VSX2 — 484 ClinVar variants
All ClinVar germline VSX2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 102 flagged for review →
25 Pathogenic · 6 Pathogenic/Likely pathogenic · 17 Likely pathogenic · 19 Conflicting · 37 Benign · 5 Benign/Likely benign · 230 Likely benign · 145 Uncertain significance
Full VSX2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 102
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 agree, ClinVar conflicts 5
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
VSX2 p.Arg288Trp
Conflicting
Single submitter
isolated microphthalmia 2
-
VSX2 p.Asp54Glu
Conflicting
Single submitter
isolated microphthalmia 2
-
VSX2 p.Gly82Arg
Conflicting
Single submitter
isolated microphthalmia 2
-
VSX2 p.Pro100Gln
Conflicting
Single submitter
isolated microphthalmia 2
-
VSX2 p.Val103Ala
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 81
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
VSX2 p.Ala217Val
Uncertain significance
Multiple submitters
isolated microphthalmia 2
-
VSX2 p.Arg178Gln
Uncertain significance
Multiple submitters
microphthalmia, isolated, with coloboma 3
-
VSX2 p.Arg199His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
VSX2 p.Arg274His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
VSX2 p.Arg288Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
VSX2 p.Arg332Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
VSX2 p.Pro45Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
VSX2 p.Ala201Asp
Uncertain significance
Single submitter
microphthalmia, isolated, with coloboma 3
-
VSX2 p.Ala217Pro
Uncertain significance
Single submitter
microphthalmia, isolated, with coloboma 3
-
VSX2 p.Ala292Pro
Uncertain significance
Single submitter
isolated microphthalmia 2
-
VSX2 p.Ala294Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
VSX2 p.Ala313Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
VSX2 p.Ala342Val
Uncertain significance
Single submitter
isolated microphthalmia 2
-
VSX2 p.Ala57Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
VSX2 p.Arg206Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
VSX2 p.Arg212Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
VSX2 p.Arg268Lys
Uncertain significance
Single submitter
isolated microphthalmia 2
-
VSX2 p.Arg268Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
VSX2 p.Arg274Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
VSX2 p.Arg274Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
VSX2 p.Arg310Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
VSX2 p.Arg347Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
VSX2 p.Arg351Gly
Uncertain significance
Single submitter
isolated microphthalmia 2
-
VSX2 p.Asn141Tyr
Uncertain significance
Single submitter
isolated microphthalmia 2
-
VSX2 p.Asp116Asn
Uncertain significance
Single submitter
isolated microphthalmia 2
-
VSX2 p.Asp99Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- VSX2 p.Gln101Pro Uncertain significance Single submitter
-
VSX2 p.Gln119His
Uncertain significance
Single submitter
Inborn genetic diseases
-
VSX2 p.Glu169Lys
Uncertain significance
Single submitter
isolated microphthalmia 2
-
VSX2 p.Glu271Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
VSX2 p.Glu287Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
VSX2 p.Glu335Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
VSX2 p.Glu339Asp
Uncertain significance
Single submitter
isolated microphthalmia 2
-
VSX2 p.Gly55Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
VSX2 p.Gly83Val
Uncertain significance
Single submitter
Inborn genetic diseases
- VSX2 p.Ile192Met Uncertain significance Single submitter
-
VSX2 p.Leu140Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
VSX2 p.Leu357Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
VSX2 p.Lys19Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
