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.2251+1G>A	NF1	Pathogenic	17	29553703	29553703	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA398982599
single nucleotide variant	NM_001042492.3(NF1):c.2511G>A (p.Trp837Ter)	NF1	Pathogenic	17	29556144	29556144	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA398984135
single nucleotide variant	NM_001042492.3(NF1):c.4332+1G>A	NF1	Pathogenic/Likely pathogenic	17	29585521	29585521	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA398998182
Deletion	NM_001042492.3(NF1):c.5830del (p.Leu1944fs)	NF1	Pathogenic	17	29661872	29661872	AC	A	criteria provided, single submitter	ClinGen:CA658684017
Duplication	NM_001042492.3(NF1):c.7152dup (p.Asn2385Ter)	NF1	Pathogenic	17	29670115	29670116	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658684021
Deletion	NM_001042492.3(NF1):c.7811del (p.Leu2604fs)	NF1	Pathogenic	17	29684050	29684050	CT	C	criteria provided, single submitter	ClinGen:CA658684022
Deletion	NM_001042492.3(NF1):c.2389del (p.Ala797fs)	NF1	Likely pathogenic	17	29554604	29554604	AG	A	criteria provided, single submitter	ClinGen:CA658684016
single nucleotide variant	NM_001042492.3(NF1):c.2978T>G (p.Leu993Ter)	NF1	Pathogenic/Likely pathogenic	17	29556980	29556980	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA398986416
Duplication	NM_001042492.3(NF1):c.4791dup (p.Thr1598fs)	NF1	Likely pathogenic	17	29592310	29592311	T	TG	criteria provided, single submitter	ClinGen:CA658684014
single nucleotide variant	NM_001042492.3(NF1):c.3197+1G>A	NF1	Pathogenic/Likely pathogenic	17	29557944	29557944	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA398988339