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_000263.4(NAGLU):c.2T>C (p.Met1Thr)	NAGLU	Likely pathogenic	17	40688292	40688292	T	C	criteria provided, single submitter	-
Duplication	NM_000263.4(NAGLU):c.220dup (p.Arg74fs)	NAGLU	Pathogenic/Likely pathogenic	17	40688509	40688510	G	GC	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000263.4(NAGLU):c.219_237del (p.Arg74fs)	NAGLU	Pathogenic/Likely pathogenic	17	40688502	40688520	GGCGCGGCGCGCGTGCGGGT	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000263.4(NAGLU):c.867del (p.Ile290fs)	NAGLU	Likely pathogenic	17	40693067	40693067	TC	T	criteria provided, single submitter	-
single nucleotide variant	NM_000263.4(NAGLU):c.1705C>T (p.Gln569Ter)	NAGLU	Pathogenic/Likely pathogenic	17	40695729	40695729	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000263.4(NAGLU):c.1421G>A (p.Trp474Ter)	NAGLU	Likely pathogenic	17	40695445	40695445	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000263.4(NAGLU):c.1863G>A (p.Trp621Ter)	NAGLU	Pathogenic/Likely pathogenic	17	40695887	40695887	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000263.4(NAGLU):c.1995del (p.Leu666fs)	NAGLU	Likely pathogenic	17	40696016	40696016	CG	C	criteria provided, single submitter	-
single nucleotide variant	NM_000263.4(NAGLU):c.1708G>T (p.Glu570Ter)	NAGLU	Likely pathogenic	17	40695732	40695732	G	T	criteria provided, single submitter	-
Deletion	NM_000263.4(NAGLU):c.2053_2054del (p.Ser685fs)	NAGLU	Likely pathogenic	17	40696077	40696078	CAG	C	criteria provided, single submitter	-