VSX2 p.Lys208Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
VSX2 p.Lys336Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
VSX2 p.Met180Thr
Uncertain significance
Single submitter
isolated microphthalmia 2
-
VSX2 p.Met183Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
VSX2 p.Met283Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
VSX2 p.Met76Val
Uncertain significance
Single submitter
Inborn genetic diseases
- VSX2 p.Pro231Ser Uncertain significance Single submitter
- VSX2 p.Pro348Leu Uncertain significance Single submitter
-
VSX2 p.Pro355Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
VSX2 p.Pro49Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
VSX2 p.Pro81Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
VSX2 p.Ser102Arg
Uncertain significance
Single submitter
microphthalmia, isolated, with coloboma 3
-
VSX2 p.Ser213Asn
Uncertain significance
Single submitter
isolated microphthalmia 2
-
VSX2 p.Ser259Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
VSX2 p.Ser266Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
VSX2 p.Thr156Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
VSX2 p.Thr323Ala
Uncertain significance
Single submitter
isolated microphthalmia 2
-
VSX2 p.Thr89Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
VSX2 p.Thr92Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
VSX2 p.Trp210Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
VSX2 p.Tyr172Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
VSX2 p.Tyr222His
Uncertain significance
Single submitter
Inborn genetic diseases
-
VSX2 p.Val96Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
VSX2 p.Ala18Val
Uncertain significance
No assertion criteria
microphthalmia
-
VSX2 p.Ala262Pro
Uncertain significance
No assertion criteria
microphthalmia
-
VSX2 p.Ala71Val
Uncertain significance
No assertion criteria
microphthalmia
-
VSX2 p.Arg152Lys
Uncertain significance
No assertion criteria
retinitis pigmentosa
-
VSX2 p.Glu15Asp
Uncertain significance
No assertion criteria
microphthalmia
-
VSX2 p.Glu186Asp
Uncertain significance
No assertion criteria
microphthalmia
-
VSX2 p.Gly109Arg
Uncertain significance
No assertion criteria
microphthalmia
-
VSX2 p.Gly289Asp
Uncertain significance
No assertion criteria
microphthalmia, isolated, with coloboma 3
-
VSX2 p.Gly83Glu
Uncertain significance
No assertion criteria
microphthalmia
-
VSX2 p.Ile236Thr
Uncertain significance
No assertion criteria
microphthalmia
-
VSX2 p.Lys336Gln
Uncertain significance
No assertion criteria
microphthalmia
-
VSX2 p.Lys4Asn
Uncertain significance
No assertion criteria
microphthalmia
-
VSX2 p.Pro58His
Uncertain significance
No assertion criteria
microphthalmia
-
VSX2 p.Pro85Ser
Uncertain significance
No assertion criteria
microphthalmia
-
VSX2 p.Ser157Phe
Uncertain significance
No assertion criteria
microphthalmia
-
VSX2 p.Ser46Arg
Uncertain significance
No assertion criteria
microphthalmia
-
VSX2 p.Thr318Ala
Uncertain significance
No assertion criteria
microphthalmia
-
VSX2 p.Val194Leu
Uncertain significance
No assertion criteria
microphthalmia
-
VSX2 p.Val308Met
Uncertain significance
No assertion criteria
microphthalmia
Predictors split 16
The independent predictors disagree with each other — read with care.
-
VSX2 p.Arg206Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
VSX2 p.Glu161Asp
Uncertain significance
Multiple submitters
VSX2-related disorder
-
VSX2 p.Arg65Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
VSX2 p.Gln35Arg
Uncertain significance
Single submitter
isolated microphthalmia 2
-
VSX2 p.Glu218Asp
Uncertain significance
Single submitter
isolated microphthalmia 2
- VSX2 p.Gly31Arg Likely pathogenic Single submitter
-
VSX2 p.Gly3Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
VSX2 p.Gly3Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
