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_007254.4(PNKP):c.1386+1G>A	PNKP	Pathogenic	19	50364864	50364864	C	T	criteria provided, single submitter	ClinGen:CA16607877
single nucleotide variant	NM_007254.4(PNKP):c.1207C>T (p.Gln403Ter)	PNKP	Pathogenic/Likely pathogenic	19	50365120	50365120	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA9586515
single nucleotide variant	NM_007254.4(PNKP):c.1315C>T (p.Arg439Ter)	PNKP	Pathogenic	19	50364936	50364936	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16608306
Deletion	NM_025137.4(SPG11):c.5175del (p.Ala1726fs)	SPG11	Pathogenic/Likely pathogenic	15	44876703	44876703	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609533
single nucleotide variant	NM_014874.4(MFN2):c.703C>T (p.Gln235Ter)	MFN2	Pathogenic	1	12058930	12058930	C	T	criteria provided, single submitter	ClinGen:CA16609866
single nucleotide variant	NM_014874.4(MFN2):c.2220G>T (p.Trp740Cys)	MFN2	Likely pathogenic	1	12071568	12071568	G	T	criteria provided, single submitter	ClinGen:CA16609875
single nucleotide variant	NM_014874.4(MFN2):c.283A>G (p.Arg95Gly)	MFN2	Pathogenic/Likely pathogenic	1	12052719	12052719	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609877
Deletion	NM_014874.4(MFN2):c.674_680del (p.Leu225fs)	MFN2	Pathogenic	1	12058899	12058905	TGCTGGTG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609878
single nucleotide variant	NM_170707.4(LMNA):c.122G>A (p.Arg41His)	LMNA	Pathogenic	1	156084831	156084831	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609885
single nucleotide variant	NM_170707.4(LMNA):c.1118T>G (p.Ile373Ser)	LMNA	Likely pathogenic	1	156105873	156105873	T	G	criteria provided, single submitter	ClinGen:CA16609888