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.5652T>A (p.Phe1884Leu)	NF1	Likely pathogenic	17	29657356	29657356	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.5967C>G (p.Tyr1989Ter)	NF1	Pathogenic	17	29662010	29662010	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.6430G>T (p.Glu2144Ter)	NF1	Pathogenic	17	29664388	29664388	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.6642G>C (p.Glu2214Asp)	NF1	Likely pathogenic	17	29664600	29664600	G	C	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.6751_6754del (p.Val2251fs)	NF1	Pathogenic	17	29665088	29665091	TTGTC	T	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.6819+2T>A	NF1	Pathogenic	17	29665159	29665159	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.7970+5G>T	NF1	Likely pathogenic	17	29684392	29684392	G	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000017.11:g.(?_31325814)_(31374161_?)del	NF1	Pathogenic	17	29652832	29701179	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_31334828)_(31335041_?)del	NF1	Pathogenic	17	29661846	29662059	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.288+1G>T	NF1	Pathogenic	17	29486112	29486112	G	T	criteria provided, multiple submitters, no conflicts	-