ClinVar for Gene (Select 857) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3594262	NM_001753.5(CAV1):c.511C>T (p.Arg171Cys)	CAV1 (R140C +1 more)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 3 +2 more	GUncertain significance
Select item 3594261	NM_001753.5(CAV1):c.487G>C (p.Val163Leu)	CAV1 (V132L +1 more)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 3 +2 more	GUncertain significance
Select item 3594260	NM_001753.5(CAV1):c.461C>T (p.Thr154Ile)	CAV1 (T123I +1 more)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 3 +2 more	GUncertain significance
Select item 3594259	NM_001753.5(CAV1):c.460A>T (p.Thr154Ser)	CAV1 (T154S +1 more)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 3 +2 more	GUncertain significance
Select item 3594258	NM_001753.5(CAV1):c.454G>A (p.Val152Ile)	CAV1 (V152I +1 more)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 3 +2 more	GUncertain significance
Select item 3594257	NM_001753.5(CAV1):c.436C>T (p.Arg146Cys)	CAV1 (R146C +1 more)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 3 +2 more	GUncertain significance
Select item 3594256	NM_001753.5(CAV1):c.413T>C (p.Leu138Pro)	CAV1 (L138P +1 more)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 3 +2 more	GUncertain significance
Select item 3594255	NM_001753.5(CAV1):c.323G>A (p.Gly108Asp)	CAV1 (G77D +1 more)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 3 +2 more	GUncertain significance
Select item 3594253	NM_001753.5(CAV1):c.301C>T (p.Arg101Cys)	CAV1 (R70C +1 more)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 3 +2 more	GUncertain significance
Select item 3594252	NM_001753.5(CAV1):c.247G>A (p.Gly83Ser)	CAV1 (G52S +1 more)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 3 +2 more	GUncertain significance
Select item 3594251	NM_001753.5(CAV1):c.194A>G (p.Lys65Arg)	CAV1, LOC129999169 (K65R +1 more)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 3 +2 more	GUncertain significance
Select item 3594250	NM_001753.5(CAV1):c.96G>A (p.Met32Ile)	CAV1 (M32I +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital generalized lipodystrophy type 3 +2 more	GUncertain significance
Select item 3594249	NM_001753.5(CAV1):c.87C>A (p.Asn29Lys)	CAV1 (N29K)	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital generalized lipodystrophy type 3 +2 more	GUncertain significance
Select item 3594248	NM_001753.5(CAV1):c.31-5T>A	CAV1	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital generalized lipodystrophy type 3 +2 more	GUncertain significance
Select item 3594247	NM_001753.5(CAV1):c.30+3A>G	CAV1	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital generalized lipodystrophy type 3 +2 more	GUncertain significance
Select item 3485517	NM_001753.5(CAV1):c.521T>C (p.Leu174Ser)	CAV1 (L143S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3485516	NM_001753.5(CAV1):c.520T>A (p.Leu174Met)	CAV1 (L143M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3485515	NM_001753.5(CAV1):c.508G>A (p.Val170Ile)	CAV1 (V139I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3485514	NM_001753.5(CAV1):c.243T>C (p.Phe81=)	CAV1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3485513	NM_001753.5(CAV1):c.102C>G (p.Asp34Glu)	CAV1 (D34E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3485511	NM_001753.5(CAV1):c.93C>T (p.Ala31=)	CAV1	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3485510	NM_001753.5(CAV1):c.474A>G (p.Pro158=)	CAV1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3485509	NM_001753.5(CAV1):c.477C>G (p.Leu159=)	CAV1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3485508	NM_001753.5(CAV1):c.252T>C (p.Ile84=)	CAV1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3485507	NM_001753.5(CAV1):c.492G>C (p.Gly164=)	CAV1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3485506	NM_001753.5(CAV1):c.483A>G (p.Glu161=)	CAV1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3485505	NM_001753.5(CAV1):c.303C>T (p.Arg101=)	CAV1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3485504	NM_001753.5(CAV1):c.288A>G (p.Lys96=)	CAV1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3485503	NM_001753.5(CAV1):c.106C>A (p.Leu36Met)	CAV1 (L36M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3485502	NM_001753.5(CAV1):c.235C>A (p.His79Asn)	CAV1 (H48N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3485500	NM_001753.5(CAV1):c.459C>T (p.His153=)	CAV1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3485499	NM_001753.5(CAV1):c.132G>A (p.Ala44=)	CAV1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3485498	NM_001753.5(CAV1):c.209A>G (p.Asp70Gly)	CAV1 (D39G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3485497	NM_001753.5(CAV1):c.147C>A (p.Ile49=)	CAV1, LOC129999169	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
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 +3 more	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	CAV1, CFTR +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)	ASZ1, CAPZA2 +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)	Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome +2 more	GConflicting classifications of pathogenicity
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)	Congenital generalized lipodystrophy type 3 +3 more	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)	not provided +2 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 +1 more	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 +2 more	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

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