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
Deletion	NM_000117.3(EMD):c.581_582del (p.Ser194fs)	EMD	Pathogenic	X	153609373	153609374	TCA	T	criteria provided, single submitter	ClinGen:CA658799916
Duplication	NM_000117.3(EMD):c.135dup (p.Arg46fs)	EMD	Pathogenic/Likely pathogenic	X	153608100	153608101	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799911
Duplication	NM_001159699.2(FHL1):c.661dup (p.Asp221fs)	FHL1	Pathogenic/Likely pathogenic	X	135290723	135290724	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799874
single nucleotide variant	NM_001159699.2(FHL1):c.416A>G (p.His139Arg)	FHL1	Pathogenic	X	135289987	135289987	A	G	criteria provided, single submitter	ClinGen:CA414608363
Duplication	NM_001159699.2(FHL1):c.360dup (p.Phe121fs)	FHL1	Pathogenic	X	135289329	135289330	G	GC	criteria provided, single submitter	ClinGen:CA658799873
Duplication	NM_000117.3(EMD):c.184dup (p.Ser62fs)	EMD	Pathogenic	X	153608150	153608151	C	CT	criteria provided, single submitter	ClinGen:CA658799912
single nucleotide variant	NM_000117.3(EMD):c.484C>T (p.Gln162Ter)	EMD	Pathogenic	X	153609276	153609276	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA415258537
single nucleotide variant	NM_000117.3(EMD):c.12C>G (p.Tyr4Ter)	EMD	Pathogenic	X	153607856	153607856	C	G	criteria provided, single submitter	ClinGen:CA415256838
single nucleotide variant	NM_000117.3(EMD):c.430G>T (p.Glu144Ter)	EMD	Pathogenic	X	153609143	153609143	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA415258268
Deletion	NM_001159699.2(FHL1):c.466_470del (p.Ser156fs)	FHL1	Pathogenic	X	135290037	135290041	AAGCTT	A	criteria provided, single submitter	ClinGen:CA658659045