ClinVar for Gene (Select 8557) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3356495	NM_003673.4(TCAP):c.504A>G (p.Ter168Trp)	TCAP	Single nucleotide variant (stop lost)	TCAP-related disorder	GUncertain significance
Select item 3324908	NM_003673.4(TCAP):c.375C>T (p.Gly125=)	TCAP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3252652	NM_003673.4(TCAP):c.359A>G (p.Glu120Gly)	TCAP (E120G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3223542	NM_003673.4(TCAP):c.466C>T (p.Leu156=)	TCAP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3223541	NM_003673.4(TCAP):c.407T>G (p.Ile136Ser)	TCAP (I136S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3223540	NM_003673.4(TCAP):c.368T>G (p.Leu123Arg)	TCAP (L123R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3223539	NM_003673.4(TCAP):c.25G>T (p.Glu9Ter)	TCAP (E9*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype	GPathogenic
Select item 3223538	NM_003673.4(TCAP):c.254A>G (p.Tyr85Cys)	TCAP (Y85C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3175036	NM_003673.4(TCAP):c.43T>A (p.Cys15Ser)	TCAP (C15S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3175035	NM_003673.4(TCAP):c.295A>G (p.Met99Val)	TCAP (M99V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 2952074	NM_003673.4(TCAP):c.265C>A (p.Leu89Met)	TCAP (L89M)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2948047	NM_003673.4(TCAP):c.50_51dup (p.Arg18fs)	TCAP (R18fs)	Microsatellite (frameshift variant)	Primary familial hypertrophic cardiomyopathy +1 more	GPathogenic
Select item 2946520	NM_003673.4(TCAP):c.211A>G (p.Met71Val)	TCAP (M71V)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 2942299	NM_003673.4(TCAP):c.165G>C (p.Gly55=)	TCAP	Single nucleotide variant (synonymous variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 2941072	NM_003673.4(TCAP):c.34G>C (p.Glu12Gln)	TCAP (E12Q)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2940721	NM_003673.4(TCAP):c.93C>A (p.Ser31=)	TCAP	Single nucleotide variant (synonymous variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 2937928	NM_003673.4(TCAP):c.291C>G (p.Ala97=)	TCAP	Single nucleotide variant (synonymous variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 2937740	NM_003673.4(TCAP):c.212T>C (p.Met71Thr)	TCAP (M71T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 2937322	NM_003673.4(TCAP):c.78G>A (p.Lys26=)	TCAP	Single nucleotide variant (synonymous variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 2933300	NM_003673.4(TCAP):c.122A>G (p.His41Arg)	TCAP (H41R)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2932566	NM_003673.4(TCAP):c.14A>G (p.Glu5Gly)	TCAP (E5G)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2931247	NM_003673.4(TCAP):c.222C>T (p.Leu74=)	TCAP	Single nucleotide variant (synonymous variant)	Primary familial hypertrophic cardiomyopathy +2 more	GLikely benign
Select item 2930460	NM_003673.4(TCAP):c.111-15C>G	TCAP	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 2930435	NM_003673.4(TCAP):c.332dup (p.Gln112fs)	TCAP (Q112fs)	Duplication (frameshift variant)	Primary familial hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 2930380	NM_003673.4(TCAP):c.380G>A (p.Cys127Tyr)	TCAP (C127Y)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2929857	NM_003673.4(TCAP):c.435T>G (p.Pro145=)	TCAP	Single nucleotide variant (synonymous variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 2929621	NM_003673.4(TCAP):c.402del (p.Glu135fs)	TCAP (E135fs)	Deletion (frameshift variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2928100	NM_003673.4(TCAP):c.110+5G>C	TCAP	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2927814	NM_003673.4(TCAP):c.62_64del (p.Phe21del)	TCAP (F21del)	Deletion (inframe_deletion)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2927567	NM_003673.4(TCAP):c.110+8T>G	TCAP	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 2925613	NM_003673.4(TCAP):c.397G>A (p.Val133Met)	TCAP (V133M)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2924468	NM_003673.4(TCAP):c.199C>T (p.Leu67=)	TCAP	Single nucleotide variant (synonymous variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 2923530	NM_003673.4(TCAP):c.198G>C (p.Trp66Cys)	TCAP (W66C)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2647721	NM_003673.4(TCAP):c.410C>A (p.Thr137Lys)	TCAP (T137K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2647720	NM_003673.4(TCAP):c.410_411del (p.Thr137fs)	TCAP (T137fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 2625122	NM_003673.4(TCAP):c.493_494del (p.Gln165fs)	TCAP (Q165fs)	Microsatellite (frameshift variant)	Cardiovascular phenotype	GUncertain significance
