ClinVar for Gene (Select 26595) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3303413	NM_001005467.2(OR8B3):c.149G>T (p.Gly50Val)	OR8B2, OR8B3 (G50V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303412	NM_001005467.2(OR8B3):c.365G>A (p.Arg122His)	OR8B2, OR8B3 (R122H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303411	NM_001005467.2(OR8B3):c.512C>T (p.Ala171Val)	OR8B2, OR8B3 (A171V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3303410	NM_001005467.2(OR8B3):c.267G>C (p.Lys89Asn)	OR8B2, OR8B3 (K89N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3303409	NM_001005468.2(OR8B2):c.350C>T (p.Ser117Leu)	OR8B2 (S117L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206709	NM_001005467.2(OR8B3):c.842T>G (p.Val281Gly)	OR8B2, OR8B3 (V281G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3206708	NM_001005467.2(OR8B3):c.79C>G (p.Leu27Val)	OR8B2, OR8B3 (L27V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206706	NM_001005467.2(OR8B3):c.148G>A (p.Gly50Ser)	OR8B2, OR8B3 (G50S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3206705	NM_001005468.2(OR8B2):c.776A>G (p.Tyr259Cys)	OR8B2 (Y259C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206704	NM_001005468.2(OR8B2):c.764C>T (p.Ala255Val)	OR8B2 (A255V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206703	NM_001005468.2(OR8B2):c.734T>G (p.Val245Gly)	OR8B2 (V245G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206702	NM_001005468.2(OR8B2):c.626T>C (p.Val209Ala)	OR8B2 (V209A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206701	NM_001005468.2(OR8B2):c.35T>C (p.Phe12Ser)	OR8B2 (F12S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206700	NM_001005468.2(OR8B2):c.322G>A (p.Val108Ile)	OR8B2 (V108I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206698	NM_001005468.2(OR8B2):c.280A>T (p.Asn94Tyr)	OR8B2 (N94Y)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3206697	NM_001005468.2(OR8B2):c.113C>A (p.Thr38Asn)	OR8B2 (T38N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148862	GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 3063218	GRCh37/hg19 11q24.1-25(chr11:123523103-134938470)x1	ACAD8, ACRV1 +92 more	Copy number loss	not specified	GPathogenic
Select item 3063194	GRCh37/hg19 11q24.1-25(chr11:121423232-134938470)x1	ACAD8, ACRV1 +104 more	Copy number loss	not specified	GPathogenic
Select item 3063186	GRCh37/hg19 11q23.3-24.2(chr11:121183636-127620828)x1	ACRV1, BLID +73 more	Copy number loss	not specified	GPathogenic
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2623510	NM_001005467.2(OR8B3):c.710C>T (p.Ala237Val)	OR8B2, OR8B3 (A237V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561391	NM_001005467.2(OR8B3):c.802G>C (p.Glu268Gln)	OR8B2, OR8B3 (E268Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559317	NM_001005468.2(OR8B2):c.277T>G (p.Ser93Ala)	OR8B2 (S93A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559129	NM_001005468.2(OR8B2):c.859C>T (p.Leu287Phe)	OR8B2 (L287F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554099	NM_001005467.2(OR8B3):c.895G>C (p.Ala299Pro)	OR8B2, OR8B3 (A299P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544452	NM_001005468.2(OR8B2):c.138C>G (p.Ile46Met)	OR8B2 (I46M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522645	NM_001005467.2(OR8B3):c.488T>C (p.Met163Thr)	OR8B2, OR8B3 (M163T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518720	NM_001005467.2(OR8B3):c.289T>C (p.Cys97Arg)	OR8B2, OR8B3 (C97R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512400	NM_001005467.2(OR8B3):c.470C>T (p.Thr157Met)	OR8B2, OR8B3 (T157M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506544	GRCh37/hg19 11q23.3-25(chr11:120531028-134257553)	JHY, RPUSD4 +107 more	Copy number loss	11q partial monosomy syndrome	GPathogenic
