"Revvity Omics, Revvity"[submitter] AND "TCAP"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 44704	NM_003673.4(TCAP):c.16C>A (p.Leu6Met)	TCAP (L6M)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +3 more	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 286261	NM_003673.4(TCAP):c.103G>T (p.Glu35Ter)	TCAP (E35*)	Single nucleotide variant (nonsense)	not provided +2 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 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 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 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 2436993	NM_003673.4(TCAP):c.217A>G (p.Ile73Val)	TCAP (I73V)	Single nucleotide variant (missense variant)	not provided	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 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 177970	NM_003673.4(TCAP):c.269C>T (p.Pro90Leu)	TCAP (P90L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 25 +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 2436992	NM_003673.4(TCAP):c.326C>A (p.Thr109Asn)	TCAP (T109N)	Single nucleotide variant (missense variant)	not provided	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 464948	NM_003673.4(TCAP):c.386A>C (p.Asp129Ala)	TCAP (D129A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 179714	NM_003673.4(TCAP):c.388C>A (p.Arg130Ser)	TCAP (R130S)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +3 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 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 283220	NM_003673.4(TCAP):c.460C>T (p.Arg154Cys)	TCAP (R154C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 25 +4 more	GUncertain significance
Select item 952272	NM_003673.4(TCAP):c.461G>A (p.Arg154His)	TCAP (R154H)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 44711	NM_003673.4(TCAP):c.472C>A (p.Arg158Ser)	TCAP (R158S)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity

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Items: 22