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_001303256.3(MORC2):c.395G>T (p.Arg132Leu)	MORC2	Pathogenic	22	31342359	31342359	C	A	criteria provided, single submitter	-
Duplication	NM_000166.6(GJB1):c.99_103dup (p.Val35fs)	GJB1	Pathogenic	X	70443655	70443656	T	TCATGG	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000166.6(GJB1):c.265C>G (p.Leu89Val)	GJB1	Pathogenic/Likely pathogenic	X	70443822	70443822	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000166.6(GJB1):c.434T>G (p.Phe145Cys)	GJB1	Likely pathogenic	X	70443991	70443991	T	G	criteria provided, single submitter	-
Deletion	NM_000166.6(GJB1):c.807_808del (p.Ala271fs)	GJB1	Pathogenic/Likely pathogenic	X	70444364	70444365	CCG	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000001.11:g.(?_156114919)_(156243162_?)del	LMNA	Pathogenic	1	156084710	156212953	na	na	criteria provided, single submitter	-
Deletion	NC_000001.11:g.(?_156134393)_(156134538_?)del	LMNA	Likely pathogenic	1	156104184	156104329	na	na	criteria provided, single submitter	-
Deletion	NC_000001.11:g.(?_156114909)_(156115284_?)del	LMNA	Pathogenic	1	156084700	156085075	na	na	criteria provided, single submitter	-
Deletion	NC_000001.11:g.(?_156134393)_(156139116_?)del	LMNA	Pathogenic	1	156104184	156108907	na	na	criteria provided, single submitter	-
Deletion	NC_000001.11:g.(?_156134383)_(156134548_?)del	LMNA	Likely pathogenic	1	156104174	156104339	na	na	criteria provided, single submitter	-