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.223C>T (p.Arg75Trp)	GJB1	Pathogenic/Likely pathogenic	X	70443780	70443780	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA341601,UniProtKB:P08034#VAR_002053
single nucleotide variant	NM_000166.6(GJB1):c.43C>T (p.Arg15Trp)	GJB1	Pathogenic	X	70443600	70443600	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA333982,UniProtKB:P08034#VAR_002016
single nucleotide variant	NM_000166.6(GJB1):c.536G>A (p.Cys179Tyr)	GJB1	Likely pathogenic	X	70444093	70444093	G	A	criteria provided, single submitter	ClinGen:CA341605
single nucleotide variant	NM_000166.6(GJB1):c.556G>A (p.Glu186Lys)	GJB1	Pathogenic	X	70444113	70444113	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA341609,UniProtKB:P08034#VAR_002114
single nucleotide variant	NM_024577.4(SH3TC2):c.1178-1G>A	SH3TC2	Pathogenic	5	148408118	148408118	C	T	criteria provided, single submitter	ClinGen:CA342371
single nucleotide variant	NM_024577.4(SH3TC2):c.1969G>A (p.Glu657Lys)	SH3TC2	Pathogenic/Likely pathogenic	5	148407326	148407326	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA339774,UniProtKB:Q8TF17#VAR_018269,OMIM:608206.0007
single nucleotide variant	NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys)	SH3TC2	Pathogenic/Likely pathogenic	5	148407323	148407323	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA342372,UniProtKB:Q8TF17#VAR_018270
single nucleotide variant	NM_024577.4(SH3TC2):c.2710C>T (p.Arg904Ter)	SH3TC2	Pathogenic	5	148406585	148406585	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA339763
Deletion	NM_024577.4(SH3TC2):c.3341del (p.Pro1114fs)	SH3TC2	Pathogenic	5	148388551	148388551	AG	A	criteria provided, single submitter	ClinGen:CA342387
single nucleotide variant	NM_024577.4(SH3TC2):c.3601C>T (p.Gln1201Ter)	SH3TC2	Pathogenic	5	148386518	148386518	G	A	criteria provided, single submitter	ClinGen:CA342388