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
single nucleotide variant	NM_001042492.3(NF1):c.3076A>T (p.Arg1026Ter)	NF1	Pathogenic	17	29557363	29557363	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA398987492
Deletion	NM_001042492.3(NF1):c.3537del (p.Phe1179fs)	NF1	Pathogenic	17	29560058	29560058	AT	A	criteria provided, single submitter	ClinGen:CA645509459
single nucleotide variant	NM_001042492.3(NF1):c.3566A>G (p.Gln1189Arg)	NF1	Likely pathogenic	17	29560089	29560089	A	G	criteria provided, single submitter	ClinGen:CA8486195
Deletion	NM_001042492.3(NF1):c.3757_3797del (p.Leu1253fs)	NF1	Pathogenic	17	29562676	29562716	TACTCTACCAACTGCTCTGGAACATGTTTTCTAAAGAAGTAG	T	criteria provided, single submitter	ClinGen:CA645509460
single nucleotide variant	NM_001042492.3(NF1):c.3790G>T (p.Glu1264Ter)	NF1	Pathogenic	17	29562710	29562710	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA398992616
single nucleotide variant	NM_001042492.3(NF1):c.4577+1G>A	NF1	Pathogenic	17	29587534	29587534	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA398999994
single nucleotide variant	NM_001042492.3(NF1):c.4892T>G (p.Leu1631Ter)	NF1	Pathogenic	17	29652894	29652894	T	G	criteria provided, single submitter	ClinGen:CA399007044
Deletion	NM_001042492.3(NF1):c.5333_5334del (p.Phe1778fs)	NF1	Pathogenic	17	29654580	29654581	CTT	C	criteria provided, single submitter	ClinGen:CA645509509
Deletion	NM_001042492.3(NF1):c.5765_5766del (p.Leu1922fs)	NF1	Pathogenic	17	29657468	29657469	CCT	C	criteria provided, single submitter	ClinGen:CA645509510
Deletion	NM_001042492.3(NF1):c.6373_6376del (p.Leu2125fs)	NF1	Pathogenic	17	29663878	29663881	ACTGG	A	criteria provided, single submitter	ClinGen:CA645509511