VSX2 p.Gly72Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
VSX2 p.Ile154Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
VSX2 p.Ile306Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
VSX2 p.Lys137Glu
Uncertain significance
Single submitter
isolated microphthalmia 2
-
VSX2 p.Lys319Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
VSX2 p.Pro91Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
VSX2 p.Pro91Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
VSX2 p.Val194Ile
Uncertain significance
Single submitter
Inborn genetic diseases
All VSX2 variants
Pathogenic 25
- c.371-1G>A Multiple submitters microphthalmia
- p.Ala25fs Multiple submitters Anophthalmia-microphthalmia syndrome
- p.Arg200Gln Multiple submitters microphthalmia
- p.Arg200Ter Multiple submitters microphthalmia
- c.371-2A>C Single submitter microphthalmia
- p.Ala139_Leu140insTer Single submitter isolated microphthalmia 2
- p.Ala18fs Single submitter isolated microphthalmia 2
- p.Ala71fs Single submitter isolated microphthalmia 2
- p.Arg133Ter Single submitter isolated microphthalmia 2
- p.Arg212fs Single submitter isolated microphthalmia 2
- p.Arg28fs Single submitter isolated microphthalmia 2
- p.Gln106Ter Single submitter microphthalmia, isolated, with coloboma 3
- p.Glu7fs Single submitter isolated microphthalmia 2
- p.Gly223Arg Single submitter isolated microphthalmia 2
- p.Gly75fs Single submitter isolated microphthalmia 2
- p.Gly83fs Single submitter isolated microphthalmia 2
- p.His60fs Single submitter isolated microphthalmia 2
- p.Leu56fs Single submitter isolated microphthalmia 2
- p.Leu84fs Single submitter isolated microphthalmia 2
- p.Lys147fs Single submitter isolated microphthalmia 2
- p.Ser20fs Single submitter isolated microphthalmia 2
- p.Thr2fs Single submitter isolated microphthalmia 2
- p.Trp203Ter Single submitter isolated microphthalmia 2
- p.Tyr172fs Single submitter isolated microphthalmia 2
- p.Tyr88Ter Single submitter isolated microphthalmia 2
Pathogenic/Likely pathogenic 6
- p.Arg200Pro Multiple submitters isolated microphthalmia 2
- p.Arg227Trp Multiple submitters VSX2-related Microphthalmia
- p.Cys29Ter Multiple submitters microphthalmia, isolated, with coloboma 3
- p.Gln197Ter Multiple submitters microphthalmia
- p.Gln90fs Multiple submitters microphthalmia, isolated, with coloboma 3
- p.Trp195Ter Multiple submitters isolated microphthalmia 2
Likely pathogenic 17
- p.Leu232fs Multiple submitters microphthalmia
- c.455+1G>A Single submitter isolated microphthalmia 2
- c.456-6C>G Single submitter isolated microphthalmia 2
- c.580-1G>C Single submitter isolated microphthalmia 2
- c.580-2A>C Single submitter isolated microphthalmia 2
- c.760+1del Single submitter microphthalmia
- p.Ala111fs Single submitter microphthalmia, isolated, with coloboma 3
- p.Arg227_His228insArg Single submitter VSX2-related disorder
- p.Asp291fs Single submitter microphthalmia
- p.Glu36Ter Single submitter isolated microphthalmia 2
- p.Gly31Arg Single submitter ⚠
- p.Met1Thr Single submitter isolated microphthalmia 2
- p.Pro354fs Single submitter microphthalmia
- p.Ser325fs Single submitter microphthalmia
- p.Ter362Tyr Single submitter microphthalmia
- p.Tyr222fs Single submitter
- p.Val103fs Single submitter isolated microphthalmia 2
Conflicting classifications of pathogenicity 19
- c.371-14C>T Single submitter isolated microphthalmia 2
- c.760+11G>A Single submitter isolated microphthalmia 2
- c.*1161C>A Single submitter isolated microphthalmia 2
- c.*1252C>T Single submitter microphthalmia, isolated, with coloboma 3
- c.*1311G>A Single submitter isolated microphthalmia 2
- c.*1377C>T Single submitter isolated microphthalmia 2
- c.*291A>T Single submitter microphthalmia, isolated, with coloboma 3
- c.*54G>A Single submitter microphthalmia, isolated, with coloboma 3
