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.2167C>T (p.Arg723Cys)	MYH7	Pathogenic	14	23895023	23895023	G	A	reviewed by expert panel	ClinGen:CA011851,UniProtKB:P12883#VAR_004585,OMIM:160760.0008
single nucleotide variant	NM_000257.4(MYH7):c.2722C>G (p.Leu908Val)	MYH7	Pathogenic	14	23893316	23893316	G	C	reviewed by expert panel	ClinGen:CA012953,UniProtKB:P12883#VAR_004593,OMIM:160760.0010
single nucleotide variant	NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg)	MYH7	Pathogenic	14	23894969	23894969	C	G	reviewed by expert panel	ClinGen:CA012013,UniProtKB:P12883#VAR_004588,OMIM:160760.0011
single nucleotide variant	NM_000257.4(MYH7):c.767G>A (p.Gly256Glu)	MYH7	Pathogenic	14	23900656	23900656	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016810,UniProtKB:P12883#VAR_004570,OMIM:160760.0012
single nucleotide variant	NM_000257.4(MYH7):c.1208G>T (p.Arg403Leu)	MYH7	Pathogenic	14	23898487	23898487	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA010374,UniProtKB:P12883#VAR_004573,OMIM:160760.0014
single nucleotide variant	NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp)	MYH7	Pathogenic	14	23898488	23898488	G	A	reviewed by expert panel	ClinGen:CA010360,UniProtKB:P12883#VAR_004575,OMIM:160760.0015
single nucleotide variant	NM_000257.4(MYH7):c.2155C>T (p.Arg719Trp)	MYH7	Pathogenic	14	23895180	23895180	G	A	reviewed by expert panel	ClinGen:CA011779,UniProtKB:P12883#VAR_004584,OMIM:160760.0017
single nucleotide variant	NM_000257.4(MYH7):c.2146G>A (p.Gly716Arg)	MYH7	Pathogenic	14	23895189	23895189	C	T	reviewed by expert panel	ClinGen:CA011770,UniProtKB:P12883#VAR_004583,OMIM:160760.0018
single nucleotide variant	NM_000257.4(MYH7):c.2803G>A (p.Glu935Lys)	MYH7	Likely pathogenic	14	23893235	23893235	C	T	criteria provided, single submitter	UniProtKB:P12883#VAR_004597,OMIM:160760.0019,ClinGen:CA013118
single nucleotide variant	NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln)	MYH7	Pathogenic	14	23895179	23895179	C	T	reviewed by expert panel	ClinGen:CA011785,UniProtKB:P12883#VAR_017749,OMIM:160760.0021