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
Duplication	NM_025137.4(SPG11):c.5925_5934dup (p.Val1979Ter)	SPG11	Pathogenic	15	44867171	44867172	C	CTTCCAGGTTA	criteria provided, single submitter	ClinGen:CA7534305
single nucleotide variant	NM_025137.4(SPG11):c.4790G>A (p.Trp1597Ter)	SPG11	Pathogenic	15	44881566	44881566	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA7534580
single nucleotide variant	NM_025137.4(SPG11):c.4591C>T (p.Gln1531Ter)	SPG11	Pathogenic	15	44887501	44887501	G	A	criteria provided, single submitter	ClinGen:CA392226101
Duplication	NM_025137.4(SPG11):c.3711dup (p.Tyr1238fs)	SPG11	Pathogenic	15	44891009	44891010	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA7534860
Duplication	NC_000017.10:g.(?_15134214)_(15162530_?)dup	PMP22	Pathogenic	17	15134214	15162530	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001005361.3(DNM2):c.1853C>A (p.Ala618Asp)	DNM2	Pathogenic	19	10934535	10934535	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA404041082
single nucleotide variant	NM_000166.6(GJB1):c.34G>A (p.Gly12Ser)	GJB1	Likely pathogenic	X	70443591	70443591	G	A	criteria provided, single submitter	ClinGen:CA413499462
Duplication	NM_000166.6(GJB1):c.183dup (p.Ser62fs)	GJB1	Pathogenic	X	70443739	70443740	A	AC	criteria provided, single submitter	ClinGen:CA658659009
Deletion	NM_000166.6(GJB1):c.304_306del (p.Glu102del)	GJB1	Pathogenic	X	70443861	70443863	AGAG	A	criteria provided, single submitter	ClinGen:CA658659010,OMIM:304040.0018
single nucleotide variant	NM_000166.6(GJB1):c.475G>A (p.Gly159Ser)	GJB1	Likely pathogenic	X	70444032	70444032	G	A	criteria provided, single submitter	ClinGen:CA413502674