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_000304.4(PMP22):c.228C>G (p.Ser76Arg)	PMP22	Likely pathogenic	17	15142879	15142879	G	C	criteria provided, single submitter	ClinGen:CA398268148
Deletion	NM_181882.3(PRX):c.3611del (p.Leu1204fs)	PRX	Pathogenic	19	40900648	40900648	CA	C	criteria provided, single submitter	ClinGen:CA9443825
Deletion	NM_181882.3(PRX):c.3286_3356del (p.Ile1096fs)	PRX	Pathogenic/Likely pathogenic	19	40900903	40900973	ACTGACGGCCACAGCCCCCTCTGCCCTCCCTTCCTCCTGGGCGCCCAGCGTGACCAGCTCCACCTCGGGGAT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA507678707
single nucleotide variant	NM_000166.6(GJB1):c.64C>T (p.Arg22Ter)	GJB1	Pathogenic	X	70443621	70443621	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA413500696
single nucleotide variant	NM_000166.6(GJB1):c.266T>C (p.Leu89Pro)	GJB1	Pathogenic	X	70443823	70443823	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA413501709
single nucleotide variant	NM_000166.6(GJB1):c.478T>C (p.Tyr160His)	GJB1	Pathogenic/Likely pathogenic	X	70444035	70444035	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA413502688
single nucleotide variant	NM_000166.6(GJB1):c.548G>A (p.Arg183His)	GJB1	Pathogenic	X	70444105	70444105	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA413503111
single nucleotide variant	NM_000166.6(GJB1):c.622G>A (p.Glu208Lys)	GJB1	Pathogenic	X	70444179	70444179	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA413503325
Duplication	NM_014874.4(MFN2):c.406dup (p.Val136fs)	MFN2	Pathogenic/Likely pathogenic	1	12056304	12056305	C	CG	criteria provided, multiple submitters, no conflicts	ClinGen:CA598817
single nucleotide variant	NM_014874.4(MFN2):c.818T>G (p.Val273Gly)	MFN2	Pathogenic/Likely pathogenic	1	12061459	12061459	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA338441387