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.1224T>A (p.Tyr408Ter)	NF1	Pathogenic	17	29528467	29528467	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA398997606
single nucleotide variant	NM_001042492.3(NF1):c.1811T>A (p.Leu604Ter)	NF1	Pathogenic	17	29550551	29550551	T	A	criteria provided, single submitter	ClinGen:CA399004479
Deletion	NM_001042492.3(NF1):c.2237del (p.Asn746fs)	NF1	Pathogenic	17	29553687	29553687	CA	C	criteria provided, single submitter	ClinGen:CA658656608
single nucleotide variant	NM_001042492.3(NF1):c.1627C>T (p.Gln543Ter)	NF1	Pathogenic	17	29546122	29546122	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA289359163
single nucleotide variant	NM_001042492.3(NF1):c.479G>A (p.Arg160Lys)	NF1	Likely pathogenic	17	29490394	29490394	G	A	criteria provided, single submitter	ClinGen:CA398982212
single nucleotide variant	NM_001042492.3(NF1):c.2325G>A (p.Glu775=)	NF1	Pathogenic/Likely pathogenic	17	29554309	29554309	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA499225961
single nucleotide variant	NM_001042492.3(NF1):c.484C>T (p.Gln162Ter)	NF1	Pathogenic	17	29496913	29496913	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA398984667
Duplication	NM_001042492.3(NF1):c.3074_3096dup (p.Gln1033fs)	NF1	Pathogenic	17	29557360	29557361	A	AGGAGAGATGACCTCTCATTTTGC	criteria provided, single submitter	ClinGen:CA658656559
single nucleotide variant	NM_001042492.3(NF1):c.1302T>A (p.Cys434Ter)	NF1	Pathogenic	17	29533299	29533299	T	A	criteria provided, single submitter	ClinGen:CA398999306
Deletion	NM_001042492.3(NF1):c.3161_3165del (p.Asn1054fs)	NF1	Pathogenic	17	29557904	29557908	TCAAAC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656569