TEK — 496 ClinVar variants
All ClinVar germline TEK variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 193 flagged for review →
21 Pathogenic · 7 Pathogenic/Likely pathogenic · 30 Likely pathogenic · 14 Conflicting · 112 Benign · 20 Benign/Likely benign · 80 Likely benign · 212 Uncertain significance
Full TEK gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 193
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
TEK p.Tyr897Phe
Pathogenic
Single submitter
Venous malformation
Predictors agree, ClinVar conflicts 9
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
TEK p.Ala925Thr
Conflicting
Single submitter
glaucoma 3, primary congenital, E
-
TEK p.Ala978Ser
Conflicting
Single submitter
Inborn genetic diseases
-
TEK p.Arg918His
Conflicting
Single submitter
vascular malformation
-
TEK p.Ile162Phe
Conflicting
Single submitter
multiple cutaneous and mucosal venous malformations
-
TEK p.Ile463Val
Conflicting
Single submitter
Inborn genetic diseases
-
TEK p.Lys294Asn
Conflicting
Single submitter
glaucoma 3, primary congenital, E
-
TEK p.Thr503Ala
Conflicting
Single submitter
multiple cutaneous and mucosal venous malformations
-
TEK p.Thr693Ile
Conflicting
Single submitter
multiple cutaneous and mucosal venous malformations
-
TEK p.Val20Ala
Conflicting
Single submitter
multiple cutaneous and mucosal venous malformations
Predictors lean, ClinVar uncertain 136
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
TEK p.Ala621Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TEK p.Ala945Ser Uncertain significance Multiple submitters
-
TEK p.Ala945Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TEK p.Arg1076Trp
Uncertain significance
Multiple submitters
multiple cutaneous and mucosal venous malformations
-
TEK p.Arg119His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TEK p.Arg673His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TEK p.Asn299Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TEK p.Asn499Ser
Uncertain significance
Multiple submitters
multiple cutaneous and mucosal venous malformations
-
TEK p.Glu790Gly
Uncertain significance
Multiple submitters
multiple cutaneous and mucosal venous malformations
-
TEK p.Gly743Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TEK p.His458Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TEK p.Leu955Phe
Uncertain significance
Multiple submitters
multiple cutaneous and mucosal venous malformations
-
TEK p.Lys435Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TEK p.Met432Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TEK p.Phe471Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TEK p.Tyr513Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TEK p.Val612Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TEK p.Val86Ile
Uncertain significance
Multiple submitters
multiple cutaneous and mucosal venous malformations
- TEK p.Ala202Gly Uncertain significance Single submitter
-
TEK p.Ala46Val
Uncertain significance
Single submitter
multiple cutaneous and mucosal venous malformations
-
TEK p.Ala739Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Ala775Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Ala793Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Ala802Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Ala83Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Ala93Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- TEK p.Arg1003His Uncertain significance Single submitter
-
TEK p.Arg107Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Arg413Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- TEK p.Arg413Trp Uncertain significance Single submitter
-
TEK p.Arg50Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Arg535His
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Arg950Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- TEK p.Arg987Gln Uncertain significance Single submitter
- TEK p.Asn1093Ser Uncertain significance Single submitter
- TEK p.Asn140Ile Uncertain significance Single submitter
-
TEK p.Asn140Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- TEK p.Asn452Asp Uncertain significance Single submitter
-
TEK p.Asn722Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Asn887Ser
Uncertain significance
Single submitter
neutropenia, severe congenital, 2, autosomal dominant
-
TEK p.Asp172His
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Asp236Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Asp587Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- TEK p.Gln1053His Uncertain significance Single submitter
-
TEK p.Gln121Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Gln182His
Uncertain significance
Single submitter
glaucoma 3, primary infantile, B
-
TEK p.Gln622His
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Gln709Lys
Uncertain significance
Single submitter
multiple cutaneous and mucosal venous malformations
-
TEK p.Glu150Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Glu524Lys
Uncertain significance
Single submitter
multiple cutaneous and mucosal venous malformations
-
