"PreventionGenetics, part of Exact Sciences"[submitter] AND "TEK"[gene - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3049125	NM_000459.5(TEK):c.213G>A (p.Pro71=)	TEK	Single nucleotide variant (synonymous variant +1 more)	TEK-related disorder	GLikely benign
Select item 366393	NM_000459.5(TEK):c.309A>C (p.Glu103Asp)	TEK (E103D)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2631025	NM_000459.5(TEK):c.447AGA[2] (p.Glu151del)	TEK (E151del +1 more)	Microsatellite (inframe_deletion +1 more)	TEK-related disorder	GUncertain significance
Select item 3050801	NM_000459.5(TEK):c.761-14_761-10del	TEK	Microsatellite (intron variant)	TEK-related disorder	GLikely benign
Select item 2633325	NM_000459.5(TEK):c.1340C>T (p.Pro447Leu)	TEK (P300L +2 more)	Single nucleotide variant (missense variant)	TEK-related disorder	GUncertain significance
Select item 716945	NM_000459.5(TEK):c.1346A>G (p.Asn449Ser)	TEK (N449S +2 more)	Single nucleotide variant (missense variant)	Multiple cutaneous and mucosal venous malformations +2 more	GBenign/Likely benign
Select item 366433	NM_000459.5(TEK):c.1900C>T (p.Leu634Phe)	TEK (L634F +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 976620	NM_000459.5(TEK):c.2546G>A (p.Arg849Gln)	TEK (R805Q +4 more)	Single nucleotide variant (missense variant)	Multiple cutaneous and mucosal venous malformations +1 more	GConflicting classifications of pathogenicity
Select item 2060952	NM_000459.5(TEK):c.2576-8C>T	TEK	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 3048737	NM_000459.5(TEK):c.2712C>T (p.Tyr904=)	TEK	Single nucleotide variant (synonymous variant)	TEK-related disorder	GLikely benign
Select item 3034777	NM_000459.5(TEK):c.2878-8A>C	TEK	Single nucleotide variant (intron variant)	TEK-related disorder	GLikely benign
Select item 3046101	NM_000459.5(TEK):c.*5G>A	TEK	Single nucleotide variant (3 prime UTR variant)	TEK-related disorder	GBenign
Select item 3046173	NM_000459.5(TEK):c.*8C>T	TEK	Single nucleotide variant (3 prime UTR variant)	TEK-related disorder	GBenign