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_000166.6(GJB1):c.502T>G (p.Cys168Gly)	GJB1	Likely pathogenic	X	70444059	70444059	T	G	criteria provided, single submitter	ClinGen:CA16043600
single nucleotide variant	NM_002972.4(SBF1):c.3492-1G>T	SBF1	Likely pathogenic	22	50898096	50898096	C	A	criteria provided, single submitter	ClinGen:CA16043753
single nucleotide variant	NM_024577.4(SH3TC2):c.2642A>G (p.Asn881Ser)	SH3TC2	Pathogenic/Likely pathogenic	5	148406653	148406653	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA3498953
single nucleotide variant	NM_002437.5(MPV17):c.191C>G (p.Pro64Arg)	MPV17	Pathogenic/Likely pathogenic	2	27535635	27535635	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA1575632
single nucleotide variant	NM_003172.4(SURF1):c.681G>A (p.Trp227Ter)	SURF1	Pathogenic	9	136219371	136219371	C	T	criteria provided, single submitter	ClinGen:CA16605403
single nucleotide variant	NM_003172.4(SURF1):c.240+1G>T	SURF1	Pathogenic	9	136221678	136221678	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16605409
single nucleotide variant	NM_003172.4(SURF1):c.269T>C (p.Leu90Pro)	SURF1	Pathogenic	9	136221568	136221568	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16605654
single nucleotide variant	NM_001376.5(DYNC1H1):c.1702C>A (p.Leu568Ile)	DYNC1H1	Likely pathogenic	14	102452264	102452264	C	A	criteria provided, single submitter	ClinGen:CA16606480
single nucleotide variant	NM_025137.4(SPG11):c.7155T>G (p.Tyr2385Ter)	SPG11	Pathogenic/Likely pathogenic	15	44855496	44855496	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16607073
single nucleotide variant	NM_000304.4(PMP22):c.448G>C (p.Gly150Arg)	PMP22	Pathogenic/Likely pathogenic	17	15134269	15134269	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16607534