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_025137.4(SPG11):c.5623C>T (p.Gln1875Ter)	SPG11	Pathogenic	15	44876255	44876255	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA339870,OMIM:610844.0008
Duplication	NM_025137.4(SPG11):c.3075dup (p.Glu1026fs)	SPG11	Pathogenic	15	44905697	44905698	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA339872,OMIM:610844.0009
single nucleotide variant	NM_000263.4(NAGLU):c.2021G>A (p.Arg674His)	NAGLU	Pathogenic/Likely pathogenic	17	40696045	40696045	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA115042,UniProtKB:P54802#VAR_005014,OMIM:609701.0001
single nucleotide variant	NM_000263.4(NAGLU):c.1876C>T (p.Arg626Ter)	NAGLU	Pathogenic	17	40695900	40695900	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA115043,OMIM:609701.0002
single nucleotide variant	NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter)	NAGLU	Pathogenic/Likely pathogenic	17	40693092	40693092	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA115045,OMIM:609701.0003
Deletion	NM_000263.4(NAGLU):c.507_516del (p.Ser169fs)	NAGLU	Pathogenic	17	40689535	40689544	TGGAGCGGCCA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA115047,OMIM:609701.0005
single nucleotide variant	NM_000263.4(NAGLU):c.1927C>T (p.Arg643Cys)	NAGLU	Pathogenic	17	40695951	40695951	C	T	criteria provided, multiple submitters, no conflicts	UniProtKB:P54802#VAR_025494,OMIM:609701.0006,ClinGen:CA115048
single nucleotide variant	NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu)	NAGLU	Pathogenic/Likely pathogenic	17	40695586	40695586	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA115049,UniProtKB:P54802#VAR_025491,OMIM:609701.0007
single nucleotide variant	NM_000263.4(NAGLU):c.1693C>T (p.Arg565Trp)	NAGLU	Pathogenic	17	40695717	40695717	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA115050,UniProtKB:P54802#VAR_025493,OMIM:609701.0008
single nucleotide variant	NM_000263.4(NAGLU):c.1694G>C (p.Arg565Pro)	NAGLU	Pathogenic/Likely pathogenic	17	40695718	40695718	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA115051,UniProtKB:P54802#VAR_025492,OMIM:609701.0009