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.2495T>C (p.Leu832Pro)	MYH7	Likely pathogenic	14	23894162	23894162	A	G	criteria provided, single submitter	ClinGen:CA012461
single nucleotide variant	NM_000257.4(MYH7):c.2478T>A (p.Asn826Lys)	MYH7	Likely pathogenic	14	23894179	23894179	A	T	criteria provided, single submitter	ClinGen:CA012437
single nucleotide variant	NM_000257.4(MYH7):c.2346C>A (p.Ser782Arg)	MYH7	Pathogenic/Likely pathogenic	14	23894568	23894568	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012164
single nucleotide variant	NM_000257.4(MYH7):c.2302G>C (p.Gly768Arg)	MYH7	Pathogenic	14	23894612	23894612	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA012115,UniProtKB:P12883#VAR_019859
single nucleotide variant	NM_000257.4(MYH7):c.2198G>T (p.Gly733Val)	MYH7	Likely pathogenic	14	23894992	23894992	C	A	criteria provided, single submitter	ClinGen:CA011936
single nucleotide variant	NM_000257.4(MYH7):c.2191C>T (p.Pro731Ser)	MYH7	Pathogenic/Likely pathogenic	14	23894999	23894999	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA011922
single nucleotide variant	NM_000257.4(MYH7):c.2087A>G (p.Asn696Ser)	MYH7	Pathogenic/Likely pathogenic	14	23895248	23895248	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA011651,UniProtKB:P12883#VAR_020810
single nucleotide variant	NM_000257.4(MYH7):c.2018T>G (p.Ile673Ser)	MYH7	Likely pathogenic	14	23896012	23896012	A	C	criteria provided, single submitter	ClinGen:CA011577
single nucleotide variant	NM_000257.4(MYH7):c.1615A>G (p.Met539Val)	MYH7	Likely pathogenic	14	23897067	23897067	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA011068
single nucleotide variant	NM_000257.4(MYH7):c.1400T>C (p.Ile467Thr)	MYH7	Pathogenic	14	23898171	23898171	A	G	criteria provided, single submitter	ClinGen:CA010686