TEK p.Glu53Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Glu609Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Glu627Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Glu715Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Glu91Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- TEK p.Gly217Glu Uncertain significance Single submitter
-
TEK p.Gly270Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Gly308Arg
Uncertain significance
Single submitter
glaucoma 3, primary congenital, E
- TEK p.Gly320Glu Uncertain significance Single submitter
-
TEK p.Gly678Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.His222Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.His684Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.His943Tyr
Uncertain significance
Single submitter
multiple cutaneous and mucosal venous malformations
-
TEK p.Ile352Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Ile359Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- TEK p.Ile414Leu Uncertain significance Single submitter
-
TEK p.Ile454Met
Uncertain significance
Single submitter
multiple cutaneous and mucosal venous malformations
-
TEK p.Ile541Val
Uncertain significance
Single submitter
Inborn genetic diseases
- TEK p.Ile650Thr Uncertain significance Single submitter
-
TEK p.Ile670Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Ile768Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Ile815Thr
Uncertain significance
Single submitter
multiple cutaneous and mucosal venous malformations
-
TEK p.Ile815Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Leu1061Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Leu1070Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Leu338Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Leu34Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Leu393Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- TEK p.Leu515Ile Uncertain significance Single submitter
-
TEK p.Leu629Phe
Uncertain significance
Single submitter
multiple cutaneous and mucosal venous malformations
-
TEK p.Leu732Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Leu752Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Leu763Met
Uncertain significance
Single submitter
multiple cutaneous and mucosal venous malformations
-
TEK p.Leu764Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Leu942Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- TEK p.Lys215Arg Uncertain significance Single submitter
- TEK p.Lys396Glu Uncertain significance Single submitter
-
TEK p.Lys479Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Lys745Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Lys806Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Lys808Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Lys825Arg
Uncertain significance
Single submitter
glaucoma 3, primary infantile, B
-
TEK p.Met247Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Met322Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Met348Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Met952Val
Uncertain significance
Single submitter
glaucoma 3, primary congenital, E
-
TEK p.Phe1085Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Phe725Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- TEK p.Pro171Thr Uncertain significance Single submitter
-
TEK p.Pro304Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Pro417Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Pro417Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Pro485Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Pro509Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- TEK p.Pro530Ser Uncertain significance Single submitter
-
TEK p.Pro738Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Pro813Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- TEK p.Ser1033Arg Uncertain significance Single submitter
- TEK p.Ser13Ile Uncertain significance Single submitter
-
TEK p.Ser142Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Ser17Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Ser201Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- TEK p.Ser269Ile Uncertain significance Single submitter
-
TEK p.Ser363Gly
Uncertain significance
Single submitter
multiple cutaneous and mucosal venous malformations
- TEK p.Ser440Phe Uncertain significance Single submitter
- TEK p.Ser721Gly Uncertain significance Single submitter
-
TEK p.Thr503Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Thr511Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Thr660Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Thr671Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Thr800Ala
Uncertain significance
Single submitter
multiple cutaneous and mucosal venous malformations
-
TEK p.Tyr489His
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Tyr611Cys
Uncertain significance
Single submitter
TEK-related disorder
-
TEK p.Val106Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Val146Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Val232Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Val35Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- TEK p.Val406Gly Uncertain significance Single submitter
-
TEK p.Val423Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Val453Met
Uncertain significance
