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.839G>A (p.Arg280His)	MFN2	Pathogenic	1	12061480	12061480	G	A	criteria provided, multiple submitters, no conflicts	UniProtKB:O95140#VAR_018611,OMIM:608507.0004,ClinGen:CA252151
single nucleotide variant	NM_014874.4(MFN2):c.751C>G (p.Pro251Ala)	MFN2	Pathogenic	1	12059087	12059087	C	G	criteria provided, single submitter	ClinGen:CA252154,UniProtKB:O95140#VAR_018610,OMIM:608507.0005
single nucleotide variant	NM_014874.4(MFN2):c.1071G>C (p.Lys357Asn)	MFN2	Pathogenic	1	12062071	12062071	G	C	criteria provided, single submitter	ClinGen:CA252160,UniProtKB:O95140#VAR_022464,OMIM:608507.0007
single nucleotide variant	NM_014874.4(MFN2):c.493C>G (p.His165Asp)	MFN2	Pathogenic	1	12057372	12057372	C	G	criteria provided, single submitter	ClinGen:CA252163,OMIM:608507.0008
single nucleotide variant	NM_014874.4(MFN2):c.280C>T (p.Arg94Trp)	MFN2	Pathogenic	1	12052716	12052716	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA204307,UniProtKB:O95140#VAR_029876,OMIM:608507.0009
single nucleotide variant	NM_014874.4(MFN2):c.1090C>T (p.Arg364Trp)	MFN2	Pathogenic	1	12062090	12062090	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA115469,UniProtKB:O95140#VAR_029880,OMIM:608507.0011
single nucleotide variant	NM_014874.4(MFN2):c.617C>T (p.Thr206Ile)	MFN2	Pathogenic	1	12058844	12058844	C	T	criteria provided, single submitter	ClinGen:CA115472,UniProtKB:O95140#VAR_029877,OMIM:608507.0012
single nucleotide variant	NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp)	MFN2	Pathogenic/Likely pathogenic	1	12069698	12069698	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA252166,OMIM:608507.0013
single nucleotide variant	NM_014874.4(MFN2):c.310C>T (p.Arg104Trp)	MFN2	Pathogenic	1	12052746	12052746	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA115475,OMIM:608507.0014
single nucleotide variant	NM_024577.4(SH3TC2):c.2829T>G (p.Tyr943Ter)	SH3TC2	Pathogenic	5	148406466	148406466	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA339988,OMIM:608206.0004