- p.Arg288Trp Single submitter isolated microphthalmia 2 ⚠
- p.Asn168= Single submitter isolated microphthalmia 2
- p.Asp54Glu Single submitter isolated microphthalmia 2 ⚠
- p.Gln193= Single submitter isolated microphthalmia 2
- p.Gly82Arg Single submitter isolated microphthalmia 2 ⚠
- p.Lys238= Single submitter isolated microphthalmia 2
- p.Pro100Gln Single submitter isolated microphthalmia 2 ⚠
- p.Pro250= Single submitter microphthalmia, isolated, with coloboma 3
- p.Ser259= Single submitter isolated microphthalmia 2
- p.Ser266= Single submitter isolated microphthalmia 2
- p.Val103Ala Single submitter Inborn genetic diseases ⚠
Benign 37
- c.456-157C>G Multiple submitters
- c.456-163G>C Multiple submitters
- c.456-182A>T Multiple submitters
- c.456-184T>A Multiple submitters
- c.760+149C>T Multiple submitters
- c.760+225A>G Multiple submitters
- c.760+86G>A Multiple submitters
- c.*1302G>A Multiple submitters isolated microphthalmia 2
- c.*455C>T Multiple submitters isolated microphthalmia 2
- c.*579C>T Multiple submitters isolated microphthalmia 2
- p.Asp291Asn Multiple submitters isolated microphthalmia 2
- p.Glu341dup Multiple submitters isolated microphthalmia 2
- p.Ser157= Multiple submitters isolated microphthalmia 2
- c.455+11del Single submitter isolated microphthalmia 2
- c.455+175G>C Single submitter
- c.455+216C>T Single submitter
- c.456-11G>T Single submitter isolated microphthalmia 2
- c.456-140_456-139insCA Single submitter
- c.456-157_456-156del Single submitter
- c.456-162_456-161insCA Single submitter
- c.456-183GA[12] Single submitter
- c.456-190_456-181del Single submitter
- c.456-219GT[14] Single submitter
- c.456-219GT[15] Single submitter
- c.456-219GT[17] Single submitter
- c.456-221A>G Single submitter
- c.456-233A>G Single submitter
- c.456-238T>A Single submitter
- c.456-240T>A Single submitter
- c.456-242T>A Single submitter
- c.456-283GT[20] Single submitter
- c.456-283GT[21] Single submitter
- c.456-283GT[22] Single submitter
- c.456-283GT[23] Single submitter
- c.579+276G>A Single submitter
- c.760+209A>C Single submitter
- c.760+33dup Single submitter
Benign/Likely benign 5
- c.*1074C>T Multiple submitters isolated microphthalmia 2
- c.*39C>T Multiple submitters microphthalmia, isolated, with coloboma 3
- p.Asp174= Multiple submitters isolated microphthalmia 2
- p.Leu277= Multiple submitters isolated microphthalmia 2
- c.*670G>A Single submitter isolated microphthalmia 2
Likely benign 230
- c.371-99G>A Multiple submitters
- c.456-161G>C Multiple submitters
- c.456-165G>C Multiple submitters
- c.580-44G>A Multiple submitters
- c.580-45A>C Multiple submitters
- c.760+74C>G Multiple submitters
- c.*1212G>A Multiple submitters isolated microphthalmia 2
- c.*261G>T Multiple submitters microphthalmia, isolated, with coloboma 3
- c.370+10G>A Single submitter isolated microphthalmia 2
- c.370+13A>G Single submitter isolated microphthalmia 2
- c.370+15G>A Single submitter isolated microphthalmia 2
- c.370+17dup Single submitter isolated microphthalmia 2
- c.370+18G>A Single submitter isolated microphthalmia 2
- c.370+20G>C Single submitter isolated microphthalmia 2
- c.370+301G>A Single submitter
- c.370+9G>C Single submitter isolated microphthalmia 2
- c.371-10C>T Single submitter isolated microphthalmia 2
- c.371-12C>T Single submitter isolated microphthalmia 2
- c.371-13G>T Single submitter isolated microphthalmia 2
- c.371-18C>T Single submitter isolated microphthalmia 2
- c.371-19C>T Single submitter isolated microphthalmia 2
- c.371-9G>T Single submitter isolated microphthalmia 2
- c.455+10C>T Single submitter isolated microphthalmia 2
- c.455+12G>T Single submitter isolated microphthalmia 2
- c.455+15_455+18del Single submitter isolated microphthalmia 2
- c.455+7C>A Single submitter isolated microphthalmia 2
