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.4330A>G (p.Lys1444Glu)	NF1	Pathogenic	17	29585518	29585518	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA251440,OMIM:613113.0005
single nucleotide variant	NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter)	NF1	Pathogenic	17	29661945	29661945	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA325489,OMIM:613113.0012
single nucleotide variant	NM_001042492.3(NF1):c.4084C>T (p.Arg1362Ter)	NF1	Pathogenic	17	29576111	29576111	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA325494,OMIM:613113.0027
single nucleotide variant	NM_001042492.3(NF1):c.3113+1G>A	NF1	Pathogenic	17	29557401	29557401	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA251454,OMIM:613113.0013
Deletion	NM_001042492.3(NF1):c.1541_1542del (p.Gln514fs)	NF1	Pathogenic	17	29546036	29546037	CAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA190564,OMIM:613113.0014
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
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.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.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.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