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
single nucleotide variant	NM_024577.4(SH3TC2):c.806-1G>A	SH3TC2	Likely pathogenic	5	148418054	148418054	C	T	criteria provided, single submitter	ClinGen:CA361673292
single nucleotide variant	NM_024577.4(SH3TC2):c.3328-1G>T	SH3TC2	Pathogenic	5	148388565	148388565	C	A	criteria provided, single submitter	ClinGen:CA361664762
single nucleotide variant	NM_014845.6(FIG4):c.498-2A>G	FIG4	Likely pathogenic	6	110056351	110056351	A	G	criteria provided, single submitter	ClinGen:CA365218988
Deletion	NM_014845.6(FIG4):c.1205del (p.Asn402fs)	FIG4	Pathogenic	6	110081519	110081519	CA	C	criteria provided, single submitter	ClinGen:CA658796799
Deletion	NC_000007.14:g.(?_76303782)_(76304193_?)del	HSPB1	Likely pathogenic	7	75933099	75933510	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001540.5(HSPB1):c.116C>T (p.Pro39Leu)	HSPB1	Pathogenic	7	75932145	75932145	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA4306259
single nucleotide variant	NM_002047.4(GARS1):c.1001T>A (p.Ile334Asn)	GARS1	Pathogenic/Likely pathogenic	7	30651831	30651831	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA367125516,OMIM:600287.0010
single nucleotide variant	NM_001540.5(HSPB1):c.404C>A (p.Ser135Tyr)	HSPB1	Pathogenic	7	75933158	75933158	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA367765473
single nucleotide variant	NM_002047.4(GARS1):c.1034A>G (p.Glu345Gly)	GARS1	Likely pathogenic	7	30655514	30655514	A	G	criteria provided, single submitter	ClinGen:CA367125926
single nucleotide variant	NM_006158.5(NEFL):c.1117C>T (p.Gln373Ter)	NEFL	Pathogenic	8	24811747	24811747	G	A	criteria provided, single submitter	ClinGen:CA370620879