エメリー・ドレイフス型筋ジストロフィー

小児・神経疾患

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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
Duplication	NM_000117.3(EMD):c.153dup (p.Ser52fs)	EMD	Pathogenic	X	153608114	153608115	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581192
single nucleotide variant	NM_000117.3(EMD):c.187+1G>T	EMD	Pathogenic	X	153608155	153608155	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA335148
single nucleotide variant	NM_000117.3(EMD):c.83-2A>G	EMD	Likely pathogenic	X	153608048	153608048	A	G	criteria provided, single submitter	ClinGen:CA273634
single nucleotide variant	NM_000117.3(EMD):c.266-2A>G	EMD	Pathogenic	X	153608592	153608592	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA273149
single nucleotide variant	NM_000117.3(EMD):c.450-2A>G	EMD	Pathogenic/Likely pathogenic	X	153609240	153609240	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA220368
single nucleotide variant	NM_000117.3(EMD):c.355C>T (p.Gln119Ter)	EMD	Pathogenic	X	153608683	153608683	C	T	criteria provided, single submitter	ClinGen:CA220365
Deletion	NM_000117.3(EMD):c.284_298del (p.Tyr95_Tyr99del)	EMD	Likely pathogenic	X	153608607	153608621	ACTACTATGAAGAGAG	A	criteria provided, single submitter	ClinGen:CA220362
Insertion	NM_000117.3(EMD):c.239_240insT (p.Glu80fs)	EMD	Pathogenic	X	153608353	153608354	A	AT	criteria provided, single submitter	ClinGen:CA220361
single nucleotide variant	NM_001159699.2(FHL1):c.417C>G (p.His139Gln)	FHL1	Pathogenic	X	135289988	135289988	C	G	criteria provided, single submitter	ClinGen:CA121571,UniProtKB:Q13642#VAR_075354,OMIM:300163.0016
single nucleotide variant	NM_001159699.2(FHL1):c.497G>A (p.Cys166Tyr)	FHL1	Pathogenic	X	135290068	135290068	G	A	criteria provided, single submitter	ClinGen:CA121552,UniProtKB:Q13642#VAR_075356,OMIM:300163.0008