"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 404429	NM_001042492.3(NF1):c.1A>G (p.Met1Val)	LOC111811965, MIR4733HG +1 more (M1V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 230597	NM_001042492.3(NF1):c.31C>T (p.Gln11Ter)	LOC111811965, MIR4733HG +1 more (Q11*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 835685	NM_001042492.3(NF1):c.38T>C (p.Val13Ala)	LOC111811965, MIR4733HG +1 more (V13A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 576465	NM_001042492.3(NF1):c.58C>T (p.Gln20Ter)	LOC111811965, MIR4733HG +1 more (Q20*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 663201	NM_001042492.3(NF1):c.60+1G>C	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (splice donor variant)	Neurofibromatosis, type 1	GPathogenic/Likely pathogenic

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