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_000304.4(PMP22):c.214T>C (p.Ser72Pro)	PMP22	Pathogenic	17	15142893	15142893	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_001005361.3(DNM2):c.1739T>C (p.Met580Thr)	DNM2	Pathogenic	19	10930723	10930723	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_181882.3(PRX):c.1864C>T (p.Gln622Ter)	PRX	Pathogenic/Likely pathogenic	19	40902395	40902395	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_181882.3(PRX):c.1090C>T (p.Arg364Ter)	PRX	Pathogenic	19	40903169	40903169	G	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_181882.3(PRX):c.773_774dup (p.Ser259fs)	PRX	Pathogenic	19	40903484	40903485	A	AGG	criteria provided, single submitter	-
Duplication	NM_181882.3(PRX):c.642dup (p.Arg215fs)	PRX	Pathogenic	19	40903616	40903617	T	TG	criteria provided, single submitter	-
single nucleotide variant	NM_181882.3(PRX):c.589G>T (p.Glu197Ter)	PRX	Pathogenic	19	40903670	40903670	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000166.6(GJB1):c.47A>T (p.His16Leu)	GJB1	Pathogenic	X	70443604	70443604	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_000166.6(GJB1):c.68T>C (p.Val23Ala)	GJB1	Pathogenic	X	70443625	70443625	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000166.6(GJB1):c.89T>C (p.Ile30Thr)	GJB1	Pathogenic	X	70443646	70443646	T	C	criteria provided, single submitter	-