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
Deletion	NM_001042492.3(NF1):c.7955_7956del (p.Lys2652fs)	NF1	Pathogenic	17	29684371	29684372	CAA	C	criteria provided, single submitter	-
Duplication	NM_001042492.3(NF1):c.7956dup (p.Val2653fs)	NF1	Pathogenic	17	29684370	29684371	C	CA	criteria provided, single submitter	ClinGen:CA658658606
Duplication	NM_001042492.3(NF1):c.7931dup (p.Glu2645fs)	NF1	Pathogenic	17	29684347	29684348	G	GC	criteria provided, single submitter	ClinGen:CA10583528
single nucleotide variant	NM_001042492.3(NF1):c.7926C>G (p.Tyr2642Ter)	NF1	Pathogenic	17	29684343	29684343	C	G	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.7921del (p.Glu2641fs)	NF1	Pathogenic	17	29684338	29684338	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.7920T>G (p.Tyr2640Ter)	NF1	Pathogenic/Likely pathogenic	17	29684337	29684337	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615330
Insertion	NM_001042492.3(NF1):c.7917_7918insA (p.Tyr2640fs)	NF1	Pathogenic	17	29684334	29684335	T	TA	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter)	NF1	Pathogenic/Likely pathogenic	17	29684326	29684326	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA188413
single nucleotide variant	NM_001042492.3(NF1):c.7906C>T (p.Gln2636Ter)	NF1	Pathogenic	17	29684323	29684323	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.7870-1G>A	NF1	Pathogenic	17	29684286	29684286	G	A	criteria provided, single submitter	-