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_000263.4(NAGLU):c.383+1G>T	NAGLU	Pathogenic/Likely pathogenic	17	40688674	40688674	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA234307
single nucleotide variant	NM_001376.5(DYNC1H1):c.3603G>T (p.Arg1201Ser)	DYNC1H1	Likely pathogenic	14	102463410	102463410	G	T	criteria provided, single submitter	ClinGen:CA185910
single nucleotide variant	NM_007254.4(PNKP):c.1123G>T (p.Gly375Trp)	PNKP	Pathogenic	19	50365445	50365445	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA198504,UniProtKB:Q96T60#VAR_073369,OMIM:605610.0005
single nucleotide variant	NM_000530.8(MPZ):c.314C>T (p.Pro105Leu)	MPZ	Pathogenic/Likely pathogenic	1	161276632	161276632	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA334615
single nucleotide variant	NM_000530.8(MPZ):c.182A>G (p.Asp61Gly)	MPZ	Pathogenic/Likely pathogenic	1	161277100	161277100	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA334216,UniProtKB:P25189#VAR_031885
Deletion	NM_025137.3(SPG11):c.(?_-1)_3520+?del	SPG11	Likely pathogenic	15	44898223	44955846	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_025137.4(SPG11):c.2877C>A (p.Cys959Ter)	SPG11	Pathogenic	15	44907722	44907722	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA235929
single nucleotide variant	NM_000304.4(PMP22):c.308A>G (p.Gln103Arg)	PMP22	Pathogenic/Likely pathogenic	17	15142799	15142799	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA334032
single nucleotide variant	NM_000166.6(GJB1):c.116C>T (p.Ala39Val)	GJB1	Pathogenic	X	70443673	70443673	C	T	criteria provided, single submitter	ClinGen:CA334139,UniProtKB:P08034#VAR_002035
single nucleotide variant	NM_001605.3(AARS1):c.242A>C (p.Lys81Thr)	AARS1	Likely pathogenic	16	70310960	70310960	T	G	criteria provided, single submitter	ClinGen:CA199541,UniProtKB:P49588#VAR_073719,OMIM:601065.0003