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	NC_000023.11:g.(?_71223168)_(71224569_?)del	GJB1	Pathogenic	X	70443018	70444419	na	na	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	-
single nucleotide variant	NM_000166.6(GJB1):c.434T>G (p.Phe145Cys)	GJB1	Likely pathogenic	X	70443991	70443991	T	G	criteria provided, single submitter	-
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	-
Duplication	NM_000166.6(GJB1):c.99_103dup (p.Val35fs)	GJB1	Pathogenic	X	70443655	70443656	T	TCATGG	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000166.6(GJB1):c.772del (p.Ser258fs)	GJB1	Likely pathogenic	X	70444329	70444329	CT	C	criteria provided, single submitter	-
single nucleotide variant	NM_000166.6(GJB1):c.610C>G (p.Leu204Val)	GJB1	Pathogenic	X	70444167	70444167	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_000166.6(GJB1):c.593C>T (p.Ser198Phe)	GJB1	Likely pathogenic	X	70444150	70444150	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000166.6(GJB1):c.592T>G (p.Ser198Ala)	GJB1	Likely pathogenic	X	70444149	70444149	T	G	criteria provided, single submitter	-
Duplication	NM_000166.6(GJB1):c.556dup (p.Glu186fs)	GJB1	Pathogenic	X	70444112	70444113	C	CG	criteria provided, multiple submitters, no conflicts	-