ClinVar for Gene (Select 347273) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3354368	NM_001018116.2(CAVIN4):c.963del (p.Ala322fs)	CAVIN4 (A322fs)	Deletion (frameshift variant)	CAVIN4-related disorder	GUncertain significance
Select item 3351850	NM_001018116.2(CAVIN4):c.394G>A (p.Val132Met)	CAVIN4 (V132M)	Single nucleotide variant (missense variant)	CAVIN4-related disorder	GUncertain significance
Select item 3347325	NM_001018116.2(CAVIN4):c.1009C>G (p.Pro337Ala)	CAVIN4 (P337A)	Single nucleotide variant (missense variant)	CAVIN4-related disorder	GUncertain significance
Select item 3263594	NM_001018116.2(CAVIN4):c.682C>G (p.Pro228Ala)	CAVIN4 (P228A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263593	NM_001018116.2(CAVIN4):c.815G>A (p.Arg272His)	CAVIN4 (R272H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137924	NM_001018116.2(CAVIN4):c.987T>G (p.His329Gln)	CAVIN4 (H329Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3137923	NM_001018116.2(CAVIN4):c.985C>A (p.His329Asn)	CAVIN4 (H329N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137922	NM_001018116.2(CAVIN4):c.971C>G (p.Pro324Arg)	CAVIN4 (P324R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137921	NM_001018116.2(CAVIN4):c.860A>C (p.Glu287Ala)	CAVIN4 (E287A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137920	NM_001018116.2(CAVIN4):c.85G>A (p.Ala29Thr)	CAVIN4 (A29T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137919	NM_001018116.2(CAVIN4):c.775A>G (p.Ile259Val)	CAVIN4 (I259V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137918	NM_001018116.2(CAVIN4):c.518C>T (p.Ser173Leu)	CAVIN4 (S173L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137917	NM_001018116.2(CAVIN4):c.368A>G (p.Glu123Gly)	CAVIN4 (E123G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137916	NM_001018116.2(CAVIN4):c.290G>A (p.Ser97Asn)	CAVIN4 (S97N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137915	NM_001018116.2(CAVIN4):c.281G>A (p.Arg94Gln)	CAVIN4 (R94Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137914	NM_001018116.2(CAVIN4):c.241A>G (p.Asn81Asp)	CAVIN4 (N81D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137913	NM_001018116.2(CAVIN4):c.218T>C (p.Leu73Ser)	CAVIN4 (L73S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137912	NM_001018116.2(CAVIN4):c.202G>A (p.Val68Ile)	CAVIN4 (V68I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137911	NM_001018116.2(CAVIN4):c.128T>C (p.Ile43Thr)	CAVIN4 (I43T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3063058	GRCh37/hg19 9q31.1-31.2(chr9:102606857-109839724)x1	ABCA1, ALDOB +34 more	Copy number loss	not specified	GPathogenic
Select item 3029997	NM_001018116.2(CAVIN4):c.480T>C (p.Asp160=)	CAVIN4	Single nucleotide variant (synonymous variant)	CAVIN4-related disorder	GLikely benign
Select item 2671591	Single allele	CARD19, MIR24-1 +106 more	Deletion	not provided	GPathogenic
Select item 2597858	NM_001018116.2(CAVIN4):c.856G>A (p.Glu286Lys)	CAVIN4 (E286K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557031	NM_001018116.2(CAVIN4):c.595A>G (p.Lys199Glu)	CAVIN4 (K199E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532066	NM_001018116.2(CAVIN4):c.746G>A (p.Arg249Lys)	CAVIN4 (R249K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2517041	NM_001018116.2(CAVIN4):c.71A>T (p.Asp24Val)	CAVIN4 (D24V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508731	NM_001018116.2(CAVIN4):c.56C>T (p.Ser19Leu)	CAVIN4 (S19L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2505958	NM_001018116.2(CAVIN4):c.913C>T (p.Pro305Ser)	CAVIN4 (P305S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2444731	NM_001018116.2(CAVIN4):c.138T>G (p.Ser46Arg)	CAVIN4 (S46R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430618	NM_001018116.2(CAVIN4):c.409-1delinsCCGAAA	CAVIN4	Indel (splice acceptor variant)	not provided	GUncertain significance
