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.3721C>T (p.Arg1241Ter)	NF1	Pathogenic	17	29562641	29562641	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA165261,OMIM:613113.0031
single nucleotide variant	NM_001042492.3(NF1):c.6007-5A>G	NF1	Pathogenic	17	29663346	29663346	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA212551,OMIM:613113.0029
single nucleotide variant	NM_001042492.3(NF1):c.4021C>T (p.Gln1341Ter)	NF1	Pathogenic	17	29576048	29576048	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA325503,OMIM:613113.0026
single nucleotide variant	NM_001042492.3(NF1):c.1260+1G>A	NF1	Pathogenic	17	29528504	29528504	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA251471,OMIM:613113.0025
single nucleotide variant	NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys)	NF1	Pathogenic	17	29541542	29541542	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA325499,UniProtKB:P21359#VAR_032465,OMIM:613113.0023
single nucleotide variant	NM_001042492.3(NF1):c.3827G>C (p.Arg1276Pro)	NF1	Pathogenic/Likely pathogenic	17	29562747	29562747	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA251463,UniProtKB:P21359#VAR_010995,OMIM:613113.0022
single nucleotide variant	NM_001042492.3(NF1):c.1642-8A>G	NF1	Pathogenic	17	29548860	29548860	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA114185,OMIM:613113.0021
single nucleotide variant	NM_001042492.3(NF1):c.4677G>A (p.Trp1559Ter)	NF1	Pathogenic	17	29588828	29588828	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA114180,OMIM:613113.0019
single nucleotide variant	NM_001042492.3(NF1):c.4236A>T (p.Arg1412Ser)	NF1	Pathogenic/Likely pathogenic	17	29585424	29585424	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA251459,OMIM:613113.0016
single nucleotide variant	NM_001042492.3(NF1):c.3104T>G (p.Met1035Arg)	NF1	Pathogenic	17	29557391	29557391	T	G	criteria provided, single submitter	ClinGen:CA251455,UniProtKB:P21359#VAR_002657,OMIM:613113.0015