シャルコー・マリー・トゥース病

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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_001376.5(DYNC1H1):c.9959C>T (p.Ala3320Val)	DYNC1H1	Likely pathogenic	14	102498684	102498684	C	T	criteria provided, single submitter	ClinGen:CA391020479
single nucleotide variant	NM_007254.4(PNKP):c.636+1G>T	PNKP	Pathogenic/Likely pathogenic	19	50367435	50367435	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA406886579
single nucleotide variant	NM_014874.4(MFN2):c.720C>G (p.Phe240Leu)	MFN2	Likely pathogenic	1	12059056	12059056	C	G	criteria provided, single submitter	ClinGen:CA338438901
single nucleotide variant	NM_005548.3(KARS1):c.1430G>A (p.Arg477His)	KARS1	Pathogenic	16	75663434	75663434	C	T	criteria provided, single submitter	ClinVar:437932,ClinGen:CA8177232,OMIM:601421.0007
single nucleotide variant	NM_001376.5(DYNC1H1):c.10172C>T (p.Pro3391Leu)	DYNC1H1	Likely pathogenic	14	102499494	102499494	C	T	criteria provided, single submitter	ClinGen:CA391022550
Deletion	NM_001540.5(HSPB1):c.512del (p.Lys171fs)	HSPB1	Pathogenic/Likely pathogenic	7	75933383	75933383	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645509173
single nucleotide variant	NM_014874.4(MFN2):c.493C>T (p.His165Tyr)	MFN2	Pathogenic	1	12057372	12057372	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA338436254
single nucleotide variant	NM_170707.4(LMNA):c.234G>T (p.Lys78Asn)	LMNA	Likely pathogenic	1	156084943	156084943	G	T	criteria provided, single submitter	ClinGen:CA342808375
Duplication	NM_000530.8(MPZ):c.266_270dup (p.Glu91fs)	MPZ	Pathogenic/Likely pathogenic	1	161276675	161276676	C	CGTCAA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658653649
single nucleotide variant	NM_006158.5(NEFL):c.1195C>T (p.Arg399Ter)	NEFL	Pathogenic/Likely pathogenic	8	24811284	24811284	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA370620660