シャルコー・マリー・トゥース病

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_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
single nucleotide variant	NM_014874.4(MFN2):c.694A>C (p.Thr232Pro)	MFN2	Likely pathogenic	1	12058921	12058921	A	C	criteria provided, single submitter	ClinGen:CA338438520
single nucleotide variant	NM_014874.4(MFN2):c.748C>T (p.Arg250Trp)	MFN2	Pathogenic	1	12059084	12059084	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA598916
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
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_170707.4(LMNA):c.1142del (p.Glu381fs)	LMNA	Pathogenic	1	156105897	156105897	GA	G	criteria provided, single submitter	ClinGen:CA658795535
Deletion	NM_000530.8(MPZ):c.434_437del (p.Tyr145fs)	MPZ	Pathogenic/Likely pathogenic	1	161276509	161276512	GACAT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658795555