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_007254.4(PNKP):c.1221_1223del (p.Thr408del)	PNKP	Pathogenic/Likely pathogenic	19	50365104	50365106	CGTG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA199622,OMIM:605610.0007
single nucleotide variant	NM_006158.5(NEFL):c.1261C>T (p.Arg421Ter)	NEFL	Pathogenic	8	24811218	24811218	G	A	criteria provided, single submitter	ClinGen:CA274856,OMIM:162280.0009
Deletion	NM_170707.4(LMNA):c.48del (p.Ser17fs)	LMNA	Pathogenic	1	156084756	156084756	GC	G	criteria provided, single submitter	ClinGen:CA018155
single nucleotide variant	NM_014874.4(MFN2):c.1148C>T (p.Ala383Val)	MFN2	Pathogenic	1	12062148	12062148	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA239603
single nucleotide variant	NM_000166.6(GJB1):c.271G>A (p.Val91Met)	GJB1	Pathogenic/Likely pathogenic	X	70443828	70443828	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA275057,UniProtKB:P08034#VAR_029916
Duplication	NM_000263.4(NAGLU):c.944dup (p.Asn315fs)	NAGLU	Pathogenic	17	40693145	40693146	C	CA	criteria provided, single submitter	ClinGen:CA202998
Insertion	NM_170707.4(LMNA):c.886_887insA (p.Arg296fs)	LMNA	Pathogenic	1	156105053	156105054	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA275309
single nucleotide variant	NM_170707.4(LMNA):c.3G>T (p.Met1Ile)	LMNA	Pathogenic/Likely pathogenic	1	156084712	156084712	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA018051
single nucleotide variant	NM_170707.4(LMNA):c.64T>G (p.Ser22Ala)	LMNA	Likely pathogenic	1	156084773	156084773	T	G	criteria provided, single submitter	ClinGen:CA018394
single nucleotide variant	NM_170707.4(LMNA):c.179G>C (p.Arg60Pro)	LMNA	Likely pathogenic	1	156084888	156084888	G	C	criteria provided, single submitter	ClinGen:CA017735