"Ambry Genetics"[submitter] AND "TCAP"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 464946	NM_003673.4(TCAP):c.24C>T (p.Cys8=)	TCAP	Single nucleotide variant (synonymous variant)	Primary familial hypertrophic cardiomyopathy +2 more	GLikely benign
Select item 3223539	NM_003673.4(TCAP):c.25G>T (p.Glu9Ter)	TCAP (E9*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype	GPathogenic
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 177939	NM_003673.4(TCAP):c.32C>T (p.Ser11Leu)	TCAP (S11L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 25 +6 more	GConflicting classifications of pathogenicity
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 386567	NM_003673.4(TCAP):c.33G>A (p.Ser11=)	TCAP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 44707	NM_003673.4(TCAP):c.34GAG[1] (p.Glu13del)	TCAP (E13del)	Microsatellite (inframe_deletion)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
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 222830	NM_003673.4(TCAP):c.49C>T (p.Arg17Cys)	TCAP (R17C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	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 862031	NM_003673.4(TCAP):c.50G>C (p.Arg17Pro)	TCAP (R17P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 25 +3 more	GUncertain significance
Select item 533540	NM_003673.4(TCAP):c.50_51delinsCT (p.Arg17Pro)	TCAP (R17P)	Indel (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 2562754	NM_003673.4(TCAP):c.51C>T (p.Arg17=)	TCAP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 263956	NM_003673.4(TCAP):c.52C>T (p.Arg18Trp)	TCAP (R18W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 995305	NM_003673.4(TCAP):c.54G>C (p.Arg18=)	TCAP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 44714	NM_003673.4(TCAP):c.60C>G (p.Ala20=)	TCAP	Single nucleotide variant (synonymous variant)	Primary familial hypertrophic cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 290645	NM_003673.4(TCAP):c.66G>A (p.Trp22Ter)	TCAP (W22*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +4 more	GPathogenic/Likely pathogenic
Select item 838126	NM_003673.4(TCAP):c.70G>C (p.Glu24Gln)	TCAP (E24Q)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +2 more	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 1597314	NM_003673.4(TCAP):c.87A>C (p.Thr29=)	TCAP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1142258	NM_003673.4(TCAP):c.87A>G (p.Thr29=)	TCAP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
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 282451	NM_003673.4(TCAP):c.97C>T (p.Arg33Trp)	TCAP (R33W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +5 more	GConflicting classifications of pathogenicity
Select item 426834	NM_003673.4(TCAP):c.98G>A (p.Arg33Gln)	TCAP (R33Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 25 +4 more	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 2562755	NM_003673.4(TCAP):c.110_110+1dup	TCAP	Duplication (splice donor variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 758390	NM_003673.4(TCAP):c.108G>A (p.Glu36=)	TCAP	Single nucleotide variant (synonymous variant)	Primary familial hypertrophic cardiomyopathy +2 more	GLikely benign
Select item 5526	NM_003673.4(TCAP):c.110_110+1del	TCAP	Deletion (splice donor variant)	Hypertrophic cardiomyopathy 25 +3 more	GPathogenic
Select item 202108	NM_003673.4(TCAP):c.113G>T (p.Cys38Phe)	TCAP (C38F)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 652487	NM_003673.4(TCAP):c.126GGA[1] (p.Glu43del)	TCAP (E43del)	Microsatellite (inframe_deletion)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 44703	NM_003673.4(TCAP):c.132C>T (p.Asp44=)	TCAP	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 284026	NM_003673.4(TCAP):c.169T>C (p.Cys57Arg)	TCAP (C57R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 568778	NM_003673.4(TCAP):c.171C>G (p.Cys57Trp)	TCAP (C57W)	Single nucleotide variant (missense variant)	not provided +3 more	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 1178007	NM_003673.4(TCAP):c.186G>A (p.Gln62=)	TCAP	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 464945	NM_003673.4(TCAP):c.187C>T (p.Arg63Cys)	TCAP (R63C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
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 44705	NM_003673.4(TCAP):c.191C>T (p.Ser64Leu)	TCAP (S64L)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +6 more	GBenign
Select item 757231	NM_003673.4(TCAP):c.192G>T (p.Ser64=)	TCAP	Single nucleotide variant (synonymous variant)	Primary familial hypertrophic cardiomyopathy +2 more	GLikely benign
Select item 239546	NM_003673.4(TCAP):c.192G>A (p.Ser64=)	TCAP	Single nucleotide variant (synonymous variant)	Primary familial hypertrophic cardiomyopathy +3 more	GLikely benign
Select item 1023093	NM_003673.4(TCAP):c.194C>T (p.Pro65Leu)	TCAP (P65L)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +3 more	GUncertain significance
Select item 2447685	NM_003673.4(TCAP):c.195C>T (p.Pro65=)	TCAP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 387609	NM_003673.4(TCAP):c.195C>G (p.Pro65=)	TCAP	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 25 +3 more	GLikely benign
Select item 520315	NM_003673.4(TCAP):c.202A>T (p.Met68Leu)	TCAP (M68L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1078254	NM_003673.4(TCAP):c.208C>A (p.Arg70=)	TCAP	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 25 +2 more	GLikely benign
