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_000257.4(MYH7):c.727C>T (p.Arg243Cys)	MYH7	Pathogenic/Likely pathogenic	14	23900799	23900799	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016694
single nucleotide variant	NM_000257.4(MYH7):c.788T>C (p.Ile263Thr)	MYH7	Pathogenic	14	23900635	23900635	A	G	reviewed by expert panel	ClinGen:CA016824,UniProtKB:P12883#VAR_004571
single nucleotide variant	NM_000363.5(TNNI3):c.422G>A (p.Arg141Gln)	TNNI3	Pathogenic/Likely pathogenic	19	55665525	55665525	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA021635,UniProtKB:P19429#VAR_019872
single nucleotide variant	NM_000363.5(TNNI3):c.431T>C (p.Leu144Pro)	TNNI3	Likely pathogenic	19	55665516	55665516	A	G	criteria provided, single submitter	ClinGen:CA021654
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
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.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.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.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.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