神経線維腫症I型

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_001042492.3(NF1):c.4532T>G (p.Leu1511Arg)	NF1	Likely pathogenic	17	29587488	29587488	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA398999724
single nucleotide variant	NM_001042492.3(NF1):c.4544A>G (p.Gln1515Arg)	NF1	Likely pathogenic	17	29587500	29587500	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA398999792
Deletion	NM_001042492.3(NF1):c.4819del (p.Tyr1607fs)	NF1	Pathogenic	17	29592336	29592336	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA499234194
Duplication	NM_001042492.3(NF1):c.4998dup (p.Pro1667fs)	NF1	Pathogenic	17	29652995	29652996	G	GT	criteria provided, single submitter	ClinGen:CA645373097
single nucleotide variant	NM_001042492.3(NF1):c.5062G>T (p.Glu1688Ter)	NF1	Pathogenic	17	29653064	29653064	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA399007427
single nucleotide variant	NM_001042492.3(NF1):c.5269-1G>C	NF1	Likely pathogenic	17	29654516	29654516	G	C	criteria provided, single submitter	ClinGen:CA399008854
single nucleotide variant	NM_001042492.3(NF1):c.5492G>A (p.Trp1831Ter)	NF1	Pathogenic	17	29654740	29654740	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA399009572
single nucleotide variant	NM_001042492.3(NF1):c.5610-2A>T	NF1	Pathogenic/Likely pathogenic	17	29657312	29657312	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA399010084
single nucleotide variant	NM_001042492.3(NF1):c.5687C>G (p.Ser1896Ter)	NF1	Pathogenic	17	29657391	29657391	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA399010257
Deletion	NM_001042492.3(NF1):c.5780del (p.Leu1927fs)	NF1	Pathogenic	17	29657480	29657480	AT	A	criteria provided, single submitter	ClinGen:CA645373101