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.61-2A>T	NF1	Pathogenic	17	29482999	29482999	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA398987996
single nucleotide variant	NM_001042492.3(NF1):c.82C>T (p.Gln28Ter)	NF1	Pathogenic	17	29483022	29483022	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA398988142
Deletion	NM_001042492.3(NF1):c.154del (p.Ser52fs)	NF1	Pathogenic	17	29483091	29483091	GT	G	criteria provided, single submitter	ClinGen:CA645369657
Deletion	NM_001042492.3(NF1):c.319del (p.Thr107fs)	NF1	Pathogenic	17	29490232	29490232	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369649
Deletion	NM_001042492.3(NF1):c.421del (p.Val141fs)	NF1	Pathogenic	17	29490333	29490333	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369715
Duplication	NM_001042492.3(NF1):c.653dup (p.Ala219fs)	NF1	Pathogenic	17	29508502	29508503	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369651
single nucleotide variant	NM_001042492.3(NF1):c.662G>A (p.Trp221Ter)	NF1	Pathogenic	17	29508735	29508735	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA398989666
single nucleotide variant	NM_001042492.3(NF1):c.1062G>A (p.Lys354=)	NF1	Pathogenic/Likely pathogenic	17	29527613	29527613	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA499218806
single nucleotide variant	NM_001042492.3(NF1):c.1063-13G>A	NF1	Pathogenic/Likely pathogenic	17	29528042	29528042	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369653
Deletion	NM_001042492.3(NF1):c.1218del (p.His407fs)	NF1	Pathogenic	17	29528459	29528459	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369717