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_170707.4(LMNA):c.1228C>T (p.Gln410Ter)	LMNA	Pathogenic/Likely pathogenic	1	156106075	156106075	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602394
Indel	NM_170707.4(LMNA):c.354_355delinsAG (p.Arg119Gly)	LMNA	Likely pathogenic	1	156085063	156085064	GC	AG	criteria provided, single submitter	ClinGen:CA351885
single nucleotide variant	NM_001376.5(DYNC1H1):c.10573C>T (p.Arg3525Cys)	DYNC1H1	Pathogenic	14	102500472	102500472	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA353448
single nucleotide variant	NM_170707.4(LMNA):c.82C>G (p.Arg28Gly)	LMNA	Likely pathogenic	1	156084791	156084791	C	G	criteria provided, single submitter	ClinGen:CA358140
single nucleotide variant	NM_030962.4(SBF2):c.3857T>C (p.Val1286Ala)	SBF2	Likely pathogenic	11	9838508	9838508	A	G	criteria provided, single submitter	ClinGen:CA358114
single nucleotide variant	NM_005548.3(KARS1):c.599C>T (p.Pro200Leu)	KARS1	Pathogenic/Likely pathogenic	16	75669880	75669880	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA358202,OMIM:601421.0009
single nucleotide variant	NM_005548.3(KARS1):c.22G>T (p.Glu8Ter)	KARS1	Likely pathogenic	16	75681516	75681516	C	A	criteria provided, single submitter	ClinGen:CA358069
Deletion	NM_025137.4(SPG11):c.2790del (p.Cys931fs)	SPG11	Likely pathogenic	15	44912432	44912432	AG	A	criteria provided, single submitter	ClinGen:CA645294078
Deletion	NM_021076.4(NEFH):c.3010_3011del (p.Asp1004fs)	NEFH	Pathogenic	22	29886638	29886639	AAG	A	criteria provided, single submitter	ClinGen:CA10576036,OMIM:162230.0002
single nucleotide variant	NM_170707.4(LMNA):c.356+1G>C	LMNA	Pathogenic/Likely pathogenic	1	156085066	156085066	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576364