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_024577.4(SH3TC2):c.2072_2090del (p.Ala691fs)	SH3TC2	Pathogenic	5	148407205	148407223	ACCATGTTGCTGGACAGAGG	A	criteria provided, single submitter	ClinGen:CA10582409
single nucleotide variant	NM_001005373.4(LRSAM1):c.1279C>T (p.Arg427Ter)	LRSAM1	Pathogenic/Likely pathogenic	9	130249974	130249974	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582612
single nucleotide variant	NM_016156.6(MTMR2):c.832C>T (p.Gln278Ter)	MTMR2	Pathogenic	11	95582999	95582999	G	A	criteria provided, single submitter	ClinGen:CA10582955
Duplication	NM_025137.4(SPG11):c.1348dup (p.Ile450fs)	SPG11	Pathogenic	15	44943796	44943797	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA7535571
Deletion	NM_000304.3(PMP22):c.-34-?_*1140del	PMP22	Pathogenic	17	15133094	15164078	na	na	criteria provided, single submitter	-
Duplication	NM_000304.3(PMP22):c.-34-?_*1140dup1657	PMP22	Pathogenic	17	15133094	15164078	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000166.6(GJB1):c.208C>G (p.Pro70Ala)	GJB1	Pathogenic/Likely pathogenic	X	70443765	70443765	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583953,UniProtKB:P08034#VAR_029914
single nucleotide variant	NM_007289.4(MME):c.1861T>C (p.Cys621Arg)	MME	Likely pathogenic	3	154886361	154886361	T	C	criteria provided, single submitter	ClinGen:CA10584007,OMIM:120520.0003
single nucleotide variant	NM_001005373.4(LRSAM1):c.2068T>C (p.Cys690Arg)	LRSAM1	Pathogenic/Likely pathogenic	9	130265074	130265074	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584021
single nucleotide variant	NM_014874.4(MFN2):c.730G>T (p.Val244Leu)	MFN2	Pathogenic	1	12059066	12059066	G	T	criteria provided, single submitter	ClinGen:CA10584070