肥大型心筋症 - MGenReviews

肥大型心筋症

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp)	TNNT2	Pathogenic	1	201333464	201333464	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA004526,UniProtKB:P45379#VAR_016198,OMIM:191045.0007
single nucleotide variant	NM_001276345.2(TNNT2):c.421C>T (p.Arg141Trp)	TNNT2	Pathogenic/Likely pathogenic	1	201333494	201333494	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA090410,OMIM:191045.0008
single nucleotide variant	NM_000363.5(TNNI3):c.433C>G (p.Arg145Gly)	TNNI3	Pathogenic	19	55665514	55665514	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA021660,UniProtKB:P19429#VAR_007603,OMIM:191044.0001
single nucleotide variant	NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn)	TNNI3	Pathogenic/Likely pathogenic	19	55663249	55663249	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA022006,UniProtKB:P19429#VAR_016085,OMIM:191044.0004
single nucleotide variant	NM_000363.5(TNNI3):c.575G>A (p.Arg192His)	TNNI3	Pathogenic	19	55663260	55663260	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA021957,UniProtKB:P19429#VAR_016084,OMIM:191044.0006
single nucleotide variant	NM_000363.5(TNNI3):c.532A>G (p.Lys178Glu)	TNNI3	Pathogenic	19	55665415	55665415	T	C	criteria provided, single submitter	ClinGen:CA021835,UniProtKB:P19429#VAR_016082,OMIM:191044.0007
single nucleotide variant	NM_000363.5(TNNI3):c.433C>T (p.Arg145Trp)	TNNI3	Pathogenic	19	55665514	55665514	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA021667,UniProtKB:P19429#VAR_016080,OMIM:191044.0008
single nucleotide variant	NM_000363.5(TNNI3):c.61C>T (p.Arg21Cys)	TNNI3	Pathogenic	19	55668465	55668465	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA022092,OMIM:191044.0016
single nucleotide variant	NM_003280.3(TNNC1):c.476G>A (p.Gly159Asp)	TNNC1	Likely pathogenic	3	52485301	52485301	C	T	criteria provided, single submitter	ClinGen:CA122392,OMIM:191040.0001
single nucleotide variant	NM_003280.3(TNNC1):c.23C>T (p.Ala8Val)	TNNC1	Pathogenic/Likely pathogenic	3	52488009	52488009	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA122397,UniProtKB:P63316#VAR_063070,OMIM:191040.0003