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.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
single nucleotide variant	NM_000257.4(MYH7):c.1316T>G (p.Met439Arg)	MYH7	Likely pathogenic	14	23898255	23898255	A	C	criteria provided, single submitter	ClinGen:CA010528
single nucleotide variant	NM_000257.4(MYH7):c.1315A>G (p.Met439Val)	MYH7	Likely pathogenic	14	23898256	23898256	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA010515
single nucleotide variant	NM_000257.4(MYH7):c.1234A>T (p.Thr412Ser)	MYH7	Pathogenic	14	23898461	23898461	T	A	criteria provided, single submitter	ClinGen:CA010415
single nucleotide variant	NM_000257.4(MYH7):c.1051A>G (p.Lys351Glu)	MYH7	Pathogenic/Likely pathogenic	14	23899071	23899071	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA010108,UniProtKB:P12883#VAR_042775
single nucleotide variant	NM_000257.4(MYH7):c.871T>C (p.Ser291Pro)	MYH7	Likely pathogenic	14	23900134	23900134	A	G	criteria provided, single submitter	ClinGen:CA016911