- c.455+7C>T Single submitter isolated microphthalmia 2
- c.455+8C>T Single submitter isolated microphthalmia 2
- c.456-14C>T Single submitter isolated microphthalmia 2
- c.456-156AG[11] Single submitter
- c.456-156AG[6] Single submitter
- c.456-157_456-154del Single submitter
- c.456-16G>A Single submitter isolated microphthalmia 2
- c.456-183GA[10] Single submitter
- c.456-183GA[14] Single submitter
- c.456-186_456-181del Single submitter
- c.456-188_456-177del Single submitter
- c.456-18C>T Single submitter isolated microphthalmia 2
- c.456-190_456-177del Single submitter
- c.456-212T>A Single submitter
- c.456-214T>A Single submitter
- c.456-216T>A Single submitter
- c.456-218T>A Single submitter
- c.456-219GT[10] Single submitter
- c.456-219GT[16] Single submitter
- c.456-233A>C Single submitter
- c.456-244_456-243insAAA Single submitter
- c.456-244T>A Single submitter
- c.456-246_456-173del Single submitter
- c.456-246T>A Single submitter
- c.456-283GT[15] Single submitter
- c.456-7C>T Single submitter isolated microphthalmia 2
- c.456-9T>C Single submitter isolated microphthalmia 2
- c.579+10C>T Single submitter isolated microphthalmia 2
- c.579+11T>C Single submitter isolated microphthalmia 2
- c.579+12G>T Single submitter isolated microphthalmia 2
- c.579+13A>C Single submitter isolated microphthalmia 2
- c.579+14G>A Single submitter isolated microphthalmia 2
- c.579+14G>T Single submitter isolated microphthalmia 2
- c.579+17C>A Single submitter isolated microphthalmia 2
- c.579+17C>G Single submitter isolated microphthalmia 2
- c.579+20C>T Single submitter isolated microphthalmia 2
- c.579+8C>A Single submitter isolated microphthalmia 2
- c.579+9C>A Single submitter isolated microphthalmia 2
- c.580-12G>A Single submitter isolated microphthalmia 2
- c.580-12G>T Single submitter isolated microphthalmia 2
- c.580-7C>T Single submitter isolated microphthalmia 2
- c.580-8A>G Single submitter isolated microphthalmia 2
- c.760+10C>G Single submitter isolated microphthalmia 2
- c.760+10C>T Single submitter isolated microphthalmia 2
- c.760+12C>T Single submitter isolated microphthalmia 2
- c.760+15C>T Single submitter isolated microphthalmia 2
- c.760+18C>T Single submitter isolated microphthalmia 2
- c.760+20T>C Single submitter isolated microphthalmia 2
- c.760+7G>A Single submitter isolated microphthalmia 2
- c.760+9C>T Single submitter isolated microphthalmia 2
- c.761-11A>C Single submitter isolated microphthalmia 2
- c.761-13C>A Single submitter isolated microphthalmia 2
- c.-46G>C Single submitter microphthalmia, isolated, with coloboma 3
- c.*1585A>C Single submitter isolated microphthalmia 2
- c.*1803A>C Single submitter isolated microphthalmia 2
- p.Ala177= Single submitter isolated microphthalmia 2
- p.Ala201= Single submitter isolated microphthalmia 2
- p.Ala217= Single submitter isolated microphthalmia 2
- p.Ala240= Single submitter isolated microphthalmia 2
- p.Ala264= Single submitter isolated microphthalmia 2
- p.Ala294= Single submitter isolated microphthalmia 2
- p.Ala295= Single submitter isolated microphthalmia 2
- p.Ala307= Single submitter isolated microphthalmia 2
- p.Ala313= Single submitter isolated microphthalmia 2
- p.Ala342= Single submitter isolated microphthalmia 2
- p.Ala349= Single submitter isolated microphthalmia 2
- p.Ala349Val Single submitter isolated microphthalmia 2
- p.Ala361= Single submitter isolated microphthalmia 2
- p.Ala52= Single submitter isolated microphthalmia 2
- p.Ala57= Single submitter isolated microphthalmia 2
- p.Ala63= Single submitter isolated microphthalmia 2
- p.Ala64= Single submitter isolated microphthalmia 2
- p.Ala71= Single submitter isolated microphthalmia 2
- p.Ala8= Single submitter isolated microphthalmia 2
- p.Arg133= Single submitter isolated microphthalmia 2
