C1860335[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 40093	NM_001042492.3(NF1):c.574C>T (p.Arg192Ter)	NF1 (R192*)	Single nucleotide variant (nonsense)	not provided +8 more	GPathogenic
Select item 188280	NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter)	NF1 (R681*)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1 +8 more	GPathogenic
Select item 374022	NM_001042492.3(NF1):c.2252-3T>G	NF1	Single nucleotide variant (intron variant)	Cardiovascular phenotype +7 more	GPathogenic/Likely pathogenic
Select item 280055	NM_001042492.3(NF1):c.2446C>T (p.Arg816Ter)	NF1 (R816*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +13 more	GPathogenic
Select item 336	NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu)	NF1 (K1423E +1 more)	Single nucleotide variant (missense variant)	Axillary freckling +12 more	GPathogenic
Select item 523344	NM_001042492.3(NF1):c.4875C>G (p.Tyr1625Ter)	NF1 (Y1604* +1 more)	Single nucleotide variant (nonsense)	Axillary freckling +2 more	GPathogenic
Select item 374204	NM_001042492.3(NF1):c.5813-1G>A	NF1	Single nucleotide variant (splice acceptor variant)	Plexiform neurofibroma +5 more	GPathogenic/Likely pathogenic
Select item 523350	NM_001042492.3(NF1):c.6704+2del	NF1	Deletion (splice donor variant)	Axillary freckling +3 more	GPathogenic

ClinVar