I receptor\|GnRHR\|luliberin receptor\|LHRHR
GNRHR	NM_000406.3(GNRHR):c.842C>T (p.Thr281Ile)	single nucleotide variant	Hypogonadotropic hypogonadism 7 with or without anosmia	luteinizing hormone-releasing hormone (LHRH) receptor\|GNRHR1\|LHRH receptor\|Type I GnRHR\|gnRH receptor\|GnRH-R\|GnRH I receptor\|GnRHR\|luliberin receptor\|LHRHR
GNRHR	NM_000406.3(GNRHR):c.651C>A (p.Ser217Arg)	single nucleotide variant	Hypogonadotropic hypogonadism 7 with or without anosmia	luteinizing hormone-releasing hormone (LHRH) receptor\|GNRHR1\|LHRH receptor\|Type I GnRHR\|gnRH receptor\|GnRH-R\|GnRH I receptor\|GnRHR\|luliberin receptor\|LHRHR
GNRHR	NM_000406.3(GNRHR):c.350T>G (p.Leu117Arg)	single nucleotide variant	Hypogonadotropic hypogonadism 7 with or without anosmia	luteinizing hormone-releasing hormone (LHRH) receptor\|GNRHR1\|LHRH receptor\|Type I GnRHR\|gnRH receptor\|GnRH-R\|GnRH I receptor\|GnRHR\|luliberin receptor\|LHRHR
GNRHR	NM_000406.3(GNRHR):c.941T>A (p.Leu314Ter)	single nucleotide variant	Hypogonadotropic hypogonadism 7 with or without anosmia	luteinizing hormone-releasing hormone (LHRH) receptor\|GNRHR1\|LHRH receptor\|Type I GnRHR\|gnRH receptor\|GnRH-R\|GnRH I receptor\|GnRHR\|luliberin receptor\|LHRHR
GNRHR	NM_000406.3(GNRHR):c.415C>T (p.Arg139Cys)	single nucleotide variant	Hypogonadotropic hypogonadism 7 with or without anosmia	luteinizing hormone-releasing hormone (LHRH) receptor\|GNRHR1\|LHRH receptor\|Type I GnRHR\|gnRH receptor\|GnRH-R\|GnRH I receptor\|GnRHR\|luliberin receptor\|LHRHR
GNRHR	NM_000406.3(GNRHR):c.31C>A (p.Gln11Lys)	single nucleotide variant	Hypogonadotropic hypogonadism 7 with or without anosmia	luteinizing hormone-releasing hormone (LHRH) receptor\|GNRHR1\|LHRH receptor\|Type I GnRHR\|gnRH receptor\|GnRH-R\|GnRH I receptor\|GnRHR\|luliberin receptor\|LHRHR
GNRHR	NM_000406.3(GNRHR):c.94A>G (p.Thr32Ala)	single nucleotide variant	Hypogonadotropic hypogonadism 7 with or without anosmia	luteinizing hormone-releasing hormone (LHRH) receptor\|GNRHR1\|LHRH receptor\|Type I GnRHR\|gnRH receptor\|GnRH-R\|GnRH I receptor\|GnRHR\|luliberin receptor\|LHRHR
GNRHR	NM_000406.3(GNRHR):c.416G>A (p.Arg139His)	single nucleotide variant	Hypogonadotropic hypogonadism 7 with or without anosmia	luteinizing hormone-releasing hormone (LHRH) receptor\|GNRHR1\|LHRH receptor\|Type I GnRHR\|gnRH receptor\|GnRH-R\|GnRH I receptor\|GnRHR\|luliberin receptor\|LHRHR
GNRHR	NM_000406.3(GNRHR):c.511G>A (p.Ala171Thr)	single nucleotide variant	Hypogonadotropic hypogonadism 7 with or without anosmia	luteinizing hormone-releasing hormone (LHRH) receptor\|GNRHR1\|LHRH receptor\|Type I GnRHR\|gnRH receptor\|GnRH-R\|GnRH I receptor\|GnRHR\|luliberin receptor\|LHRHR
GNRHR	NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg)	single nucleotide variant	Isolated congenital hypogonadotropic hypogonadism	luteinizing hormone-releasing hormone (LHRH) receptor\|GNRHR1\|LHRH receptor\|Type I GnRHR\|gnRH receptor\|GnRH-R\|GnRH I receptor\|GnRHR\|luliberin receptor\|LHRHR
GNRHR	NM_000406.3(GNRHR):c.851A>G (p.Tyr284Cys)	single nucleotide variant	Hypogonadotropic hypogonadism 7 with or without anosmia	luteinizing hormone-releasing hormone (LHRH) receptor\|GNRHR1\|LHRH receptor\|Type I GnRHR\|gnRH receptor\|GnRH-R\|GnRH I receptor\|GnRHR\|luliberin receptor\|LHRHR
GNRHR	NM_000406.3(GNRHR):c.523-1G>A	single nucleotide variant	Hypogonadotropic hypogonadism 7 with or without anosmia	luteinizing hormone-releasing hormone (LHRH) receptor\|GNRHR1\|LHRH receptor\|Type I GnRHR\|gnRH receptor\|GnRH-R\|GnRH I receptor\|GnRHR\|luliberin receptor\|LHRHR
GNRHR	NM_000406.3(GNRHR):c.392T>C (p.Met131Thr)	single nucleotide variant	Hypogonadotropic hypogonadism 7 with or without anosmia	luteinizing hormone-releasing hormone (LHRH) receptor\|GNRHR1\|LHRH receptor\|Type I GnRHR\|gnRH receptor\|GnRH-R\|GnRH I receptor\|GnRHR\|luliberin receptor\|LHRHR
GNRHR	NM_000406.3(GNRHR):c.959C>T (p.Pro320Leu)	single nucleotide variant	Hypogonadotropic hypogonadism 7 with or without anosmia	luteinizing hormone-releasing hormone (LHRH) receptor\|GNRHR1\|LHRH receptor\|Type I GnRHR\|gnRH receptor\|GnRH-R\|GnRH I receptor\|GnRHR\|luliberin receptor\|LHRHR
GNRHR	NM_000406.3(GNRHR):c.386C>A (p.Ala129Asp)	single nucleotide variant	Hypogonadotropic hypogonadism 7 with or without anosmia	luteinizing hormone-releasing hormone (LHRH) receptor\|GNRHR1\|LHRH receptor\|Type I GnRHR\|gnRH receptor\|GnRH-R\|GnRH I receptor\|GnRHR\|luliberin receptor\|LHRHR
GNRHR	NM_000406.3(GNRHR):c.806C>T (p.Thr269Met)	single nucleotide variant	Hypogonadotropic hypogonadism 7 with or without anosmia	luteinizing hormone-releasing hormone (LHRH) receptor\|GNRHR1\|LHRH receptor\|Type I GnRHR\|gnRH receptor\|GnRH-R\|GnRH I receptor\|GnRHR\|luliberin receptor\|LHRHR
KISS1R	NM_032551.5(KISS1R):c.443T>C (p.Leu148Ser)	single nucleotide variant	Hypogonadotropic hypogonadism 8 without anosmia	GPR54\|Metastin receptor\|hOT7T175\|kiSS-1 receptor\|kiSS-1R\|KiSS1-derived peptide receptor
KISS1R	NM_032551.5(KISS1R):c.1195T>A (p.Ter399Arg)	single nucleotide variant	Hypogonadotropic hypogonadism 8 without anosmia	GPR54\|Metastin receptor\|hOT7T175\|kiSS-1 receptor\|kiSS-1R\|KiSS1-derived peptide receptor
KISS1R	NM_032551.5(KISS1R):c.969C>A (p.Tyr323Ter)	single nucleotide variant	Abnormality of the genitourinary system	GPR54\|Metastin receptor\|hOT7T175\|kiSS-1 receptor\|kiSS-1R\|KiSS1-derived peptide receptor
KISS1R	NM_032551.5(KISS1R):c.710G>C (p.Arg237Pro)	single nucleotide variant	Pituitary stalk interruption syndrome	GPR54\|Metastin receptor\|hOT7T175\|kiSS-1 receptor\|kiSS-1R\|KiSS1-derived peptide receptor
KISS1R	NM_032551.5(KISS1R):c.937T>C (p.Tyr313His)	single nucleotide variant	Hypogonadotropic hypogonadism 8 without anosmia	GPR54\|Metastin receptor\|hOT7T175\|kiSS-1 receptor\|kiSS-1R\|KiSS1-derived peptide receptor
KISS1R	KISS1R, 155-BP DEL	deletion	Hypogonadotropic hypogonadism 8 without anosmia	GPR54\|Metastin receptor\|hOT7T175\|kiSS-1 receptor\|kiSS-1R\|KiSS1-derived peptide receptor
KISS1R	NM_032551.5(KISS1R):c.991C>T (p.Arg331Ter)	single nucleotide variant	Hypogonadotropic hypogonadism 8 without anosmia	GPR54\|Metastin receptor\|hOT7T175\|kiSS-1 receptor\|kiSS-1R\|KiSS1-derived peptide receptor
S1PR2	NM_004230.4(S1PR2):c.323G>C (p.Arg108Pro)	single nucleotide variant	Deafness, autosomal recessive 68	edg5\|Gpcr13\|endothelial differentiation G protein-coupled receptor 5\|G protein-coupled receptor 13\|GPCR18\|S1P receptor 2
S1PR2	NM_004230.4(S1PR2):c.419A>G (p.Tyr140Cys)	single nucleotide variant	Deafness, autosomal recessive 68	edg5\|Gpcr13\|endothelial differentiation G protein-coupled receptor 5\|G protein-coupled receptor 13\|GPCR18\|S1P receptor 2
MC1R	NM_002386.4(MC1R):c.840del (p.Phe280fs)	deletion	BLOND HAIR/FAIR SKIN	MSH-R\|melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MC1R	NM_002386.4(MC1R):c.894C>G (p.Tyr298Ter)	single nucleotide variant	Skin and Hair Hypopigmentation	MSH-R\|melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MC1R	NM_002386.4(MC1R):c.512C>G (p.Ala171Gly)	single nucleotide variant	Skin and Hair Hypopigmentation	MSH-R\|melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MC2R	NM_000529.2(MC2R):c.424G>T (p.Val142Leu)	single nucleotide variant	Glucocorticoid deficiency, due to ACTH unresponsiveness	ACTHR\|melanocortin 2 receptor\|adrenocorticotropic hormone receptor\|melanocortin 2 receptor (adrenocorticotropic hormone)
MC2R	NM_000529.2(MC2R):c.459dup (p.Ile154fs)	duplication	Glucocorticoid Deficiency	ACTHR\|melanocortin 2 receptor\|adrenocorticotropic hormone receptor\|melanocortin 2 receptor (adrenocorticotropic hormone)
MC2R	NM_000529.2(MC2R):c.409C>T (p.Arg137Trp)	single nucleotide variant	Glucocorticoid Deficiency	ACTHR\|melanocortin 2 receptor\|adrenocorticotropic hormone receptor\|melanocortin 2 receptor (adrenocorticotropic hormone)
MC2R	NM_000529.2(MC2R):c.752G>T (p.Cys251Phe)	single nucleotide variant	FAMILIAL GLUCOCORTICOID DEFICIENCY 1	ACTHR\|melanocortin 2 receptor\|adrenocorticotropic hormone receptor\|melanocortin 2 receptor (adrenocorticotropic hormone)
MC2R	MC2R, 1-BP INS, 1347A	insertion	FAMILIAL GLUCOCORTICOID DEFICIENCY 1	ACTHR\|melanocortin 2 receptor\|adrenocorticotropic hormone receptor\|melanocortin 2 receptor (adrenocorticotropic hormone)
MC2R	NM_000529.2(MC2R):c.319G>A (p.Asp107Asn)	single nucleotide variant	FAMILIAL GLUCOCORTICOID DEFICIENCY 1	ACTHR\|melanocortin 2 receptor\|adrenocorticotropic hormone receptor\|melanocortin 2 receptor (adrenocorticotropic hormone)
MC2R	NM_000529.2(MC2R):c.382C>T (p.Arg128Cys)	single nucleotide variant	FAMILIAL GLUCOCORTICOID DEFICIENCY 1	ACTHR\|melanocortin 2 receptor\|adrenocorticotropic hormone receptor\|melanocortin 2 receptor (adrenocorticotropic hormone)