Select item 2625121	NM_003673.4(TCAP):c.107A>G (p.Glu36Gly)	TCAP (E36G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2625120	NM_003673.4(TCAP):c.19A>G (p.Ser7Gly)	TCAP (S7G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2584601	NM_003673.4(TCAP):c.394G>C (p.Glu132Gln)	TCAP (E132Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 2581215	NM_003673.4(TCAP):c.111-11C>T	TCAP	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2573509	NM_003673.4(TCAP):c.184C>T (p.Gln62Ter)	TCAP (Q62*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 2562756	NM_003673.4(TCAP):c.172C>G (p.Gln58Glu)	TCAP (Q58E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2562755	NM_003673.4(TCAP):c.110_110+1dup	TCAP	Duplication (splice donor variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 2562754	NM_003673.4(TCAP):c.51C>T (p.Arg17=)	TCAP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2562752	NM_003673.4(TCAP):c.466_477del (p.Leu156_Ser159del)	TCAP	Deletion (inframe_deletion +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2447687	NM_003673.4(TCAP):c.305C>T (p.Thr102Ile)	TCAP (T102I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2447686	NM_003673.4(TCAP):c.237G>A (p.Gln79=)	TCAP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2447685	NM_003673.4(TCAP):c.195C>T (p.Pro65=)	TCAP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2436993	NM_003673.4(TCAP):c.217A>G (p.Ile73Val)	TCAP (I73V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436992	NM_003673.4(TCAP):c.326C>A (p.Thr109Asn)	TCAP (T109N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2424720	NC_000017.10:g.(?_37821613)_(38458253_?)dup	CASC3, CDC6 +20 more	Duplication	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 2392492	NM_003673.4(TCAP):c.452C>T (p.Ala151Val)	TCAP (A151V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2314758	NM_003673.4(TCAP):c.449G>A (p.Gly150Asp)	TCAP (G150D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2202667	NM_003673.4(TCAP):c.50G>A (p.Arg17His)	TCAP (R17H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 25 +2 more	GUncertain significance
Select item 2199081	NM_003673.4(TCAP):c.105G>A (p.Glu35=)	TCAP	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 2196297	NM_003673.4(TCAP):c.134C>T (p.Thr45Ile)	TCAP (T45I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 2187022	NM_003673.4(TCAP):c.111-15C>T	TCAP	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 25 +1 more	GLikely benign
Select item 2178390	NM_003673.4(TCAP):c.178C>G (p.Leu60Val)	TCAP (L60V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 2177587	NM_003673.4(TCAP):c.464C>G (p.Ser155Cys)	TCAP (S155C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 2157665	NM_003673.4(TCAP):c.325A>G (p.Thr109Ala)	TCAP (T109A)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 2156216	NM_003673.4(TCAP):c.111-14T>A	TCAP	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 25 +1 more	GLikely benign
Select item 2146004	NM_003673.4(TCAP):c.34_48dup (p.Glu16_Arg17insGluGluAsnCysGlu)	TCAP	Duplication (inframe_insertion)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2135332	NM_003673.4(TCAP):c.448G>C (p.Gly150Arg)	TCAP (G150R)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2113282	NM_003673.4(TCAP):c.428T>G (p.Val143Gly)	TCAP (V143G)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2098148	NM_003673.4(TCAP):c.218T>C (p.Ile73Thr)	TCAP (I73T)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2090126	NM_003673.4(TCAP):c.151_154del (p.Tyr51fs)	TCAP (Y51fs)	Deletion (frameshift variant)	Primary familial hypertrophic cardiomyopathy +1 more	GPathogenic
Select item 2065429	NM_003673.4(TCAP):c.45_46del (p.Cys15_Glu16delinsTer)	TCAP	Microsatellite (nonsense)	Primary familial hypertrophic cardiomyopathy +1 more	GPathogenic
