神経線維腫症I型

小児・神経疾患

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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	NC_000017.11:g.(?_31094927)_(31095369_?)del	NF1	Pathogenic	17	29421945	29422387	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.60+1G>T	NF1	Pathogenic	17	29422388	29422388	G	T	criteria provided, single submitter	ClinGen:CA398979449
single nucleotide variant	NM_001042492.3(NF1):c.60+1G>C	NF1	Pathogenic/Likely pathogenic	17	29422388	29422388	G	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001042492.3(NF1):c.60+2del	NF1	Likely pathogenic	17	29422389	29422389	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369716
Deletion	NC_000017.11:g.(?_31095300)_(31095379_?)del	NF1	Pathogenic	17	29422318	29422397	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.61-7486G>T	NF1	Pathogenic/Likely pathogenic	17	29475515	29475515	G	T	criteria provided, multiple submitters, no conflicts	-
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.61-2A>G	NF1	Pathogenic/Likely pathogenic	17	29482999	29482999	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA398987994
Deletion	NM_001042492.3(NF1):c.68del (p.Ile23fs)	NF1	Likely pathogenic	17	29483008	29483008	AT	A	criteria provided, single submitter	ClinGen:CA16043520
single nucleotide variant	NM_001042492.3(NF1):c.79C>T (p.Gln27Ter)	NF1	Pathogenic/Likely pathogenic	17	29483019	29483019	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615539