ClinVar for Gene (Select 10936) - ClinVar

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Links from Gene

Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3282441	NM_001164165.2(GPR75-ASB3):c.12G>T (p.Met4Ile)	GPR75, GPR75-ASB3 (M4I)	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 3282437	NM_006794.4(GPR75):c.101A>G (p.Gln34Arg)	GPR75, GPR75-ASB3 (Q34R)	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 3282434	NM_006794.4(GPR75):c.127G>C (p.Val43Leu)	GPR75, GPR75-ASB3 (V43L)	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 3282432	NM_006794.4(GPR75):c.457A>G (p.Asn153Asp)	GPR75, GPR75-ASB3 (N153D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101853	NM_001164165.2(GPR75-ASB3):c.88C>T (p.Arg30Trp)	GPR75, GPR75-ASB3 (R30W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101852	NM_001164165.2(GPR75-ASB3):c.12G>A (p.Met4Ile)	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, GPR75-ASB3 (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, 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 3055543	NM_006794.4(GPR75):c.346G>A (p.Ala116Thr)	GPR75, GPR75-ASB3 (A116T)	Single nucleotide variant (missense variant +1 more)	GPR75-related disorder	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 disorder	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 disorder	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 disorder	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 disorder	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 disorder	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 disorder	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 disorder	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 disorder	GBenign
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 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 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 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 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 2403330	NM_001164165.2(GPR75-ASB3):c.52G>A (p.Gly18Arg)	GPR75, GPR75-ASB3 (G18R)	Single nucleotide variant (missense variant +1 more)	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 2379041	NM_001164165.2(GPR75-ASB3):c.38G>A (p.Arg13Gln)	GPR75, GPR75-ASB3 (R13Q)	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 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 2324137	NM_001164165.2(GPR75-ASB3):c.94C>T (p.Pro32Ser)	GPR75, GPR75-ASB3 (P32S)	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_001164165.2(GPR75-ASB3):c.44C>T (p.Ala15Val)	GPR75, GPR75-ASB3 (A15V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295517	NM_006794.4(GPR75):c.127G>A (p.Val43Met)	GPR75, GPR75-ASB3 (V43M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290894	NM_006794.4(GPR75):c.665A>C (p.Tyr222Ser)	GPR75, GPR75-ASB3 (Y222S)	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 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 814260	GRCh37/hg19 2p16.2(chr2:54063171-54808845)x3	TSPYL6, PSME4 +5 more	Copy number gain	not provided	GLikely benign
Select item 562680	GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3	ABCG5, ABCG8 +100 more	Copy number gain	not provided	GPathogenic
Select item 562635	GRCh37/hg19 2p16.2-16.1(chr2:54079222-55328518)x3	GPR75, TSPYL6 +7 more	Copy number gain	not provided	GLikely benign
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442274	GRCh37/hg19 2p21-16.2(chr2:47361260-54934153)x1	ACYP2, ASB3 +25 more	Copy number loss	See cases	GPathogenic
Select item 402127	GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3	ABCG5, ABCG8 +139 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 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 73