Select item 2136163	NM_001018116.2(CAVIN4):c.686A>G (p.Glu229Gly)	CAVIN4 (E229G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1806780	NM_001018116.2(CAVIN4):c.721CTGAGACAGTCAGGGGAGAGG[3] (p.Arg254_Phe255insLeuArgGlnSerGlyGluArg)	CAVIN4	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ATOSB, ATP6V1G1 +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1527521	GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410)	ABCA1, ABHD17B +261 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1526392	NM_001018116.2(CAVIN4):c.779C>G (p.Ser260Cys)	CAVIN4 (S260C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1341973	GRCh37/hg19 9q22.2-31.1(chr9:93864974-106661581)x1	ALDOB, ALG2 +87 more	Copy number loss	Gorlin syndrome	GPathogenic
Select item 1341248	GRCh37/hg19 9q31.1-31.2(chr9:102858276-110624997)x3	ABCA1, ALDOB +34 more	Copy number gain	not provided	GUncertain significance
Select item 1315033	NM_001018116.2(CAVIN4):c.623A>G (p.Gln208Arg)	CAVIN4 (Q208R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313356	NM_001018116.2(CAVIN4):c.149G>A (p.Ser50Asn)	CAVIN4 (S50N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310913	NM_001018116.2(CAVIN4):c.814C>T (p.Arg272Cys)	CAVIN4 (R272C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1309467	NM_001018116.2(CAVIN4):c.895A>G (p.Arg299Gly)	CAVIN4 (R299G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305225	NM_001018116.2(CAVIN4):c.751_754del (p.Ser251fs)	CAVIN4 (S251fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1303314	NM_001018116.2(CAVIN4):c.683C>T (p.Pro228Leu)	CAVIN4 (P228L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303202	NM_001018116.2(CAVIN4):c.418C>T (p.Arg140Trp)	CAVIN4 (R140W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302650	NM_001018116.2(CAVIN4):c.775A>C (p.Ile259Leu)	CAVIN4 (I259L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1253803	NM_001018116.2(CAVIN4):c.469C>T (p.Gln157Ter)	CAVIN4 (Q157*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1225484	NM_001018116.2(CAVIN4):c.408+245G>A	CAVIN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220411	NM_001018116.2(CAVIN4):c.49C>T (p.Arg17Cys)	CAVIN4 (R17C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1220027	NM_001018116.2(CAVIN4):c.726A>G (p.Arg242=)	CAVIN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1218637	NM_001018116.2(CAVIN4):c.*46T>C	CAVIN4	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1218554	NM_001018116.2(CAVIN4):c.409-202G>A	CAVIN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217793	NM_001018116.2(CAVIN4):c.384C>G (p.Asn128Lys)	CAVIN4 (N128K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1217115	NM_001018116.2(CAVIN4):c.*17T>A	CAVIN4	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1195515	NM_001018116.2(CAVIN4):c.684G>A (p.Pro228=)	CAVIN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1191217	NM_001018116.2(CAVIN4):c.714_734del (p.234LRQSGER[2])	CAVIN4	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 1186700	NM_001018116.2(CAVIN4):c.980C>A (p.Pro327His)	CAVIN4 (P327H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1179946	NM_001018116.2(CAVIN4):c.59G>C (p.Ser20Thr)	CAVIN4 (S20T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 997816	Single allele	PRXL2C, TBC1D2 +55 more	Deletion	Intellectual disability	GPathogenic
Select item 930062	NM_001018116.2(CAVIN4):c.168G>C (p.Glu56Asp)	CAVIN4 (E56D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 929316	GRCh37/hg19 9q22.31-31.2(chr9:96126075-108535272)x1	TSTD2, XPA +84 more	Copy number loss	See cases	GPathogenic
