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.548G>C (p.Arg183Pro)	GJB1	Likely pathogenic	X	70444105	70444105	G	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.538T>C (p.Phe180Leu)	GJB1	Likely pathogenic	X	70444095	70444095	T	C	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.514C>G (p.Pro172Ala)	GJB1	Likely pathogenic	X	70444071	70444071	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_000166.6(GJB1):c.479A>G (p.Tyr160Cys)	GJB1	Likely pathogenic	X	70444036	70444036	A	G	criteria provided, single submitter	-
Deletion	NM_000166.6(GJB1):c.454del (p.Val152fs)	GJB1	Pathogenic	X	70444011	70444011	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_000166.6(GJB1):c.445T>A (p.Phe149Ile)	GJB1	Likely pathogenic	X	70444002	70444002	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_000166.6(GJB1):c.381C>G (p.Ile127Met)	GJB1	Pathogenic	X	70443938	70443938	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_000166.6(GJB1):c.300C>G (p.His100Gln)	GJB1	Likely pathogenic	X	70443857	70443857	C	G	criteria provided, single submitter	-