Select item 189789	NM_003673.4(TCAP):c.208C>T (p.Arg70Trp)	TCAP (R70W)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 202110	NM_003673.4(TCAP):c.209G>A (p.Arg70Gln)	TCAP (R70Q)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2G +5 more	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 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 1788263	NM_003673.4(TCAP):c.223G>T (p.Gly75Cys)	TCAP (G75C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 202111	NM_003673.4(TCAP):c.223G>A (p.Gly75Ser)	TCAP (G75S)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2G +4 more	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 500006	NM_003673.4(TCAP):c.225C>T (p.Gly75=)	TCAP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 202112	NM_003673.4(TCAP):c.226C>T (p.Arg76Cys)	TCAP (R76C)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +3 more	GUncertain significance
Select item 533541	NM_003673.4(TCAP):c.227G>A (p.Arg76His)	TCAP (R76H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	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 3223538	NM_003673.4(TCAP):c.254A>G (p.Tyr85Cys)	TCAP (Y85C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 518961	NM_003673.4(TCAP):c.261G>T (p.Arg87=)	TCAP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
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 195198	NM_003673.4(TCAP):c.270G>A (p.Pro90=)	TCAP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
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 517026	NM_003673.4(TCAP):c.279C>T (p.Ile93=)	TCAP	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 464947	NM_003673.4(TCAP):c.282C>T (p.Phe94=)	TCAP	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2G +3 more	GConflicting classifications of pathogenicity
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 263750	NM_003673.4(TCAP):c.300C>T (p.Gly100=)	TCAP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
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 1417468	NM_003673.4(TCAP):c.310GAG[1] (p.Glu105del)	TCAP (E105del)	Microsatellite (inframe_deletion)	not provided +3 more	GUncertain significance
Select item 288969	NM_003673.4(TCAP):c.313G>A (p.Glu105Lys)	TCAP (E105K)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 191776	NM_003673.4(TCAP):c.313G>C (p.Glu105Gln)	TCAP (E105Q)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 44706	NM_003673.4(TCAP):c.316C>T (p.Arg106Cys)	TCAP (R106C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 658818	NM_003673.4(TCAP):c.317G>T (p.Arg106Leu)	TCAP (R106L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1434453	NM_003673.4(TCAP):c.330del (p.Ile111fs)	TCAP (I111fs)	Deletion (frameshift variant)	Primary familial hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 202104	NM_003673.4(TCAP):c.334C>T (p.Gln112Ter)	TCAP (Q112*)	Single nucleotide variant (nonsense)	Primary familial hypertrophic cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 179032	NM_003673.4(TCAP):c.337C>T (p.Leu113Phe)	TCAP (L113F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 808258	NM_003673.4(TCAP):c.341A>G (p.Gln114Arg)	TCAP (Q114R)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 227986	NM_003673.4(TCAP):c.346C>T (p.Leu116=)	TCAP	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 202105	NM_003673.4(TCAP):c.353C>T (p.Ala118Val)	TCAP (A118V)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 1732581	NM_003673.4(TCAP):c.354G>C (p.Ala118=)	TCAP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1120294	NM_003673.4(TCAP):c.354G>A (p.Ala118=)	TCAP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
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 3324908	NM_003673.4(TCAP):c.375C>T (p.Gly125=)	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 811127	NM_003673.4(TCAP):c.386A>G (p.Asp129Gly)	TCAP (D129G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 25 +3 more	GUncertain significance
Select item 1441277	NM_003673.4(TCAP):c.387C>G (p.Asp129Glu)	TCAP (D129E)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 1736597	NM_003673.4(TCAP):c.396G>A (p.Glu132=)	TCAP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1155584	NM_003673.4(TCAP):c.402T>G (p.Ala134=)	TCAP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	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 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 180535	NM_003673.4(TCAP):c.421C>G (p.Pro141Ala)	TCAP (P141A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1003354	NM_003673.4(TCAP):c.445C>G (p.Pro149Ala)	TCAP (P149A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 286168	NM_003673.4(TCAP):c.447C>T (p.Pro149=)	TCAP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 222831	NM_003673.4(TCAP):c.448G>A (p.Gly150Ser)	TCAP (G150S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	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 2392492	NM_003673.4(TCAP):c.452C>T (p.Ala151Val)	TCAP (A151V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 863869	NM_003673.4(TCAP):c.452_453delinsTC (p.Ala151Val)	TCAP (A151V)	Indel (missense variant)	Hypertrophic cardiomyopathy 25 +2 more	GUncertain significance
Select item 44709	NM_003673.4(TCAP):c.453A>C (p.Ala151=)	TCAP	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 25 +5 more	GBenign
Select item 44710	NM_003673.4(TCAP):c.458G>A (p.Arg153His)	TCAP (R153H)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2G +5 more	GConflicting classifications of pathogenicity
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 502726	NM_003673.4(TCAP):c.460C>A (p.Arg154Ser)	TCAP (R154S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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