CAV1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1208042	NC_000007.14:g.116524604G>T	CAV1	Single nucleotide variant	not provided	GLikely benign
Select item 1181186	NC_000007.14:g.116524838G>A	CAV1	Single nucleotide variant	not provided	GLikely benign
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 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 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 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)	not provided +2 more	GConflicting classifications of pathogenicity
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 212818	NM_001753.5(CAV1):c.30+19dup	CAV1	Duplication (5 prime UTR variant +1 more)	not provided +2 more	GBenign
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 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 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 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 379541	NM_001753.5(CAV1):c.30+14G>T	CAV1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GBenign
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 995628	NM_001753.5(CAV1):c.30+16G>A	CAV1	Single nucleotide variant (5 prime UTR variant +1 more)	Pulmonary hypertension, primary, 3 +1 more	GBenign/Likely 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 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 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 1232819	NM_001753.5(CAV1):c.30+87C>T	CAV1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 672478	NM_001753.5(CAV1):c.30+214A>C	CAV1	Single nucleotide variant (5 prime UTR variant +1 more)	Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome +3 more	GBenign
Select item 673350	NM_001753.5(CAV1):c.30+317T>C	CAV1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 393407	NM_001753.5(CAV1):c.43A>G (p.Thr15Ala)	CAV1 (T15A)	Single nucleotide variant (5 prime UTR variant +1 more)	Monogenic diabetes	GUncertain significance
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 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 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 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 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 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 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 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 8467	NM_001753.5(CAV1):c.112G>T (p.Glu38Ter)	CAV1 (E38* +1 more)	Single nucleotide variant (nonsense)	Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome	GPathogenic
Select item 696786	NM_001753.5(CAV1):c.129C>T (p.Asp43=)	CAV1	Single nucleotide variant (synonymous variant)	Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome +4 more	GBenign/Likely benign
Select item 1254472	NM_001753.5(CAV1):c.195+116CA[8]	CAV1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1220186	NM_001753.5(CAV1):c.196-306C>A	CAV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675285	NM_001753.5(CAV1):c.196-172A>G	CAV1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1321559	NM_001753.5(CAV1):c.196-152A>G	CAV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 944210	NM_001753.5(CAV1):c.202T>G (p.Phe68Val)	CAV1 (F68V +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 3 +3 more	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 2034176	NM_001753.5(CAV1):c.219A>G (p.Ala73=)	CAV1	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 3	GLikely benign
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 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 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 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 548689	NM_001753.5(CAV1):c.238A>G (p.Ser80Gly)	CAV1 (S49G +1 more)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension associated with congenital heart disease	GUncertain significance
Select item 439457	NM_001753.5(CAV1):c.246C>T (p.Asp82=)	CAV1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely 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 699189	NM_001753.5(CAV1):c.258G>A (p.Lys86=)	CAV1	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 3	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 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 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 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 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 2024231	NM_001753.5(CAV1):c.318C>T (p.Leu106=)	CAV1	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 3	GLikely benign
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 1050597	NM_001753.5(CAV1):c.329C>T (p.Pro110Leu)	CAV1 (P110L +1 more)	Single nucleotide variant (missense variant)	not provided	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 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 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 699061	NM_001753.5(CAV1):c.348C>T (p.Gly116=)	CAV1	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 3 +1 more	GBenign/Likely benign
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 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)	Congenital generalized lipodystrophy type 3 +3 more	GLikely benign
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 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 1735773	NM_001753.5(CAV1):c.387A>C (p.Ala129=)	CAV1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
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 2631155	NM_001753.5(CAV1):c.396dup (p.Cys133fs)	CAV1 (C102fs +1 more)	Duplication (frameshift variant)	CAV1-related disorder	GLikely pathogenic
Select item 204324	NM_001753.5(CAV1):c.400del (p.Ile134fs)	CAV1 (I103fs +1 more)	Deletion (frameshift variant)	Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome	GPathogenic
Select item 128609	NM_001753.5(CAV1):c.401_402delinsA (p.Ile134fs)	CAV1 (I134fs +1 more)	Indel (frameshift variant)	Pulmonary hypertension, primary, 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 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 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 209106	NM_001753.5(CAV1):c.424C>T (p.Gln142Ter)	CAV1 (Q142* +1 more)	Single nucleotide variant (nonsense)	Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome +1 more	GPathogenic
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 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 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 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 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 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 1620886	NM_001753.5(CAV1):c.447C>A (p.Ser149=)	CAV1	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 3	GLikely benign
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)	not provided +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)	not provided +2 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 56968	NM_001753.5(CAV1):c.473del (p.Pro158fs)	CAV1 (P158fs +1 more)	Deletion (frameshift variant)	Pulmonary hypertension, primary, 3	GPathogenic
Select item 56967	NM_001753.5(CAV1):c.474del (p.Leu159fs)	CAV1 (L128fs +1 more)	Deletion (frameshift variant)	Pulmonary hypertension, primary, 3	GPathogenic
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 541324	NM_001753.5(CAV1):c.500T>C (p.Phe167Ser)	CAV1 (F167S +1 more)	Single nucleotide variant (missense variant)	Monogenic diabetes +2 more	GConflicting classifications of pathogenicity
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 650998	NM_001753.5(CAV1):c.512G>A (p.Arg171His)	CAV1 (R140H +1 more)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 3 +2 more	GUncertain significance

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