ClinVar for Gene (Select 857) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3263577	NM_001753.5(CAV1):c.172C>T (p.His58Tyr)	CAV1, LOC129999169 (H58Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3245815	NC_000007.13:g.(?_116165117)_(116199341_?)dup	CAV1	Duplication	Pulmonary hypertension, primary, 3	GUncertain significance
Select item 3245814	NC_000007.13:g.(?_116165117)_(116199341_?)del	CAV1	Deletion	Pulmonary hypertension, primary, 3	GUncertain significance
Select item 3245669	NC_000007.13:g.(?_116165117)_(117307162_?)del	ASZ1, CAPZA2 +8 more	Deletion	Cystic fibrosis	GPathogenic
Select item 3245623	NC_000007.13:g.(?_116165117)_(116340358_?)dup	CAV1, MET	Duplication	Renal cell carcinoma	GUncertain significance
Select item 3221779	NM_001753.5(CAV1):c.9G>A (p.Gly3=)	CAV1	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3221778	NM_001753.5(CAV1):c.525G>C (p.Gln175His)	CAV1 (Q144H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221777	NM_001753.5(CAV1):c.502A>G (p.Ser168Gly)	CAV1 (S137G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221775	NM_001753.5(CAV1):c.187G>T (p.Val63Leu)	CAV1, LOC129999169 (V32L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3137852	NM_001753.5(CAV1):c.418G>A (p.Glu140Lys)	CAV1 (E140K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065492	NM_001753.5(CAV1):c.535T>C (p.Ter179Gln)	CAV1	Single nucleotide variant (stop lost)	Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome	GUncertain significance
Select item 3065015	NM_001753.5(CAV1):c.436del (p.Arg146fs)	CAV1 (R115fs +1 more)	Deletion (frameshift variant)	Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome	GLikely pathogenic
Select item 3034599	NM_001753.4(CAV1):c.-94T>C	CAV1	Single nucleotide variant	CAV1-related disorder	GLikely benign
Select item 3031175	NM_001753.4(CAV1):c.-88delC	CAV1	Deletion	CAV1-related disorder	GUncertain significance
Select item 3024369	GRCh38/hg38 7q31.1-31.2(chr7:113604778-117643891)	LOC113219472, LOC113633876 +131 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 2973399	NM_001753.5(CAV1):c.45C>T (p.Thr15=)	CAV1	Single nucleotide variant (5 prime UTR variant +1 more)	Pulmonary hypertension, primary, 3	GLikely benign
Select item 2916651	NM_001753.5(CAV1):c.30+19del	CAV1	Deletion (5 prime UTR variant +1 more)	Pulmonary hypertension, primary, 3	GBenign
Select item 2914806	NM_001753.5(CAV1):c.229G>A (p.Gly77Arg)	CAV1 (G46R +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 3	GUncertain significance
Select item 2909499	NM_001753.5(CAV1):c.30+13G>A	CAV1	Single nucleotide variant (5 prime UTR variant +1 more)	Pulmonary hypertension, primary, 3	GLikely benign
Select item 2908756	NM_001753.5(CAV1):c.30+19G>A	CAV1	Single nucleotide variant (5 prime UTR variant +1 more)	Pulmonary hypertension, primary, 3	GLikely benign
Select item 2897118	NM_001753.5(CAV1):c.30+13G>T	CAV1	Single nucleotide variant (5 prime UTR variant +1 more)	Pulmonary hypertension, primary, 3	GBenign
Select item 2895477	NM_001753.5(CAV1):c.352T>C (p.Tyr118His)	CAV1 (Y87H +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 3	GUncertain significance
Select item 2894539	NM_001753.5(CAV1):c.358G>A (p.Ala120Thr)	CAV1 (A89T +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 3 +1 more	GUncertain significance
Select item 2872549	NM_001753.5(CAV1):c.57G>A (p.Arg19=)	CAV1	Single nucleotide variant (5 prime UTR variant +1 more)	Pulmonary hypertension, primary, 3	GLikely benign
Select item 2851526	NM_001753.5(CAV1):c.195+8A>G	CAV1, LOC129999169	Single nucleotide variant (intron variant)	Pulmonary hypertension, primary, 3	GLikely benign
Select item 2728888	NM_001753.5(CAV1):c.30+15G>C	CAV1	Single nucleotide variant (5 prime UTR variant +1 more)	Pulmonary hypertension, primary, 3	GLikely benign
Select item 2723156	NM_001753.5(CAV1):c.30+15G>T	CAV1	Single nucleotide variant (5 prime UTR variant +1 more)	Pulmonary hypertension, primary, 3	GLikely benign
Select item 2685262	GRCh37/hg19 7q31.1-31.2(chr7:108967155-116850770)x1	TES, TFEC +20 more	Copy number loss	not provided	GPathogenic
Select item 2663785	NM_001753.5(CAV1):c.284C>T (p.Thr95Met)	CAV1 (T64M +1 more)	Single nucleotide variant (missense variant)	Radioulnar synostosis with amegakaryocytic thrombocytopenia 2	GUncertain significance
Select item 2631155	NM_001753.5(CAV1):c.396dup (p.Cys133fs)	CAV1 (C102fs +1 more)	Duplication (frameshift variant)	CAV1-related disorder	GLikely pathogenic
