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.65G>A (p.Arg22Gln)	GJB1	Pathogenic/Likely pathogenic	X	70443622	70443622	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16616533
single nucleotide variant	NM_000166.6(GJB1):c.101T>C (p.Met34Thr)	GJB1	Pathogenic	X	70443658	70443658	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16616534
Duplication	NM_000166.6(GJB1):c.343dup (p.Leu115fs)	GJB1	Pathogenic	X	70443895	70443896	A	AC	criteria provided, single submitter	ClinGen:CA16616536
single nucleotide variant	NM_000166.6(GJB1):c.178T>C (p.Cys60Arg)	GJB1	Pathogenic/Likely pathogenic	X	70443735	70443735	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16616545
single nucleotide variant	NM_000166.6(GJB1):c.102G>A (p.Met34Ile)	GJB1	Likely pathogenic	X	70443659	70443659	G	A	criteria provided, single submitter	ClinGen:CA16616704
single nucleotide variant	NM_014874.4(MFN2):c.628G>T (p.Asp210Tyr)	MFN2	Pathogenic	1	12058855	12058855	G	T	criteria provided, single submitter	ClinGen:CA16616963
single nucleotide variant	NM_014874.4(MFN2):c.830A>G (p.His277Arg)	MFN2	Likely pathogenic	1	12061471	12061471	A	G	criteria provided, single submitter	ClinGen:CA16616964
single nucleotide variant	NM_014874.4(MFN2):c.1082A>G (p.His361Arg)	MFN2	Pathogenic/Likely pathogenic	1	12062082	12062082	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16616966
Indel	NM_170707.4(LMNA):c.164_168delinsTCT (p.Glu55fs)	LMNA	Likely pathogenic	1	156084873	156084877	AGAAC	TCT	criteria provided, single submitter	ClinGen:CA16616999
Deletion	NM_170707.4(LMNA):c.835del (p.Glu279fs)	LMNA	Pathogenic	1	156105002	156105002	TG	T	criteria provided, single submitter	ClinGen:CA16617000