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_170707.4(LMNA):c.978_979del (p.Leu327fs)	LMNA	Pathogenic	1	156105732	156105733	TCA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA018921
single nucleotide variant	NM_170707.4(LMNA):c.1057C>T (p.Gln353Ter)	LMNA	Pathogenic	1	156105812	156105812	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016519
single nucleotide variant	NM_170707.4(LMNA):c.1401G>A (p.Trp467Ter)	LMNA	Pathogenic	1	156106732	156106732	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017193
single nucleotide variant	NM_170707.4(LMNA):c.1560G>A (p.Trp520Ter)	LMNA	Pathogenic	1	156106975	156106975	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017446
single nucleotide variant	NM_170707.4(LMNA):c.1562G>T (p.Gly521Val)	LMNA	Likely pathogenic	1	156106977	156106977	G	T	criteria provided, single submitter	ClinGen:CA017452
single nucleotide variant	NM_014874.4(MFN2):c.746C>T (p.Ser249Phe)	MFN2	Pathogenic/Likely pathogenic	1	12059082	12059082	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA275457
single nucleotide variant	NM_001005373.4(LRSAM1):c.1913-1G>A	LRSAM1	Pathogenic	9	130263288	130263288	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA347303
single nucleotide variant	NM_002180.3(IGHMBP2):c.449+1G>T	IGHMBP2	Pathogenic/Likely pathogenic	11	68675806	68675806	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA347307,OMIM:600502.0015
single nucleotide variant	NM_002180.3(IGHMBP2):c.2784+1G>T	IGHMBP2	Pathogenic	11	68705823	68705823	G	T	criteria provided, single submitter	ClinGen:CA347308
single nucleotide variant	NM_000263.4(NAGLU):c.1208T>C (p.Ile403Thr)	NAGLU	Likely pathogenic	17	40695232	40695232	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA250326,UniProtKB:P54802#VAR_074607,OMIM:609701.0015