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
Deletion	NC_000007.14:g.(?_76303802)_(76304173_?)del	HSPB1	Pathogenic	7	75933119	75933490	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_030962.4(SBF2):c.4443+1G>A	SBF2	Pathogenic	11	9829546	9829546	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_030962.4(SBF2):c.1297-2A>G	SBF2	Likely pathogenic	11	10011144	10011144	T	C	criteria provided, single submitter	-
Deletion	NM_001370298.3(FGD4):c.1402del (p.Gln468fs)	FGD4	Pathogenic/Likely pathogenic	12	32755249	32755249	TC	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002180.3(IGHMBP2):c.826C>T (p.Gln276Ter)	IGHMBP2	Pathogenic	11	68682405	68682405	C	T	criteria provided, single submitter	-
Duplication	NM_002180.3(IGHMBP2):c.1313dup (p.Thr439fs)	IGHMBP2	Pathogenic/Likely pathogenic	11	68700843	68700844	C	CT	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_016156.6(MTMR2):c.804+1G>C	MTMR2	Likely pathogenic	11	95583763	95583763	C	G	criteria provided, single submitter	-
Deletion	NM_001005373.4(LRSAM1):c.1694del (p.Leu565fs)	LRSAM1	Pathogenic	9	130257693	130257693	CT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000263.4(NAGLU):c.214_237del (p.Ala72_Gly79del)	NAGLU	Pathogenic	17	40688499	40688522	GGCGGCGCGGCGCGCGTGCGGGTGC	G	criteria provided, single submitter	-
Deletion	NC_000015.10:g.(?_44572663)_(44575061_?)del	SPG11	Pathogenic	15	44864861	44867259	na	na	criteria provided, single submitter	-