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
single nucleotide variant	NM_001042492.3(NF1):c.1724C>G (p.Ser575Ter)	NF1	Pathogenic	17	29550464	29550464	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.1818C>A (p.Cys606Ter)	NF1	Pathogenic	17	29550558	29550558	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.1845G>A (p.Lys615=)	NF1	Pathogenic	17	29550585	29550585	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001042492.3(NF1):c.2034del (p.Ile679fs)	NF1	Pathogenic	17	29553485	29553485	CG	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001042492.3(NF1):c.2041del (p.Arg681fs)	NF1	Pathogenic	17	29553491	29553491	GC	G	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.26G>A (p.Trp9Ter)	NF1	Pathogenic	17	29422353	29422353	G	A	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.2167del (p.Val723fs)	NF1	Pathogenic	17	29553615	29553615	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.2266C>T (p.Gln756Ter)	NF1	Pathogenic	17	29554250	29554250	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001042492.3(NF1):c.2380del (p.Tyr794fs)	NF1	Pathogenic	17	29554595	29554595	CT	C	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.2434del (p.Ile812fs)	NF1	Pathogenic	17	29556067	29556067	CA	C	criteria provided, single submitter	-