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_024577.4(SH3TC2):c.2418T>G (p.Tyr806Ter)	SH3TC2	Pathogenic	5	148406877	148406877	A	C	criteria provided, single submitter	-
Deletion	NM_024577.4(SH3TC2):c.1520_1523del (p.Phe507fs)	SH3TC2	Pathogenic	5	148407772	148407775	CACAA	C	criteria provided, single submitter	-
single nucleotide variant	NM_024577.4(SH3TC2):c.929G>A (p.Gly310Glu)	SH3TC2	Pathogenic	5	148417930	148417930	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_001540.5(HSPB1):c.20C>G (p.Pro7Arg)	HSPB1	Likely pathogenic	7	75932049	75932049	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_001540.5(HSPB1):c.403T>G (p.Ser135Ala)	HSPB1	Likely pathogenic	7	75933157	75933157	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_024577.4(SH3TC2):c.2146C>T (p.Gln716Ter)	SH3TC2	Pathogenic	5	148407149	148407149	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_024577.4(SH3TC2):c.280-2A>G	SH3TC2	Likely pathogenic	5	148424203	148424203	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_018972.4(GDAP1):c.845G>A (p.Arg282His)	GDAP1	Pathogenic	8	75276370	75276370	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_018706.7(DHTKD1):c.748del (p.Glu250fs)	DHTKD1	Pathogenic	10	12131015	12131015	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_000399.5(EGR2):c.1066G>A (p.Glu356Lys)	EGR2	Pathogenic/Likely pathogenic	10	64573332	64573332	C	T	criteria provided, multiple submitters, no conflicts	-