"Department of Molecular Diagnostics, Institute of Oncology Ljubljana" - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 586954	NM_001042492.3(NF1):c.122A>T (p.Glu41Val)	NF1 (E41V)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 1012198	NM_001042492.3(NF1):c.238del (p.Tyr80fs)	NF1 (Y80fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 571198	NM_001042492.3(NF1):c.288+1G>T	NF1	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic
Select item 1012199	NM_001042492.3(NF1):c.598A>T (p.Lys200Ter)	NF1 (K200*)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1	GPathogenic
Select item 374108	NM_001042492.3(NF1):c.1721+3A>G	NF1 (Y575C)	Single nucleotide variant (missense variant +1 more)	Neurofibromatosis, type 1 +6 more	GPathogenic
Select item 935938	NM_001042492.3(NF1):c.3049C>T (p.Gln1017Ter)	NF1 (Q1017*)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1 +2 more	GPathogenic
Select item 220152	NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter)	NF1 (R1534* +1 more)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1 +8 more	GPathogenic/Likely pathogenic
Select item 404571	NM_001042492.3(NF1):c.6921+1G>A	NF1	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +3 more	GPathogenic
Select item 586981	NM_001042492.3(NF1):c.7458-17T>G	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GLikely pathogenic