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_000363.5(TNNI3):c.497C>T (p.Ser166Phe)	TNNI3	Pathogenic/Likely pathogenic	19	55665450	55665450	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA021763,UniProtKB:P19429#VAR_029454
single nucleotide variant	NM_000363.5(TNNI3):c.508C>T (p.Arg170Trp)	TNNI3	Pathogenic/Likely pathogenic	19	55665439	55665439	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA021778
single nucleotide variant	NM_000363.5(TNNI3):c.574C>T (p.Arg192Cys)	TNNI3	Pathogenic/Likely pathogenic	19	55663261	55663261	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA021951
single nucleotide variant	NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp)	TNNI3	Pathogenic/Likely pathogenic	19	55665463	55665463	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA021738
single nucleotide variant	NM_000363.5(TNNI3):c.557G>A (p.Arg186Gln)	TNNI3	Pathogenic/Likely pathogenic	19	55663278	55663278	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA021907,UniProtKB:P19429#VAR_019876
single nucleotide variant	NM_000363.5(TNNI3):c.544G>A (p.Glu182Lys)	TNNI3	Pathogenic/Likely pathogenic	19	55665403	55665403	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA021848
single nucleotide variant	NM_000363.5(TNNI3):c.485G>C (p.Arg162Pro)	TNNI3	Pathogenic/Likely pathogenic	19	55665462	55665462	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA021749,UniProtKB:P19429#VAR_019874
single nucleotide variant	NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln)	TNNI3	Pathogenic/Likely pathogenic	19	55665462	55665462	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA021744,UniProtKB:P19429#VAR_042745
single nucleotide variant	NM_000363.5(TNNI3):c.470C>T (p.Ala157Val)	TNNI3	Pathogenic/Likely pathogenic	19	55665477	55665477	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA021720,UniProtKB:P19429#VAR_019873
single nucleotide variant	NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln)	TNNI3	Pathogenic/Likely pathogenic	19	55665513	55665513	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA021673