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	NC_000023.10:g.(?_152990712)_(153650075_?)del	EMD	Pathogenic	X	152990712	153650075	na	na	criteria provided, single submitter	-
Duplication	NM_001159699.2(FHL1):c.670_671dup (p.Cys225fs)	FHL1	Likely pathogenic	X	135290733	135290734	T	TTA	criteria provided, single submitter	-
single nucleotide variant	NM_001159699.2(FHL1):c.576C>A (p.Tyr192Ter)	FHL1	Likely pathogenic	X	135290640	135290640	C	A	criteria provided, single submitter	-
Deletion	NM_000117.3(EMD):c.16del (p.Asp6fs)	EMD	Likely pathogenic	X	153607860	153607860	AG	A	criteria provided, single submitter	-
Duplication	NM_001159699.2(FHL1):c.841_844dup (p.Phe282fs)	FHL1	Pathogenic/Likely pathogenic	X	135292130	135292131	C	CTTTG	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000117.3(EMD):c.468_471del (p.Arg157fs)	EMD	Pathogenic	X	153609257	153609260	ACGGC	A	criteria provided, single submitter	-
Deletion	NM_000117.3(EMD):c.116_143del (p.Phe39fs)	EMD	Pathogenic	X	153608081	153608108	TCTTCGAGTACGAGACCCAGAGGCGGCGG	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000117.3(EMD):c.607del (p.Arg203fs)	EMD	Pathogenic	X	153609397	153609397	AC	A	criteria provided, single submitter	-
Duplication	NM_001159699.2(FHL1):c.406_409dup (p.Val137fs)	FHL1	Pathogenic	X	135289975	135289976	G	GGACC	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000023.10:g.(?_153607825)_(153609577_?)del	EMD	Pathogenic	X	153607825	153609577	na	na	criteria provided, single submitter	-