MC2R	NM_000529.2(MC2R):c.360C>G (p.Ser120Arg)	single nucleotide variant	FAMILIAL GLUCOCORTICOID DEFICIENCY 1	ACTHR\|melanocortin 2 receptor\|adrenocorticotropic hormone receptor\|melanocortin 2 receptor (adrenocorticotropic hormone)
MC2R	NM_000529.2(MC2R):c.676G>C (p.Gly226Arg)	single nucleotide variant	ACTH resistance	ACTHR\|melanocortin 2 receptor\|adrenocorticotropic hormone receptor\|melanocortin 2 receptor (adrenocorticotropic hormone)
MC2R	NM_000529.2(MC2R):c.601C>T (p.Arg201Ter)	single nucleotide variant	FAMILIAL GLUCOCORTICOID DEFICIENCY 1	ACTHR\|melanocortin 2 receptor\|adrenocorticotropic hormone receptor\|melanocortin 2 receptor (adrenocorticotropic hormone)
MC2R	NM_000529.2(MC2R):c.573C>A (p.Cys191Ter)	single nucleotide variant	Glucocorticoid Deficiency	ACTHR\|melanocortin 2 receptor\|adrenocorticotropic hormone receptor\|melanocortin 2 receptor (adrenocorticotropic hormone)
MC2R	NM_000529.2(MC2R):c.376G>T (p.Ala126Ser)	single nucleotide variant	Adrenal unresponsiveness to acth	ACTHR\|melanocortin 2 receptor\|adrenocorticotropic hormone receptor\|melanocortin 2 receptor (adrenocorticotropic hormone)
MC2R	NM_000529.2(MC2R):c.674T>G (p.Leu225Arg)	single nucleotide variant	Glucocorticoid deficiency, due to ACTH unresponsiveness	ACTHR\|melanocortin 2 receptor\|adrenocorticotropic hormone receptor\|melanocortin 2 receptor (adrenocorticotropic hormone)
MC2R	NM_000529.2(MC2R):c.702del (p.Phe235fs)	deletion	Glucocorticoid deficiency, due to ACTH unresponsiveness	ACTHR\|melanocortin 2 receptor\|adrenocorticotropic hormone receptor\|melanocortin 2 receptor (adrenocorticotropic hormone)
MC2R	NM_000529.2(MC2R):c.410G>C (p.Arg137Pro)	single nucleotide variant	Glucocorticoid Deficiency	ACTHR\|melanocortin 2 receptor\|adrenocorticotropic hormone receptor\|melanocortin 2 receptor (adrenocorticotropic hormone)
MC2R	NM_000529.2(MC2R):c.433C>T (p.Arg145Cys)	single nucleotide variant	Glucocorticoid Deficiency	ACTHR\|melanocortin 2 receptor\|adrenocorticotropic hormone receptor\|melanocortin 2 receptor (adrenocorticotropic hormone)
MC2R	NM_000529.2(MC2R):c.465G>C (p.Trp155Cys)	single nucleotide variant	Glucocorticoid Deficiency	ACTHR\|melanocortin 2 receptor\|adrenocorticotropic hormone receptor\|melanocortin 2 receptor (adrenocorticotropic hormone)
MC2R	NM_000529.2(MC2R):c.560del (p.Val187fs)	deletion	Glucocorticoid Deficiency	ACTHR\|melanocortin 2 receptor\|adrenocorticotropic hormone receptor\|melanocortin 2 receptor (adrenocorticotropic hormone)
MC2R	NM_000529.2(MC2R):c.437G>A (p.Arg146His)	single nucleotide variant	Glucocorticoid deficiency 1	ACTHR\|melanocortin 2 receptor\|adrenocorticotropic hormone receptor\|melanocortin 2 receptor (adrenocorticotropic hormone)
MC2R	NM_000529.2(MC2R):c.761A>G (p.Tyr254Cys)	single nucleotide variant	FAMILIAL GLUCOCORTICOID DEFICIENCY 1	ACTHR\|melanocortin 2 receptor\|adrenocorticotropic hormone receptor\|melanocortin 2 receptor (adrenocorticotropic hormone)
MC2R	NM_000529.2(MC2R):c.221G>T (p.Ser74Ile)	single nucleotide variant	Glucocorticoid Deficiency	ACTHR\|melanocortin 2 receptor\|adrenocorticotropic hormone receptor\|melanocortin 2 receptor (adrenocorticotropic hormone)
MC4R	NM_005912.3(MC4R):c.258G>T (p.Leu86Phe)	single nucleotide variant	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4R	NM_005912.3(MC4R):c.496G>A (p.Val166Ile)	single nucleotide variant	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4R	NM_005912.3(MC4R):c.494G>A (p.Arg165Gln)	single nucleotide variant	Obesity
MC4R	NM_005912.3(MC4R):c.861T>A (p.Tyr287Ter)	single nucleotide variant	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4R	NM_005912.3(MC4R):c.831T>A (p.Cys277Ter)	single nucleotide variant	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4R	NM_005912.3(MC4R):c.268G>A (p.Asp90Asn)	single nucleotide variant	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4R	NM_005912.3(MC4R):c.466C>T (p.Gln156Ter)	single nucleotide variant	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4R	GRCh37/hg19 18q21.32(chr18:57940764-58095560)x1	copy number loss	See cases
MC4R	NM_005912.3(MC4R):c.206T>G (p.Ile69Arg)	single nucleotide variant	Obesity, autosomal dominant
MC4R	NM_005912.3(MC4R):c.811T>C (p.Cys271Arg)	single nucleotide variant	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4R	NM_005912.3(MC4R):c.896C>A (p.Pro299His)	single nucleotide variant	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4R	NM_005912.3(MC4R):c.835_836dup (p.Phe280fs)	microsatellite	Obesity disorder
MC4R	NM_005912.3(MC4R):c.538T>C (p.Ser180Pro)	single nucleotide variant	Obesity disorder
MC4R	NM_005912.3(MC4R):c.656C>T (p.Ala219Val)	single nucleotide variant	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4R	MC4R, 15-BP DEL	deletion	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4R	NM_005912.3(MC4R):c.185A>G (p.Asn62Ser)	single nucleotide variant	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4R	NM_005912.3(MC4R):c.289A>G (p.Asn97Asp)	single nucleotide variant	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4R	NM_005912.3(MC4R):c.750_751del (p.Ile251fs)	deletion	Obesity, autosomal dominant
MC4R	NM_005912.3(MC4R):c.305T>G (p.Ile102Ser)	single nucleotide variant	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4R	NM_005912.3(MC4R):c.947T>G (p.Ile316Ser)	single nucleotide variant	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4R	NM_005912.3(MC4R):c.838T>C (p.Phe280Leu)	single nucleotide variant	OBESITY, SUSCEPTIBILITY TO
MC4R	I125K	variation	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4R	NM_005912.3(MC4R):c.812G>A (p.Cys271Tyr)	single nucleotide variant	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4R	MC4R, 4-BP DEL, 211CTCT	deletion	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4R	NM_005912.3(MC4R):c.407C>T (p.Ser136Phe)	single nucleotide variant	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4R	NM_005912.3(MC4R):c.493C>T (p.Arg165Trp)	single nucleotide variant	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4R	NM_005912.3(MC4R):c.542G>A (p.Gly181Asp)	single nucleotide variant	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4R	MC4R, 2-BP INS, 279GT	insertion	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4R	MC4R, 4-BP DEL, NT631	deletion	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4R	NM_005912.3(MC4R):c.449C>T (p.Thr150Ile)	single nucleotide variant	Obesity, autosomal dominant
MC4R	MC4R, 4-BP INS, NT732	insertion	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4R	NM_005912.3(MC4R):c.148G>A (p.Val50Met)	single nucleotide variant	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4R	NM_005912.3(MC4R):c.172A>T (p.Ser58Cys)	single nucleotide variant	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4R	NM_005912.3(MC4R):c.508A>G (p.Ile170Val)	single nucleotide variant	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4R	MC4R, 1-BP INS, 112A	insertion	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
MC4R	NM_005912.3(MC4R):c.181G>A (p.Glu61Lys)	single nucleotide variant	Obesity, autosomal dominant
GRM1	NM_001278064.2(GRM1):c.26dup (p.Ala11fs)	duplication	Autosomal recessive spinocerebellar ataxia 13	GPRC1A\|metabotropic glutamate receptor 1\|wobl\|MGLUR1\|SCAR13\|glutamate receptor, metabotropic 1\|glutamate receptor
GRM1	NM_001278064.2(GRM1):c.1360C>T (p.Leu454Phe)	single nucleotide variant	Autosomal recessive spinocerebellar ataxia 13	GPRC1A\|metabotropic glutamate receptor 1\|wobl\|MGLUR1\|SCAR13\|glutamate receptor, metabotropic 1\|glutamate receptor
GRM1	NM_001278064.2(GRM1):c.3165dup (p.Gly1056fs)	duplication	Spinocerebellar ataxia 44	GPRC1A\|metabotropic glutamate receptor 1\|wobl\|MGLUR1\|SCAR13\|glutamate receptor, metabotropic 1\|glutamate receptor
GRM1	NM_001278064.2(GRM1):c.785A>G (p.Tyr262Cys)	single nucleotide variant	Spinocerebellar ataxia 44	GPRC1A\|metabotropic glutamate receptor 1\|wobl\|MGLUR1\|SCAR13\|glutamate receptor, metabotropic 1\|glutamate receptor
GRM1	NM_001278064.2(GRM1):c.889C>T (p.Arg297Ter)	single nucleotide variant	Autosomal recessive spinocerebellar ataxia 13	GPRC1A\|metabotropic glutamate receptor 1\|wobl\|MGLUR1\|SCAR13\|glutamate receptor, metabotropic 1\|glutamate receptor
GRM6	NM_000843.3(GRM6):c.(1354+1_1355-1)_(2436+1_2437-1)del	deletion	Leber congenital amaurosis	Gprc1f\|mGluR6\|nob4\|nerg1\|nob2\|nob3\|glutamate receptor
GRM6	GRM6, 1-BP INS, 720G	insertion	NIGHT BLINDNESS, CONGENITAL STATIONARY, COMPLETE, AUTOSOMAL RECESSIVE	Gprc1f\|mGluR6\|nob4\|nerg1\|nob2\|nob3\|glutamate receptor
GRM6	NM_000843.4(GRM6):c.577del (p.Val193fs)	deletion	Congenital stationary night blindness	Gprc1f\|mGluR6\|nob4\|nerg1\|nob2\|nob3\|glutamate receptor
GRM6	NM_000843.4(GRM6):c.722-1G>T	single nucleotide variant	NIGHT BLINDNESS, CONGENITAL STATIONARY, COMPLETE, AUTOSOMAL RECESSIVE	Gprc1f\|mGluR6\|nob4\|nerg1\|nob2\|nob3\|glutamate receptor
GRM7	NM_000844.4(GRM7):c.1975C>T (p.Arg659Ter)	single nucleotide variant	Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities	mGluR7\|GLUR7\|GPRC1G\|mGlu7a receptor\|glutamate receptor
