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_000530.8(MPZ):c.106A>T (p.Arg36Trp)	MPZ	Pathogenic	1	161277176	161277176	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA348853
Deletion	NM_024577.4(SH3TC2):c.3303del (p.Arg1101fs)	SH3TC2	Pathogenic	5	148389857	148389857	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA349432
single nucleotide variant	NM_024577.4(SH3TC2):c.3154C>T (p.Arg1052Ter)	SH3TC2	Pathogenic	5	148392197	148392197	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349022
single nucleotide variant	NM_024577.4(SH3TC2):c.211C>T (p.Gln71Ter)	SH3TC2	Pathogenic	5	148427493	148427493	G	A	criteria provided, single submitter	ClinGen:CA348045
single nucleotide variant	NM_001540.5(HSPB1):c.250G>C (p.Gly84Arg)	HSPB1	Pathogenic/Likely pathogenic	7	75932279	75932279	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA348720
single nucleotide variant	NM_018972.4(GDAP1):c.579+1G>A	GDAP1	Pathogenic	8	75274214	75274214	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349140,OMIM:606598.0008
single nucleotide variant	NM_000399.5(EGR2):c.1226G>A (p.Arg409Gln)	EGR2	Pathogenic/Likely pathogenic	10	64573172	64573172	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA350841
Indel	NM_000304.4(PMP22):c.280_281delinsT (p.Gly94fs)	PMP22	Pathogenic	17	15142826	15142827	CC	A	criteria provided, single submitter	ClinGen:CA350485
Deletion	NM_000304.4(PMP22):c.138del (p.Ser47fs)	PMP22	Pathogenic/Likely pathogenic	17	15162451	15162451	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA350118
single nucleotide variant	NM_000166.6(GJB1):c.644G>C (p.Arg215Pro)	GJB1	Pathogenic/Likely pathogenic	X	70444201	70444201	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA349245