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_030962.4(SBF2):c.4315C>T (p.Gln1439Ter)	SBF2	Pathogenic	11	9829675	9829675	G	A	criteria provided, single submitter	ClinGen:CA10584394
single nucleotide variant	NM_030962.4(SBF2):c.4257+1G>A	SBF2	Likely pathogenic	11	9830447	9830447	C	T	criteria provided, single submitter	ClinGen:CA10577431
single nucleotide variant	NM_030962.4(SBF2):c.3857T>C (p.Val1286Ala)	SBF2	Likely pathogenic	11	9838508	9838508	A	G	criteria provided, single submitter	ClinGen:CA358114
single nucleotide variant	NM_030962.4(SBF2):c.3586C>T (p.Arg1196Ter)	SBF2	Pathogenic	11	9853837	9853837	G	A	criteria provided, single submitter	ClinGen:CA115865,OMIM:607697.0003
single nucleotide variant	NM_030962.4(SBF2):c.3526C>T (p.Arg1176Ter)	SBF2	Pathogenic	11	9853897	9853897	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_030962.4(SBF2):c.2536+1G>A	SBF2	Pathogenic	11	9875086	9875086	C	T	criteria provided, single submitter	ClinGen:CA16613653
single nucleotide variant	NM_030962.4(SBF2):c.1951C>T (p.Gln651Ter)	SBF2	Pathogenic	11	9879922	9879922	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_030962.4(SBF2):c.1459C>T (p.Arg487Ter)	SBF2	Pathogenic	11	9990029	9990029	G	A	criteria provided, multiple submitters, no conflicts	OMIM:607697.0004,ClinGen:CA115868
single nucleotide variant	NM_030962.4(SBF2):c.1297-2A>G	SBF2	Likely pathogenic	11	10011144	10011144	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_030962.4(SBF2):c.1066C>T (p.Arg356Ter)	SBF2	Pathogenic	11	10014638	10014638	G	A	criteria provided, single submitter	-