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_014000.3(VCL):c.1762C>T (p.Gln588Ter)	VCL	Likely pathogenic	10	75856980	75856980	C	T	criteria provided, single submitter	ClinGen:CA273521
single nucleotide variant	NM_000257.4(MYH7):c.2602G>C (p.Ala868Pro)	MYH7	Likely pathogenic	14	23894055	23894055	C	G	reviewed by expert panel	ClinGen:CA012698
single nucleotide variant	NM_000257.4(MYH7):c.2543A>G (p.Glu848Gly)	MYH7	Pathogenic/Likely pathogenic	14	23894114	23894114	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA012584
single nucleotide variant	NM_000257.4(MYH7):c.2527G>A (p.Ala843Thr)	MYH7	Likely pathogenic	14	23894130	23894130	C	T	criteria provided, single submitter	ClinGen:CA012554
single nucleotide variant	NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp)	MYH7	Pathogenic	14	23894969	23894969	C	A	reviewed by expert panel	ClinGen:CA012022,UniProtKB:P12883#VAR_004589
single nucleotide variant	NM_000257.4(MYH7):c.2207T>C (p.Ile736Thr)	MYH7	Pathogenic	14	23894983	23894983	A	G	reviewed by expert panel	ClinGen:CA011970,UniProtKB:P12883#VAR_029439
single nucleotide variant	NM_000257.4(MYH7):c.1969A>C (p.Lys657Gln)	MYH7	Likely pathogenic	14	23896061	23896061	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA011527
single nucleotide variant	NM_000257.4(MYH7):c.1727A>G (p.His576Arg)	MYH7	Pathogenic/Likely pathogenic	14	23896955	23896955	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA011163,UniProtKB:P12883#VAR_042796
single nucleotide variant	NM_000257.4(MYH7):c.1324C>T (p.Arg442Cys)	MYH7	Pathogenic/Likely pathogenic	14	23898247	23898247	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA010561
single nucleotide variant	NM_000257.4(MYH7):c.1012G>A (p.Val338Met)	MYH7	Likely pathogenic	14	23899110	23899110	C	T	reviewed by expert panel	ClinGen:CA010061