- p.Arg149= Single submitter isolated microphthalmia 2
- p.Arg150= Single submitter isolated microphthalmia 2
- p.Arg199= Single submitter isolated microphthalmia 2
- p.Arg200= Single submitter isolated microphthalmia 2
- p.Arg204= Single submitter isolated microphthalmia 2
- p.Arg206= Single submitter isolated microphthalmia 2
- p.Arg212= Single submitter isolated microphthalmia 2
- p.Arg268= Single submitter isolated microphthalmia 2
- p.Arg274= Single submitter isolated microphthalmia 2
- p.Arg28= Single submitter isolated microphthalmia 2
- p.Arg302= Single submitter isolated microphthalmia 2
- p.Arg310= Single submitter isolated microphthalmia 2
- p.Arg332= Single submitter isolated microphthalmia 2
- p.Arg50= Single submitter isolated microphthalmia 2
- p.Arg65= Single submitter isolated microphthalmia 2
- p.Asp132= Single submitter isolated microphthalmia 2
- p.Asp190= Single submitter isolated microphthalmia 2
- p.Asp286= Single submitter isolated microphthalmia 2
- p.Asp291= Single submitter isolated microphthalmia 2
- p.Asp54= Single submitter isolated microphthalmia 2
- p.Asp99= Single submitter isolated microphthalmia 2
- p.Cys209= Single submitter isolated microphthalmia 2
- p.Gln106= Single submitter isolated microphthalmia 2
- p.Gln35= Single submitter isolated microphthalmia 2
- p.Glu161= Single submitter isolated microphthalmia 2
- p.Glu162= Single submitter isolated microphthalmia 2
- p.Glu186= Single submitter isolated microphthalmia 2
- p.Glu218= Single submitter isolated microphthalmia 2
- p.Glu234= Single submitter isolated microphthalmia 2
- p.Glu265= Single submitter isolated microphthalmia 2
- p.Glu271= Single submitter isolated microphthalmia 2
- p.Glu273= Single submitter isolated microphthalmia 2
- p.Glu338= Single submitter isolated microphthalmia 2
- p.Glu339= Single submitter isolated microphthalmia 2
- p.Glu341= Single submitter isolated microphthalmia 2
- p.Glu358= Single submitter isolated microphthalmia 2
- p.Gly109= Single submitter isolated microphthalmia 2
- p.Gly220= Single submitter isolated microphthalmia 2
- p.Gly223= Single submitter isolated microphthalmia 2
- p.Gly23= Single submitter isolated microphthalmia 2
- p.Gly24= Single submitter isolated microphthalmia 2
- p.Gly254= Single submitter isolated microphthalmia 2
- p.Gly272= Single submitter isolated microphthalmia 2
- p.Gly289= Single submitter isolated microphthalmia 2
- p.Gly31= Single submitter isolated microphthalmia 2
- p.Gly39= Single submitter isolated microphthalmia 2
- p.Gly55= Single submitter isolated microphthalmia 2
- p.Gly59= Single submitter isolated microphthalmia 2
- p.Gly6= Single submitter isolated microphthalmia 2
- p.Gly74= Single submitter isolated microphthalmia 2
- p.Gly77= Single submitter isolated microphthalmia 2
- p.Gly80= Single submitter isolated microphthalmia 2
- p.Gly82= Single submitter isolated microphthalmia 2
- p.Gly83= Single submitter isolated microphthalmia 2
- p.His228= Single submitter isolated microphthalmia 2
- p.His316= Single submitter isolated microphthalmia 2
- p.His48= Single submitter isolated microphthalmia 2
- p.Ile230= Single submitter isolated microphthalmia 2
- p.Leu108= Single submitter isolated microphthalmia 2
- p.Leu160= Single submitter isolated microphthalmia 2
- p.Leu232= Single submitter isolated microphthalmia 2
- p.Leu237= Single submitter isolated microphthalmia 2
- p.Leu252= Single submitter isolated microphthalmia 2
- p.Leu253= Single submitter isolated microphthalmia 2
- p.Leu260= Single submitter isolated microphthalmia 2
- p.Leu280= Single submitter isolated microphthalmia 2
- p.Leu321= Single submitter isolated microphthalmia 2
- p.Leu330= Single submitter isolated microphthalmia 2
- p.Leu352= Single submitter isolated microphthalmia 2
- p.Leu53= Single submitter isolated microphthalmia 2