Select item 2492699	NM_001005468.2(OR8B2):c.302T>A (p.Leu101Gln)	OR8B2 (L101Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463398	NM_001005468.2(OR8B2):c.71G>A (p.Arg24Gln)	OR8B2 (R24Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2459891	NM_001005468.2(OR8B2):c.499A>C (p.Thr167Pro)	OR8B2 (T167P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426317	NC_000011.9:g.(?_123504851)_(126163012_?)del	ACRV1, CCDC15 +56 more	Deletion	not provided	GUncertain significance
Select item 2395052	NM_001005467.2(OR8B3):c.394T>C (p.Tyr132His)	OR8B2, OR8B3 (Y132H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390546	NM_001005468.2(OR8B2):c.119T>C (p.Val40Ala)	OR8B2 (V40A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387124	NM_001005467.2(OR8B3):c.815T>G (p.Val272Gly)	OR8B2, OR8B3 (V272G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383686	NM_001005467.2(OR8B3):c.299A>G (p.Gln100Arg)	OR8B2, OR8B3 (Q100R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377346	NM_001005468.2(OR8B2):c.473C>A (p.Ala158Asp)	OR8B2 (A158D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370278	NM_001005468.2(OR8B2):c.937T>C (p.Phe313Leu)	OR8B2 (F313L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339056	NM_001005467.2(OR8B3):c.623T>A (p.Met208Lys)	OR8B2, OR8B3 (M208K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321766	NM_001005468.2(OR8B2):c.142C>A (p.Leu48Ile)	OR8B2 (L48I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315978	NM_001005468.2(OR8B2):c.53C>T (p.Thr18Ile)	OR8B2 (T18I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298260	NM_001005468.2(OR8B2):c.668C>G (p.Thr223Ser)	OR8B2 (T223S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297089	NM_001005468.2(OR8B2):c.117G>A (p.Met39Ile)	OR8B2 (M39I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295076	NM_001005468.2(OR8B2):c.585C>A (p.Asn195Lys)	OR8B2 (N195K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264988	NM_001005467.2(OR8B3):c.828C>G (p.Phe276Leu)	OR8B2, OR8B3 (F276L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263327	NM_001005468.2(OR8B2):c.76C>A (p.Pro26Thr)	OR8B2 (P26T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257209	NM_001005467.2(OR8B3):c.607G>A (p.Val203Met)	OR8B2, OR8B3 (V203M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238910	NM_001005467.2(OR8B3):c.818C>T (p.Ser273Phe)	OR8B2, OR8B3 (S273F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226023	NM_001005468.2(OR8B2):c.269A>T (p.Asn90Ile)	OR8B2 (N90I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216709	NM_001005468.2(OR8B2):c.470C>T (p.Thr157Met)	OR8B2 (T157M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808652	GRCh37/hg19 11q24.1-25(chr11:122975824-134938470)x1	ACAD8, ACRV1 +94 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1375927	NC_000011.9:g.(?_123504851)_(126163012_?)dup	ACRV1, CCDC15 +56 more	Duplication	Holoprosencephaly 11	GUncertain significance
Select item 1341168	GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3	ABCG4, ACRV1 +172 more	Copy number gain	not provided	GPathogenic
Select item 973579	NC_000011.9:g.104288964_134937416dup	VSIG2, VWA5A +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 815477	GRCh37/hg19 11q24.2-25(chr11:124232608-134938470)x1	LINC02743, VSIG2 +74 more	Copy number loss	not provided	GPathogenic
Select item 815475	GRCh37/hg19 11q23.3-25(chr11:120742540-134938470)x1	ACAD8, ACRV1 +108 more	Copy number loss	not provided	GPathogenic
Select item 812956	Single allele	APLP2, LINC02873 +169 more	Deletion	Anemia +7 more	GLikely pathogenic
Select item 812909	Single allele	ACAD8, ACRV1 +74 more	Deletion	Paris-Trousseau thrombocytopenia	GPathogenic
Select item 687452	GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3	CD3G, CDON +160 more	Copy number gain	not provided	GPathogenic
Select item 638099	GRCh37/hg19 11q23.3-25(chr11:120576984-134934063)x1	ACAD8, ACRV1 +108 more	Copy number loss	See cases	GPathogenic
Select item 625808	GRCh37/hg19 11q23.3-25(chr11:116700253-134904063)	BACE1, BACE1-AS +176 more	Copy number gain	not provided	GPathogenic
Select item 625659	GRCh37/hg19 11q23.3-25(chr11:116691675-134889485)	ARHGAP32, ARHGEF12 +177 more	Copy number gain	not provided	GPathogenic
