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.1594T>C (p.Ser532Pro)	MYH7	Pathogenic	14	23897088	23897088	A	G	reviewed by expert panel	ClinGen:CA011011,UniProtKB:P12883#VAR_017747,OMIM:160760.0022
single nucleotide variant	NM_000257.4(MYH7):c.2292C>G (p.Phe764Leu)	MYH7	Pathogenic	14	23894622	23894622	G	C	criteria provided, single submitter	ClinGen:CA012091,UniProtKB:P12883#VAR_017751,OMIM:160760.0023
single nucleotide variant	NM_000257.4(MYH7):c.4499G>C (p.Arg1500Pro)	MYH7	Pathogenic	14	23886382	23886382	C	G	criteria provided, single submitter	ClinGen:CA015044,UniProtKB:P12883#VAR_022369,OMIM:160760.0029
single nucleotide variant	NM_000257.4(MYH7):c.5134C>T (p.Arg1712Trp)	MYH7	Likely pathogenic	14	23884861	23884861	G	A	reviewed by expert panel	UniProtKB:P12883#VAR_042834,OMIM:160760.0032,ClinGen:CA015719
single nucleotide variant	NM_000257.4(MYH7):c.2609G>A (p.Arg870His)	MYH7	Pathogenic	14	23894048	23894048	C	T	reviewed by expert panel	ClinGen:CA012740,UniProtKB:P12883#VAR_004592,OMIM:160760.0034
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
single nucleotide variant	NM_000257.4(MYH7):c.1491G>T (p.Glu497Asp)	MYH7	Pathogenic/Likely pathogenic	14	23897796	23897796	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA010843,UniProtKB:P12883#VAR_073881,OMIM:160760.0038
single nucleotide variant	NM_000257.4(MYH7):c.2717A>G (p.Asp906Gly)	MYH7	Pathogenic	14	23893321	23893321	T	C	reviewed by expert panel	ClinGen:CA012936,UniProtKB:P12883#VAR_042814,OMIM:160760.0039
single nucleotide variant	NM_000257.4(MYH7):c.732+1G>A	MYH7	Pathogenic/Likely pathogenic	14	23900793	23900793	C	T	criteria provided, multiple submitters, no conflicts	OMIM:160760.0041
single nucleotide variant	NM_000257.4(MYH7):c.1357C>A (p.Arg453Ser)	MYH7	Pathogenic	14	23898214	23898214	G	T	reviewed by expert panel	UniProtKB:P12883#VAR_073880,OMIM:160760.0043,ClinGen:CA010621