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
single nucleotide variant	NM_000166.6(GJB1):c.514C>G (p.Pro172Ala)	GJB1	Likely pathogenic	X	70444071	70444071	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_000166.6(GJB1):c.518G>T (p.Cys173Phe)	GJB1	Pathogenic	X	70444075	70444075	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000166.6(GJB1):c.538T>C (p.Phe180Leu)	GJB1	Likely pathogenic	X	70444095	70444095	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000166.6(GJB1):c.541G>C (p.Val181Leu)	GJB1	Likely pathogenic	X	70444098	70444098	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_000166.6(GJB1):c.548G>C (p.Arg183Pro)	GJB1	Likely pathogenic	X	70444105	70444105	G	C	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	-
single nucleotide variant	NM_000166.6(GJB1):c.592T>G (p.Ser198Ala)	GJB1	Likely pathogenic	X	70444149	70444149	T	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.610C>G (p.Leu204Val)	GJB1	Pathogenic	X	70444167	70444167	C	G	criteria provided, single submitter	-
Deletion	NM_000166.6(GJB1):c.772del (p.Ser258fs)	GJB1	Likely pathogenic	X	70444329	70444329	CT	C	criteria provided, single submitter	-