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_000263.4(NAGLU):c.1425del (p.Thr476fs)	NAGLU	Pathogenic/Likely pathogenic	17	40695449	40695449	TG	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000263.4(NAGLU):c.1447dup (p.Tyr483fs)	NAGLU	Pathogenic/Likely pathogenic	17	40695470	40695471	G	GT	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000263.4(NAGLU):c.1463dup (p.Asp489fs)	NAGLU	Likely pathogenic	17	40695484	40695485	A	AC	criteria provided, single submitter	-
single nucleotide variant	NM_000263.4(NAGLU):c.1558C>T (p.Arg520Trp)	NAGLU	Likely pathogenic	17	40695582	40695582	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000263.4(NAGLU):c.1674C>G (p.Tyr558Ter)	NAGLU	Likely pathogenic	17	40695698	40695698	C	G	criteria provided, single submitter	-
Deletion	NM_000263.4(NAGLU):c.1893_1903del (p.Glu632fs)	NAGLU	Likely pathogenic	17	40695916	40695926	AGTGAGGCCGAG	A	criteria provided, single submitter	-
single nucleotide variant	NM_000263.4(NAGLU):c.2020C>T (p.Arg674Cys)	NAGLU	Pathogenic/Likely pathogenic	17	40696044	40696044	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_170707.4(LMNA):c.1116G>C (p.Glu372Asp)	LMNA	Pathogenic/Likely pathogenic	1	156105871	156105871	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001376.5(DYNC1H1):c.6490G>A (p.Val2164Met)	DYNC1H1	Likely pathogenic	14	102477161	102477161	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_014365.3(HSPB8):c.413A>C (p.Asn138Thr)	HSPB8	Likely pathogenic	12	119624875	119624875	A	C	criteria provided, single submitter	-