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.2252-2A>G	NF1	Pathogenic/Likely pathogenic	17	29554234	29554234	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA398982651
Deletion	NM_001042492.3(NF1):c.2483del (p.Leu828fs)	NF1	Pathogenic	17	29556114	29556114	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369719
Deletion	NM_001042492.3(NF1):c.2753del (p.Lys918fs)	NF1	Pathogenic	17	29556385	29556385	TA	T	criteria provided, single submitter	ClinGen:CA645369718
single nucleotide variant	NM_001042492.3(NF1):c.2850+1G>T	NF1	Pathogenic/Likely pathogenic	17	29556484	29556484	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA398985902
single nucleotide variant	NM_001042492.3(NF1):c.3044T>C (p.Leu1015Pro)	NF1	Pathogenic/Likely pathogenic	17	29557331	29557331	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA398987362
single nucleotide variant	NM_001042492.3(NF1):c.3097C>T (p.Gln1033Ter)	NF1	Pathogenic	17	29557384	29557384	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA398987638
Deletion	NM_001042492.3(NF1):c.3111del (p.Phe1037fs)	NF1	Pathogenic	17	29557396	29557396	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369646
single nucleotide variant	NM_001042492.3(NF1):c.3198-2A>G	NF1	Pathogenic/Likely pathogenic	17	29559089	29559089	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA398988490
Deletion	NM_001042492.3(NF1):c.3525_3526del (p.Arg1176fs)	NF1	Pathogenic	17	29560048	29560049	CAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369720
single nucleotide variant	NM_001042492.3(NF1):c.3870+1G>A	NF1	Pathogenic/Likely pathogenic	17	29562791	29562791	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA398992939