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_000109.4(DMD):c.10530-1dup	DMD	Pathogenic	X	31165634	31165635	T	TC	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799646
single nucleotide variant	NM_004006.3(DMD):c.9691C>T (p.Gln3231Ter)	DMD	Pathogenic	X	31222194	31222194	G	A	criteria provided, single submitter	ClinGen:CA412648707
single nucleotide variant	NM_004006.3(DMD):c.8077C>T (p.Gln2693Ter)	DMD	Pathogenic	X	31645930	31645930	G	A	criteria provided, single submitter	ClinGen:CA412657352
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
single nucleotide variant	NM_170707.4(LMNA):c.391C>T (p.Gln131Ter)	LMNA	Pathogenic	1	156100442	156100442	C	T	criteria provided, single submitter	ClinGen:CA342815144
Duplication	NM_170707.4(LMNA):c.729dup (p.Ala244fs)	LMNA	Pathogenic	1	156104684	156104685	A	AT	criteria provided, single submitter	ClinGen:CA658795528
Indel	NM_170707.4(LMNA):c.744_745delinsTT (p.Arg249Trp)	LMNA	Pathogenic	1	156104700	156104701	GC	TT	criteria provided, single submitter	ClinGen:CA658795529