Single submitter
Inborn genetic diseases
- TEK p.Val788Met Uncertain significance Single submitter
-
TEK p.Val78Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Val807Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Lys688Glu
Uncertain significance
No assertion criteria
glaucoma 3, primary congenital, E
-
TEK p.Met65Thr
Uncertain significance
No assertion criteria
TEK-related disorder
-
TEK p.Val1103Met
Uncertain significance
No assertion criteria
TEK-related disorder
Predictors split 47
The independent predictors disagree with each other — read with care.
-
TEK p.Arg849Trp
Pathogenic
Multiple submitters
TEK-related disorder
- TEK p.Gly1115Arg Uncertain significance Multiple submitters
-
TEK p.His234Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TEK p.Tyr897Asn
Pathogenic/Likely pathogenic
Multiple submitters
multiple cutaneous and mucosal venous malformations
-
TEK p.Tyr897Cys
Pathogenic
Multiple submitters
ventricular septal defect
-
TEK p.Tyr897His
Pathogenic
Multiple submitters
vascular malformation
-
TEK p.Tyr897Ser
Pathogenic/Likely pathogenic
Multiple submitters
blue rubber bleb nevus
- TEK p.Val1032Leu Uncertain significance Multiple submitters
- TEK p.Ala750Val Uncertain significance Single submitter
- TEK p.Arg535Cys Likely benign Single submitter
-
TEK p.Arg673Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Arg842Cys
Uncertain significance
Single submitter
multiple cutaneous and mucosal venous malformations
- TEK p.Arg842Leu Uncertain significance Single submitter
-
TEK p.Asn1104Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Asn464His
Conflicting
Single submitter
Inborn genetic diseases
-
TEK p.Asp587Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Cys1040Arg
Likely pathogenic
Single submitter
Segmental undergrowth associated with venous malformation without capillary component
-
TEK p.Glu1049Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- TEK p.Glu1121Lys Uncertain significance Single submitter
-
TEK p.Glu1122Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- TEK p.Glu893Gln Uncertain significance Single submitter
-
TEK p.Glu893Val
Likely pathogenic
Single submitter
TEK-related disorder
-
TEK p.Gly11Glu
Uncertain significance
Single submitter
glaucoma 3, primary congenital, E
-
TEK p.Gly286Val
Uncertain significance
Single submitter
glaucoma 3, primary congenital, E
- TEK p.Gly973Ser Uncertain significance Single submitter
- TEK p.His866Gln Likely benign Single submitter
-
TEK p.Ile1088Thr
Uncertain significance
Single submitter
glaucoma 3, primary congenital, E
-
TEK p.Ile1116Thr
Uncertain significance
Single submitter
multiple cutaneous and mucosal venous malformations
- TEK p.Ile29Thr Uncertain significance Single submitter
- TEK p.Phe1111Val Uncertain significance Single submitter
- TEK p.Phe785Leu Uncertain significance Single submitter
-
TEK p.Pro1038Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Pro126Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- TEK p.Pro166Thr Uncertain significance Single submitter
-
TEK p.Pro183Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- TEK p.Pro243Leu Uncertain significance Single submitter
- TEK p.Pro376Leu Uncertain significance Single submitter
- TEK p.Pro388Leu Uncertain significance Single submitter
-
TEK p.Pro447Leu
Uncertain significance
Single submitter
TEK-related disorder
-
TEK p.Ser13Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Ser658Tyr
Uncertain significance
Single submitter
multiple cutaneous and mucosal venous malformations
-
TEK p.Thr1037Ile
Conflicting
Single submitter
TEK-related disorder
-
TEK p.Thr1037Lys
Likely pathogenic
Single submitter
Segmental undergrowth associated with venous malformation without capillary component
- TEK p.Thr1105Asn Uncertain significance Single submitter
- TEK p.Thr1106Met Uncertain significance Single submitter
-
TEK p.Tyr860Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
TEK p.Val517Met
Uncertain significance
Single submitter
Inborn genetic diseases
All TEK variants
Pathogenic 21
- p.Arg1099Ter Multiple submitters multiple cutaneous and mucosal venous malformations
- p.Arg849Trp Multiple submitters TEK-related disorder ⚠
- p.Thr1105_Thr1106delinsAsnPro Multiple submitters vascular malformation
- p.Tyr1113Ter Multiple submitters multiple cutaneous and mucosal venous malformations
- p.Tyr897Cys Multiple submitters ventricular septal defect ⚠
- p.Tyr897His Multiple submitters vascular malformation ⚠
- p.Arg614Ter Single submitter
- p.Asn138fs Single submitter Inborn genetic diseases
- p.Gln588Ter Single submitter
- p.Gly1035Arg Single submitter
- p.Gly1115Ter Single submitter multiple cutaneous and mucosal venous malformations
- p.Leu1107_Tyr1108insTer Single submitter vascular malformation
- p.Leu914Phe Single submitter vascular malformation
- p.Lys585Ter Single submitter
- p.Thr1112_Tyr1113insTer Single submitter vascular malformation
- p.Tyr1048fs Single submitter
- p.Tyr1108Ter Single submitter multiple cutaneous and mucosal venous malformations
- p.Tyr897Phe Single submitter Venous malformation ⚠
- p.Val1021fs Single submitter