GRM7	NM_000844.4(GRM7):c.2024C>A (p.Thr675Lys)	single nucleotide variant	Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities	mGluR7\|GLUR7\|GPRC1G\|mGlu7a receptor\|glutamate receptor
GRM7	NM_000844.4(GRM7):c.1757G>A (p.Trp586Ter)	single nucleotide variant	Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities	mGluR7\|GLUR7\|GPRC1G\|mGlu7a receptor\|glutamate receptor
GRM7	NM_000844.4(GRM7):c.2496T>G (p.Ser832Arg)	single nucleotide variant	Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities	mGluR7\|GLUR7\|GPRC1G\|mGlu7a receptor\|glutamate receptor
GRM7	NM_000844.4(GRM7):c.461T>C (p.Ile154Thr)	single nucleotide variant	Hypoplasia of the corpus callosum	mGluR7\|GLUR7\|GPRC1G\|mGlu7a receptor\|glutamate receptor
GRM7	NM_000844.4(GRM7):c.1972C>T (p.Arg658Trp)	single nucleotide variant	Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities	mGluR7\|GLUR7\|GPRC1G\|mGlu7a receptor\|glutamate receptor
GRM7	NM_000844.4(GRM7):c.2671G>A (p.Glu891Lys)	single nucleotide variant	Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities	mGluR7\|GLUR7\|GPRC1G\|mGlu7a receptor\|glutamate receptor
GRM7	NM_000844.4(GRM7):c.1180G>A (p.Glu394Lys)	single nucleotide variant	Bilateral multifocal epileptiform discharges	mGluR7\|GLUR7\|GPRC1G\|mGlu7a receptor\|glutamate receptor
GRM8	GRCh38/hg38 7q31.33(chr7:126029439-126947804)x1	copy number loss	See cases	Gprc1h\|mGluR8\|GLUR8\|mGluR8b\|glutamate receptor
ACKR1	NM_002036.4(ACKR1):c.286_299del (p.Trp96fs)	deletion	DUFFY NULL; Fy(a-b-)	Duffy antigen/chemokine receptor\|atypical chemokine receptor 1\|CD234\|Dfy\|Duffy blood group, atypical chemokine receptor\|Darc
ACKR1	NM_002036.4(ACKR1):c.265C>T (p.Arg89Cys)	single nucleotide variant	DUFFY BLOOD GROUP SYSTEM, FY(bwk) PHENOTYPE	Duffy antigen/chemokine receptor\|atypical chemokine receptor 1\|CD234\|Dfy\|Duffy blood group, atypical chemokine receptor\|Darc
ACKR1	NM_002036.3(ACKR1):c.-67T>C	single nucleotide variant	Plasmodium vivax, resistance to	Duffy antigen/chemokine receptor\|atypical chemokine receptor 1\|CD234\|Dfy\|Duffy blood group, atypical chemokine receptor\|Darc
OPRM1	NM_000914.5(OPRM1):c.204C>T (p.Ile68=)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2309C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2441T>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2288C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2293del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2324C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2911G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2389G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2905A>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-3052G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2910C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-3090A>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2917T>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2368C>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-3182A>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.268C>T (p.Leu90=)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.224C>T (p.Ala75Val)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*554T>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.290+4del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-3191A>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-3209T>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-3230C>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-3237C>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.223G>C (p.Ala75Pro)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.290+16G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.276_277del (p.Met92fs)	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-3097A>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2942del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.243C>T (p.Cys81=)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.234del (p.Ile79fs)	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.230del (p.Tyr77fs)	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.290+6del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2959del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145279.4(OPRM1):c.-190C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.215C>T (p.Thr72Met)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145279.4(OPRM1):c.-179A>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.-191G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.-265T>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.-172G>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.-148C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.-111del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.-109G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.-105G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.-102C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.193C>T (p.Pro65Ser)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.-167G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10999G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.-281C>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145279.4(OPRM1):c.-59TC[1]	microsatellite	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*596C>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NC_000006.12:g.154010479C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145279.4(OPRM1):c.-427A>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.194C>T (p.Pro65Leu)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.-196G>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*571T>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145279.4(OPRM1):c.-301T>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145279.4(OPRM1):c.-98del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145279.4(OPRM1):c.-191G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2994C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145279.4(OPRM1):c.-194C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145279.4(OPRM1):c.-271del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145279.4(OPRM1):c.-304G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145280.4(OPRM1):c.-11+28170G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145279.4(OPRM1):c.-354G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145279.4(OPRM1):c.-358A>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145279.4(OPRM1):c.-384T>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145279.4(OPRM1):c.-259A>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*544G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*135C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10410C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*133T>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*137C>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.390_391del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*416A>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*129T>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*424T>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*466C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.487_488del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*494del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*511C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*513G>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*515C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*523T>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*446T>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*124C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.132_133del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*55G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.