神経線維腫症I型

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
Deletion	NC_000017.11:g.(?_31334832)_(31335037_?)del	NF1	Pathogenic	17	29661850	29662055	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.3708+1G>T	NF1	Pathogenic	17	29560232	29560232	G	T	criteria provided, single submitter	ClinGen:CA398990783
single nucleotide variant	NM_001042492.3(NF1):c.6148-1G>C	NF1	Pathogenic/Likely pathogenic	17	29663652	29663652	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA399011666
single nucleotide variant	NM_001042492.3(NF1):c.6402T>A (p.Cys2134Ter)	NF1	Pathogenic	17	29663907	29663907	T	A	criteria provided, single submitter	ClinGen:CA399012912
single nucleotide variant	NM_001042492.3(NF1):c.3709-1G>A	NF1	Pathogenic	17	29562628	29562628	G	A	criteria provided, single submitter	ClinGen:CA398992253
single nucleotide variant	NM_001042492.3(NF1):c.3773G>A (p.Trp1258Ter)	NF1	Pathogenic	17	29562693	29562693	G	A	criteria provided, single submitter	ClinGen:CA398992543
single nucleotide variant	NM_001042492.3(NF1):c.4030G>T (p.Glu1344Ter)	NF1	Pathogenic	17	29576057	29576057	G	T	criteria provided, single submitter	ClinGen:CA398994927
single nucleotide variant	NM_001042492.3(NF1):c.7189+1G>A	NF1	Pathogenic	17	29670154	29670154	G	A	criteria provided, single submitter	ClinGen:CA399015793
Duplication	NM_001042492.3(NF1):c.7989dup (p.Lys2664Ter)	NF1	Pathogenic	17	29685515	29685516	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA645572290
single nucleotide variant	NM_001042492.3(NF1):c.60+1G>T	NF1	Pathogenic	17	29422388	29422388	G	T	criteria provided, single submitter	ClinGen:CA398979449