C0027831[trait identifier] AND "Beijing Key Laboratory for Genetic Res - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 998047	NM_001042492.3(NF1):c.61-2A>C	NF1	Single nucleotide variant (splice acceptor variant)	Neurofibromatosis, type 1	GPathogenic
Select item 430497	NM_001042492.3(NF1):c.503C>G (p.Ser168Ter)	NF1 (S168*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +4 more	GPathogenic
Select item 998043	NM_001042492.3(NF1):c.1639G>T (p.Glu547Ter)	NF1 (E547*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +1 more	GPathogenic
Select item 230937	NM_001042492.3(NF1):c.2329T>A (p.Trp777Arg)	NF1 (W777R)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 457803	NM_001042492.3(NF1):c.6705-1G>A	NF1	Single nucleotide variant (splice acceptor variant)	Neurofibromatosis, type 1	GPathogenic
Select item 966483	NM_001042492.3(NF1):c.7194C>G (p.Tyr2398Ter)	NF1 (Y2377* +1 more)	Single nucleotide variant (nonsense)	Juvenile myelomonocytic leukemia +1 more	GPathogenic

ClinVar