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_001159699.2(FHL1):c.525del (p.Lys176fs)	FHL1	Likely pathogenic	X	135290095	135290095	GC	G	criteria provided, single submitter	ClinGen:CA16621206
single nucleotide variant	NM_000117.3(EMD):c.123C>A (p.Tyr41Ter)	EMD	Pathogenic	X	153608090	153608090	C	A	criteria provided, single submitter	ClinGen:CA16616634
Deletion	NM_001159699.2(FHL1):c.108del (p.Gln37fs)	FHL1	Pathogenic	X	135288651	135288651	TG	T	criteria provided, single submitter	ClinGen:CA16616433
single nucleotide variant	NM_000117.3(EMD):c.419T>A (p.Leu140Ter)	EMD	Pathogenic	X	153609132	153609132	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16608835
single nucleotide variant	NM_000117.3(EMD):c.512C>A (p.Ser171Ter)	EMD	Pathogenic	X	153609304	153609304	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606711
single nucleotide variant	NM_001159699.2(FHL1):c.261C>A (p.Cys87Ter)	FHL1	Pathogenic/Likely pathogenic	X	135289231	135289231	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606517
Deletion	NM_000117.3(EMD):c.251_255del (p.Leu84fs)	EMD	Pathogenic	X	153608362	153608366	TTACTC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10561551,LOVD 3:EMD_000023,OMIM:300384.0010
single nucleotide variant	NM_000117.3(EMD):c.3G>A (p.Met1Ile)	EMD	Pathogenic	X	153607847	153607847	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603810
single nucleotide variant	NM_000117.3(EMD):c.103G>T (p.Glu35Ter)	EMD	Pathogenic	X	153608070	153608070	G	T	criteria provided, single submitter	ClinGen:CA10603420
Deletion	NM_000117.3(EMD):c.60del (p.Asn20fs)	EMD	Pathogenic/Likely pathogenic	X	153607904	153607904	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603419