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_002764.4(PRPS1):c.547G>C (p.Asp183His)	PRPS1	Likely pathogenic	X	106888423	106888423	G	C	criteria provided, single submitter	ClinGen:CA254935,UniProtKB:P60891#VAR_004164,OMIM:311850.0002
single nucleotide variant	NM_002764.4(PRPS1):c.344T>C (p.Met115Thr)	PRPS1	Likely pathogenic	X	106884169	106884169	T	C	criteria provided, single submitter	ClinGen:CA340960,UniProtKB:P60891#VAR_036942,OMIM:311850.0010
single nucleotide variant	NM_000166.6(GJB1):c.424C>T (p.Arg142Trp)	GJB1	Pathogenic	X	70443981	70443981	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA255229,UniProtKB:P08034#VAR_002086,OMIM:304040.0001
single nucleotide variant	NM_000166.6(GJB1):c.514C>T (p.Pro172Ser)	GJB1	Pathogenic	X	70444071	70444071	C	T	criteria provided, multiple submitters, no conflicts	UniProtKB:P08034#VAR_002101,OMIM:304040.0002,ClinGen:CA255232
single nucleotide variant	NM_000166.6(GJB1):c.415G>A (p.Val139Met)	GJB1	Pathogenic	X	70443972	70443972	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA340967,UniProtKB:P08034#VAR_002083,OMIM:304040.0003
single nucleotide variant	NM_000166.6(GJB1):c.658C>T (p.Arg220Ter)	GJB1	Pathogenic	X	70444215	70444215	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA255238,OMIM:304040.0005
single nucleotide variant	NM_000166.6(GJB1):c.467T>G (p.Leu156Arg)	GJB1	Pathogenic/Likely pathogenic	X	70444024	70444024	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA255245,UniProtKB:P08034#VAR_002090,OMIM:304040.0007
single nucleotide variant	NM_000166.6(GJB1):c.194A>G (p.Tyr65Cys)	GJB1	Pathogenic	X	70443751	70443751	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA255248,UniProtKB:P08034#VAR_002049,OMIM:304040.0008
single nucleotide variant	NM_000166.6(GJB1):c.283G>A (p.Val95Met)	GJB1	Pathogenic/Likely pathogenic	X	70443840	70443840	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA255254,UniProtKB:P08034#VAR_002072,OMIM:304040.0011
single nucleotide variant	NM_000166.6(GJB1):c.614A>G (p.Asn205Ser)	GJB1	Pathogenic	X	70444171	70444171	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA340970,UniProtKB:P08034#VAR_002126,OMIM:304040.0012