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.1157A>G (p.Tyr386Cys)	MYH7	Likely pathogenic	14	23898538	23898538	T	C	reviewed by expert panel	ClinGen:CA010299
single nucleotide variant	NM_000257.4(MYH7):c.427C>T (p.Arg143Trp)	MYH7	Pathogenic/Likely pathogenic	14	23901923	23901923	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA014751,UniProtKB:P12883#VAR_029431
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.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.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_005159.5(ACTC1):c.866T>C (p.Ile289Thr)	ACTC1	Likely pathogenic	15	35083439	35083439	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA019967
single nucleotide variant	NM_000363.5(TNNI3):c.611G>A (p.Arg204His)	TNNI3	Pathogenic/Likely pathogenic	19	55663224	55663224	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA022060,UniProtKB:P19429#VAR_042746
single nucleotide variant	NM_000363.5(TNNI3):c.575G>C (p.Arg192Pro)	TNNI3	Likely pathogenic	19	55663260	55663260	C	G	criteria provided, single submitter	ClinGen:CA021964
single nucleotide variant	NM_000363.5(TNNI3):c.568G>T (p.Asp190Tyr)	TNNI3	Likely pathogenic	19	55663267	55663267	C	A	criteria provided, single submitter	ClinGen:CA021939
single nucleotide variant	NM_000363.5(TNNI3):c.509G>A (p.Arg170Gln)	TNNI3	Pathogenic/Likely pathogenic	19	55665438	55665438	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA021784