GPR75-ASB3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 150029	GRCh38/hg38 2p16.2(chr2:53520387-53728862)x1	ASB3, GPR75-ASB3	Copy number loss	See cases	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 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 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 3282440	NM_001164165.2(GPR75-ASB3):c.934T>C (p.Cys312Arg)	ASB3, GPR75-ASB3 (C312R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282439	NM_001164165.2(GPR75-ASB3):c.139G>T (p.Asp47Tyr)	ASB3, GPR75-ASB3 (D47Y +1 more)	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 2220868	NM_001008708.4(CHAC2):c.19G>C (p.Gly7Arg)	ASB3, CHAC2 +2 more (G7R)	Single nucleotide variant (missense variant +2 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 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 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 2267051	NM_001008708.4(CHAC2):c.97T>C (p.Trp33Arg)	ASB3, CHAC2 +2 more (W33R)	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 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 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 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 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 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 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 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 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 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 2267370	NM_001008708.4(CHAC2):c.389A>G (p.Gln130Arg)	ASB3, CHAC2 +1 more (Q74R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233646	NM_001008708.4(CHAC2):c.437T>C (p.Phe146Ser)	ASB3, CHAC2 +1 more (F146S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284178	NM_001008708.4(CHAC2):c.446C>G (p.Ala149Gly)	ASB3, CHAC2 +1 more (A149G +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 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 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 3266768	NM_001008708.4(CHAC2):c.541C>T (p.Leu181Phe)	ASB3, CHAC2 +1 more (L125F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276376	NM_015701.5(ERLEC1):c.32T>C (p.Leu11Pro)	ERLEC1, GPR75-ASB3 (L11P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223017	NM_015701.5(ERLEC1):c.88G>C (p.Gly30Arg)	ERLEC1, GPR75-ASB3 (G30R)	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 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 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 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 3276377	NM_015701.5(ERLEC1):c.315G>C (p.Glu105Asp)	ERLEC1, GPR75-ASB3 (E105D)	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 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 830378	NM_015701.5(ERLEC1):c.419C>T (p.Thr140Ile)	ERLEC1, GPR75-ASB3 (T140I)	Single nucleotide variant (missense variant +1 more)	Mandibular prognathia	GLikely pathogenic
Select item 830377	NM_015701.5(ERLEC1):c.419C>G (p.Thr140Ser)	ERLEC1, GPR75-ASB3 (T140S)	Single nucleotide variant (missense variant +1 more)	Mandibular prognathia	GLikely pathogenic
Select item 2257998	NM_015701.5(ERLEC1):c.496G>A (p.Glu166Lys)	ERLEC1, GPR75-ASB3 (E166K)	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 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 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 3090278	NM_015701.5(ERLEC1):c.640A>T (p.Ile214Leu)	ERLEC1, GPR75-ASB3 (I214L)	Single nucleotide variant (intron 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 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 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 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 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 2390649	NM_015701.5(ERLEC1):c.937A>G (p.Ile313Val)	GPR75-ASB3, ERLEC1 (I313V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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 2228362	NM_015701.5(ERLEC1):c.949C>T (p.Pro317Ser)	ERLEC1, GPR75-ASB3 (P317S)	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 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 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 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 775714	NM_015701.5(ERLEC1):c.1062T>C (p.Tyr354=)	ERLEC1, GPR75-ASB3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 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 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 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 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 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 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 830376	NM_015701.5(ERLEC1):c.1237C>T (p.His413Tyr)	ERLEC1, GPR75-ASB3 (H413Y +1 more)	Single nucleotide variant (missense variant +1 more)	Mandibular prognathia	GLikely pathogenic
Select item 2245791	NM_015701.5(ERLEC1):c.1355C>T (p.Pro452Leu)	ERLEC1, GPR75-ASB3 (P398L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287434	NM_015701.5(ERLEC1):c.1367A>G (p.Gln456Arg)	ERLEC1, GPR75-ASB3 (Q456R +2 more)	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
Select item 830379	NM_015701.5(ERLEC1):c.1448A>G (p.Asn483Ser)	ERLEC1, GPR75-ASB3 (N429S +2 more)	Single nucleotide variant (missense variant +1 more)	Mandibular prognathia	GLikely pathogenic
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 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 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 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 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 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 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, GPR75-ASB3 (S457N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282435	NM_006794.4(GPR75):c.1354A>G (p.Lys452Glu)	GPR75, GPR75-ASB3 (K452E)	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 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 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 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 2244108	NM_006794.4(GPR75):c.1214C>G (p.Thr405Ser)	GPR75, GPR75-ASB3 (T405S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282433	NM_006794.4(GPR75):c.1199G>A (p.Cys400Tyr)	GPR75, GPR75-ASB3 (C400Y)	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 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 3042276	NM_006794.4(GPR75):c.1044C>A (p.Ser348Arg)	GPR75, GPR75-ASB3 (S348R)	Single nucleotide variant (missense variant +1 more)	GPR75-related disorder	GBenign
Select item 3101832	NM_006794.4(GPR75):c.1001G>T (p.Cys334Phe)	GPR75, GPR75-ASB3 (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 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 3282438	NM_006794.4(GPR75):c.912G>T (p.Gln304His)	GPR75, GPR75-ASB3 (Q304H)	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 3043624	NM_006794.4(GPR75):c.857G>A (p.Arg286His)	GPR75, GPR75-ASB3 (R286H)	Single nucleotide variant (missense variant +1 more)	GPR75-related disorder	GBenign
Select item 3034752	NM_006794.4(GPR75):c.696C>T (p.Asn232=)	GPR75, GPR75-ASB3	Single nucleotide variant (synonymous variant +1 more)	GPR75-related disorder	GBenign

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