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.799C>G (p.Leu267Val)	MYH7	Likely pathogenic	14	23900206	23900206	G	C	criteria provided, single submitter	ClinGen:CA016853
single nucleotide variant	NM_000257.4(MYH7):c.739T>C (p.Phe247Leu)	MYH7	Likely pathogenic	14	23900684	23900684	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA016744
single nucleotide variant	NM_000257.4(MYH7):c.596C>T (p.Ala199Val)	MYH7	Pathogenic/Likely pathogenic	14	23901013	23901013	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016513
single nucleotide variant	NM_000257.4(MYH7):c.4498C>T (p.Arg1500Trp)	MYH7	Pathogenic/Likely pathogenic	14	23886383	23886383	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA015030
single nucleotide variant	NM_000257.4(MYH7):c.4066G>A (p.Glu1356Lys)	MYH7	Pathogenic	14	23887522	23887522	C	T	reviewed by expert panel	UniProtKB:P12883#VAR_042824,ClinGen:CA014400
single nucleotide variant	NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln)	MYH7	Pathogenic/Likely pathogenic	14	23893250	23893250	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA013084
single nucleotide variant	NM_000257.4(MYH7):c.2782G>A (p.Asp928Asn)	MYH7	Pathogenic/Likely pathogenic	14	23893256	23893256	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA013046,UniProtKB:P12883#VAR_029444
single nucleotide variant	NM_000257.4(MYH7):c.2710C>T (p.Arg904Cys)	MYH7	Pathogenic	14	23893328	23893328	G	A	reviewed by expert panel	ClinGen:CA012904
single nucleotide variant	NM_000257.4(MYH7):c.2606G>A (p.Arg869His)	MYH7	Likely pathogenic	14	23894051	23894051	C	T	reviewed by expert panel	ClinGen:CA012723,UniProtKB:P12883#VAR_042810
single nucleotide variant	NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys)	MYH7	Pathogenic/Likely pathogenic	14	23894085	23894085	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA012656,UniProtKB:P12883#VAR_039563