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_025137.4(SPG11):c.5465_5477del (p.Phe1822fs)	SPG11	Pathogenic	15	44876401	44876413	GATCTGTCGAGAAA	G	criteria provided, single submitter	-
single nucleotide variant	NM_025137.4(SPG11):c.4365G>A (p.Trp1455Ter)	SPG11	Pathogenic	15	44888350	44888350	C	T	criteria provided, single submitter	-
Deletion	NM_025137.4(SPG11):c.276_285del (p.Arg93fs)	SPG11	Pathogenic	15	44952787	44952796	TGCTGTTACGA	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_018706.7(DHTKD1):c.2134C>T (p.Arg712Ter)	DHTKD1	Pathogenic	10	12149994	12149994	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NC_000017.10:g.(?_15162411)_(15406546_?)dup	PMP22	Pathogenic	17	15162411	15406546	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_181882.3(PRX):c.231C>G (p.Tyr77Ter)	PRX	Pathogenic	19	40904677	40904677	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002180.3(IGHMBP2):c.1156T>C (p.Trp386Arg)	IGHMBP2	Pathogenic/Likely pathogenic	11	68696746	68696746	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002180.3(IGHMBP2):c.1516G>T (p.Glu506Ter)	IGHMBP2	Pathogenic	11	68701360	68701360	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_002180.3(IGHMBP2):c.1633-2A>G	IGHMBP2	Likely pathogenic	11	68702765	68702765	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_002180.3(IGHMBP2):c.2575C>T (p.Gln859Ter)	IGHMBP2	Pathogenic	11	68704523	68704523	C	T	criteria provided, single submitter	-