-209G>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*19C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*37G>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*114T>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*94C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*9C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*131T>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1174C>T (p.Leu392=)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-8354T>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-8366G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*108C>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-8425C>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-9688T>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-9696del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*96C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-9741A>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-9737G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-9838del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-9790del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10943G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-9792A>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-9833G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-9875G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-9956del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10452C>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-9965C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10370C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10420C>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10381C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10394G>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10409C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*549del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-9968A>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10411del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10589C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10875C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-9783A>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10915T>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10596C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10606C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10619C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10629T>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10688T>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10672C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10913C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10525G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10912T>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10906A>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10889G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10879C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10924del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.-225T>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.644-83G>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.-237G>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-27C>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-111A>G	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*309T>G	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-119C>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.322_323del	deletion	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*356C>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2251A>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.118A>G (p.Asn40Asp)	single nucleotide variant	Opioid dependence, susceptibility to, 1	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*796C>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*789T>C	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*788G>C	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*764C>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*720C>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*674G>A	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*662T>C	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-12C>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-7C>G	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-3C>G	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-2A>C	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.736C>T (p.Pro246Ser)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.643+18C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-11281G>A	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-9998A>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-11239C>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*291del	deletion	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*286A>G	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*659T>G	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*262C>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*217G>A	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*192T>G	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*183T>C	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*175A>C	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*169C>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*148C>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*138T>C	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*222G>A	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.739G>A (p.Val247Met)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*656G>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*642G>A	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10853del	deletion	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10860C>G	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.-228C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-11189A>C	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10357C>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-125G>A	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10336C>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10248G>A	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-128T>C	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-8234G>A	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-8253G>A	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-8309del	deletion	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-8322G>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-8336C>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-9971C>G	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10840C>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10823C>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10820C>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10800C>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*637C>G	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*600G>A	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*375C>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*338G>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-11280C>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-121T>C	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-127G>A	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*653A>G	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10695A>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10757A>G	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10758A>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10759A>G	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10761C>A	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10777T>C	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10785C>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10799A>C	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10726del	deletion	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-9979C>G	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.742C>T (p.Leu248Phe)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.755T>G (p.Val252Gly)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+168T>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-11335T>C	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-11339G>A	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-11342T>G	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+2097G>A	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+2071G>A	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+2049T>C	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+2048C>A	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+2043T>A	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+2027G>A	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1816del	deletion	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1768A>C	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1753A>C	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1751G>A	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1748A>C	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1738A>C	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+2046G>A	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1709C>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+274A>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+286del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+291C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1650T>C	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+204_1164+205del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1670del	deletion	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1702T>A	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1660C>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1742A>G	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1701G>A	