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
Duplication	NM_001042492.3(NF1):c.5645dup (p.Cys1882fs)	NF1	Pathogenic	17	29657348	29657349	T	TG	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.5943del (p.Met1981fs)	NF1	Pathogenic	17	29661986	29661986	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.6700C>T (p.Gln2234Ter)	NF1	Pathogenic	17	29664894	29664894	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001042492.3(NF1):c.6861_6864dup (p.Val2289fs)	NF1	Pathogenic	17	29665762	29665763	G	GTCAA	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.6921G>A (p.Lys2307=)	NF1	Likely pathogenic	17	29665823	29665823	G	A	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.7062+1_7062+5del	NF1	Pathogenic	17	29667661	29667665	CAAGGT	C	criteria provided, single submitter	-
Indel	NM_001042492.3(NF1):c.7662_7664delinsAG (p.Lys2555fs)	NF1	Pathogenic	17	29683524	29683526	TAA	AG	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001042492.3(NF1):c.7921del (p.Glu2641fs)	NF1	Pathogenic	17	29684338	29684338	TG	T	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.8033del (p.Leu2677_Leu2678insTer)	NF1	Pathogenic	17	29685559	29685559	GT	G	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_31095300)_(31095379_?)del	NF1	Pathogenic	17	29422318	29422397	na	na	criteria provided, single submitter	-