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_000263.4(NAGLU):c.367G>T (p.Glu123Ter)	NAGLU	Pathogenic	17	40688657	40688657	G	T	criteria provided, single submitter	ClinGen:CA248375,OMIM:609701.0016
single nucleotide variant	NM_007254.4(PNKP):c.1545C>G (p.Tyr515Ter)	PNKP	Likely pathogenic	19	50364526	50364526	G	C	criteria provided, single submitter	ClinGen:CA316517
Duplication	NM_007254.4(PNKP):c.1317_1321dup (p.Ala441fs)	PNKP	Pathogenic/Likely pathogenic	19	50364929	50364930	G	GCGGCT	criteria provided, multiple submitters, no conflicts	ClinGen:CA251238
Duplication	NM_007254.4(PNKP):c.1293_1298+2dup	PNKP	Pathogenic	19	50365026	50365027	T	TACCTGGCG	criteria provided, single submitter	ClinGen:CA316528
Duplication	NM_007254.4(PNKP):c.1288_1294dup (p.Ala432fs)	PNKP	Pathogenic	19	50365032	50365033	G	GCGCGGCT	criteria provided, multiple submitters, no conflicts	ClinGen:CA316527
single nucleotide variant	NM_007254.4(PNKP):c.1189-2A>C	PNKP	Pathogenic	19	50365140	50365140	T	G	criteria provided, single submitter	ClinGen:CA316490
Duplication	NM_007254.4(PNKP):c.1126+3_1126+4dup	PNKP	Likely pathogenic	19	50365437	50365438	C	CTT	criteria provided, single submitter	ClinGen:CA316526
single nucleotide variant	NM_007254.4(PNKP):c.992G>A (p.Trp331Ter)	PNKP	Pathogenic	19	50365665	50365665	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA316476
single nucleotide variant	NM_007254.4(PNKP):c.610C>T (p.Arg204Ter)	PNKP	Pathogenic/Likely pathogenic	19	50367462	50367462	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA316456
Duplication	NM_007254.4(PNKP):c.603dup (p.Lys202Ter)	PNKP	Pathogenic/Likely pathogenic	19	50367468	50367469	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA316525