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_000304.4(PMP22):c.420G>A (p.Trp140Ter)	PMP22	Pathogenic/Likely pathogenic	17	15134297	15134297	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000263.4(NAGLU):c.701G>A (p.Arg234His)	NAGLU	Likely pathogenic	17	40690710	40690710	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000263.4(NAGLU):c.1277G>A (p.Gly426Asp)	NAGLU	Pathogenic	17	40695301	40695301	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000263.4(NAGLU):c.1946G>A (p.Trp649Ter)	NAGLU	Likely pathogenic	17	40695970	40695970	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_181882.3(PRX):c.2689C>T (p.Arg897Ter)	PRX	Pathogenic	19	40901570	40901570	G	A	criteria provided, single submitter	-
Deletion	NM_181882.3(PRX):c.627del (p.Ala210fs)	PRX	Pathogenic	19	40903632	40903632	CG	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_181882.3(PRX):c.165_177dup (p.Gln60fs)	PRX	Pathogenic/Likely pathogenic	19	40909619	40909620	G	GCAGGCTGAGGCTC	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007254.4(PNKP):c.1203_1291del (p.Trp402fs)	PNKP	Pathogenic	19	50365036	50365124	CGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAG	C	criteria provided, single submitter	-
Deletion	NM_007254.4(PNKP):c.63del (p.Ile22fs)	PNKP	Pathogenic	19	50370399	50370399	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_001303256.3(MORC2):c.1220G>A (p.Cys407Tyr)	MORC2	Pathogenic	22	31333951	31333951	C	T	criteria provided, single submitter	-