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+273A>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+275del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+270G>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+258C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+224C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+212C>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1705T>C	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+266C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.754G>A (p.Val252Met)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1739A>C	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+164G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+163T>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.643+15C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.643+24G>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+161A>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1039C>T (p.Arg347Ter)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1027G>T (p.Glu343Ter)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.958T>C (p.Trp320Arg)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.866C>A (p.Ala289Asp)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.853C>T (p.Leu285=)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.809C>T (p.Ser270Phe)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.800del (p.Leu267fs)	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.767T>G (p.Leu256Arg)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.762T>G (p.Tyr254Ter)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.760T>A (p.Tyr254Asn)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.757T>G (p.Cys253Gly)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.640C>T (p.Gln214Ter)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2250G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2249G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2208A>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.528G>C (p.Lys176Asn)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+162C>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.629C>T (p.Thr210Ile)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.604C>T (p.Leu202Phe)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.596C>T (p.Ala199Val)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.582G>A (p.Trp194Ter)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.575G>T (p.Cys192Phe)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1727G>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.550C>T (p.Arg184Ter)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.529G>A (p.Ala177Thr)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-11334T>C	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.523G>A (p.Val175Ile)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.506T>G (p.Ile169Ser)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.468C>T (p.Ser156=)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2144G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2204T>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.549C>T (p.Pro183=)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10019del	deletion	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-11182A>C	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10113T>G	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.152del (p.Asp51fs)	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.182C>T (p.Pro61Leu)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.290+18G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.27C>T (p.Asn9=)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.290+22del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.-99T>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145279.4(OPRM1):c.1-11C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145279.4(OPRM1):c.-55A>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145279.4(OPRM1):c.-11C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145279.4(OPRM1):c.-2G>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145279.4(OPRM1):c.-1+11G>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145279.4(OPRM1):c.-1+51G>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145279.4(OPRM1):c.-1+70G>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145279.4(OPRM1):c.1-10C>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145279.4(OPRM1):c.-1+86_-1+87del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145279.4(OPRM1):c.1-128T>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145279.4(OPRM1):c.1-126C>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.78del (p.Ser27fs)	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.74C>A (p.Ala25Glu)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.53C>T (p.Ala18Val)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.7A>G (p.Ser3Gly)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+556del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1583C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1584A>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10072G>A	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1587C>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1591C>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1598G>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1582G>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145279.4(OPRM1):c.1-123G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.345A>T (p.Ala115=)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-31T>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.-35C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.-25C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.-20C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.-14C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.-7C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.-2C>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.-71C>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-28T>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145279.4(OPRM1):c.1-122A>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145279.4(OPRM1):c.1-121T>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145279.4(OPRM1):c.1-17C>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.290+121G>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.290+122G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-3445T>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-3440A>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-3328T>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-3322A>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2628A>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-3321A>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2722G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2900A>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2875G>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2846G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2811T>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2801A>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-3240A>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-11101G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+314A>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10972G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2876A>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1839A>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2529C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2016T>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_001145279.4(OPRM1):c.1-130C>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-11116A>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.290+72C>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.290+118G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2499C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2464G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2462C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2459A>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.290+87G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2139G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2509del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2031C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-1977del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-1976A>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-1972G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-1971G>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-1967A>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-33A>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2049G>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+522del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1585G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+469C>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.643+47A>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.643+40G>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.643+31G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+478A>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.392T>G (p.Leu131Arg)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.644-121T>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.644-25T>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1070_1071del (p.Ser357fs)	microsatellite	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1074C>T (p.Ser358=)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1133C>T (p.Thr378Met)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1149T>C (p.Asp383=)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1150A>G (p.Arg384Gly)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1154C>A (p.Thr385Asn)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1159C>A (p.His387Asn)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164G>A (p.Gln388=)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+9T>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+35G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10127A>C	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10130C>T	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10138A>C	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10170A>G	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10182del	deletion	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10201C>G	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.643+52G>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-10259G>A	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.290+107del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2279C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+83C>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+77T>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+75G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+36G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2259G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.643+88C>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.*669G>A	single nucleotide variant	Ultram response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.643+106T>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.291-2260C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1852G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1855T>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+103del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1906C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1924C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1956A>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1844G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1966C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1978T>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+307del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1995C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+2011A>G	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-11121A>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1165-11117C>T	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1973A>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.388T>A (p.Tyr130Asn)	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1842C>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1834G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+409T>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+427G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+448del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+2004G>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+151del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.1164+1902T>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.644-125T>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.644-129A>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.643+115del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.643+138del	deletion	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.643+154A>C	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.643+109T>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
OPRM1	NM_000914.5(OPRM1):c.643+173T>A	single nucleotide variant	Tramadol response	Mu receptor\|MOP\|OP₃\|MOPr\|opioid receptor, mu 1\|opioid receptor
PTH1R	NM_000316.3(PTH1R):c.310C>T (p.Arg104Ter)	single nucleotide variant	Chondrodysplasia Blomstrand type	PPR\|PTHR\|PTHR1
PTH1R	NM_000316.3(PTH1R):c.395C>T (p.Pro132Leu)	single nucleotide variant	Chondrodysplasia Blomstrand type	PPR\|PTHR\|PTHR1
PTH1R	PTH1R, 1-BP DEL, 1122G	deletion	Chondrodysplasia Blomstrand type	PPR\|PTHR\|PTHR1
PTH1R	NM_000316.3(PTH1R):c.1373T>G (p.Ile458Arg)	single nucleotide variant	Metaphyseal chondrodysplasia, Jansen type	PPR\|PTHR\|PTHR1
PTH1R	NM_000316.3(PTH1R):c.668A>G (p.His223Arg)	single nucleotide variant	Metaphyseal chondrodysplasia Murk Jansen type	PPR\|PTHR\|PTHR1
PTH1R	NM_000316.3(PTH1R):c.1049+29C>T	single nucleotide variant	Chondrodysplasia Blomstrand type	PPR\|PTHR\|PTHR1
PTH1R	NM_000316.3(PTH1R):c.463G>T (p.Glu155Ter)	single nucleotide variant	UNERUPTED SECOND PRIMARY MOLAR	PPR\|PTHR\|PTHR1
PTH1R	NM_000316.3(PTH1R):c.1229C>G (p.Thr410Arg)	single nucleotide variant	Metaphyseal chondrodysplasia, Jansen type	PPR\|PTHR\|PTHR1
PTH1R	NM_000316.3(PTH1R):c.1148G>A (p.Arg383Gln)	single nucleotide variant	Chondrodysplasia Blomstrand type	PPR\|PTHR\|PTHR1
PTH1R	NM_000316.3(PTH1R):c.639-2A>G	single nucleotide variant	Primary failure of tooth eruption	PPR\|PTHR\|PTHR1
PTH1R	NM_000316.3(PTH1R):c.723C>G (p.Asp241Glu)	single nucleotide variant	Pseudohypoparathyroidism	PPR\|PTHR\|PTHR1
PTH1R	NM_000316.3(PTH1R):c.1453C>T (p.Arg485Ter)	single nucleotide variant	Eiken skeletal dysplasia	PPR\|PTHR\|PTHR1
PTH1R	NM_000316.3(PTH1R):c.611T>A (p.Val204Glu)	single nucleotide variant	PRIMARY FAILURE OF TOOTH ERUPTION, NONSYNDROMIC	PPR\|PTHR\|PTHR1
PTH1R	NM_000316.3(PTH1R):c.1228A>C (p.Thr410Pro)	single nucleotide variant	Metaphyseal chondrodysplasia, Jansen type	PPR\|PTHR\|PTHR1
PTH1R	NM_000316.3(PTH1R):c.543+1G>A	single nucleotide variant	UNERUPTED SECOND PRIMARY MOLAR	PPR\|PTHR\|PTHR1
PTH1R	NM_000316.3(PTH1R):c.1050-3C>G	single nucleotide variant	UNERUPTED SECOND PRIMARY MOLAR	PPR\|PTHR\|PTHR1
PTH1R	NM_000316.3(PTH1R):c.1373T>A (p.Ile458Lys)	single nucleotide variant	Metaphyseal chondrodysplasia Murk Jansen type	PPR\|PTHR\|PTHR1
PTH2R	NM_005048.4(PTH2R):c.473C>T (p.Ser158Phe)	single nucleotide variant	Intellectual disability syndrome	PTHR2
PROKR1	NM_138964.4(PROKR1):c.1019T>A (p.Leu340Gln)	single nucleotide variant	Aganglionic megacolon	GPR73a\|VEGFR-1\|ZAQ\|GPR73\|G-protein coupled receptor ZAQ\|G protein-coupled receptor 73
PROKR2	NM_144773.4(PROKR2):c.491G>A (p.Arg164Gln)	single nucleotide variant	PROKR2-Related Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency	GPR73b\|VEGFR-2\|GPR73a\|GPRg2\|I5E
PROKR2	NM_144773.4(PROKR2):c.563C>T (p.Ser188Leu)	single nucleotide variant	Kallmann syndrome 3	GPR73b\|VEGFR-2\|GPR73a\|GPRg2\|I5E
PROKR2	NM_144773.4(PROKR2):c.343G>A (p.Val115Met)	single nucleotide variant	PROKR2-Related Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency	GPR73b\|VEGFR-2\|GPR73a\|GPRg2\|I5E
PROKR2	NM_144773.4(PROKR2):c.969G>A (p.Met323Ile)	single nucleotide variant	HYPOGONADOTROPIC HYPOGONADISM 3 WITH ANOSMIA	GPR73b\|VEGFR-2\|GPR73a\|GPRg2\|I5E
PROKR2	NM_144773.4(PROKR2):c.97T>C (p.Tyr33His)	single nucleotide variant	Kallmann syndrome 3	GPR73b\|VEGFR-2\|GPR73a\|GPRg2\|I5E
PROKR2	NM_144773.4(PROKR2):c.685G>C (p.Gly229Arg)	single nucleotide variant	Kallmann syndrome 3	GPR73b\|VEGFR-2\|GPR73a\|GPRg2\|I5E
PROKR2	NM_144773.4(PROKR2):c.691G>A (p.Glu231Lys)	single nucleotide variant	Kallmann syndrome 3	GPR73b\|VEGFR-2\|GPR73a\|GPRg2\|I5E
TBXA2R	NM_001060.6(TBXA2R):c.787-2A>G	single nucleotide variant	Abnormal platelet aggregation	prostanoid TP receptor\|TXA2-R
TBXA2R	NM_001060.6(TBXA2R):c.548G>A (p.Cys183Tyr)	single nucleotide variant	BLEEDING DISORDER, SUSCEPTIBILITY TO, DUE TO DEFECTIVE PLATELET THROMBOXANE A2 RECEPTOR	prostanoid TP receptor\|TXA2-R
TACR3	NM_001059.3(TACR3):c.692C>T (p.Thr231Ile)	single nucleotide variant	Hypogonadotropic hypogonadism 11 with or without anosmia	Neurokinin B receptor\|neurokinin beta receptor\|Nmkr\|Tac3r\|neuromedin K receptor\|NK-3 receptor\|SP-N receptor
TACR3	NM_001059.3(TACR3):c.766T>C (p.Tyr256His)	single nucleotide variant	HYPOGONADOTROPIC HYPOGONADISM 11 WITHOUT ANOSMIA	Neurokinin B receptor\|neurokinin beta receptor\|Nmkr\|Tac3r\|neuromedin K receptor\|NK-3 receptor\|SP-N receptor
TACR3	NM_001059.3(TACR3):c.623G>A (p.Trp208Ter)	single nucleotide variant	Hypogonadotropic hypogonadism 7 with or without anosmia	Neurokinin B receptor\|neurokinin beta receptor\|Nmkr\|Tac3r\|neuromedin K receptor\|NK-3 receptor\|SP-N receptor
