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.3447G>A (p.Met1149Ile)	NF1	Pathogenic/Likely pathogenic	17	29559850	29559850	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620364
single nucleotide variant	NM_001042492.3(NF1):c.3563A>C (p.Gln1188Pro)	NF1	Pathogenic	17	29560086	29560086	A	C	criteria provided, single submitter	ClinGen:CA16620365
Deletion	NM_001042492.3(NF1):c.3739_3742del (p.Phe1247fs)	NF1	Pathogenic	17	29562657	29562660	CTGTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620366
single nucleotide variant	NM_001042492.3(NF1):c.4332G>A (p.Lys1444=)	NF1	Pathogenic/Likely pathogenic	17	29585520	29585520	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620367
single nucleotide variant	NM_001042492.3(NF1):c.4597A>T (p.Arg1533Ter)	NF1	Pathogenic	17	29588748	29588748	A	T	criteria provided, single submitter	ClinGen:CA16620368
Duplication	NM_001042492.3(NF1):c.5529dup (p.Lys1844fs)	NF1	Pathogenic	17	29654775	29654776	A	AC	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620369
Deletion	NM_001042492.3(NF1):c.5541_5547del (p.Lys1848fs)	NF1	Pathogenic	17	29654789	29654795	CAAAAGAT	C	criteria provided, single submitter	ClinGen:CA16620370
Indel	NM_001042492.3(NF1):c.6006_6006+1delinsAA	NF1	Pathogenic	17	29662049	29662050	GG	AA	criteria provided, single submitter	ClinGen:CA16620371
Deletion	NM_001042492.3(NF1):c.6350_6353del (p.Ser2117fs)	NF1	Likely pathogenic	17	29663853	29663856	TCTCC	T	criteria provided, single submitter	ClinGen:CA16620372
Duplication	NM_001042492.3(NF1):c.7330dup (p.Thr2444fs)	NF1	Pathogenic	17	29677208	29677209	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620375