Select item 2040154	NM_003673.4(TCAP):c.408_410delinsA (p.Thr137fs)	TCAP (T137fs)	Indel (frameshift variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2036224	NM_003673.4(TCAP):c.111C>G (p.Gly37=)	TCAP	Single nucleotide variant (synonymous variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2033561	NM_003673.4(TCAP):c.425del (p.Pro142fs)	TCAP (P142fs)	Deletion (frameshift variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2023376	NM_003673.4(TCAP):c.110+2T>C	TCAP	Single nucleotide variant (splice donor variant)	Primary familial hypertrophic cardiomyopathy +1 more	GPathogenic
Select item 2011788	NM_003673.4(TCAP):c.130G>A (p.Asp44Asn)	TCAP (D44N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 2011759	NM_003673.4(TCAP):c.110+6T>G	TCAP	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 1997878	NM_003673.4(TCAP):c.110+15G>T	TCAP	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 25 +1 more	GLikely benign
Select item 1959038	NM_003673.4(TCAP):c.110+13C>A	TCAP	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 1932063	NM_003673.4(TCAP):c.277A>G (p.Ile93Val)	TCAP (I93V)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 1810044	NM_003673.4(TCAP):c.457C>T (p.Arg153Cys)	TCAP (R153C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1795156	NM_003673.4(TCAP):c.271C>A (p.Leu91Met)	TCAP (L91M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1794180	NM_003673.4(TCAP):c.263T>A (p.Val88Glu)	TCAP (V88E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1788573	NM_003673.4(TCAP):c.225C>A (p.Gly75=)	TCAP	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 25 +2 more	GLikely benign
Select item 1788263	NM_003673.4(TCAP):c.223G>T (p.Gly75Cys)	TCAP (G75C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1787054	NM_003673.4(TCAP):c.216C>T (p.Gly72=)	TCAP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1782047	NM_003673.4(TCAP):c.188G>A (p.Arg63His)	TCAP (R63H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1767156	NM_003673.4(TCAP):c.94A>T (p.Thr32Ser)	TCAP (T32S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1762818	NM_003673.4(TCAP):c.82C>T (p.Leu28=)	TCAP	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 25 +2 more	GLikely benign
Select item 1742520	NM_003673.4(TCAP):c.469T>A (p.Ser157Thr)	TCAP (S157T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 25 +2 more	GUncertain significance
Select item 1736597	NM_003673.4(TCAP):c.396G>A (p.Glu132=)	TCAP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1735340	NM_003673.4(TCAP):c.382G>C (p.Val128Leu)	TCAP (V128L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1732581	NM_003673.4(TCAP):c.354G>C (p.Ala118=)	TCAP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1731043	NM_003673.4(TCAP):c.33G>C (p.Ser11=)	TCAP	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 25 +2 more	GLikely benign
Select item 1722201	NM_003673.4(TCAP):c.479T>C (p.Met160Thr)	TCAP (M160T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 1719294	NM_003673.4(TCAP):c.500G>C (p.Gly167Ala)	TCAP (G167A)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 1708038	NM_003673.4(TCAP):c.360_361del (p.Glu120fs)	TCAP (E120fs)	Microsatellite (frameshift variant)	Hypertrophic cardiomyopathy 25	GLikely pathogenic
Select item 1693697	NM_003673.4(TCAP):c.394G>A (p.Glu132Lys)	TCAP (E132K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1687576	NM_003673.4(TCAP):c.110+1G>A	TCAP	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2G	GLikely pathogenic
Select item 1661075	NM_003673.4(TCAP):c.111-16C>T	TCAP	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 1628087	NM_003673.4(TCAP):c.426T>G (p.Pro142=)	TCAP	Single nucleotide variant (synonymous variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 1621572	NM_003673.4(TCAP):c.381T>C (p.Cys127=)	TCAP	Single nucleotide variant (synonymous variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 1616012	NM_003673.4(TCAP):c.420G>T (p.Leu140=)	TCAP	Single nucleotide variant (synonymous variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign

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