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
Duplication	NM_003172.4(SURF1):c.794_795dup (p.Thr266fs)	SURF1	Likely pathogenic	9	136218953	136218954	T	TAA	criteria provided, single submitter	-
single nucleotide variant	NM_014845.6(FIG4):c.290-2A>G	FIG4	Pathogenic	6	110048310	110048310	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_014874.4(MFN2):c.262A>T (p.Ile88Phe)	MFN2	Pathogenic	1	12052698	12052698	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_014874.4(MFN2):c.495T>G (p.His165Gln)	MFN2	Likely pathogenic	1	12057374	12057374	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_014874.4(MFN2):c.656A>G (p.Asp219Gly)	MFN2	Likely pathogenic	1	12058883	12058883	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_014874.4(MFN2):c.1292C>A (p.Ser431Ter)	MFN2	Pathogenic	1	12064570	12064570	C	A	criteria provided, single submitter	-
Deletion	NM_014874.4(MFN2):c.1612del (p.Gln538fs)	MFN2	Pathogenic	1	12065883	12065883	TC	T	criteria provided, single submitter	-
Deletion	NM_014874.4(MFN2):c.2092del (p.His698fs)	MFN2	Pathogenic	1	12069671	12069671	TC	T	criteria provided, single submitter	-
Duplication	NM_170707.4(LMNA):c.11dup (p.Ser5fs)	LMNA	Pathogenic	1	156084716	156084717	A	AC	criteria provided, single submitter	-
single nucleotide variant	NM_170707.4(LMNA):c.94A>T (p.Lys32Ter)	LMNA	Pathogenic	1	156084803	156084803	A	T	criteria provided, single submitter	-