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
Indel	NM_000257.4(MYH7):c.2666_2667delinsAA (p.Leu889Gln)	MYH7	Likely pathogenic	14	23893990	23893991	GA	TT	criteria provided, single submitter	ClinGen:CA012800
single nucleotide variant	NM_000257.4(MYH7):c.2605C>T (p.Arg869Cys)	MYH7	Pathogenic/Likely pathogenic	14	23894052	23894052	G	A	criteria provided, multiple submitters, no conflicts	UniProtKB:P12883#VAR_020815
single nucleotide variant	NM_000257.4(MYH7):c.2593A>G (p.Lys865Glu)	MYH7	Likely pathogenic	14	23894064	23894064	T	C	reviewed by expert panel	ClinGen:CA012685
single nucleotide variant	NM_000257.4(MYH7):c.2555T>A (p.Met852Lys)	MYH7	Likely pathogenic	14	23894102	23894102	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012614
single nucleotide variant	NM_000257.4(MYH7):c.2518C>A (p.Leu840Met)	MYH7	Likely pathogenic	14	23894139	23894139	G	T	criteria provided, single submitter	ClinGen:CA012529
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