"Department of Pediatrics, Memorial Sloan Kettering Cancer Center"[sub - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 481882	NM_001042492.3(NF1):c.484C>T (p.Gln162Ter)	NF1 (Q162*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +3 more	GPathogenic
Select item 68308	NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg)	NF1 (G629R)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 141513	NM_001042492.3(NF1):c.2033dup (p.Ile679fs)	NF1 (I679fs)	Duplication (frameshift variant)	Juvenile myelomonocytic leukemia +5 more	GPathogenic
Select item 995899	NM_001042492.3(NF1):c.3232dup (p.Ser1078fs)	NF1 (S1078fs)	Duplication (frameshift variant)	NF1-related disorder +2 more	GPathogenic
Select item 995900	NM_001042492.3(NF1):c.4388del (p.Pro1463fs)	NF1 (P1442fs +1 more)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 995898	NM_001042492.3(NF1):c.4883dup (p.Leu1628fs)	NF1 (L1607fs +1 more)	Duplication (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 230389	NM_001042492.3(NF1):c.6772C>T (p.Arg2258Ter)	NF1 (R2237* +1 more)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1 +3 more	GPathogenic

ClinVar