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_000015.10:g.(?_44572673)_(44575051_?)del	SPG11	Pathogenic	15	44864871	44867249	na	na	criteria provided, single submitter	-
Duplication	NC_000017.10:g.(?_15134228)_(15164050_?)dup	PMP22	Pathogenic	17	15134228	15164050	na	na	criteria provided, single submitter	-
Deletion	NM_025137.4(SPG11):c.6826_6843+8del	SPG11	Likely pathogenic	15	44858407	44858432	TTGGGTTACCTTGGCATAACTCTCTGC	T	criteria provided, single submitter	-
single nucleotide variant	NM_025137.4(SPG11):c.4435-2A>G	SPG11	Pathogenic	15	44887659	44887659	T	C	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_15239461)_(15260737_?)del	PMP22	Pathogenic	17	15142778	15164054	na	na	criteria provided, single submitter	-
Duplication	NC_000017.10:g.(?_15142778)_(15164054_?)dup	PMP22	Pathogenic	17	15142778	15164054	na	na	criteria provided, single submitter	-
Duplication	NC_000017.10:g.(?_15133096)_(15165152_?)dup	PMP22	Pathogenic	17	15133096	15165152	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_71223168)_(71224569_?)del	GJB1	Pathogenic	X	70443018	70444419	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_024577.4(SH3TC2):c.2431C>T (p.Gln811Ter)	SH3TC2	Likely pathogenic	5	148406864	148406864	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001376.5(DYNC1H1):c.587T>G (p.Leu196Trp)	DYNC1H1	Likely pathogenic	14	102446124	102446124	T	G	criteria provided, single submitter	-