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.5740G>A (p.Glu1914Lys)	MYH7	Likely pathogenic	14	23883018	23883018	C	T	reviewed by expert panel	ClinGen:CA016441
single nucleotide variant	NM_000257.4(MYH7):c.5717C>G (p.Ala1906Gly)	MYH7	Likely pathogenic	14	23883041	23883041	G	C	criteria provided, single submitter	ClinGen:CA016404
Deletion	NM_000257.4(MYH7):c.5659del (p.Glu1887fs)	MYH7	Likely pathogenic	14	23883099	23883099	TC	T	criteria provided, single submitter	ClinGen:CA016354
single nucleotide variant	NM_000257.4(MYH7):c.5655G>A (p.Ala1885=)	MYH7	Pathogenic/Likely pathogenic	14	23883216	23883216	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16606815
single nucleotide variant	NM_000257.4(MYH7):c.5594A>C (p.Gln1865Pro)	MYH7	Pathogenic	14	23883277	23883277	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_000257.4(MYH7):c.5560-2A>C	MYH7	Likely pathogenic	14	23883313	23883313	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys)	MYH7	Likely pathogenic	14	23884362	23884362	C	T	reviewed by expert panel	ClinGen:CA016087
single nucleotide variant	NM_000257.4(MYH7):c.5398G>C (p.Ala1800Pro)	MYH7	Likely pathogenic	14	23884365	23884365	C	G	criteria provided, single submitter	ClinGen:CA016063
single nucleotide variant	NM_000257.4(MYH7):c.5380C>A (p.Gln1794Lys)	MYH7	Likely pathogenic	14	23884383	23884383	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016031
single nucleotide variant	NM_000257.4(MYH7):c.5378T>C (p.Leu1793Pro)	MYH7	Pathogenic/Likely pathogenic	14	23884385	23884385	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA016023,UniProtKB:P12883#VAR_073886,OMIM:160760.0037