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.2325+3A>G	NF1	Pathogenic/Likely pathogenic	17	29554312	29554312	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043041
single nucleotide variant	NM_001042492.3(NF1):c.3911T>A (p.Leu1304Ter)	NF1	Pathogenic	17	29562976	29562976	T	A	criteria provided, single submitter	ClinGen:CA16043044
single nucleotide variant	NM_001042492.3(NF1):c.669G>A (p.Trp223Ter)	NF1	Pathogenic	17	29508742	29508742	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043099
Deletion	NM_001042492.3(NF1):c.6062del (p.Gly2021fs)	NF1	Pathogenic	17	29663405	29663405	AG	A	criteria provided, single submitter	ClinGen:CA16043103
Deletion	NM_001042492.3(NF1):c.68del (p.Ile23fs)	NF1	Likely pathogenic	17	29483008	29483008	AT	A	criteria provided, single submitter	ClinGen:CA16043520
single nucleotide variant	NM_001042492.3(NF1):c.1721+3A>G	NF1	Pathogenic	17	29548950	29548950	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043521
single nucleotide variant	NM_001042492.3(NF1):c.2252-3T>G	NF1	Pathogenic/Likely pathogenic	17	29554233	29554233	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043522
single nucleotide variant	NM_001042492.3(NF1):c.2410-1G>A	NF1	Pathogenic	17	29556042	29556042	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043523
single nucleotide variant	NM_001042492.3(NF1):c.2709G>A (p.Val903=)	NF1	Pathogenic	17	29556342	29556342	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043524
single nucleotide variant	NM_001042492.3(NF1):c.5813-1G>A	NF1	Pathogenic/Likely pathogenic	17	29661855	29661855	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043525