肥大型心筋症 - MGenReviews

肥大型心筋症

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.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.5254G>A (p.Glu1752Lys)	MYH7	Pathogenic/Likely pathogenic	14	23884619	23884619	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA015809,UniProtKB:P12883#VAR_072816
single nucleotide variant	NM_000257.4(MYH7):c.4664A>G (p.Glu1555Gly)	MYH7	Pathogenic	14	23885502	23885502	T	C	criteria provided, single submitter	ClinGen:CA015211,OMIM:160760.0050
single nucleotide variant	NM_000257.4(MYH7):c.4093A>G (p.Asn1365Asp)	MYH7	Likely pathogenic	14	23887495	23887495	T	C	criteria provided, single submitter	ClinGen:CA014452
Deletion	NM_000257.4(MYH7):c.3901_3903del (p.Leu1301del)	MYH7	Likely pathogenic	14	23888455	23888457	TCAG	T	criteria provided, single submitter	ClinGen:CA014209
single nucleotide variant	NM_000257.4(MYH7):c.3597C>G (p.Ser1199Arg)	MYH7	Likely pathogenic	14	23889183	23889183	G	C	criteria provided, single submitter	ClinGen:CA013829
single nucleotide variant	NM_000257.4(MYH7):c.3163C>A (p.Leu1055Met)	MYH7	Likely pathogenic	14	23891471	23891471	G	T	criteria provided, single submitter	ClinGen:CA013428
single nucleotide variant	NM_000257.4(MYH7):c.2761G>A (p.Glu921Lys)	MYH7	Likely pathogenic	14	23893277	23893277	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA013020,UniProtKB:P12883#VAR_042815
single nucleotide variant	NM_000257.4(MYH7):c.2734A>C (p.Lys912Gln)	MYH7	Likely pathogenic	14	23893304	23893304	T	G	criteria provided, single submitter	ClinGen:CA012978
single nucleotide variant	NM_000257.4(MYH7):c.2698G>A (p.Asp900Asn)	MYH7	Likely pathogenic	14	23893340	23893340	C	T	criteria provided, single submitter	ClinGen:CA012874