NM_000459.5(TEK):c.2744G>A (p.Arg915His)Pathogenic
Multiple cutaneous and mucosal venous malformations|not provided|Vascular skin disorders
β
β
ββ2025β Residue 915
NM_000459.5(TEK):c.3295C>T (p.Arg1099Ter)Pathogenic
Abnormal cardiovascular system morphology|Multiple cutaneous and mucosal venous malformations
β
β
ββ2025β Residue 1099
NM_000459.5(TEK):c.2743C>T (p.Arg915Cys)Pathogenic
Abnormal cardiovascular system morphology|not provided|Multiple cutaneous and mucosal venous malformations|Vascular malformation
β
β
ββ2025β Residue 915
NM_000459.5(TEK):c.2690A>G (p.Tyr897Cys)Pathogenic
Multiple cutaneous and mucosal venous malformations|not provided|Abnormal cardiovascular system morphology|Blue rubber bleb nevus;Ventricular septal defect
β
β
ββ2025β Residue 897
NM_000459.5(TEK):c.1552C>T (p.Gln518Ter)Pathogenic
Glaucoma 3, primary congenital, E;Glaucoma 3, primary infantile, B;Multiple cutaneous and mucosal venous malformations|not provided
β
β
ββ2025β Residue 518
NM_000459.5(TEK):c.2752C>T (p.Arg918Cys)Pathogenic
Abnormal cardiovascular system morphology|Multiple cutaneous and mucosal venous malformations|not provided
β
β
ββ2024β Residue 918
NM_000459.5(TEK):c.2545C>T (p.Arg849Trp)Pathogenic
Multiple cutaneous and mucosal venous malformations|Abnormal cardiovascular system morphology|Segmental undergrowth associated with venous malformation without capillary component|not provided|TEK-related disorder
β
β
ββ2024β Residue 849
NM_000459.5(TEK):c.2689T>A (p.Tyr897Asn)Pathogenic
not provided|Multiple cutaneous and mucosal venous malformations
β
β
ββ2024β Residue 897
NM_000459.5(TEK):c.3314_3316delinsACC (p.Thr1105_Thr1106delinsAsnPro)Pathogenic
not provided|Vascular malformation
β
β
ββ2024β Residue 1105
NM_000459.5(TEK):c.3325G>T (p.Glu1109Ter)Pathogenic
Segmental undergrowth associated with venous malformation without capillary component|not provided|Vascular malformation
β
β
ββ2023β Residue 1109
NM_000459.5(TEK):c.2740C>T (p.Leu914Phe)Pathogenic
Bockenheimer syndrome|not provided|Abnormal cardiovascular system morphology|Vascular malformation
β
β
ββ2023β Residue 914
NM_000459.5(TEK):c.2689T>C (p.Tyr897His)Pathogenic
not provided|Vascular malformation
β
β
ββ2023β Residue 897
NM_000459.5(TEK):c.3327_3328del (p.Lys1110fs)Likely pathogenic
Vascular malformation
β
βββ2025β Residue 1110
NM_000459.5(TEK):c.1284del (p.Val429fs)Likely pathogenic
Glaucoma 3, primary congenital, E
β
βββ2025β Residue 429
NM_000459.5(TEK):c.3330_3334del (p.Lys1110fs)Likely pathogenic
Venous malformation
β
βββ2025β Residue 1110
NM_000459.5(TEK):c.2690A>T (p.Tyr897Phe)Pathogenic
Venous malformation
β
βββ2025β Residue 897
NM_000459.5(TEK):c.3324_3334del (p.Glu1109fs)Likely pathogenic
Multiple cutaneous and mucosal venous malformations
β
βββ2025β Residue 1109
NM_000459.5(TEK):c.3330_3335delinsT (p.Lys1110fs)Likely pathogenic
Venous malformation
β
βββ2025β Residue 1110
NM_000459.5(TEK):c.3103G>C (p.Gly1035Arg)Pathogenic
not provided
β
βββ2025β Residue 1035
NM_000459.5(TEK):c.889C>T (p.Gln297Ter)Likely pathogenic
not provided
β
βββ2025β Residue 297