ClinVar for MedGen (Select 400895) - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 1500330	NM_003673.4(TCAP):c.37G>A (p.Glu13Lys)	TCAP (E13K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 25 +2 more	GUncertain significance
Select item 1036986	NM_003673.4(TCAP):c.294_295delinsAG (p.Met99Val)	TCAP (M99V)	Indel (missense variant)	Hypertrophic cardiomyopathy 25 +2 more	GUncertain significance
Select item 1026939	NM_003673.4(TCAP):c.478A>G (p.Met160Val)	TCAP (M160V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
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 1019345	NM_003673.4(TCAP):c.457C>A (p.Arg153Ser)	TCAP (R153S)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +2 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 892449	NM_003673.4(TCAP):c.*418C>T	TCAP	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2G +1 more	GUncertain significance
Select item 891260	NM_003673.4(TCAP):c.*395C>T	TCAP	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2G +2 more	GConflicting classifications of pathogenicity
Select item 889708	NM_003673.4(TCAP):c.*199G>T	TCAP	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 889707	NM_003673.4(TCAP):c.*128G>A	TCAP	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 889706	NM_003673.4(TCAP):c.*54G>A	TCAP	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 25 +2 more	GConflicting classifications of pathogenicity
Select item 813977	NM_003673.4(TCAP):c.75G>A (p.Trp25Ter)	TCAP (W25*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 25 +2 more	GPathogenic/Likely pathogenic
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 533540	NM_003673.4(TCAP):c.50_51delinsCT (p.Arg17Pro)	TCAP (R17P)	Indel (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 522598	NM_003673.4(TCAP):c.34dup (p.Glu12fs)	TCAP (E12fs)	Duplication (frameshift variant)	Hypertrophic cardiomyopathy 25 +3 more	GPathogenic/Likely pathogenic
Select item 509098	NM_003673.4(TCAP):c.267G>A (p.Leu89=)	TCAP	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 25 +3 more	GLikely benign
Select item 464947	NM_003673.4(TCAP):c.282C>T (p.Phe94=)	TCAP	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 25 +3 more	GConflicting classifications of pathogenicity
Select item 446463	NM_003673.4(TCAP):c.90_91del (p.Ser31fs)	TCAP (S31fs)	Deletion (frameshift variant)	Abnormality of the musculature +1 more	GPathogenic/Likely pathogenic
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 323050	NM_003673.4(TCAP):c.*377G>C	TCAP	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 25 +2 more	GBenign/Likely benign
Select item 323049	NM_003673.4(TCAP):c.*297C>T	TCAP	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 323048	NM_003673.4(TCAP):c.*292G>A	TCAP	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 323047	NM_003673.4(TCAP):c.*76G>T	TCAP	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 323046	NM_003673.4(TCAP):c.111-13C>T	TCAP	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2G +1 more	GUncertain significance
Select item 323045	NM_003673.4(TCAP):c.111-13C>A	TCAP	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
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 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 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 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 217014	NM_003673.4(TCAP):c.25_31dup (p.Ser11Ter)	TCAP (S11*)	Duplication (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2G	GLikely pathogenic
Select item 202113	NM_003673.4(TCAP):c.110+5G>T	TCAP	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2G +1 more	GLikely pathogenic
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 202110	NM_003673.4(TCAP):c.209G>A (p.Arg70Gln)	TCAP (R70Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 25 +5 more	GUncertain significance
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 202101	NM_003673.4(TCAP):c.-13A>G	TCAP	Single nucleotide variant	Autosomal recessive limb-girdle muscular dystrophy type 2G +2 more	GLikely benign
Select item 195199	NM_003673.4(TCAP):c.389G>A (p.Arg130His)	TCAP (R130H)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 191777	NM_003673.4(TCAP):c.401C>A (p.Ala134Asp)	TCAP (A134D)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
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 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 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 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 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 140582	NM_003673.4(TCAP):c.32C>A (p.Ser11Ter)	TCAP (S11*)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2G	GLikely pathogenic
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 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 44709	NM_003673.4(TCAP):c.453A>C (p.Ala151=)	TCAP	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 25 +5 more	GBenign
Select item 44708	NM_003673.4(TCAP):c.388C>T (p.Arg130Cys)	TCAP (R130C)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 44706	NM_003673.4(TCAP):c.316C>T (p.Arg106Cys)	TCAP (R106C)	Single nucleotide variant (missense variant)	not specified +7 more	GBenign/Likely 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 5525	NM_003673.4(TCAP):c.157C>T (p.Gln53Ter)	TCAP (Q53*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 25 +2 more	GPathogenic/Likely pathogenic

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Items: 52