Select item 2623904	NM_001753.5(CAV1):c.520T>G (p.Leu174Val)	CAV1 (L143V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607887	NM_001753.5(CAV1):c.263G>A (p.Ser88Asn)	CAV1 (S57N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2585858	NM_001753.5(CAV1):c.191T>G (p.Val64Gly)	CAV1, LOC129999169 (V64G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2585857	NM_001753.5(CAV1):c.270C>T (p.Thr90=)	CAV1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2584563	NM_001753.5(CAV1):c.257A>G (p.Lys86Arg)	CAV1 (K55R +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 3 +1 more	GUncertain significance
Select item 2574267	NM_001753.5(CAV1):c.61C>T (p.Gln21Ter)	CAV1 (Q21*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2502255	NM_001753.5(CAV1):c.326T>A (p.Ile109Asn)	CAV1 (I109N +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 3 +1 more	GUncertain significance
Select item 2461444	NM_001753.5(CAV1):c.222A>G (p.Glu74=)	CAV1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2461435	NM_001753.5(CAV1):c.525G>A (p.Gln175=)	CAV1	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 3 +1 more	GLikely benign
Select item 2450708	NM_001753.5(CAV1):c.60A>G (p.Glu20=)	CAV1	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2443747	NM_001753.5(CAV1):c.237_238del (p.His79fs)	CAV1 (H48fs +1 more)	Microsatellite (frameshift variant)	Congenital generalized lipodystrophy type 3	GPathogenic
Select item 2243635	NM_001753.5(CAV1):c.403A>G (p.Lys135Glu)	CAV1 (K104E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240865	NM_001753.5(CAV1):c.179A>G (p.Asn60Ser)	CAV1, LOC129999169 (N60S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2198126	NM_001753.5(CAV1):c.211G>A (p.Val71Met)	CAV1 (V40M +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 3	GUncertain significance
Select item 2048364	NM_001753.5(CAV1):c.31-255del	CAV1, LOC129999168	Deletion (intron variant)	Pulmonary hypertension, primary, 3	GLikely benign
Select item 2034176	NM_001753.5(CAV1):c.219A>G (p.Ala73=)	CAV1	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 3	GLikely benign
Select item 2024231	NM_001753.5(CAV1):c.318C>T (p.Leu106=)	CAV1	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 3	GLikely benign
Select item 1960879	NM_001753.5(CAV1):c.30+13G>C	CAV1	Single nucleotide variant (5 prime UTR variant +1 more)	Pulmonary hypertension, primary, 3	GBenign
Select item 1952545	NM_001753.5(CAV1):c.196-6T>C	CAV1	Single nucleotide variant (intron variant)	Pulmonary hypertension, primary, 3	GLikely benign
Select item 1803889	NM_001753.5(CAV1):c.236A>G (p.His79Arg)	CAV1 (H48R +1 more)	Single nucleotide variant (missense variant)	Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome	GUncertain significance
Select item 1794803	NM_001753.5(CAV1):c.110G>A (p.Ser37Asn)	CAV1 (S6N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1793913	NM_001753.5(CAV1):c.261C>T (p.Ala87=)	CAV1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1793661	NM_001753.5(CAV1):c.25T>G (p.Ser9Ala)	CAV1 (S9A)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1778695	NM_001753.5(CAV1):c.171A>G (p.Lys57=)	CAV1, LOC129999169	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1778694	NM_001753.5(CAV1):c.171A>C (p.Lys57Asn)	CAV1, LOC129999169 (K26N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1775465	NM_001753.5(CAV1):c.156C>A (p.Val52=)	CAV1, LOC129999169	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1750390	NM_001753.5(CAV1):c.58G>A (p.Glu20Lys)	CAV1 (E20K)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1748553	NM_001753.5(CAV1):c.55C>T (p.Arg19Trp)	CAV1 (R19W)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1742881	NM_001753.5(CAV1):c.475C>G (p.Leu159Val)	CAV1 (L128V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1742477	NM_001753.5(CAV1):c.468T>G (p.Cys156Trp)	CAV1 (C125W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1740605	NM_001753.5(CAV1):c.443A>G (p.Tyr148Cys)	CAV1 (Y117C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1740146	NM_001753.5(CAV1):c.437G>A (p.Arg146His)	CAV1 (R146H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1737710	NM_001753.5(CAV1):c.408C>T (p.Ser136=)	CAV1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1735773	NM_001753.5(CAV1):c.387A>C (p.Ala129=)	CAV1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1732568	NM_001753.5(CAV1):c.354C>T (p.Tyr118=)	CAV1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1731253	NM_001753.5(CAV1):c.341T>C (p.Ile114Thr)	CAV1 (I114T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1730066	NM_001753.5(CAV1):c.330G>A (p.Pro110=)	CAV1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1687716	Single allele	FEZF1, GPR37 +38 more	Deletion	Delayed speech and language development	GLikely pathogenic
