Related gene-specific medical variations for Gene (Select 100302652) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3143991	NM_001008708.4(CHAC2):c.77C>T (p.Thr26Ile)	ASB3, CHAC2 +2 more (T26I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3143990	NM_001008708.4(CHAC2):c.538A>C (p.Asn180His)	ASB3, CHAC2 +1 more (N124H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143988	NM_001008708.4(CHAC2):c.38T>C (p.Val13Ala)	ASB3, CHAC2 +2 more (V13A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3143987	NM_001008708.4(CHAC2):c.347C>G (p.Pro116Arg)	ASB3, CHAC2 +1 more (P116R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143986	NM_001008708.4(CHAC2):c.212A>G (p.Lys71Arg)	ASB3, CHAC2 +1 more (K71R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143985	NM_001008708.4(CHAC2):c.107G>C (p.Ser36Thr)	ASB3, CHAC2 +2 more (S36T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3143984	NM_001008708.4(CHAC2):c.106A>C (p.Ser36Arg)	ASB3, CHAC2 +2 more (S36R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3143983	NM_001008708.4(CHAC2):c.104G>A (p.Gly35Asp)	ASB3, CHAC2 +2 more (G35D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3101853	NM_006794.4(GPR75):c.-123C>T	GPR75, GPR75-ASB3 (R30W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101852	NM_006794.4(GPR75):c.-199G>A	GPR75, GPR75-ASB3 (M4I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101851	NM_006794.4(GPR75):c.977T>C (p.Ile326Thr)	GPR75, GPR75-ASB3 (I326T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101850	NM_006794.4(GPR75):c.905G>A (p.Arg302Gln)	GPR75, GPR75-ASB3 (R302Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101848	NM_006794.4(GPR75):c.670A>G (p.Met224Val)	GPR75, GPR75-ASB3 (M224V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101847	NM_006794.4(GPR75):c.499C>T (p.Leu167Phe)	GPR75, GPR75-ASB3 (L167F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101846	NM_006794.4(GPR75):c.461G>T (p.Arg154Leu)	GPR75, GPR75-ASB3 (R154L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101844	NM_006794.4(GPR75):c.433C>T (p.Arg145Trp)	GPR75, GPR75-ASB3 (R145W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101843	NM_006794.4(GPR75):c.41C>G (p.Thr14Ser)	GPR75, GPR75-ASB3 (T14S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101842	NM_006794.4(GPR75):c.359C>G (p.Thr120Ser)	GPR75, GPR75-ASB3 (T120S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101841	NM_006794.4(GPR75):c.276C>G (p.Phe92Leu)	GPR75, GPR75-ASB3 (F92L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101840	NM_006794.4(GPR75):c.274T>C (p.Phe92Leu)	GPR75, GPR75-ASB3 (F92L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101839	NM_006794.4(GPR75):c.226A>G (p.Arg76Gly)	GPR75, GPR75-ASB3 (R76G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101838	NM_006794.4(GPR75):c.1618G>A (p.Val540Ile)	GPR75, GPR75-ASB3 (V540I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101837	NM_006794.4(GPR75):c.1433G>A (p.Arg478Gln)	GPR75, GPR75-ASB3 (R478Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101836	NM_006794.4(GPR75):c.1405C>G (p.Gln469Glu)	GPR75, GPR75-ASB3 (Q469E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101835	NM_006794.4(GPR75):c.1399T>A (p.Cys467Ser)	GPR75, GPR75-ASB3 (C467S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101834	NM_006794.4(GPR75):c.1370G>A (p.Ser457Asn)	GPR75-ASB3, GPR75 (S457N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101833	NM_006794.4(GPR75):c.1223G>A (p.Arg408Gln)	GPR75, GPR75-ASB3 (R408Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101832	NM_006794.4(GPR75):c.1001G>T (p.Cys334Phe)	GPR75-ASB3, GPR75 (C334F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101831	NM_006794.4(GPR75):c.1001G>A (p.Cys334Tyr)	GPR75, GPR75-ASB3 (C334Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090280	NM_015701.5(ERLEC1):c.962T>C (p.Val321Ala)	ERLEC1, GPR75-ASB3 (V321A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090279	NM_015701.5(ERLEC1):c.947A>G (p.Gln316Arg)	ERLEC1, GPR75-ASB3 (Q316R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090278	NM_015701.5(ERLEC1):c.640A>T (p.Ile214Leu)	ERLEC1, GPR75-ASB3 (I214L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090277	NM_015701.5(ERLEC1):c.550C>G (p.Gln184Glu)	ERLEC1, GPR75-ASB3 (Q184E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090276	NM_015701.5(ERLEC1):c.347G>C (p.Arg116Thr)	ERLEC1, GPR75-ASB3 (R116T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090275	