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_002180.3(IGHMBP2):c.388C>T (p.Arg130Ter)	IGHMBP2	Pathogenic/Likely pathogenic	11	68675744	68675744	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_024577.4(SH3TC2):c.1378C>T (p.Gln460Ter)	SH3TC2	Pathogenic/Likely pathogenic	5	148407917	148407917	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000530.8(MPZ):c.130_137del (p.Ser44fs)	MPZ	Pathogenic/Likely pathogenic	1	161277145	161277152	CACCCGGGA	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000530.8(MPZ):c.194C>A (p.Thr65Asn)	MPZ	Pathogenic/Likely pathogenic	1	161277088	161277088	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000530.8(MPZ):c.380G>A (p.Cys127Tyr)	MPZ	Pathogenic/Likely pathogenic	1	161276566	161276566	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000530.8(MPZ):c.435T>A (p.Tyr145Ter)	MPZ	Pathogenic/Likely pathogenic	1	161276511	161276511	A	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000530.8(MPZ):c.681A>T (p.Arg227Ser)	MPZ	Pathogenic/Likely pathogenic	1	161275732	161275732	T	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_014874.4(MFN2):c.692C>T (p.Ser231Phe)	MFN2	Pathogenic/Likely pathogenic	1	12058919	12058919	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_002972.4(SBF1):c.2154_2155del (p.Asp719fs)	SBF1	Pathogenic/Likely pathogenic	22	50900875	50900876	TCC	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001540.5(HSPB1):c.250G>A (p.Gly84Arg)	HSPB1	Pathogenic/Likely pathogenic	7	75932279	75932279	G	A	criteria provided, multiple submitters, no conflicts	-