Select item 1685602	NM_001753.5(CAV1):c.368_369del (p.Ser123fs)	CAV1 (S123fs +1 more)	Microsatellite (frameshift variant)	Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome	GPathogenic
Select item 1677803	NM_001753.5(CAV1):c.394C>G (p.Pro132Ala)	CAV1 (P101A +1 more)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 3 +3 more	GUncertain significance
Select item 1677437	NM_001753.5(CAV1):c.345G>C (p.Trp115Cys)	CAV1 (W115C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1644286	NM_001753.5(CAV1):c.183T>C (p.Asp61=)	CAV1, LOC129999169	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1620886	NM_001753.5(CAV1):c.447C>A (p.Ser149=)	CAV1	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 3	GLikely benign
Select item 1605257	NM_001753.5(CAV1):c.45C>G (p.Thr15=)	CAV1	Single nucleotide variant (5 prime UTR variant +1 more)	Pulmonary hypertension, primary, 3 +3 more	GLikely benign
Select item 1601262	NM_001753.5(CAV1):c.30+20C>T	CAV1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GBenign
Select item 1569990	NM_001753.5(CAV1):c.437G>C (p.Arg146Pro)	CAV1 (R115P +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 3 +2 more	GLikely benign
Select item 1559217	NM_001753.5(CAV1):c.12C>A (p.Gly4=)	CAV1	Single nucleotide variant (5 prime UTR variant +1 more)	Pulmonary hypertension, primary, 3	GLikely benign
Select item 1544732	NM_001753.5(CAV1):c.72C>A (p.Ile24=)	CAV1	Single nucleotide variant (5 prime UTR variant +1 more)	Pulmonary hypertension, primary, 3	GLikely benign
Select item 1527383	GRCh37/hg19 7q22.3-32.1(chr7:106984287-128949489)	PRRT4, PTPRZ1 +92 more	Copy number gain	not specified	GPathogenic
Select item 1527380	GRCh37/hg19 7q22.1-31.31(chr7:100676872-119156160)	ALKBH4, ANKRD7 +95 more	Copy number loss	not specified	GPathogenic
Select item 1493101	NM_001753.5(CAV1):c.446_447insT (p.Ile150fs)	CAV1 (I150fs +1 more)	Insertion (frameshift variant)	Pulmonary hypertension, primary, 3	GLikely pathogenic
Select item 1469176	NM_001753.5(CAV1):c.302G>A (p.Arg101His)	CAV1 (R70H +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 3 +2 more	GUncertain significance
Select item 1354829	NM_001753.5(CAV1):c.189G>A (p.Val63=)	CAV1, LOC129999169	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 3	GUncertain significance
Select item 1340924	GRCh37/hg19 7q31.2(chr7:116084913-116305773)x3	CAV1, CAV2	Copy number gain	not provided	GUncertain significance
Select item 1321559	NM_001753.5(CAV1):c.196-152A>G	CAV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1301625	NM_001753.5(CAV1):c.407G>A (p.Ser136Asn)	CAV1 (S105N +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 3	GUncertain significance
Select item 1296536	NM_001753.5(CAV1):c.31-448_31-443dup	CAV1, LOC129999168	Duplication (intron variant)	not provided	GBenign
Select item 1277614	NM_001753.5(CAV1):c.31-505G>A	CAV1, LOC129999168	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275203	NM_001753.5(CAV1):c.31-179C>T	CAV1, LOC129999168	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265988	NM_001753.5(CAV1):c.*327dup	CAV1	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1254472	NM_001753.5(CAV1):c.195+116CA[8]	CAV1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1232819	NM_001753.5(CAV1):c.30+87C>T	CAV1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1220186	NM_001753.5(CAV1):c.196-306C>A	CAV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1213801	NM_001753.5(CAV1):c.30G>C (p.Glu10Asp)	CAV1 (E10D)	Single nucleotide variant (5 prime UTR variant +1 more)	Pulmonary hypertension, primary, 3	GUncertain significance
Select item 1211194	NM_001753.5(CAV1):c.30+28C>T	CAV1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1209449	NM_001753.5(CAV1):c.31-207_31-204del	CAV1, LOC129999168	Deletion (intron variant)	not provided	GLikely benign
Select item 1208042	NC_000007.14:g.116524604G>T	CAV1	Single nucleotide variant	not provided	GLikely benign
Select item 1185915	NM_001753.5(CAV1):c.*341del	CAV1	Deletion (3 prime UTR variant)	not provided	GLikely benign

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