1527[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 148448	GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1	ALKBH4, ANKRD7 +474 more	Copy number loss	See cases	GPathogenic
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 60286	GRCh38/hg38 7q31.1-31.33(chr7:113799835-124899218)x1	AASS, ANKRD7 +248 more	Copy number loss	See cases	GPathogenic
Select item 145985	GRCh38/hg38 7q31.1-31.33(chr7:114142477-125840381)x1	AASS, ANKRD7 +253 more	Copy number loss	See cases	GPathogenic
Select item 155346	GRCh38/hg38 7q31.1-31.2(chr7:114389395-117253741)x1	CAPZA2, CAV1 +98 more	Copy number loss	See cases	GPathogenic
Select item 154392	GRCh38/hg38 7q31.1-31.31(chr7:114898882-117790123)x1	ASZ1, CAPZA2 +131 more	Copy number loss	See cases	GPathogenic
Select item 59715	GRCh38/hg38 7q31.2(chr7:115042242-116687714)x3	CAV1, CAV2 +48 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
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)	not provided +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 1277614	NM_001753.5(CAV1):c.31-505G>A	CAV1, LOC129999168	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296536	NM_001753.5(CAV1):c.31-448_31-443dup	CAV1, LOC129999168	Duplication (intron variant)	not provided	GBenign
Select item 2048364	NM_001753.5(CAV1):c.31-255del	CAV1, LOC129999168	Deletion (intron variant)	Pulmonary hypertension, primary, 3	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 1275203	NM_001753.5(CAV1):c.31-179C>T	CAV1, LOC129999168	Single nucleotide variant (intron variant)	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 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=)	LOC129999169, CAV1	Single nucleotide variant (synonymous variant)	not specified +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 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 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 762146	NM_001753.5(CAV1):c.177C>G (p.Leu59=)	CAV1, LOC129999169	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 3	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 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 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)	Pulmonary hypertension, primary, 3 +1 more	GLikely benign
Select item 759286	NM_001753.5(CAV1):c.195+7C>T	CAV1, LOC129999169	Single nucleotide variant (intron variant)	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 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)	Pulmonary hypertension, primary, 3 +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

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