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	NM_001042492.3(NF1):c.2122del (p.Ser708fs)	NF1	Pathogenic	17	29553573	29553573	GT	G	criteria provided, single submitter	-
Duplication	NM_001042492.3(NF1):c.2158dup (p.Arg720fs)	NF1	Pathogenic	17	29553607	29553608	T	TC	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.2251G>A (p.Gly751Arg)	NF1	Pathogenic/Likely pathogenic	17	29553702	29553702	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.2272A>T (p.Arg758Ter)	NF1	Pathogenic	17	29554256	29554256	A	T	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.2293del (p.Arg765fs)	NF1	Pathogenic	17	29554277	29554277	GC	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.2325G>T (p.Glu775Asp)	NF1	Pathogenic	17	29554309	29554309	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.2329T>C (p.Trp777Arg)	NF1	Pathogenic/Likely pathogenic	17	29554544	29554544	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.2375T>A (p.Leu792His)	NF1	Likely pathogenic	17	29554590	29554590	T	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001042492.3(NF1):c.2458del (p.His819_Val820insTer)	NF1	Pathogenic	17	29556091	29556091	TG	T	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.2525del (p.Gly842fs)	NF1	Pathogenic	17	29556157	29556157	TG	T	criteria provided, single submitter	-