C0346326[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 374108	NM_001042492.3(NF1):c.1721+3A>G	NF1 (Y575C)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GPathogenic
Select item 188280	NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter)	NF1 (R681*)	Single nucleotide variant (nonsense)	not specified +8 more	GPathogenic
Select item 336	NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu)	NF1 (K1423E +1 more)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +12 more	GPathogenic

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