シャルコー・マリー・トゥース病

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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_001370298.3(FGD4):c.1081C>T (p.Arg361Ter)	FGD4	Pathogenic	12	32751500	32751500	C	T	criteria provided, multiple submitters, no conflicts	OMIM:611104.0001,ClinGen:CA251667
single nucleotide variant	NM_001370298.3(FGD4):c.1234C>T (p.Arg412Ter)	FGD4	Pathogenic	12	32754344	32754344	C	T	criteria provided, single submitter	ClinGen:CA339860,OMIM:611104.0006
single nucleotide variant	NM_022489.4(INF2):c.653G>A (p.Arg218Gln)	INF2	Pathogenic/Likely pathogenic	14	105169777	105169777	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA114723,UniProtKB:Q27J81#VAR_063081,OMIM:610982.0002
single nucleotide variant	NM_022489.4(INF2):c.652C>T (p.Arg218Trp)	INF2	Pathogenic/Likely pathogenic	14	105169776	105169776	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA114724,UniProtKB:Q27J81#VAR_063082,OMIM:610982.0003
single nucleotide variant	NM_022489.4(INF2):c.641G>A (p.Arg214His)	INF2	Pathogenic/Likely pathogenic	14	105169765	105169765	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA114725,UniProtKB:Q27J81#VAR_063080,OMIM:610982.0004
single nucleotide variant	NM_025137.4(SPG11):c.6100C>T (p.Arg2034Ter)	SPG11	Pathogenic	15	44865850	44865850	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA249690,OMIM:610844.0001
single nucleotide variant	NM_025137.4(SPG11):c.118C>T (p.Gln40Ter)	SPG11	Pathogenic	15	44955728	44955728	G	A	criteria provided, single submitter	ClinGen:CA249693,OMIM:610844.0003
Deletion	NM_025137.4(SPG11):c.733_734del (p.Met245fs)	SPG11	Pathogenic	15	44949428	44949429	CAT	C	criteria provided, multiple submitters, no conflicts	OMIM:610844.0004,ClinGen:CA277189
single nucleotide variant	NM_025137.4(SPG11):c.442+1G>C	SPG11	Pathogenic	15	44952629	44952629	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA339868,OMIM:610844.0006
single nucleotide variant	NM_025137.4(SPG11):c.7152-1G>C	SPG11	Pathogenic	15	44855500	44855500	C	G	criteria provided, single submitter	ClinGen:CA339869,OMIM:610844.0007