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	NM_007254.4(PNKP):c.143del (p.Arg48fs)	PNKP	Pathogenic	19	50370319	50370319	TC	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000166.6(GJB1):c.100A>G (p.Met34Val)	GJB1	Pathogenic	X	70443657	70443657	A	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NC_000017.10:g.(?_14139889)_(15406546_?)dup	PMP22	Pathogenic	17	14139889	15406546	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000263.4(NAGLU):c.1973A>G (p.Tyr658Cys)	NAGLU	Pathogenic	17	40695997	40695997	A	G	criteria provided, single submitter	-
Duplication	NM_000166.6(GJB1):c.524dup (p.Asn175fs)	GJB1	Pathogenic	X	70444079	70444080	C	CA	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_181882.3(PRX):c.353del (p.Lys118fs)	PRX	Pathogenic	19	40904555	40904555	CT	C	criteria provided, single submitter	-
single nucleotide variant	NM_000166.6(GJB1):c.35G>A (p.Gly12Asp)	GJB1	Pathogenic	X	70443592	70443592	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000166.6(GJB1):c.392T>C (p.Leu131Pro)	GJB1	Likely pathogenic	X	70443949	70443949	T	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_014365.3(HSPB8):c.520_533del (p.Tyr174fs)	HSPB8	Likely pathogenic	12	119631592	119631605	TTACTCAACATTTGG	T	criteria provided, single submitter	-
single nucleotide variant	NM_000530.8(MPZ):c.303G>A (p.Trp101Ter)	MPZ	Pathogenic	1	161276643	161276643	C	T	criteria provided, multiple submitters, no conflicts	-