- p.Glu150Ter No assertion criteria glaucoma 3, primary congenital, E
- p.Tyr307Ter No assertion criteria glaucoma 3, primary congenital, E
Pathogenic/Likely pathogenic 7
- p.Arg915Cys Multiple submitters vascular malformation
- p.Arg915His Multiple submitters vascular malformation
- p.Arg918Cys Multiple submitters multiple cutaneous and mucosal venous malformations
- p.Gln518Ter Multiple submitters glaucoma 3, primary infantile, B
- p.Glu1109Ter Multiple submitters Segmental undergrowth associated with venous malformation without capillary component
- p.Tyr897Asn Multiple submitters multiple cutaneous and mucosal venous malformations ⚠
- p.Tyr897Ser Multiple submitters blue rubber bleb nevus ⚠
Likely pathogenic 30
- p.Leu444fs Multiple submitters glaucoma 3, primary congenital, E
- c.1490-1G>A Single submitter glaucoma 3, primary congenital, E
- c.1624+2T>A Single submitter
- c.3200+1G>A Single submitter glaucoma 3, primary congenital, E
- c.475+1G>T Single submitter glaucoma 3, primary congenital, E
- p.Arg107Ter Single submitter TEK-related disorder
- p.Cys1040Arg Single submitter Segmental undergrowth associated with venous malformation without capillary component ⚠
- p.Cys1118fs Single submitter vascular malformation
- p.Gln297Ter Single submitter
- p.Gln641Ter Single submitter
- p.Glu1109fs Single submitter multiple cutaneous and mucosal venous malformations
- p.Glu893Val Single submitter TEK-related disorder ⚠
- p.Gly831Trp Single submitter multiple cutaneous and mucosal venous malformations
- p.His52fs Single submitter glaucoma 3, primary congenital, E
- p.Lys1110fs Single submitter Venous malformation
- p.Lys145fs Single submitter glaucoma 3, primary congenital, E
- p.Lys157fs Single submitter glaucoma 3, primary congenital, E
- p.Met432fs Single submitter
- p.Ser1084Ter Single submitter glaucoma 3, primary congenital, E
- p.Ser917Ile Single submitter multiple cutaneous and mucosal venous malformations
- p.Thr1037Lys Single submitter Segmental undergrowth associated with venous malformation without capillary component ⚠
- p.Thr1105_Thr1106insTer Single submitter vascular malformation
- p.Thr1105fs Single submitter Venous malformation
- p.Thr651fs Single submitter
- p.Trp1004Ter Single submitter glaucoma 3, primary congenital, E
- p.Tyr1055Ter Single submitter glaucoma 3, primary congenital, E
- p.Tyr1108_Glu1109insValAsnThrThrLeuTyrGluLysTer Single submitter multiple cutaneous and mucosal venous malformations
- p.Tyr193Cys Single submitter glaucoma 3, primary congenital, E
- p.Tyr193fs Single submitter glaucoma 3, primary infantile, B
- p.Val429fs Single submitter glaucoma 3, primary congenital, E
Conflicting classifications of pathogenicity 14
- p.Ala925Thr Single submitter glaucoma 3, primary congenital, E ⚠
- p.Ala978Ser Single submitter Inborn genetic diseases ⚠
- p.Arg849Gln Single submitter multiple cutaneous and mucosal venous malformations
- p.Arg918His Single submitter vascular malformation ⚠
- p.Asn464His Single submitter Inborn genetic diseases ⚠
- p.Glu103Asp Single submitter glaucoma 3, primary infantile, B
- p.Ile162Phe Single submitter multiple cutaneous and mucosal venous malformations ⚠
- p.Ile463Val Single submitter Inborn genetic diseases ⚠
- p.Lys294Asn Single submitter glaucoma 3, primary congenital, E ⚠
- p.Lys89Asn Single submitter multiple cutaneous and mucosal venous malformations
- p.Thr1037Ile Single submitter TEK-related disorder ⚠
- p.Thr503Ala Single submitter multiple cutaneous and mucosal venous malformations ⚠
- p.Thr693Ile Single submitter multiple cutaneous and mucosal venous malformations ⚠
- p.Val20Ala Single submitter multiple cutaneous and mucosal venous malformations ⚠
Benign 112
- c.1327+135T>G Multiple submitters
- c.1490-157G>A Multiple submitters
- c.1624+56G>A Multiple submitters
- c.1625-31T>G Multiple submitters
- c.1909+76G>T Multiple submitters
- c.1910-91T>C Multiple submitters
- c.1910-92A>T Multiple submitters
- c.2209+17A>G Multiple submitters multiple cutaneous and mucosal venous malformations
- c.2210-107A>G Multiple submitters
- c.2210-111G>A Multiple submitters
- c.2210-204T>A Multiple submitters
- c.2210-205T>A Multiple submitters
- c.2364+172T>A Multiple submitters
- c.2575+35G>T Multiple submitters
- c.2576-262G>T Multiple submitters
- c.2877+71T>C Multiple submitters
- c.2877+8C>T Multiple submitters multiple cutaneous and mucosal venous malformations
- c.2878-113T>C Multiple submitters
- c.2991+17G>C Multiple submitters
- c.2992-164G>A Multiple submitters
- c.3062+54C>T Multiple submitters
- c.3062+66G>A Multiple submitters
- c.3062+95G>C Multiple submitters
- c.3063-49C>T Multiple submitters glaucoma 3, primary congenital, E
- c.3063-60C>A Multiple submitters
- c.3103+145A>T Multiple submitters
- c.3200+12C>G Multiple submitters multiple cutaneous and mucosal venous malformations
- c.3201-146T>G Multiple submitters
- c.3201-182A>G Multiple submitters
- c.3301-15T>C Multiple submitters multiple cutaneous and mucosal venous malformations
- c.3301-57G>A Multiple submitters
- c.365-178G>A Multiple submitters
- c.365-25G>A Multiple submitters
- c.365-60A>G Multiple submitters
- c.475+101T>C Multiple submitters