NM_015701.5(ERLEC1):c.338G>T (p.Cys113Phe)	ERLEC1, GPR75-ASB3 (C113F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090274	NM_015701.5(ERLEC1):c.290G>T (p.Gly97Val)	ERLEC1, GPR75-ASB3 (G97V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090273	NM_015701.5(ERLEC1):c.281A>G (p.Asp94Gly)	ERLEC1, GPR75-ASB3 (D94G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090272	NM_015701.5(ERLEC1):c.1231G>A (p.Val411Met)	ERLEC1, GPR75-ASB3 (V411M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090271	NM_015701.5(ERLEC1):c.1181C>T (p.Thr394Ile)	ERLEC1, GPR75-ASB3 (T394I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090270	NM_015701.5(ERLEC1):c.1150G>A (p.Glu384Lys)	ERLEC1, GPR75-ASB3 (E330K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3055543	NM_006794.4(GPR75):c.346G>A (p.Ala116Thr)	GPR75, GPR75-ASB3 (A116T)	Single nucleotide variant (missense variant +1 more)	GPR75-related condition	GBenign
Select item 3055252	NM_006794.4(GPR75):c.478T>G (p.Cys160Gly)	GPR75, GPR75-ASB3 (C160G)	Single nucleotide variant (missense variant +1 more)	GPR75-related condition	GBenign
Select item 3052821	NM_006794.4(GPR75):c.33C>A (p.Pro11=)	GPR75, GPR75-ASB3	Single nucleotide variant (synonymous variant +1 more)	GPR75-related condition	GLikely benign
Select item 3049391	NM_006794.4(GPR75):c.693G>A (p.Lys231=)	GPR75, GPR75-ASB3	Single nucleotide variant (synonymous variant +1 more)	GPR75-related condition	GLikely benign
Select item 3044206	NM_006794.4(GPR75):c.690G>A (p.Arg230=)	GPR75, GPR75-ASB3	Single nucleotide variant (synonymous variant +1 more)	GPR75-related condition	GLikely benign
Select item 3043624	NM_006794.4(GPR75):c.857G>A (p.Arg286His)	GPR75, GPR75-ASB3 (R286H)	Single nucleotide variant (missense variant +1 more)	GPR75-related condition	GBenign
Select item 3042276	NM_006794.4(GPR75):c.1044C>A (p.Ser348Arg)	GPR75, GPR75-ASB3 (S348R)	Single nucleotide variant (missense variant +1 more)	GPR75-related condition	GBenign
Select item 3040357	NM_006794.4(GPR75):c.546A>G (p.Lys182=)	GPR75, GPR75-ASB3	Single nucleotide variant (synonymous variant +1 more)	GPR75-related condition	GLikely benign
Select item 3034752	NM_006794.4(GPR75):c.696C>T (p.Asn232=)	GPR75, GPR75-ASB3	Single nucleotide variant (synonymous variant +1 more)	GPR75-related condition	GBenign
Select item 2650912	NM_015701.5(ERLEC1):c.856G>A (p.Val286Met)	ERLEC1, GPR75-ASB3 (V286M)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2623190	NM_001008708.4(CHAC2):c.61C>G (p.Leu21Val)	ASB3, CHAC2 +2 more (L21V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2618258	NM_006794.4(GPR75):c.1093A>G (p.Ile365Val)	GPR75, GPR75-ASB3 (I365V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609442	NM_006794.4(GPR75):c.1435A>C (p.Ile479Leu)	GPR75, GPR75-ASB3 (I479L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602838	NM_006794.4(GPR75):c.460C>T (p.Arg154Cys)	GPR75, GPR75-ASB3 (R154C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602559	NM_016115.5(ASB3):c.881A>G (p.Asp294Gly)	ASB3, GPR75-ASB3 (D332G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592483	NM_015701.5(ERLEC1):c.1104C>G (p.Asp368Glu)	ERLEC1, GPR75-ASB3 (D368E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590570	NM_015701.5(ERLEC1):c.504A>C (p.Glu168Asp)	ERLEC1, GPR75-ASB3 (E168D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2568948	NM_015701.5(ERLEC1):c.983A>G (p.Lys328Arg)	ERLEC1, GPR75-ASB3 (K328R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558986	NM_001008708.4(CHAC2):c.380T>C (p.Ile127Thr)	ASB3, CHAC2 +1 more (I71T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558004	NM_015701.5(ERLEC1):c.1096C>T (p.His366Tyr)	ERLEC1, GPR75-ASB3 (H366Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556235	NM_015701.5(ERLEC1):c.895A>G (p.Thr299Ala)	ERLEC1, GPR75-ASB3 (T299A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548019	NM_015701.5(ERLEC1):c.953T>C (p.Val318Ala)	ERLEC1, GPR75-ASB3 (V318A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537881	NM_015701.5(ERLEC1):c.613C>T (p.Arg205Trp)	ERLEC1, GPR75-ASB3 (R205W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532761	NM_006794.4(GPR75):c.1322T>C (p.Phe441Ser)	GPR75, GPR75-ASB3 (F441S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530863	NM_006794.4(GPR75):c.614C>A (p.Ser205Tyr)	GPR75, GPR75-ASB3 (S205Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527843	NM_006794.4(GPR75):c.1291T>G (p.Tyr431Asp)	