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.434T>C (p.Leu145Pro)	NF1	Pathogenic	17	29490349	29490349	T	C	criteria provided, single submitter	ClinGen:CA219570,UniProtKB:P21359#VAR_032460,UniProtKB/Swiss-Prot:VAR_032460
single nucleotide variant	NM_001042492.3(NF1):c.4465A>G (p.Ser1489Gly)	NF1	Pathogenic	17	29587421	29587421	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA219587,UniProtKB:P21359#VAR_010998,UniProtKB/Swiss-Prot:VAR_010998
single nucleotide variant	NM_001042492.3(NF1):c.479G>C (p.Arg160Thr)	NF1	Pathogenic	17	29490394	29490394	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA219595,UniProtKB:P21359#VAR_065888,UniProtKB/Swiss-Prot:VAR_065888
single nucleotide variant	NM_001042492.3(NF1):c.581T>G (p.Leu194Arg)	NF1	Pathogenic	17	29497010	29497010	T	G	criteria provided, single submitter	ClinGen:CA219607,UniProtKB:P21359#VAR_032462,UniProtKB/Swiss-Prot:VAR_032462
single nucleotide variant	NM_001042492.3(NF1):c.5854T>C (p.Trp1952Arg)	NF1	Pathogenic/Likely pathogenic	17	29661897	29661897	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA219611,UniProtKB:P21359#VAR_002662,UniProtKB/Swiss-Prot:VAR_002662
single nucleotide variant	NM_001042492.3(NF1):c.6001G>A (p.Gly2001Arg)	NF1	Likely pathogenic	17	29662044	29662044	G	A	criteria provided, single submitter	ClinGen:CA219619,UniProtKB:P21359#VAR_021762,UniProtKB/Swiss-Prot:VAR_021762
single nucleotide variant	NM_001042492.3(NF1):c.970T>C (p.Cys324Arg)	NF1	Likely pathogenic	17	29527521	29527521	T	C	criteria provided, single submitter	ClinGen:CA219647,UniProtKB:P21359#VAR_032463,UniProtKB/Swiss-Prot:VAR_032463
single nucleotide variant	NM_001042492.3(NF1):c.1392+1G>A	NF1	Pathogenic	17	29533390	29533390	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA289352384
single nucleotide variant	NM_001042492.3(NF1):c.5551C>T (p.Pro1851Ser)	NF1	Pathogenic/Likely pathogenic	17	29654799	29654799	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.889-1G>T	NF1	Likely pathogenic	17	29527439	29527439	G	T	criteria provided, single submitter	ClinGen:CA164555