- c.760+93C>A Multiple submitters
- c.761-138A>G Multiple submitters
- c.761-140G>A Multiple submitters
- c.761-158G>T Multiple submitters
- c.761-40C>T Multiple submitters glaucoma 3, primary congenital, E
- c.901+69T>C Multiple submitters
- c.*206A>C Multiple submitters multiple cutaneous and mucosal venous malformations
- c.*314C>G Multiple submitters multiple cutaneous and mucosal venous malformations
- c.*381C>G Multiple submitters multiple cutaneous and mucosal venous malformations
- c.*52T>A Multiple submitters multiple cutaneous and mucosal venous malformations
- c.*555C>T Multiple submitters multiple cutaneous and mucosal venous malformations
- c.*556G>A Multiple submitters multiple cutaneous and mucosal venous malformations
- c.*717T>A Multiple submitters multiple cutaneous and mucosal venous malformations
- c.*922G>A Multiple submitters multiple cutaneous and mucosal venous malformations
- p.Ala46= Multiple submitters multiple cutaneous and mucosal venous malformations
- p.Ala946= Multiple submitters multiple cutaneous and mucosal venous malformations
- p.Arg774= Multiple submitters multiple cutaneous and mucosal venous malformations
- p.Asn560= Multiple submitters multiple cutaneous and mucosal venous malformations
- p.Gln346Pro Multiple submitters multiple cutaneous and mucosal venous malformations
- p.Gln698= Multiple submitters multiple cutaneous and mucosal venous malformations
- p.Gly1041= Multiple submitters multiple cutaneous and mucosal venous malformations
- p.Gly623= Multiple submitters multiple cutaneous and mucosal venous malformations
- p.Ile148Thr Multiple submitters multiple cutaneous and mucosal venous malformations
- p.Ser654= Multiple submitters glaucoma 3, primary congenital, E
- p.Thr391Ile Multiple submitters multiple cutaneous and mucosal venous malformations
- p.Tyr992= Multiple submitters multiple cutaneous and mucosal venous malformations
- p.Val486Ile Multiple submitters multiple cutaneous and mucosal venous malformations
- p.Val600Leu Multiple submitters multiple cutaneous and mucosal venous malformations
- p.Val78= Multiple submitters multiple cutaneous and mucosal venous malformations
- p.Val818= Multiple submitters multiple cutaneous and mucosal venous malformations
- c.1031-16T>C Single submitter
- c.1183-232C>T Single submitter
- c.1328-278G>T Single submitter
- c.1489+202C>T Single submitter
- c.1489+261T>C Single submitter
- c.1489+304C>T Single submitter
- c.1910-155G>A Single submitter
- c.1910-156C>T Single submitter
- c.2210-202dup Single submitter
- c.2210-204dup Single submitter
- c.2210-205_2210-204dup Single submitter
- c.2364+215G>T Single submitter
- c.2365-273A>C Single submitter
- c.2575+172A>G Single submitter
- c.2686+193G>A Single submitter
- c.2877+166G>A Single submitter
- c.2991+177C>T Single submitter
- c.2991+301G>A Single submitter
- c.2992-163_2992-160del Single submitter
- c.2992-289G>A Single submitter
- c.2992-303G>T Single submitter
- c.3062+191T>C Single submitter
- c.3062+236T>G Single submitter
- c.3062+35dup Single submitter
- c.3062+38dup Single submitter glaucoma 3, primary congenital, E
- c.3062+75_3062+79dup Single submitter
- c.3103+205C>G Single submitter
- c.3103+215_3103+233dup Single submitter
- c.3103+243G>A Single submitter
- c.3104-15C>G Single submitter multiple cutaneous and mucosal venous malformations
- c.3300+200C>T Single submitter
- c.3300+229G>A Single submitter
- c.3300+261G>A Single submitter
- c.-21G>A Single submitter multiple cutaneous and mucosal venous malformations
- c.*484C>G Single submitter multiple cutaneous and mucosal venous malformations
- c.*536C>T Single submitter multiple cutaneous and mucosal venous malformations
- c.*556G>C Single submitter multiple cutaneous and mucosal venous malformations
- c.*579T>C Single submitter multiple cutaneous and mucosal venous malformations
- p.Arg105Gln Single submitter
- p.Gln346= Single submitter
- p.Glu382= Single submitter multiple cutaneous and mucosal venous malformations
- p.His684= Single submitter multiple cutaneous and mucosal venous malformations
- p.Leu4Phe Single submitter multiple cutaneous and mucosal venous malformations
- p.Thr259Met Single submitter multiple cutaneous and mucosal venous malformations
- p.Thr932= Single submitter glaucoma 3, primary congenital, E
- p.Val578= Single submitter multiple cutaneous and mucosal venous malformations
- p.Val78Ala Single submitter
Benign/Likely benign 20
- c.3201-4G>A Multiple submitters multiple cutaneous and mucosal venous malformations
- c.365-19G>A Multiple submitters
- c.902-10C>T Multiple submitters multiple cutaneous and mucosal venous malformations
- c.*5G>A Multiple submitters
- c.*8C>T Multiple submitters
- p.Ala1123= Multiple submitters multiple cutaneous and mucosal venous malformations
- p.Ala226Val Multiple submitters multiple cutaneous and mucosal venous malformations
- p.Ala724Thr Multiple submitters multiple cutaneous and mucosal venous malformations
- p.Arg522Leu Multiple submitters multiple cutaneous and mucosal venous malformations
- p.Asn438Ser Multiple submitters multiple cutaneous and mucosal venous malformations