GPR75, GPR75-ASB3 (Y431D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527604	NM_016115.5(ASB3):c.926A>G (p.Gln309Arg)	ASB3, GPR75-ASB3 (Q236R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527144	NM_006794.4(GPR75):c.667A>C (p.Ile223Leu)	GPR75, GPR75-ASB3 (I223L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519185	NM_001008708.4(CHAC2):c.223G>A (p.Val75Ile)	ASB3, CHAC2 +1 more (V75I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517851	NM_015701.5(ERLEC1):c.1079A>G (p.Lys360Arg)	ERLEC1, GPR75-ASB3 (K306R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514034	NM_015701.5(ERLEC1):c.1037G>T (p.Arg346Leu)	ERLEC1, GPR75-ASB3 (R346L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511142	NM_015701.5(ERLEC1):c.851T>C (p.Leu284Pro)	ERLEC1, GPR75-ASB3 (L284P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473651	NM_006794.4(GPR75):c.1615T>C (p.Ser539Pro)	GPR75, GPR75-ASB3 (S539P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473413	NM_015701.5(ERLEC1):c.917C>T (p.Ala306Val)	ERLEC1, GPR75-ASB3 (A306V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472370	NM_015701.5(ERLEC1):c.1114G>A (p.Gly372Arg)	ERLEC1, GPR75-ASB3 (G372R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469404	NM_006794.4(GPR75):c.1427A>G (p.Asn476Ser)	GPR75, GPR75-ASB3 (N476S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461022	NM_001008708.4(CHAC2):c.108C>G (p.Ser36Arg)	ASB3, CHAC2 +2 more (S36R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2403330	NM_006794.4(GPR75):c.-159G>A	GPR75, GPR75-ASB3 (G18R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398435	NM_015701.5(ERLEC1):c.286A>C (p.Lys96Gln)	ERLEC1, GPR75-ASB3 (K96Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394015	NM_016115.5(ASB3):c.1334G>A (p.Arg445His)	ASB3, GPR75-ASB3 (R372H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391637	NM_006794.4(GPR75):c.459T>A (p.Asn153Lys)	GPR75, GPR75-ASB3 (N153K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390649	NM_015701.5(ERLEC1):c.937A>G (p.Ile313Val)	ERLEC1, GPR75-ASB3 (I313V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2387664	NM_001008708.4(CHAC2):c.482A>T (p.Asp161Val)	ASB3, CHAC2 +1 more (D105V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386706	NM_015701.5(ERLEC1):c.1169C>T (p.Ala390Val)	ERLEC1, GPR75-ASB3 (A336V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379041	NM_006794.4(GPR75):c.-173G>A	GPR75, GPR75-ASB3 (R13Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376770	NM_001008708.4(CHAC2):c.6G>C (p.Trp2Cys)	ASB3, CHAC2 +2 more (W2C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2366335	NM_006794.4(GPR75):c.1457A>G (p.Tyr486Cys)	GPR75, GPR75-ASB3 (Y486C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363953	NM_015701.5(ERLEC1):c.706G>A (p.Val236Ile)	ERLEC1, GPR75-ASB3 (V236I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340534	NM_015701.5(ERLEC1):c.108A>C (p.Gln36His)	ERLEC1, GPR75-ASB3 (Q36H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337874	NM_006794.4(GPR75):c.470C>T (p.Ser157Phe)	GPR75, GPR75-ASB3 (S157F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330142	NM_006794.4(GPR75):c.1265C>A (p.Ser422Tyr)	GPR75, GPR75-ASB3 (S422Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330033	NM_001008708.4(CHAC2):c.311T>G (p.Phe104Cys)	ASB3, CHAC2 +1 more (F104C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324137	NM_006794.4(GPR75):c.-117C>T	GPR75, GPR75-ASB3 (P32S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314202	NM_001008708.4(CHAC2):c.190G>A (p.Ala64Thr)	ASB3, CHAC2 +1 more (A64T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312486	NM_001008708.4(CHAC2):c.454A>G (p.Ile152Val)	ASB3, CHAC2 +1 more (I96V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304201	NM_006794.4(GPR75):c.1094T>C (p.Ile365Thr)	GPR75, GPR75-ASB3 (I365T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299093	NM_006794.4(GPR75):c.604G>A (p.Ala202Thr)	GPR75, GPR75-ASB3 (A202T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298622	NM_006794.4(GPR75):c.67G>A (p.Glu23Lys)	GPR75, GPR75-ASB3 (E23K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296991	NM_006794.4(GPR75):c.-167C>T	GPR75, GPR75-ASB3 (A15V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296847	NM_015701.5(ERLEC1):c.1435C>A (p.Leu479Ile)	ERLEC1, GPR75-ASB3 (L425I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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