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_170707.4(LMNA):c.59C>T (p.Pro20Leu)	LMNA	Likely pathogenic	1	156084768	156084768	C	T	criteria provided, single submitter	ClinGen:CA342807133
single nucleotide variant	NM_182961.4(SYNE1):c.15567G>A (p.Trp5189Ter)	SYNE1	Pathogenic	6	152646309	152646309	C	T	criteria provided, single submitter	ClinGen:CA366091091
single nucleotide variant	NM_182961.4(SYNE1):c.434T>A (p.Leu145His)	SYNE1	Likely pathogenic	6	152831475	152831475	A	T	criteria provided, single submitter	ClinGen:CA4059726
Duplication	NM_000117.3(EMD):c.184dup (p.Ser62fs)	EMD	Pathogenic	X	153608150	153608151	C	CT	criteria provided, single submitter	ClinGen:CA658799912
Deletion	NM_001347702.2(SYNE1):c.1455del (p.Glu486fs)	SYNE1	Likely pathogenic	6	152466677	152466677	CG	C	criteria provided, single submitter	ClinGen:CA658796842
single nucleotide variant	NM_182961.4(SYNE1):c.17229T>G (p.Tyr5743Ter)	SYNE1	Pathogenic	6	152629741	152629741	A	C	criteria provided, single submitter	ClinGen:CA366105771
Deletion	NC_000001.11:g.(?_156114899)_(156139859_?)del	LMNA	Pathogenic	1	156084690	156109650	na	na	criteria provided, single submitter	-
Deletion	NC_000001.11:g.(?_156114899)_(156126243_?)del	LMNA	Pathogenic	1	156084690	156096034	na	na	criteria provided, single submitter	-
Duplication	NM_170707.4(LMNA):c.52_53dup (p.Thr19fs)	LMNA	Pathogenic	1	156084759	156084760	G	GCT	criteria provided, single submitter	ClinGen:CA658795525
Duplication	NM_170707.4(LMNA):c.248_251dup (p.Glu84fs)	LMNA	Pathogenic	1	156084956	156084957	G	GCCGA	criteria provided, single submitter	ClinGen:CA658795526