Related gene-specific medical variations for Gene (Select 7010) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235894	NM_000459.5(TEK):c.3200+1G>A	TEK	Single nucleotide variant (splice donor variant)	Glaucoma 3, primary congenital, E	GLikely pathogenic
Select item 3063106	GRCh37/hg19 9p21.2(chr9:27209491-27267535)x1	TEK	Copy number loss	not specified	GLikely pathogenic
Select item 2582395	NM_000459.5(TEK):c.434del (p.Lys145fs)	TEK (K145fs +1 more)	Deletion (frameshift variant)	Glaucoma 3, primary congenital, E	GLikely pathogenic
Select item 2434117	NM_000459.5(TEK):c.1293_1297del (p.Met432fs)	TEK (M285fs +2 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 981232	NM_000459.5(TEK):c.3343G>T (p.Gly1115Ter)	TEK (G1071* +4 more)	Single nucleotide variant (nonsense)	Abnormal cardiovascular system morphology	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 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 931734	NM_000459.5(TEK):c.922G>A (p.Gly308Arg)	TEK (G308R)	Single nucleotide variant (missense variant +1 more)	Glaucoma 3, primary congenital, E	GUncertain significance
Select item 815253	GRCh37/hg19 9p21.2(chr9:27148497-27214342)x1	TEK	Copy number loss	not provided	GUncertain significance
Select item 811246	NM_000459.5(TEK):c.1909+18C>G	TEK	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 618423	NM_000459.5(TEK):c.1789T>C (p.Leu597=)	TEK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 618422	NM_000459.5(TEK):c.858G>T (p.Gly286=)	TEK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 618421	NM_000459.5(TEK):c.1237C>T (p.Arg413Trp)	TEK (R413W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 440329	NM_000459.5(TEK):c.2880T>C (p.Phe960=)	TEK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign