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.1932C>G (p.Tyr644Ter)	NAGLU	Likely pathogenic	17	40695956	40695956	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_000263.4(NAGLU):c.2062C>T (p.Gln688Ter)	NAGLU	Likely pathogenic	17	40696086	40696086	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000263.4(NAGLU):c.4G>T (p.Glu2Ter)	NAGLU	Pathogenic/Likely pathogenic	17	40688294	40688294	G	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000263.4(NAGLU):c.82del (p.Glu28fs)	NAGLU	Likely pathogenic	17	40688370	40688370	CG	C	criteria provided, single submitter	-
single nucleotide variant	NM_000263.4(NAGLU):c.343C>T (p.Pro115Ser)	NAGLU	Likely pathogenic	17	40688633	40688633	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000263.4(NAGLU):c.384-1G>A	NAGLU	Pathogenic/Likely pathogenic	17	40689415	40689415	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000263.4(NAGLU):c.798_805del (p.Ser267fs)	NAGLU	Likely pathogenic	17	40692997	40693004	ATGGGCAGT	A	criteria provided, single submitter	-
Deletion	NM_000263.4(NAGLU):c.1112del (p.Gly371fs)	NAGLU	Likely pathogenic	17	40695134	40695134	TG	T	criteria provided, single submitter	-
Deletion	NM_000263.4(NAGLU):c.1200del (p.Gln400fs)	NAGLU	Pathogenic/Likely pathogenic	17	40695224	40695224	AG	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000263.4(NAGLU):c.1390C>T (p.Arg464Ter)	NAGLU	Pathogenic/Likely pathogenic	17	40695414	40695414	C	T	criteria provided, multiple submitters, no conflicts	-