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 682199	NM_001018116.2(CAVIN4):c.390C>T (p.Phe130=)	CAVIN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 680894	NM_001018116.2(CAVIN4):c.408+9G>A	CAVIN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 680133	NM_001018116.2(CAVIN4):c.408+28T>C	CAVIN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678522	NM_001018116.2(CAVIN4):c.408+248A>G	CAVIN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676361	NM_001018116.2(CAVIN4):c.409-26T>A	CAVIN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 674703	NM_001018116.2(CAVIN4):c.408+181G>A	CAVIN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674702	NM_001018116.2(CAVIN4):c.408+42T>C	CAVIN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674700	NM_001018116.2(CAVIN4):c.-57G>A	CAVIN4	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 674699	NM_001018116.2(CAVIN4):c.-117T>C	CAVIN4	Single nucleotide variant	not provided	GBenign
Select item 546417	NM_001018116.2(CAVIN4):c.11A>G (p.Asn4Ser)	CAVIN4 (N4S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ANGPTL2, ANKS6 +555 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 517166	NM_001018116.2(CAVIN4):c.632G>A (p.Arg211Gln)	CAVIN4 (R211Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 516885	NM_001018116.2(CAVIN4):c.971C>T (p.Pro324Leu)	CAVIN4 (P324L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 515285	NM_001018116.2(CAVIN4):c.519G>A (p.Ser173=)	CAVIN4	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 514323	NM_001018116.2(CAVIN4):c.714A>C (p.Gly238=)	CAVIN4	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 513382	NM_001018116.2(CAVIN4):c.858G>A (p.Glu286=)	CAVIN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 511567	NM_001018116.2(CAVIN4):c.177G>A (p.Arg59=)	CAVIN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 511498	NM_001018116.2(CAVIN4):c.721CTGAGACAGTCAGGGGAGAGG[1] (p.234LRQSGER[2])	CAVIN4	Microsatellite (inframe_deletion)	Primary dilated cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 506360	NM_001018116.2(CAVIN4):c.615A>G (p.Glu205=)	CAVIN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 505007	NM_001018116.2(CAVIN4):c.84C>T (p.Asp28=)	CAVIN4	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 504775	NM_001018116.2(CAVIN4):c.692G>A (p.Arg231Lys)	CAVIN4 (R231K)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 452629	NM_001018116.2(CAVIN4):c.296A>G (p.His99Arg)	CAVIN4 (H99R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 451868	NM_001018116.2(CAVIN4):c.161T>C (p.Ile54Thr)	CAVIN4 (I54T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 450258	NM_001018116.2(CAVIN4):c.425C>T (p.Pro142Leu)	CAVIN4 (P142L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 450140	NM_001018116.2(CAVIN4):c.394G>C (p.Val132Leu)	CAVIN4 (V132L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 429269	NM_001018116.2(CAVIN4):c.464A>G (p.Glu155Gly)	CAVIN4 (E155G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 394229	GRCh37/hg19 9q31.1-31.3(chr9:103271401-113948226)x1	ABCA1, ABITRAM +48 more	Copy number loss	See cases	GPathogenic
Select item 393023	NM_001018116.2(CAVIN4):c.344A>G (p.Lys115Arg)	CAVIN4 (K115R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 392856	NM_001018116.2(CAVIN4):c.161T>G (p.Ile54Arg)	CAVIN4 (I54R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 392855	NM_001018116.2(CAVIN4):c.28G>A (p.Ala10Thr)	CAVIN4 (A10T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 392831	NM_001018116.2(CAVIN4):c.598A>G (p.Lys200Glu)	CAVIN4 (K200E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 390964	NM_001018116.2(CAVIN4):c.408+6C>A	CAVIN4	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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