"Genome-Nilou Lab"[submitter] AND "TEK"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1239437	NM_000459.5(TEK):c.761-40C>T	TEK	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1284626	NM_000459.5(TEK):c.1037A>C (p.Gln346Pro)	TEK (Q303P +2 more)	Single nucleotide variant (missense variant)	Multiple cutaneous and mucosal venous malformations +2 more	GBenign
Select item 366434	NM_000459.5(TEK):c.1962A>G (p.Ser654=)	TEK	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 518397	NM_000459.5(TEK):c.2209+17A>G	TEK	Single nucleotide variant (intron variant)	Multiple cutaneous and mucosal venous malformations +2 more	GBenign
Select item 1342243	NM_000459.5(TEK):c.2796C>T (p.Thr932=)	TEK	Single nucleotide variant (synonymous variant)	Multiple cutaneous and mucosal venous malformations +1 more	GBenign
Select item 1342252	NM_000459.5(TEK):c.3062+38dup	TEK	Duplication (intron variant)	Glaucoma 3, primary congenital, E +1 more	GBenign
Select item 1284051	NM_000459.5(TEK):c.3063-49C>T	TEK	Single nucleotide variant (intron variant)	Multiple cutaneous and mucosal venous malformations +2 more	GBenign

ClinVar