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
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
single nucleotide variant	NM_170707.4(LMNA):c.83G>A (p.Arg28Gln)	LMNA	Pathogenic/Likely pathogenic	1	156084792	156084792	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605120
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_170707.4(LMNA):c.1157+1G>T	LMNA	Pathogenic/Likely pathogenic	1	156105913	156105913	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584128
single nucleotide variant	NM_170707.4(LMNA):c.513+1G>A	LMNA	Pathogenic/Likely pathogenic	1	156100565	156100565	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584120
single nucleotide variant	NM_170707.4(LMNA):c.356+1G>C	LMNA	Pathogenic/Likely pathogenic	1	156085066	156085066	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576364
single nucleotide variant	NM_170707.4(LMNA):c.1228C>T (p.Gln410Ter)	LMNA	Pathogenic/Likely pathogenic	1	156106075	156106075	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602394
single nucleotide variant	NM_182961.4(SYNE1):c.9625A>T (p.Lys3209Ter)	SYNE1	Pathogenic/Likely pathogenic	6	152690632	152690632	T	A	criteria provided, multiple submitters, no conflicts	ClinVar:424801,ClinGen:CA351284
single nucleotide variant	NM_182961.4(SYNE1):c.16421C>A (p.Ser5474Ter)	SYNE1	Pathogenic/Likely pathogenic	6	152639367	152639367	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA277222
Deletion	NM_170707.4(LMNA):c.859del (p.Ala287fs)	LMNA	Pathogenic/Likely pathogenic	1	156105022	156105022	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA018752