Select item 563884	GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 563882	GRCh37/hg19 11q23.3-25(chr11:119538664-134938470)x1	ACAD8, ACRV1 +114 more	Copy number loss	not provided	GPathogenic
Select item 545140	Single allele	ABCG4, ACAD8 +608 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 443847	GRCh37/hg19 11q24.1-25(chr11:122884694-134938470)x3	CHEK1, CLMP +95 more	Copy number gain	See cases	GPathogenic
Select item 443289	GRCh37/hg19 11q23.3-25(chr11:120527021-134938470)x1	ACAD8, ACRV1 +108 more	Copy number loss	See cases	GPathogenic
Select item 442908	GRCh37/hg19 11q24.1-25(chr11:121416261-134938470)x1	ACAD8, ACRV1 +104 more	Copy number loss	See cases	GPathogenic
Select item 442155	GRCh37/hg19 11q23.3-25(chr11:121136603-134938470)x1	ACAD8, ACRV1 +105 more	Copy number loss	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441664	GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	ABCG4, ACAD8 +177 more	Copy number gain	See cases	GPathogenic
Select item 393778	GRCh37/hg19 11q24.1-25(chr11:121501072-134868348)x1	PATE2, PATE3 +104 more	Copy number loss	See cases	GPathogenic
Select item 253601	GRCh37/hg19 11q23.3-25(chr11:119807473-134868407)x1	ACAD8, ACRV1 +113 more	Copy number loss	See cases	GPathogenic
Select item 253521	GRCh37/hg19 11q23.3-25(chr11:120615374-134868407)x1	CCDC15, CDON +108 more	Copy number loss	See cases	GPathogenic
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 154045	GRCh38/hg38 11q24.1-25(chr11:121806547-135068576)x1	ACAD8, ACRV1 +439 more	Copy number loss	See cases	GPathogenic
Select item 154016	GRCh38/hg38 11q24.1-25(chr11:121611476-135068576)x1	LOC126861375, LOC126861376 +444 more	Copy number loss	See cases	GPathogenic
Select item 152641	GRCh38/hg38 11q24.1-24.2(chr11:123543649-124802201)x3	ESAM, ESAM-AS1 +59 more	Copy number gain	See cases	GUncertain significance
Select item 151354	GRCh38/hg38 11q23.3-24.2(chr11:120080142-125829106)x1	ACRV1, ARHGEF12 +255 more	Copy number loss	See cases	GPathogenic
Select item 151164	GRCh38/hg38 11q24.2-25(chr11:124315025-134818116)x1	ACAD8, ACRV1 +343 more	Copy number loss	See cases	GPathogenic
Select item 150820	GRCh38/hg38 11q24.1-25(chr11:121689052-135075271)x1	ACAD8, ACRV1 +442 more	Copy number loss	See cases	GPathogenic
Select item 150522	GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3	LOC130007002, LOC130007003 +499 more	Copy number gain	See cases	GPathogenic
Select item 150032	GRCh38/hg38 11q23.3-25(chr11:119424297-135075271)x1	LOC130006995, LOC130006996 +551 more	Copy number loss	See cases	GPathogenic
Select item 149547	GRCh38/hg38 11q24.1-25(chr11:123963074-135075271)x1	ACAD8, ACRV1 +363 more	Copy number loss	See cases	GPathogenic
Select item 149328	GRCh38/hg38 11q23.3-25(chr11:120515759-135075271)x1	ACAD8, ACRV1 +497 more	Copy number loss	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	ABCG4, ACAD8 +769 more	Copy number gain	See cases	GPathogenic
Select item 148952	GRCh38/hg38 11q24.1-25(chr11:121780459-135075271)x1	ACAD8, ACRV1 +440 more	Copy number loss	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	BCL9L, BLID +774 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	LOC130006864, LOC130006865 +763 more	Copy number gain	See cases	GPathogenic
Select item 147400	GRCh38/hg38 11q24.1-24.2(chr11:122182443-125957977)x1	ACRV1, BSX +166 more	Copy number loss	See cases	GPathogenic
Select item 145337	GRCh38/hg38 11q24.2-25(chr11:124205225-134998526)x1	ACAD8, ACRV1 +352 more	Copy number loss	See cases	GPathogenic
Select item 145308	GRCh38/hg38 11q24.1-25(chr11:123799938-134998526)x1	ACAD8, ACRV1 +368 more	Copy number loss	See cases	GPathogenic
Select item 145002	GRCh38/hg38 11q23.3-24.2(chr11:120426093-124771213)x1	ARHGEF12, BLID +184 more	Copy number loss	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 59777	GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3	OR8G5, PANX3 +519 more	Copy number gain	See cases	GPathogenic

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