C0027831[trait identifier] AND "Clinical Genomics Laboratory, Washingt - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 420075	NM_001042492.3(NF1):c.801G>A (p.Trp267Ter)	NF1 (W267*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +4 more	GPathogenic
Select item 2672087	NM_001042492.3(NF1):c.1722-1G>T	NF1	Single nucleotide variant (splice acceptor variant)	Neurofibromatosis, type 1	GPathogenic
Select item 1700015	NM_001042492.3(NF1):c.2117C>T (p.Ala706Val)	NF1 (A706V)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GConflicting classifications of pathogenicity
Select item 404592	NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter)	NF1 (R1306*)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1 +5 more	GPathogenic
Select item 220152	NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter)	NF1 (R1534* +1 more)	Single nucleotide variant (nonsense)	Subcutaneous neurofibroma +8 more	GPathogenic/Likely pathogenic
Select item 220184	NM_001042492.3(NF1):c.7354C>T (p.Arg2452Cys)	NF1 (R2452C +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity

ClinVar