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.4724+1G>A	NF1	Pathogenic/Likely pathogenic	17	29588876	29588876	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA399000689
single nucleotide variant	NM_001042492.3(NF1):c.4836-1G>C	NF1	Pathogenic	17	29652837	29652837	G	C	criteria provided, single submitter	ClinGen:CA399006871
single nucleotide variant	NM_001042492.3(NF1):c.4917T>A (p.Tyr1639Ter)	NF1	Pathogenic	17	29652919	29652919	T	A	criteria provided, single submitter	ClinGen:CA399007103
Deletion	NM_001042492.3(NF1):c.5178del (p.Pro1727fs)	NF1	Pathogenic	17	29653180	29653180	TA	T	criteria provided, single submitter	ClinGen:CA658658547
Duplication	NM_001042492.3(NF1):c.6900dup (p.Leu2301fs)	NF1	Pathogenic	17	29665799	29665800	C	CA	criteria provided, single submitter	ClinGen:CA658658593
Duplication	NM_001042492.3(NF1):c.7956dup (p.Val2653fs)	NF1	Pathogenic	17	29684370	29684371	C	CA	criteria provided, single submitter	ClinGen:CA658658606
Deletion	NM_001042492.3(NF1):c.560del (p.Cys187fs)	NF1	Pathogenic	17	29496989	29496989	TG	T	criteria provided, single submitter	ClinGen:CA658658582
single nucleotide variant	NM_001042492.3(NF1):c.663G>A (p.Trp221Ter)	NF1	Pathogenic	17	29508736	29508736	G	A	criteria provided, single submitter	ClinGen:CA398989675
Deletion	NM_001042492.3(NF1):c.955del (p.Ser319fs)	NF1	Pathogenic	17	29527504	29527504	GA	G	criteria provided, single submitter	ClinGen:CA658656565
Deletion	NM_001042492.3(NF1):c.191del (p.Asn64fs)	NF1	Pathogenic	17	29483130	29483130	GA	G	criteria provided, single submitter	ClinGen:CA658658573