特発性拡張型心筋症

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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.2302G>A (p.Gly768Arg)	MYH7	Pathogenic/Likely pathogenic	14	23894612	23894612	C	T	criteria provided, multiple submitters, no conflicts	UniProtKB:P12883#VAR_019859,ClinGen:CA012108
single nucleotide variant	NM_000257.4(MYH7):c.2246T>A (p.Leu749Gln)	MYH7	Likely pathogenic	14	23894944	23894944	A	T	criteria provided, single submitter	ClinGen:CA012055
single nucleotide variant	NM_000257.4(MYH7):c.2129C>A (p.Pro710His)	MYH7	Likely pathogenic	14	23895206	23895206	G	T	reviewed by expert panel	ClinGen:CA011747
single nucleotide variant	NM_000257.4(MYH7):c.1954A>G (p.Arg652Gly)	MYH7	Pathogenic	14	23896451	23896451	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA011498
single nucleotide variant	NM_000257.4(MYH7):c.1826A>G (p.Tyr609Cys)	MYH7	Likely pathogenic	14	23896856	23896856	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA011319
single nucleotide variant	NM_000257.4(MYH7):c.1549C>A (p.Leu517Met)	MYH7	Likely pathogenic	14	23897738	23897738	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA010927,UniProtKB:P12883#VAR_029435
single nucleotide variant	NM_000257.4(MYH7):c.1436A>G (p.Asn479Ser)	MYH7	Pathogenic/Likely pathogenic	14	23897851	23897851	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA010759,UniProtKB:P12883#VAR_019852
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