- p.Asn449Ser Multiple submitters multiple cutaneous and mucosal venous malformations
- p.Glu1030= Multiple submitters multiple cutaneous and mucosal venous malformations
- p.Gly743Ala Multiple submitters
- p.His400Arg Multiple submitters multiple cutaneous and mucosal venous malformations
- p.Leu1051= Multiple submitters multiple cutaneous and mucosal venous malformations
- p.Leu634Phe Multiple submitters multiple cutaneous and mucosal venous malformations
- p.Leu741= Multiple submitters
- p.Thr1105= Multiple submitters multiple cutaneous and mucosal venous malformations
- p.Thr1106= Multiple submitters
- p.Thr250= Multiple submitters
Likely benign 80
- c.2576-8C>T Multiple submitters
- p.Pro1038= Multiple submitters
- p.Tyr1102= Multiple submitters
- c.1031-15G>T Single submitter
- c.1625-11G>A Single submitter
- c.1625-7C>T Single submitter
- c.1909+18C>G Single submitter
- c.1909+20C>T Single submitter
- c.1910-6T>A Single submitter
- c.2209+15C>T Single submitter
- c.2210-16C>T Single submitter
- c.2210-18C>T Single submitter
- c.2576-15T>A Single submitter
- c.2576-6T>C Single submitter
- c.2686+8G>C Single submitter
- c.3062+17T>C Single submitter
- c.3063-12T>A Single submitter
- c.3103+11A>G Single submitter
- c.3103+17A>G Single submitter
- c.3300+10A>G Single submitter
- c.52+24dup Single submitter
- c.628+14A>G Single submitter
- c.629-13T>C Single submitter
- c.760+5G>T Single submitter multiple cutaneous and mucosal venous malformations
- c.*11del Single submitter
- p.Ala615= Single submitter
- p.Ala739= Single submitter
- p.Ala841= Single submitter
- p.Ala905= Single submitter
- p.Arg535Cys Single submitter ⚠
- p.Asn1011= Single submitter
- p.Asn138= Single submitter
- p.Asn318Ser Single submitter
- p.Asn649= Single submitter
- p.Asp397Tyr Single submitter
- p.Asp851= Single submitter
- p.Gln327= Single submitter
- p.Glu624= Single submitter
- p.Glu91= Single submitter
- p.Gly286= Single submitter
- p.Gly305= Single submitter
- p.Gly374= Single submitter
- p.Gly431= Single submitter
- p.Gly472= Single submitter
- p.Gly742Arg Single submitter
- p.His866Gln Single submitter ⚠
- p.Ile650= Single submitter
- p.Ile657= Single submitter
- p.Leu1028= Single submitter
- p.Leu1034= Single submitter
- p.Leu1096= Single submitter
- p.Leu338= Single submitter
- p.Leu597= Single submitter
- p.Leu760= Single submitter
- p.Leu873= Single submitter
- p.Leu889= Single submitter
- p.Leu920= Single submitter
- p.Lys1059= Single submitter
- p.Lys294Gln Single submitter
- p.Lys351= Single submitter
- p.Phe960= Single submitter
- p.Pro304Leu Single submitter
- p.Pro388= Single submitter
- p.Pro723= Single submitter
- p.Pro738Arg Single submitter
- p.Ser123= Single submitter
- p.Ser201= Single submitter
- p.Ser425Asn Single submitter
- p.Ser569Thr Single submitter
- p.Ser570= Single submitter
- p.Thr1016= Single submitter
- p.Thr379Ala Single submitter Inborn genetic diseases
- p.Thr671Ile Single submitter Inborn genetic diseases
- p.Tyr611= Single submitter
- p.Tyr904= Single submitter
- p.Val1103= Single submitter
- p.Val710Met Single submitter
- c.2878-8A>C No assertion criteria TEK-related disorder
- c.761-14_761-10del No assertion criteria TEK-related disorder
- p.Pro71= No assertion criteria TEK-related disorder
Uncertain significance 212
- c.*287C>T Multiple submitters multiple cutaneous and mucosal venous malformations
- p.Ala621Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala945Ser Multiple submitters ⚠
- p.Ala945Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg1076Trp Multiple submitters multiple cutaneous and mucosal venous malformations ⚠
- p.Arg119His Multiple submitters Inborn genetic diseases ⚠
- p.Arg673His Multiple submitters Inborn genetic diseases ⚠
- p.Asn299Asp Multiple submitters Inborn genetic diseases ⚠
- p.Asn499Ser Multiple submitters multiple cutaneous and mucosal venous malformations ⚠
- p.Glu790Gly Multiple submitters multiple cutaneous and mucosal venous malformations ⚠
- p.Gly1115Arg Multiple submitters ⚠
- p.Gly743Arg Multiple submitters Inborn genetic diseases ⚠
- p.His234Arg Multiple submitters Inborn genetic diseases ⚠
- p.His458Pro Multiple submitters Inborn genetic diseases ⚠
- p.Leu955Phe Multiple submitters multiple cutaneous and mucosal venous malformations ⚠
- p.Lys435Gln Multiple submitters Inborn genetic diseases ⚠
- p.Met432Leu Multiple submitters Inborn genetic diseases ⚠
- p.Phe471Leu Multiple submitters Inborn genetic diseases ⚠
- p.Tyr513Cys Multiple submitters Inborn genetic diseases ⚠
- p.Val1032Leu Multiple submitters ⚠
- p.Val612Met Multiple submitters Inborn genetic diseases ⚠
- p.Val86Ile Multiple submitters multiple cutaneous and mucosal venous malformations ⚠
- c.1030+6G>A Single submitter
- c.1031-5T>G Single submitter
- c.1490-48_1490-17del Single submitter
- c.1490-7T>C Single submitter
- c.1909+5G>C Single submitter
- c.2575+3C>T Single submitter multiple cutaneous and mucosal venous malformations
- c.2575+4A>G Single submitter multiple cutaneous and mucosal venous malformations
- c.365-5A>G Single submitter multiple cutaneous and mucosal venous malformations
- c.475+20_475+41del Single submitter
