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_002880.4(RAF1):c.1837C>G (p.Leu613Val)	RAF1	Pathogenic	3	12626123	12626123	G	C	reviewed by expert panel	ClinGen:CA257066,UniProtKB:P04049#VAR_037821,OMIM:164760.0004
single nucleotide variant	NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln)	MYH7	Pathogenic	14	23898487	23898487	C	T	reviewed by expert panel	ClinGen:CA010365,UniProtKB:P12883#VAR_004574,OMIM:160760.0001
single nucleotide variant	NM_000257.4(MYH7):c.746G>A (p.Arg249Gln)	MYH7	Pathogenic/Likely pathogenic	14	23900677	23900677	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016781,UniProtKB:P12883#VAR_004569,OMIM:160760.0002
single nucleotide variant	NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys)	MYH7	Pathogenic	14	23898214	23898214	G	A	reviewed by expert panel	ClinGen:CA010630,UniProtKB:P12883#VAR_004576,OMIM:160760.0003
single nucleotide variant	NM_000257.4(MYH7):c.1750G>C (p.Gly584Arg)	MYH7	Pathogenic	14	23896932	23896932	C	G	reviewed by expert panel	ClinGen:CA011186,UniProtKB:P12883#VAR_004578,OMIM:160760.0004
single nucleotide variant	NM_000257.4(MYH7):c.1816G>A (p.Val606Met)	MYH7	Pathogenic/Likely pathogenic	14	23896866	23896866	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA011311,UniProtKB:P12883#VAR_004581,OMIM:160760.0005,OMIM:160760.0025,ClinVar:487487
single nucleotide variant	NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys)	MYH7	Pathogenic/Likely pathogenic	14	23893268	23893268	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA013034,UniProtKB:P12883#VAR_004594,OMIM:160760.0006
single nucleotide variant	NM_000257.4(MYH7):c.2845G>A (p.Glu949Lys)	MYH7	Likely pathogenic	14	23893193	23893193	C	T	reviewed by expert panel	ClinGen:CA013144,UniProtKB:P12883#VAR_004598,OMIM:160760.0007
single nucleotide variant	NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys)	MYH7	Pathogenic	14	23895023	23895023	G	A	reviewed by expert panel	ClinGen:CA011851,UniProtKB:P12883#VAR_004585,OMIM:160760.0008
single nucleotide variant	NM_000257.4(MYH7):c.2722C>G (p.Leu908Val)	MYH7	Pathogenic	14	23893316	23893316	G	C	reviewed by expert panel	ClinGen:CA012953,UniProtKB:P12883#VAR_004593,OMIM:160760.0010