TACR3	NM_001059.3(TACR3):c.511G>C (p.Ala171Pro)	single nucleotide variant	Delayed puberty	Neurokinin B receptor\|neurokinin beta receptor\|Nmkr\|Tac3r\|neuromedin K receptor\|NK-3 receptor\|SP-N receptor
TACR3	NM_001059.3(TACR3):c.278G>A (p.Gly93Asp)	single nucleotide variant	HYPOGONADOTROPIC HYPOGONADISM 11 WITHOUT ANOSMIA	Neurokinin B receptor\|neurokinin beta receptor\|Nmkr\|Tac3r\|neuromedin K receptor\|NK-3 receptor\|SP-N receptor
TACR3	NM_001059.3(TACR3):c.1057C>T (p.Pro353Ser)	single nucleotide variant	HYPOGONADOTROPIC HYPOGONADISM 11 WITHOUT ANOSMIA	Neurokinin B receptor\|neurokinin beta receptor\|Nmkr\|Tac3r\|neuromedin K receptor\|NK-3 receptor\|SP-N receptor
TACR3	NM_001059.3(TACR3):c.737+1G>A	single nucleotide variant	Hypogonadotropic hypogonadism 11 with or without anosmia	Neurokinin B receptor\|neurokinin beta receptor\|Nmkr\|Tac3r\|neuromedin K receptor\|NK-3 receptor\|SP-N receptor
TACR3	NM_001059.3(TACR3):c.824G>A (p.Trp275Ter)	single nucleotide variant	HYPOGONADOTROPIC HYPOGONADISM 11 WITHOUT ANOSMIA	Neurokinin B receptor\|neurokinin beta receptor\|Nmkr\|Tac3r\|neuromedin K receptor\|NK-3 receptor\|SP-N receptor
TRHR	NM_003301.7(TRHR):c.392T>C (p.Ile131Thr)	single nucleotide variant	Hypothyroidism, congenital, nongoitrous, 7	TRH receptor\|thyroliberin receptor\|TRH-R\|TRH-R1
TRHR	NM_003301.7(TRHR):c.242C>G (p.Pro81Arg)	single nucleotide variant	Hypothyroidism, congenital, nongoitrous, 7	TRH receptor\|thyroliberin receptor\|TRH-R\|TRH-R1
TRHR	NM_003301.7(TRHR):c.49C>T (p.Arg17Ter)	single nucleotide variant	Hypothyroidism, congenital, nongoitrous, 7	TRH receptor\|thyroliberin receptor\|TRH-R\|TRH-R1
TRHR	NM_003301.7(TRHR):c.343_352delinsA (p.Ser115_Ala118delinsThr)	indel	Hypothyroidism, congenital, nongoitrous, 7	TRH receptor\|thyroliberin receptor\|TRH-R\|TRH-R1
AVPR2	NM_000054.7(AVPR2):c.738dup (p.Arg247fs)	duplication	Diabetes insipidus nephrogenic type 1	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.602G>A (p.Gly201Asp)	single nucleotide variant	Diabetes insipidus, nephrogenic, X-linked	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.253G>A (p.Asp85Asn)	single nucleotide variant	Diabetes insipidus, nephrogenic, X-linked	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.839A>G (p.Tyr280Cys)	single nucleotide variant	Diabetes insipidus, nephrogenic, X-linked	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.213G>A (p.Trp71Ter)	single nucleotide variant	Diabetes insipidus, nephrogenic, X-linked	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.102del (p.Leu35fs)	deletion	Diabetes insipidus, nephrogenic, X-linked	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.410G>A (p.Arg137His)	single nucleotide variant	Diabetes insipidus, nephrogenic, X-linked	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.541C>T (p.Arg181Cys)	single nucleotide variant	Diabetes insipidus, nephrogenic, X-linked	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.313T>G (p.Phe105Val)	single nucleotide variant	Diabetes insipidus, nephrogenic, X-linked	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.137T>A (p.Ile46Lys)	single nucleotide variant	Diabetes insipidus, nephrogenic, X-linked	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.335G>T (p.Cys112Phe)	single nucleotide variant	Diabetes insipidus nephrogenic type 1	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.410G>T (p.Arg137Leu)	single nucleotide variant	Nephrogenic syndrome of inappropriate antidiuresis	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.176T>C (p.Leu59Pro)	single nucleotide variant	Nephrogenic diabetes insipidus	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.290T>C (p.Leu97Pro)	single nucleotide variant	Nephrogenic diabetes insipidus	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.424del (p.Cys142fs)	deletion	Nephrogenic diabetes insipidus	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.682_683insC (p.Ile228fs)	insertion	Diabetes insipidus nephrogenic type 1	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.878G>A (p.Trp293Ter)	single nucleotide variant	Diabetes insipidus nephrogenic type 1	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.395C>A (p.Ala132Asp)	single nucleotide variant	Diabetes insipidus, nephrogenic, X-linked	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.857C>T (p.Pro286Leu)	single nucleotide variant	Inborn genetic diseases	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.24del (p.Ala9fs)	deletion	Diabetes insipidus, nephrogenic, X-linked	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.809_810del (p.Val270fs)	microsatellite	Diabetes insipidus, nephrogenic, X-linked	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.310C>T (p.Arg104Cys)	single nucleotide variant	Nephrogenic syndrome of inappropriate antidiuresis	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.337C>T (p.Arg113Trp)	single nucleotide variant	Diabetes insipidus, nephrogenic, X-linked	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.472del (p.Arg158fs)	deletion	Nephrogenic diabetes insipidus	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.553G>T (p.Gly185Cys)	single nucleotide variant	Diabetes insipidus, nephrogenic, X-linked	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.832GTC[1] (p.Val279del)	microsatellite	Diabetes insipidus nephrogenic type 1	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.816G>A (p.Met272Ile)	single nucleotide variant	Diabetes insipidus, nephrogenic, X-linked	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.770dup (p.Gly257_Glu258insTer)	duplication	Diabetes insipidus nephrogenic type 1	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.738del (p.Arg247fs)	deletion	Diabetes insipidus, nephrogenic, X-linked	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.554del (p.Gly185fs)	deletion	Nephrogenic diabetes insipidus	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.838dup (p.Tyr280fs)	duplication	Nephrogenic diabetes insipidus	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.752_758del (p.Arg251fs)	deletion	Nephrogenic diabetes insipidus	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.614A>G (p.Tyr205Cys)	single nucleotide variant	Nephrogenic diabetes insipidus	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.966del (p.Trp323fs)	deletion	Nephrogenic Diabetes Insipidus, Type I	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.388A>T (p.Ile130Phe)	single nucleotide variant	Diabetes insipidus nephrogenic type 1	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.819_821del (p.Leu274del)	deletion	Nephrogenic diabetes insipidus	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.963C>A (p.Asn321Lys)	single nucleotide variant	Nephrogenic diabetes insipidus	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.853G>C (p.Ala285Pro)	single nucleotide variant	Nephrogenic diabetes insipidus	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.673C>T (p.Gln225Ter)	single nucleotide variant	Nephrogenic diabetes insipidus	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.814A>G (p.Met272Val)	single nucleotide variant	Diabetes insipidus, nephrogenic, X-linked	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.607C>T (p.Arg203Cys)	single nucleotide variant	Diabetes insipidus, nephrogenic, X-linked	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.409C>G (p.Arg137Gly)	single nucleotide variant	Nephrogenic diabetes insipidus	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.382_384del (p.Tyr128del)	deletion	Diabetes insipidus, nephrogenic, X-linked	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.770del (p.Gly257fs)	deletion	Nephrogenic diabetes insipidus	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
AVPR2	NM_000054.7(AVPR2):c.513C>G (p.Ser171Arg)	single nucleotide variant	Diabetes insipidus nephrogenic type 1	ADHR\|DIR3\|antidiuretic hormone receptor\|renal-type arginine vasopressin receptor
TAS2R38	NM_176817.5(TAS2R38):c.886A>G (p.Ile296Val)	single nucleotide variant	Phenylthiocarbamide tasting	phenylthiocarbamide tasting\|PTC\|T2R61\|taste receptor, type 2, member 38
TAS2R38	NM_176817.5(TAS2R38):c.145G>C (p.Ala49Pro)	single nucleotide variant	Phenylthiocarbamide tasting	phenylthiocarbamide tasting\|PTC\|T2R61\|taste receptor, type 2, member 38
OPN1SW	NM_001708.2(OPN1SW):c.640T>C (p.Ser214Pro)	single nucleotide variant	Tritanopia	opsin 1, short wave sensitive\|opsin 1 (cone pigments), short-wave-sensitive (color blindness, tritan)\|opsin 1\|opsin 1 (cone pigments)
OPN1SW	NM_001708.2(OPN1SW):c.790C>T (p.Pro264Ser)	single nucleotide variant	Tritanopia	opsin 1, short wave sensitive\|opsin 1 (cone pigments), short-wave-sensitive (color blindness, tritan)\|opsin 1\|opsin 1 (cone pigments)
