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_182961.4(SYNE1):c.16390-2A>G	SYNE1	Pathogenic/Likely pathogenic	6	152639400	152639400	T	C	criteria provided, multiple submitters, no conflicts	OMIM:608441.0001
single nucleotide variant	NM_170707.4(LMNA):c.143G>C (p.Arg48Pro)	LMNA	Pathogenic/Likely pathogenic	1	156084852	156084852	G	C	criteria provided, multiple submitters, no conflicts	-
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	-
single nucleotide variant	NM_182961.4(SYNE1):c.10145+1G>A	SYNE1	Pathogenic/Likely pathogenic	6	152685981	152685981	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_170707.4(LMNA):c.1116G>C (p.Glu372Asp)	LMNA	Pathogenic/Likely pathogenic	1	156105871	156105871	G	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_182961.4(SYNE1):c.20006dup (p.Ala6670fs)	SYNE1	Pathogenic/Likely pathogenic	6	152560728	152560729	C	CT	criteria provided, multiple submitters, no conflicts	-
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
Deletion	NM_170707.4(LMNA):c.991_992del (p.Arg331fs)	LMNA	Pathogenic/Likely pathogenic	1	156105745	156105746	AGC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658795533
Deletion	NM_182961.4(SYNE1):c.639del (p.His214fs)	SYNE1	Pathogenic/Likely pathogenic	6	152826475	152826475	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA571149263