シャルコー・マリー・トゥース病

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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_016156.6(MTMR2):c.1593+1G>A	MTMR2	Pathogenic	11	95571257	95571257	C	T	criteria provided, single submitter	OMIM:603557.0002
single nucleotide variant	NM_014874.4(MFN2):c.475-1G>C	MFN2	Pathogenic	1	12057353	12057353	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_014845.6(FIG4):c.877-2A>C	FIG4	Pathogenic/Likely pathogenic	6	110064311	110064311	A	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_018972.4(GDAP1):c.311-1G>A	GDAP1	Pathogenic/Likely pathogenic	8	75272371	75272371	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002180.3(IGHMBP2):c.711+1G>C	IGHMBP2	Pathogenic	11	68679072	68679072	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_002180.3(IGHMBP2):c.1060+1G>T	IGHMBP2	Likely pathogenic	11	68685352	68685352	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000304.4(PMP22):c.319+1G>A	PMP22	Pathogenic	17	15142787	15142787	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000304.4(PMP22):c.179-2A>G	PMP22	Pathogenic	17	15142930	15142930	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000304.4(PMP22):c.79-2A>G	PMP22	Pathogenic	17	15162512	15162512	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000263.4(NAGLU):c.230T>G (p.Val77Gly)	NAGLU	Likely pathogenic	17	40688520	40688520	T	G	criteria provided, multiple submitters, no conflicts	-