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.23979-2A>G	SYNE1	Pathogenic	6	152476179	152476179	T	C	criteria provided, single submitter	ClinGen:CA366087986
Duplication	NM_170707.4(LMNA):c.978dup (p.Leu327fs)	LMNA	Pathogenic	1	156105732	156105733	C	CA	criteria provided, single submitter	ClinGen:CA658795532
Duplication	NM_170707.4(LMNA):c.1524_1534dup (p.Leu512fs)	LMNA	Pathogenic	1	156106936	156106937	C	CCCCCCTACCGA	criteria provided, single submitter	ClinGen:CA658795538
single nucleotide variant	NM_170707.4(LMNA):c.513+2T>G	LMNA	Likely pathogenic	1	156100566	156100566	T	G	criteria provided, single submitter	ClinGen:CA342815749
single nucleotide variant	NM_170707.4(LMNA):c.1608+5G>A	LMNA	Likely pathogenic	1	156107028	156107028	G	A	criteria provided, single submitter	ClinGen:CA658795540
single nucleotide variant	NM_170707.4(LMNA):c.611T>G (p.Leu204Arg)	LMNA	Likely pathogenic	1	156104291	156104291	T	G	criteria provided, single submitter	ClinGen:CA342817035
single nucleotide variant	NM_170707.4(LMNA):c.1559G>A (p.Trp520Ter)	LMNA	Pathogenic	1	156106974	156106974	G	A	criteria provided, single submitter	ClinGen:CA342823348
single nucleotide variant	NM_182961.4(SYNE1):c.21732C>A (p.Tyr7244Ter)	SYNE1	Pathogenic	6	152542106	152542106	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA366104525
single nucleotide variant	NM_170707.4(LMNA):c.1494G>A (p.Trp498Ter)	LMNA	Pathogenic	1	156106909	156106909	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA342822966
Deletion	NM_182961.4(SYNE1):c.1369del (p.Asp457fs)	SYNE1	Pathogenic	6	152793530	152793530	TC	T	criteria provided, single submitter	ClinGen:CA658796853