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_000263.4(NAGLU):c.1811C>T (p.Pro604Leu)	NAGLU	Pathogenic/Likely pathogenic	17	40695835	40695835	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000263.4(NAGLU):c.13_16del (p.Ala5fs)	NAGLU	Likely pathogenic	17	40688302	40688305	TGGCG	T	criteria provided, single submitter	-
Deletion	NM_000263.4(NAGLU):c.193del (p.Tyr65fs)	NAGLU	Likely pathogenic	17	40688483	40688483	CT	C	criteria provided, single submitter	-
single nucleotide variant	NM_000263.4(NAGLU):c.358G>T (p.Glu120Ter)	NAGLU	Pathogenic	17	40688648	40688648	G	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000263.4(NAGLU):c.809del (p.His270fs)	NAGLU	Likely pathogenic	17	40693012	40693012	CA	C	criteria provided, single submitter	-
Deletion	NM_000263.4(NAGLU):c.1063del (p.Gln355fs)	NAGLU	Pathogenic/Likely pathogenic	17	40695086	40695086	TC	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000263.4(NAGLU):c.1093C>T (p.Gln365Ter)	NAGLU	Pathogenic/Likely pathogenic	17	40695117	40695117	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000263.4(NAGLU):c.1211G>A (p.Trp404Ter)	NAGLU	Pathogenic	17	40695235	40695235	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000263.4(NAGLU):c.1241A>G (p.His414Arg)	NAGLU	Pathogenic/Likely pathogenic	17	40695265	40695265	A	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000263.4(NAGLU):c.1438_1447del (p.Ala480fs)	NAGLU	Likely pathogenic	17	40695462	40695471	CGCCCGGCGGT	C	criteria provided, single submitter	-