- c.-326A>G Single submitter multiple cutaneous and mucosal venous malformations
- c.-354A>G Single submitter multiple cutaneous and mucosal venous malformations
- c.-96G>A Single submitter multiple cutaneous and mucosal venous malformations
- c.*230T>C Single submitter multiple cutaneous and mucosal venous malformations
- c.*257T>A Single submitter multiple cutaneous and mucosal venous malformations
- c.*330A>G Single submitter multiple cutaneous and mucosal venous malformations
- c.*558T>C Single submitter multiple cutaneous and mucosal venous malformations
- c.*674G>A Single submitter multiple cutaneous and mucosal venous malformations
- c.*684C>A Single submitter multiple cutaneous and mucosal venous malformations
- c.*708G>A Single submitter multiple cutaneous and mucosal venous malformations
- c.*862G>C Single submitter multiple cutaneous and mucosal venous malformations
- c.*904T>G Single submitter multiple cutaneous and mucosal venous malformations
- p.Ala1123Val Single submitter Inborn genetic diseases
- p.Ala202Gly Single submitter ⚠
- p.Ala46Val Single submitter multiple cutaneous and mucosal venous malformations ⚠
- p.Ala739Val Single submitter Inborn genetic diseases ⚠
- p.Ala750Val Single submitter ⚠
- p.Ala775Glu Single submitter Inborn genetic diseases ⚠
- p.Ala793Val Single submitter Inborn genetic diseases ⚠
- p.Ala802Thr Single submitter Inborn genetic diseases ⚠
- p.Ala83Ser Single submitter Inborn genetic diseases ⚠
- p.Ala861_Ser862delinsAspLeuTrpArgPro Single submitter
- p.Ala93Ser Single submitter Inborn genetic diseases ⚠
- p.Arg1003His Single submitter ⚠
- p.Arg107Gln Single submitter Inborn genetic diseases ⚠
- p.Arg413Gln Single submitter Inborn genetic diseases ⚠
- p.Arg413Trp Single submitter ⚠
- p.Arg50Cys Single submitter Inborn genetic diseases ⚠
- p.Arg535His Single submitter Inborn genetic diseases ⚠
- p.Arg673Cys Single submitter Inborn genetic diseases ⚠
- p.Arg842Cys Single submitter multiple cutaneous and mucosal venous malformations ⚠
- p.Arg842Leu Single submitter ⚠
- p.Arg950Gly Single submitter Inborn genetic diseases ⚠
- p.Arg987Gln Single submitter ⚠
- p.Asn1093Ser Single submitter ⚠
- p.Asn1104Ile Single submitter Inborn genetic diseases ⚠
- p.Asn140Ile Single submitter ⚠
- p.Asn140Lys Single submitter Inborn genetic diseases ⚠
- p.Asn452Asp Single submitter ⚠
- p.Asn680= Single submitter multiple cutaneous and mucosal venous malformations
- p.Asn722Ser Single submitter Inborn genetic diseases ⚠
- p.Asn887Ser Single submitter neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Asp172His Single submitter Inborn genetic diseases ⚠
- p.Asp236Asn Single submitter Inborn genetic diseases ⚠
- p.Asp587Asn Single submitter Inborn genetic diseases ⚠
- p.Asp587Gly Single submitter Inborn genetic diseases ⚠
- p.Asp868= Single submitter multiple cutaneous and mucosal venous malformations
- p.Gln1053His Single submitter ⚠
- p.Gln121Glu Single submitter Inborn genetic diseases ⚠
- p.Gln182His Single submitter glaucoma 3, primary infantile, B ⚠
- p.Gln346Ser Single submitter multiple cutaneous and mucosal venous malformations
- p.Gln622His Single submitter Inborn genetic diseases ⚠
- p.Gln709Lys Single submitter multiple cutaneous and mucosal venous malformations ⚠
- p.Glu1049Lys Single submitter Inborn genetic diseases ⚠
- p.Glu1121Lys Single submitter ⚠
- p.Glu1122Lys Single submitter Inborn genetic diseases ⚠
- p.Glu150Lys Single submitter Inborn genetic diseases ⚠
- p.Glu151del Single submitter TEK-related disorder
- p.Glu524Lys Single submitter multiple cutaneous and mucosal venous malformations ⚠
- p.Glu53Val Single submitter Inborn genetic diseases ⚠
- p.Glu609Lys Single submitter Inborn genetic diseases ⚠
- p.Glu627Lys Single submitter Inborn genetic diseases ⚠
- p.Glu715Asp Single submitter Inborn genetic diseases ⚠
- p.Glu791Asp Single submitter Inborn genetic diseases
- p.Glu893Gln Single submitter ⚠
- p.Glu91Gln Single submitter Inborn genetic diseases ⚠
- p.Gly11Glu Single submitter glaucoma 3, primary congenital, E ⚠
- p.Gly217Glu Single submitter ⚠
- p.Gly270Glu Single submitter Inborn genetic diseases ⚠
- p.Gly286Val Single submitter glaucoma 3, primary congenital, E ⚠
- p.Gly308Arg Single submitter glaucoma 3, primary congenital, E ⚠
- p.Gly320Glu Single submitter ⚠
- p.Gly678Ser Single submitter Inborn genetic diseases ⚠
- p.Gly973Ser Single submitter ⚠
- p.His222Leu Single submitter Inborn genetic diseases ⚠
- p.His412= Single submitter multiple cutaneous and mucosal venous malformations
- p.His684Tyr Single submitter Inborn genetic diseases ⚠
- p.His894Tyr Single submitter
- p.His907Arg Single submitter Inborn genetic diseases
- p.His943Tyr Single submitter multiple cutaneous and mucosal venous malformations ⚠
- p.Ile1088Thr Single submitter glaucoma 3, primary congenital, E ⚠
- p.Ile1116Thr Single submitter multiple cutaneous and mucosal venous malformations ⚠
- p.Ile29Thr Single submitter ⚠
- p.Ile352Thr Single submitter Inborn genetic diseases ⚠
- p.Ile359Leu Single submitter Inborn genetic diseases ⚠
- p.Ile414Leu Single submitter ⚠
