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.7063-2A>G	NF1	Pathogenic	17	29670025	29670025	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.7458-1G>C	NF1	Pathogenic	17	29679274	29679274	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.844C>T (p.Gln282Ter)	NF1	Pathogenic	17	29509639	29509639	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001042492.3(NF1):c.5516del (p.Ile1839fs)	NF1	Pathogenic/Likely pathogenic	17	29654764	29654764	AT	A	criteria provided, multiple submitters, no conflicts	-
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	-
Deletion	NM_001042492.3(NF1):c.6794del (p.Lys2265fs)	NF1	Pathogenic	17	29665130	29665130	TA	T	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.3G>A (p.Met1Ile)	NF1	Pathogenic	17	29422330	29422330	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.97A>T (p.Lys33Ter)	NF1	Pathogenic	17	29483037	29483037	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.173T>C (p.Leu58Pro)	NF1	Likely pathogenic	17	29483113	29483113	T	C	criteria provided, single submitter	-
Duplication	NM_001042492.3(NF1):c.221_222dup (p.Ala75fs)	NF1	Pathogenic	17	29486043	29486044	G	GCT	criteria provided, single submitter	-