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
Indel	NM_025137.4(SPG11):c.2912_2914delinsGAT (p.Ile971_Gln972delinsArgTer)	SPG11	Pathogenic	15	44907685	44907687	GTA	ATC	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798324
single nucleotide variant	NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly)	NAGLU	Pathogenic	17	40695858	40695858	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA8577104
single nucleotide variant	NM_000263.4(NAGLU):c.1915G>T (p.Glu639Ter)	NAGLU	Pathogenic/Likely pathogenic	17	40695939	40695939	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA399605457
single nucleotide variant	NM_014874.4(MFN2):c.1426C>G (p.Arg476Gly)	MFN2	Likely pathogenic	1	12064915	12064915	C	G	criteria provided, single submitter	ClinGen:CA338446686
single nucleotide variant	NM_170707.4(LMNA):c.59C>T (p.Pro20Leu)	LMNA	Likely pathogenic	1	156084768	156084768	C	T	criteria provided, single submitter	ClinGen:CA342807133
single nucleotide variant	NM_022489.4(INF2):c.658G>A (p.Glu220Lys)	INF2	Pathogenic/Likely pathogenic	14	105169782	105169782	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA391213465
single nucleotide variant	NM_002180.3(IGHMBP2):c.1418+1G>C	IGHMBP2	Likely pathogenic	11	68700950	68700950	G	C	criteria provided, single submitter	-
Inversion	NM_014845.6(FIG4):c.1239_1241inv (p.Tyr413_Ile414delinsTer)	FIG4	Pathogenic/Likely pathogenic	6	110081554	110081556	TAT	ATA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658796800
Duplication	NM_003172.4(SURF1):c.796dup (p.Thr266fs)	SURF1	Likely pathogenic	9	136218952	136218953	G	GT	criteria provided, single submitter	ClinGen:CA658797339
single nucleotide variant	NM_018706.7(DHTKD1):c.1386T>G (p.Tyr462Ter)	DHTKD1	Likely pathogenic	10	12139710	12139710	T	G	criteria provided, single submitter	ClinGen:CA376020573