- p.Ile454Met Single submitter multiple cutaneous and mucosal venous malformations ⚠
- p.Ile541Val Single submitter Inborn genetic diseases ⚠
- p.Ile650Thr Single submitter ⚠
- p.Ile670Val Single submitter Inborn genetic diseases ⚠
- p.Ile768Met Single submitter Inborn genetic diseases ⚠
- p.Ile815Thr Single submitter multiple cutaneous and mucosal venous malformations ⚠
- p.Ile815Val Single submitter Inborn genetic diseases ⚠
- p.Ile902Met Single submitter
- p.Leu1061Arg Single submitter Inborn genetic diseases ⚠
- p.Leu1070Ile Single submitter Inborn genetic diseases ⚠
- p.Leu338Ile Single submitter Inborn genetic diseases ⚠
- p.Leu34Val Single submitter Inborn genetic diseases ⚠
- p.Leu393Phe Single submitter Inborn genetic diseases ⚠
- p.Leu482= Single submitter multiple cutaneous and mucosal venous malformations
- p.Leu515Ile Single submitter ⚠
- p.Leu629Phe Single submitter multiple cutaneous and mucosal venous malformations ⚠
- p.Leu732Val Single submitter Inborn genetic diseases ⚠
- p.Leu752Phe Single submitter Inborn genetic diseases ⚠
- p.Leu763Met Single submitter multiple cutaneous and mucosal venous malformations ⚠
- p.Leu764Trp Single submitter Inborn genetic diseases ⚠
- p.Leu942Phe Single submitter Inborn genetic diseases ⚠
- p.Lys215Arg Single submitter ⚠
- p.Lys396Glu Single submitter ⚠
- p.Lys479Arg Single submitter Inborn genetic diseases ⚠
- p.Lys745Arg Single submitter Inborn genetic diseases ⚠
- p.Lys806Glu Single submitter Inborn genetic diseases ⚠
- p.Lys808Glu Single submitter Inborn genetic diseases ⚠
- p.Lys825Arg Single submitter glaucoma 3, primary infantile, B ⚠
- p.Met247Thr Single submitter Inborn genetic diseases ⚠
- p.Met322Val Single submitter Inborn genetic diseases ⚠
- p.Met348Val Single submitter Inborn genetic diseases ⚠
- p.Met952Val Single submitter glaucoma 3, primary congenital, E ⚠
- p.Phe1085Val Single submitter Inborn genetic diseases ⚠
- p.Phe1111Val Single submitter ⚠
- p.Phe725Ser Single submitter Inborn genetic diseases ⚠
- p.Phe785Leu Single submitter ⚠
- p.Pro1038Ala Single submitter Inborn genetic diseases ⚠
- p.Pro126Ser Single submitter Inborn genetic diseases ⚠
- p.Pro166Thr Single submitter ⚠
- p.Pro171Thr Single submitter ⚠
- p.Pro183Leu Single submitter Inborn genetic diseases ⚠
- p.Pro243Leu Single submitter ⚠
- p.Pro304Ala Single submitter Inborn genetic diseases ⚠
- p.Pro376Leu Single submitter ⚠
- p.Pro388Leu Single submitter ⚠
- p.Pro417Ala Single submitter Inborn genetic diseases ⚠
- p.Pro417Thr Single submitter Inborn genetic diseases ⚠
- p.Pro447Leu Single submitter TEK-related disorder ⚠
- p.Pro485Ser Single submitter Inborn genetic diseases ⚠
- p.Pro509Thr Single submitter Inborn genetic diseases ⚠
- p.Pro530Ser Single submitter ⚠
- p.Pro738Leu Single submitter Inborn genetic diseases ⚠
- p.Pro813Ala Single submitter Inborn genetic diseases ⚠
- p.Pro906= Single submitter multiple cutaneous and mucosal venous malformations
- p.Ser1033= Single submitter multiple cutaneous and mucosal venous malformations
- p.Ser1033Arg Single submitter ⚠
- p.Ser13Arg Single submitter Inborn genetic diseases ⚠
- p.Ser13Ile Single submitter ⚠
- p.Ser142Thr Single submitter Inborn genetic diseases ⚠
- p.Ser17Cys Single submitter Inborn genetic diseases ⚠
- p.Ser201Thr Single submitter Inborn genetic diseases ⚠
- p.Ser269Ile Single submitter ⚠
- p.Ser363Gly Single submitter multiple cutaneous and mucosal venous malformations ⚠
- p.Ser41Phe Single submitter Inborn genetic diseases
- p.Ser440Phe Single submitter ⚠
- p.Ser658Tyr Single submitter multiple cutaneous and mucosal venous malformations ⚠
- p.Ser721Gly Single submitter ⚠
- p.Ser754Cys Single submitter Inborn genetic diseases
- p.Ser938= Single submitter multiple cutaneous and mucosal venous malformations
- p.Thr1105Asn Single submitter ⚠
- p.Thr1106Met Single submitter ⚠
- p.Thr401= Single submitter
- p.Thr503Ile Single submitter Inborn genetic diseases ⚠
- p.Thr511Arg Single submitter Inborn genetic diseases ⚠
- p.Thr660Ala Single submitter Inborn genetic diseases ⚠
- p.Thr671Asn Single submitter Inborn genetic diseases ⚠
- p.Thr800Ala Single submitter multiple cutaneous and mucosal venous malformations ⚠
- p.Trp82Arg Single submitter Inborn genetic diseases
- p.Tyr489His Single submitter Inborn genetic diseases ⚠
- p.Tyr611Cys Single submitter TEK-related disorder ⚠
- p.Tyr860Cys Single submitter Inborn genetic diseases ⚠
- p.Val106Ile Single submitter Inborn genetic diseases ⚠
- p.Val146Glu Single submitter Inborn genetic diseases ⚠
- p.Val232Ala Single submitter Inborn genetic diseases ⚠
- p.Val35Leu Single submitter Inborn genetic diseases ⚠
- p.Val406Gly Single submitter ⚠
- p.Val423Phe Single submitter Inborn genetic diseases ⚠
- p.Val453Met Single submitter Inborn genetic diseases ⚠
- p.Val517Met Single submitter Inborn genetic diseases ⚠
- p.Val788Met Single submitter ⚠
- p.Val78Met Single submitter Inborn genetic diseases ⚠
- p.Val807Asp Single submitter Inborn genetic diseases ⚠
- p.Lys688Glu No assertion criteria glaucoma 3, primary congenital, E ⚠
- p.Met65Thr No assertion criteria TEK-related disorder ⚠
- p.Val1103Met No assertion criteria TEK-related disorder ⚠