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_000166.6(GJB1):c.602del (p.Cys201fs)	GJB1	Likely pathogenic	X	70444159	70444159	TG	T	criteria provided, single submitter	-
Deletion	NM_000166.6(GJB1):c.319del (p.Arg107fs)	GJB1	Pathogenic	X	70443876	70443876	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_000166.6(GJB1):c.392T>C (p.Leu131Pro)	GJB1	Likely pathogenic	X	70443949	70443949	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000166.6(GJB1):c.35G>A (p.Gly12Asp)	GJB1	Pathogenic	X	70443592	70443592	G	A	criteria provided, single submitter	-
Duplication	NM_000166.6(GJB1):c.524dup (p.Asn175fs)	GJB1	Pathogenic	X	70444079	70444080	C	CA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000166.6(GJB1):c.100A>G (p.Met34Val)	GJB1	Pathogenic	X	70443657	70443657	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000166.6(GJB1):c.540C>G (p.Phe180Leu)	GJB1	Pathogenic/Likely pathogenic	X	70444097	70444097	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000166.6(GJB1):c.529G>A (p.Val177Met)	GJB1	Likely pathogenic	X	70444086	70444086	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000166.6(GJB1):c.59T>C (p.Ile20Thr)	GJB1	Likely pathogenic	X	70443616	70443616	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000166.6(GJB1):c.491G>A (p.Arg164Gln)	GJB1	Pathogenic/Likely pathogenic	X	70444048	70444048	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA413502758