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
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
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
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
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.512C>A (p.Ser171Ter)	EMD	Pathogenic	X	153609304	153609304	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606711
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.123C>A (p.Tyr41Ter)	EMD	Pathogenic	X	153608090	153608090	C	A	criteria provided, single submitter	ClinGen:CA16616634
Deletion	NC_000023.10:g.(?_154379237)_(154381523_?)del	EMD	Pathogenic	X	154379237	154381523	na	na	criteria provided, single submitter	-
Deletion	NM_000117.3(EMD):c.121_155del (p.Tyr41fs)	EMD	Pathogenic	X	153608086	153608120	GAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCC	G	criteria provided, single submitter	ClinGen:CA645372696