OPN1LW	NM_020061.6(OPN1LW):c.739C>T (p.Arg247Ter)	single nucleotide variant	Color blindness blue mono cone monochromatic type	psin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan)\|opsin 1 (cone pigments)\|opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan)
OPN1LW	NM_020061.6(OPN1LW):c.607T>C (p.Cys203Arg)	single nucleotide variant	Color blindness blue mono cone monochromatic type	psin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan)\|opsin 1 (cone pigments)\|opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan)
OPN1LW	NM_020061.6(OPN1LW):c.1013G>A (p.Gly338Glu)	single nucleotide variant	COLORBLINDNESS, PARTIAL, PROTAN SERIES	psin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan)\|opsin 1 (cone pigments)\|opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan)
OPN1LW	NC_000023.11:g.(154153459_154153462)_(154154925_154154928)del	deletion	Color blindness blue mono cone monochromatic type	psin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan)\|opsin 1 (cone pigments)\|opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan)
OPN1LW	NM_020061.6(OPN1LW):c.269G>A (p.Trp90Ter)	single nucleotide variant	Color blindness blue mono cone monochromatic type	psin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan)\|opsin 1 (cone pigments)\|opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan)
OPN1MW	NM_000513.2(OPN1MW):c.282C>A (p.Asn94Lys)	single nucleotide variant	DEUTAN COLORBLINDNESS	opsin 1 (cone pigments), medium-wave-sensitive\|opsin 1 (cone pigments)\|opsin 1, medium wave sensitive\|opsin 1
OPN1MW	NM_000513.2(OPN1MW):c.607T>C (p.Cys203Arg)	single nucleotide variant	Color blindness blue mono cone monochromatic type	opsin 1 (cone pigments), medium-wave-sensitive\|opsin 1 (cone pigments)\|opsin 1, medium wave sensitive\|opsin 1
OPN1MW	NM_000513.2(OPN1MW):c.989G>A (p.Arg330Gln)	single nucleotide variant	DEUTAN COLORBLINDNESS	opsin 1 (cone pigments), medium-wave-sensitive\|opsin 1 (cone pigments)\|opsin 1, medium wave sensitive\|opsin 1
OPN1MW	NM_000513.2(OPN1MW):c.807_948del (p.Met269fs)	deletion	Achromatopsia	opsin 1 (cone pigments), medium-wave-sensitive\|opsin 1 (cone pigments)\|opsin 1, medium wave sensitive\|opsin 1
OPN1MW	NM_000513.2(OPN1MW):c.529T>C (p.Trp177Arg)	single nucleotide variant	Cone dystrophy 5, X-linked	opsin 1 (cone pigments), medium-wave-sensitive\|opsin 1 (cone pigments)\|opsin 1, medium wave sensitive\|opsin 1
OPN1MW	NM_000513.2(OPN1MW):c.-112A>C	single nucleotide variant	DEUTAN COLORBLINDNESS	opsin 1 (cone pigments), medium-wave-sensitive\|opsin 1 (cone pigments)\|opsin 1, medium wave sensitive\|opsin 1
RHO	NM_000539.3(RHO):c.50C>T (p.Thr17Met)	single nucleotide variant	AllHighlyPenetrant
RHO	NM_000539.3(RHO):c.173C>G (p.Thr58Arg)	single nucleotide variant	Retinal dystrophy
RHO	NM_000539.3(RHO):c.851G>A (p.Gly284Asp)	single nucleotide variant	RETINITIS PIGMENTOSA, RHODOPSIN-RELATED
RHO	NM_000539.3(RHO):c.571T>A (p.Tyr191Asn)	single nucleotide variant	Retinitis pigmentosa 4
RHO	NM_000539.3(RHO):c.1039C>T (p.Pro347Ser)	single nucleotide variant	RP 4
RHO	NM_000539.3(RHO):c.392T>C (p.Leu131Pro)	single nucleotide variant	RP 4
RHO	NM_000539.3(RHO):c.560G>T (p.Cys187Phe)	single nucleotide variant	Retinitis pigmentosa 4
RHO	NM_000539.3(RHO):c.549dup (p.Gln184fs)	duplication	Neuropathy, congenital hypomyelinating, 2
RHO	NM_000539.3(RHO):c.204_215del (p.Arg69_Leu72del)	deletion	RETINITIS PIGMENTOSA, RHODOPSIN-RELATED
RHO	NM_000539.3(RHO):c.647T>G (p.Met216Arg)	single nucleotide variant	Retinal dystrophy
RHO	NM_000539.3(RHO):c.1028G>A (p.Ser343Asn)	single nucleotide variant	RP 4
RHO	NM_000539.3(RHO):c.260T>A (p.Val87Asp)	single nucleotide variant	Fundus albipunctatus
RHO	NM_000539.3(RHO):c.886A>G (p.Lys296Glu)	single nucleotide variant	RP 4
RHO	NM_000539.3(RHO):c.544G>A (p.Gly182Ser)	single nucleotide variant	Retinal dystrophy
RHO	NM_000539.3(RHO):c.800C>T (p.Pro267Leu)	single nucleotide variant	Tapetoretinal degeneration
RHO	NM_000539.3(RHO):c.180C>A (p.Tyr60Ter)	single nucleotide variant	RP 4
RHO	NM_000539.3(RHO):c.979_982del (p.Pro327fs)	deletion	Retinitis pigmentosa
RHO	NM_000539.3(RHO):c.67C>G (p.Pro23Ala)	single nucleotide variant	RP 4
RHO	NM_000539.3(RHO):c.541G>A (p.Glu181Lys)	single nucleotide variant	Retinitis pigmentosa
RHO	NM_000539.3(RHO):c.946del (p.Cys316fs)	deletion	Autosomal dominant retinitis pigmentosa
RHO	NM_000539.3(RHO):c.520G>A (p.Gly174Ser)	single nucleotide variant	Retinitis pigmentosa
RHO	NM_000539.3(RHO):c.482G>A (p.Trp161Ter)	single nucleotide variant	Retinitis pigmentosa 4, autosomal recessive
RHO	NM_000539.3(RHO):c.632A>C (p.His211Pro)	single nucleotide variant	RP 4
RHO	NM_000539.3(RHO):c.68C>A (p.Pro23His)	single nucleotide variant	Retinitis pigmentosa 4
RHO	NM_000539.3(RHO):c.1040C>T (p.Pro347Leu)	single nucleotide variant	Retinal dystrophy
RHO	NM_000539.3(RHO):c.620T>G (p.Met207Arg)	single nucleotide variant	Retinal dystrophy
RHO	NM_000539.3(RHO):c.875C>A (p.Ala292Glu)	single nucleotide variant	Congenital stationary night blindness autosomal dominant 1
RHO	NM_000539.3(RHO):c.891C>G (p.Ser297Arg)	single nucleotide variant	Pigmentary retinal dystrophy
RHO	NM_000539.3(RHO):c.316G>A (p.Gly106Arg)	single nucleotide variant	Retinal dystrophy
RHO	NM_000539.3(RHO):c.158C>G (p.Pro53Arg)	single nucleotide variant	Tapetoretinal degeneration
RHO	NM_000539.3(RHO):c.745G>T (p.Glu249Ter)	single nucleotide variant	Retinal dystrophy
RHO	NM_000539.3(RHO):c.329G>A (p.Cys110Tyr)	single nucleotide variant	Retinal dystrophy
RHO	NM_000539.3(RHO):c.532T>C (p.Tyr178His)	single nucleotide variant	Retinal dystrophy
RHO	NM_000539.3(RHO):c.353_361+3del	deletion	RETINITIS PIGMENTOSA, RHODOPSIN-RELATED
RHO	NM_000539.3(RHO):c.929del (p.Asn310fs)	deletion	RETINITIS PIGMENTOSA, RHODOPSIN-RELATED
RHO	NM_000539.3(RHO):c.886A>C (p.Lys296Gln)	single nucleotide variant	RETINITIS PIGMENTOSA, RHODOPSIN-RELATED
RHO	NM_000539.3(RHO):c.647T>A (p.Met216Lys)	single nucleotide variant	Retinal dystrophy
RHO	NM_000539.3(RHO):c.538C>G (p.Pro180Ala)	single nucleotide variant	Retinal dystrophy
RHO	NM_000539.3(RHO):c.341G>T (p.Gly114Val)	single nucleotide variant	Retinal dystrophy
RHO	NM_000539.3(RHO):c.548_638dup (p.Ile214fs)	duplication	Tapetoretinal degeneration
RHO	NM_000539.3(RHO):c.497C>T (p.Ala166Val)	single nucleotide variant	Tapetoretinal degeneration
RHO	NM_000539.3(RHO):c.563G>A (p.Gly188Glu)	single nucleotide variant	AllHighlyPenetrant
RHO	NM_000539.3(RHO):c.937-2A>T	single nucleotide variant	Retinitis pigmentosa 4
RHO	NM_000539.3(RHO):c.557C>G (p.Ser186Trp)	single nucleotide variant	Retinitis pigmentosa 4
RHO	NM_000539.3(RHO):c.317G>T (p.Gly106Val)	single nucleotide variant	Retinitis pigmentosa 4
RHO	NM_000539.3(RHO):c.45T>G (p.Asn15Lys)	single nucleotide variant	Retinitis pigmentosa 4
RHO	NM_000539.3(RHO):c.908C>G (p.Pro303Arg)	single nucleotide variant	Tapetoretinal degeneration
RHO	NM_000539.3(RHO):c.265G>C (p.Gly89Arg)	single nucleotide variant	Tapetoretinal degeneration
RHO	NM_000539.3(RHO):c.328T>G (p.Cys110Gly)	single nucleotide variant	RP 4
RHO	NM_000539.3(RHO):c.538C>A (p.Pro180Thr)	single nucleotide variant	RP 4
RHO	NM_000539.3(RHO):c.302G>T (p.Gly101Val)	single nucleotide variant	RP 4
RHO	NM_000539.3(RHO):c.325G>A (p.Gly109Arg)	single nucleotide variant	Retinitis pigmentosa 4
RHO	NM_000539.3(RHO):c.152G>T (p.Gly51Val)	single nucleotide variant	Retinal dystrophy
RHO	NM_000539.3(RHO):c.560G>A (p.Cys187Tyr)	single nucleotide variant	Retinitis pigmentosa
RHO	NM_000539.3(RHO):c.977del (p.Asn326fs)	deletion	RETINITIS PIGMENTOSA, RHODOPSIN-RELATED
RHO	NM_000539.3(RHO):c.1040del (p.Pro347fs)	deletion	RETINITIS PIGMENTOSA, RHODOPSIN-RELATED
RHO	NM_000539.3(RHO):c.218A>G (p.Asn73Ser)	single nucleotide variant	Retinitis pigmentosa
RHO	NM_000539.3(RHO):c.362G>T (p.Gly121Val)	single nucleotide variant	Congenital stationary night blindness autosomal dominant 1
RHO	NM_000539.3(RHO):c.545_546delinsAA (p.Gly182Glu)	indel	RETINITIS PIGMENTOSA, RHODOPSIN-RELATED
RHO	NM_000539.3(RHO):c.67C>T (p.Pro23Ser)	single nucleotide variant	RETINITIS PIGMENTOSA, RHODOPSIN-RELATED
RHO	NM_000539.3(RHO):c.559T>C (p.Cys187Arg)	single nucleotide variant	RETINITIS PIGMENTOSA, RHODOPSIN-RELATED
RHO	NM_000539.3(RHO):c.730C>T (p.Gln244Ter)	single nucleotide variant	RETINITIS PIGMENTOSA, RHODOPSIN-RELATED
RHO	NM_000539.3(RHO):c.643C>G (p.Pro215Ala)	single nucleotide variant	RP 4
RHO	NM_000539.3(RHO):c.937-2A>G	single nucleotide variant	RP 4
RHO	NM_000539.3(RHO):c.511C>T (p.Pro171Ser)	single nucleotide variant	Retinal dystrophy
RHO	NM_000539.3(RHO):c.172_173delinsTA (p.Thr58Ter)	indel	Retinal dystrophy
RHO	NM_000539.3(RHO):c.512C>A (p.Pro171Gln)	single nucleotide variant	Tapetoretinal degeneration
RHO	NM_000539.3(RHO):c.673C>T (p.Gln225Ter)	single nucleotide variant	RETINITIS PIGMENTOSA, RHODOPSIN-RELATED
RHO	NM_000539.3(RHO):c.281C>T (p.Thr94Ile)	single nucleotide variant	NIGHT BLINDNESS, CONGENITAL STATIONARY, RHODOPSIN-RELATED