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.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.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.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_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.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.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.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.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_003673.4(TCAP):c.1A>G (p.Met1Val)	TCAP	Likely pathogenic	17	37821613	37821613	A	G	criteria provided, single submitter	-
Duplication	NM_003673.4(TCAP):c.34dup (p.Glu12fs)	TCAP	Pathogenic/Likely pathogenic	17	37821644	37821645	C	CG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798823