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.77C>T (p.Ser26Leu)	GJB1	Pathogenic	X	70443634	70443634	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA270646,UniProtKB:P08034#VAR_002025
single nucleotide variant	NM_014874.4(MFN2):c.775C>T (p.Arg259Cys)	MFN2	Pathogenic/Likely pathogenic	1	12059111	12059111	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA270652
single nucleotide variant	NM_006158.5(NEFL):c.794A>G (p.Tyr265Cys)	NEFL	Likely pathogenic	8	24813236	24813236	T	C	criteria provided, single submitter	ClinGen:CA233082
Deletion	NM_170707.4(LMNA):c.1086del (p.Leu363fs)	LMNA	Pathogenic	1	156105840	156105840	CT	C	criteria provided, single submitter	ClinGen:CA016573
single nucleotide variant	NM_014845.6(FIG4):c.290-2A>T	FIG4	Likely pathogenic	6	110048310	110048310	A	T	criteria provided, single submitter	ClinGen:CA270675,OMIM:609390.0015
Deletion	NM_004373.4(COX6A1):c.247-7_247-3del	COX6A1	Pathogenic	12	120878247	120878251	TCACTC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA170855,OMIM:602072.0001
single nucleotide variant	NM_001540.5(HSPB1):c.380G>T (p.Arg127Leu)	HSPB1	Pathogenic/Likely pathogenic	7	75933134	75933134	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA270935
single nucleotide variant	NM_001005361.3(DNM2):c.1124T>A (p.Val375Glu)	DNM2	Likely pathogenic	19	10904527	10904527	T	A	criteria provided, single submitter	ClinGen:CA172095
single nucleotide variant	NM_001005361.3(DNM2):c.1565G>A (p.Arg522His)	DNM2	Pathogenic/Likely pathogenic	19	10922947	10922947	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA172101,UniProtKB:P50570#VAR_068367
single nucleotide variant	NM_001005361.3(DNM2):c.1567A>G (p.Arg523Gly)	DNM2	Likely pathogenic	19	10922949	10922949	A	G	criteria provided, single submitter	ClinGen:CA233294,UniProtKB:P50570#VAR_068368