C1838437[trait identifier] AND "MAGI's Lab - Research, MAGI Group"[sub - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 9293	NM_000459.5(TEK):c.2545C>T (p.Arg849Trp)	TEK (R849W +4 more)	Single nucleotide variant (missense variant)	Multiple cutaneous and mucosal venous malformations +2 more	GPathogenic
Select item 917490	NM_000459.5(TEK):c.2678A>T (p.Glu893Val)	TEK (E745V +4 more)	Single nucleotide variant (missense variant)	Multiple cutaneous and mucosal venous malformations	GLikely pathogenic
Select item 30053	NM_000459.5(TEK):c.2690A>G (p.Tyr897Cys)	TEK (Y897C +4 more)	Single nucleotide variant (missense variant)	Multiple cutaneous and mucosal venous malformations +1 more	GPathogenic
Select item 981228	NM_000459.5(TEK):c.2752C>T (p.Arg918Cys)	TEK (R770C +4 more)	Single nucleotide variant (missense variant)	Multiple cutaneous and mucosal venous malformations	GLikely pathogenic
Select item 981230	NM_000459.5(TEK):c.3295C>T (p.Arg1099Ter)	TEK (R1055* +4 more)	Single nucleotide variant (nonsense)	Multiple cutaneous and mucosal venous malformations	GPathogenic
Select item 981231	NM_000459.5(TEK):c.3324T>A (p.Tyr1108Ter)	TEK (Y1064* +4 more)	Single nucleotide variant (nonsense)	Multiple cutaneous and mucosal venous malformations	GPathogenic
Select item 981232	NM_000459.5(TEK):c.3343G>T (p.Gly1115Ter)	TEK (G1071* +4 more)	Single nucleotide variant (nonsense)	Multiple cutaneous and mucosal venous malformations	GPathogenic

ClinVar