"Ambry Genetics"[submitter] AND "CAV1"[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 800276	NM_001753.5(CAV1):c.28G>T (p.Glu10Ter)	CAV1 (E10*)	Single nucleotide variant (5 prime UTR variant +1 more)	Pulmonary hypertension, primary, 3 +2 more	GConflicting classifications of pathogenicity
Select item 1605257	NM_001753.5(CAV1):c.45C>G (p.Thr15=)	CAV1	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +3 more	GLikely benign
Select item 618550	NM_001753.5(CAV1):c.54C>G (p.Ile18Met)	CAV1 (I18M)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 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 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 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 696786	NM_001753.5(CAV1):c.129C>T (p.Asp43=)	CAV1	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 3 +3 more	GBenign/Likely benign
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 128610	NM_001753.5(CAV1):c.156C>T (p.Val52=)	CAV1, LOC129999169	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
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 705413	NM_001753.5(CAV1):c.174C>T (p.His58=)	CAV1, LOC129999169	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
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 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 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 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 474315	NM_001753.5(CAV1):c.192C>T (p.Val64=)	CAV1, LOC129999169	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 944210	NM_001753.5(CAV1):c.202T>G (p.Phe68Val)	CAV1 (F68V +1 more)	Single nucleotide variant (missense variant)	Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome +3 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 439457	NM_001753.5(CAV1):c.246C>T (p.Asp82=)	CAV1	Single nucleotide variant (synonymous variant)	Congenital generalized lipodystrophy type 3 +4 more	GBenign/Likely 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 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 2585857	NM_001753.5(CAV1):c.270C>T (p.Thr90=)	CAV1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 715166	NM_001753.5(CAV1):c.285G>A (p.Thr95=)	CAV1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1730066	NM_001753.5(CAV1):c.330G>A (p.Pro110=)	CAV1	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 3 +1 more	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 699061	NM_001753.5(CAV1):c.348C>T (p.Gly116=)	CAV1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely 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 701521	NM_001753.5(CAV1):c.357C>T (p.Phe119=)	CAV1	Single nucleotide variant (synonymous variant)	Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome +3 more	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 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 1737710	NM_001753.5(CAV1):c.408C>T (p.Ser136=)	CAV1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
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 1143569	NM_001753.5(CAV1):c.426G>A (p.Gln142=)	CAV1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
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 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 566670	NM_001753.5(CAV1):c.448A>G (p.Ile150Val)	CAV1 (I150V +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 3 +1 more	GConflicting classifications of pathogenicity
Select item 696856	NM_001753.5(CAV1):c.453C>T (p.Tyr151=)	CAV1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 695522	NM_001753.5(CAV1):c.463G>A (p.Val155Ile)	CAV1 (V155I +1 more)	Single nucleotide variant (missense variant)	CAV1-related condition +3 more	GLikely benign
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 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 208669	NM_001753.5(CAV1):c.479_480del (p.Leu159_Phe160insTer)	CAV1	Deletion (nonsense)	Inborn genetic diseases	GPathogenic
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 696214	NM_001753.5(CAV1):c.507T>C (p.Asn169=)	CAV1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
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 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 2461435	NM_001753.5(CAV1):c.525G>A (p.Gln175=)	CAV1	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 3 +1 more	GLikely benign

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Items: 50