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_014874.4(MFN2):c.1085C>T (p.Thr362Met)	MFN2	Pathogenic/Likely pathogenic	1	12062085	12062085	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA129423,UniProtKB:O95140#VAR_076897,OMIM:608507.0019
single nucleotide variant	NM_000263.4(NAGLU):c.1694G>A (p.Arg565Gln)	NAGLU	Pathogenic	17	40695718	40695718	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA129472,UniProtKB:P54802#VAR_008989,OMIM:609701.0014
single nucleotide variant	NM_022489.4(INF2):c.310T>C (p.Cys104Arg)	INF2	Pathogenic	14	105168012	105168012	T	C	criteria provided, single submitter	ClinGen:CA129509,UniProtKB:Q27J81#VAR_067590,OMIM:610982.0006
single nucleotide variant	NM_022489.4(INF2):c.312C>G (p.Cys104Trp)	INF2	Pathogenic	14	105168014	105168014	C	G	criteria provided, single submitter	ClinGen:CA129511,UniProtKB:Q27J81#VAR_067591,OMIM:610982.0008
single nucleotide variant	NM_022489.4(INF2):c.383T>C (p.Leu128Pro)	INF2	Pathogenic/Likely pathogenic	14	105168085	105168085	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA129512,UniProtKB:Q27J81#VAR_067592,OMIM:610982.0009
single nucleotide variant	NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp)	LMNA	Pathogenic/Likely pathogenic	1	156105758	156105758	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016426,OMIM:150330.0058
single nucleotide variant	NM_170707.4(LMNA):c.1412G>A (p.Arg471His)	LMNA	Pathogenic/Likely pathogenic	1	156106743	156106743	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017220,UniProtKB:P02545#VAR_070182
single nucleotide variant	NM_002437.5(MPV17):c.186+2T>C	MPV17	Pathogenic/Likely pathogenic	2	27535859	27535859	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA319928
single nucleotide variant	NM_002437.5(MPV17):c.206G>A (p.Trp69Ter)	MPV17	Pathogenic/Likely pathogenic	2	27535620	27535620	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA342971
single nucleotide variant	NM_002437.5(MPV17):c.280G>C (p.Gly94Arg)	MPV17	Likely pathogenic	2	27535456	27535456	C	G	criteria provided, multiple submitters, no conflicts	UniProtKB:P39210#VAR_076202