- p.Leu56= Single submitter isolated microphthalmia 2
- p.Leu61= Single submitter isolated microphthalmia 2
- p.Leu62= Single submitter isolated microphthalmia 2
- p.Leu68= Single submitter isolated microphthalmia 2
- p.Lys137= Single submitter isolated microphthalmia 2
- p.Lys148= Single submitter isolated microphthalmia 2
- p.Lys184= Single submitter isolated microphthalmia 2
- p.Lys202= Single submitter isolated microphthalmia 2
- p.Lys279= Single submitter isolated microphthalmia 2
- p.Lys42= Single submitter isolated microphthalmia 2
- p.Phe32= Single submitter isolated microphthalmia 2
- p.Pro100= Single submitter isolated microphthalmia 2
- p.Pro107= Single submitter isolated microphthalmia 2
- p.Pro114= Single submitter isolated microphthalmia 2
- p.Pro188= Single submitter isolated microphthalmia 2
- p.Pro26= Single submitter isolated microphthalmia 2
- p.Pro270= Single submitter isolated microphthalmia 2
- p.Pro290= Single submitter isolated microphthalmia 2
- p.Pro348= Single submitter isolated microphthalmia 2
- p.Pro355= Single submitter isolated microphthalmia 2
- p.Pro44= Single submitter isolated microphthalmia 2
- p.Pro45= Single submitter isolated microphthalmia 2
- p.Pro49= Single submitter isolated microphthalmia 2
- p.Pro58= Single submitter isolated microphthalmia 2
- p.Pro70= Single submitter isolated microphthalmia 2
- p.Pro85= Single submitter isolated microphthalmia 2
- p.Ser102= Single submitter isolated microphthalmia 2
- p.Ser112= Single submitter isolated microphthalmia 2
- p.Ser130= Single submitter isolated microphthalmia 2
- p.Ser138= Single submitter isolated microphthalmia 2
- p.Ser14= Single submitter isolated microphthalmia 2
- p.Ser214= Single submitter isolated microphthalmia 2
- p.Ser22= Single submitter isolated microphthalmia 2
- p.Ser325= Single submitter isolated microphthalmia 2
- p.Ser66= Single submitter isolated microphthalmia 2
- p.Ser98= Single submitter isolated microphthalmia 2
- p.Ter362= Single submitter isolated microphthalmia 2
- p.Thr117= Single submitter isolated microphthalmia 2
- p.Thr120= Single submitter isolated microphthalmia 2
- p.Thr153= Single submitter isolated microphthalmia 2
- p.Thr16= Single submitter isolated microphthalmia 2
- p.Thr185= Single submitter isolated microphthalmia 2
- p.Thr2= Single submitter isolated microphthalmia 2
- p.Thr30= Single submitter
- p.Thr323= Single submitter isolated microphthalmia 2
- p.Thr334= Single submitter isolated microphthalmia 2
- p.Thr89= Single submitter isolated microphthalmia 2
- p.Thr92= Single submitter isolated microphthalmia 2
- p.Tyr158= Single submitter isolated microphthalmia 2
- p.Tyr222= Single submitter isolated microphthalmia 2
- p.Val128= Single submitter isolated microphthalmia 2
- p.Val17= Single submitter isolated microphthalmia 2
- p.Val175= Single submitter isolated microphthalmia 2
- p.Val194= Single submitter isolated microphthalmia 2
- p.Val320= Single submitter isolated microphthalmia 2
- p.Val324= Single submitter isolated microphthalmia 2
- p.Val67= Single submitter isolated microphthalmia 2
- p.Val96= Single submitter isolated microphthalmia 2
- c.*9G>A No assertion criteria VSX2-related disorder
Uncertain significance 145
- c.*250C>T Multiple submitters microphthalmia, isolated, with coloboma 3
- c.*962G>T Multiple submitters microphthalmia, isolated, with coloboma 3
- p.Ala217Val Multiple submitters isolated microphthalmia 2 ⚠
- p.Arg178Gln Multiple submitters microphthalmia, isolated, with coloboma 3 ⚠
- p.Arg199His Multiple submitters Inborn genetic diseases ⚠
- p.Arg206Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg274His Multiple submitters Inborn genetic diseases ⚠
- p.Arg288Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg332Trp Multiple submitters Inborn genetic diseases ⚠
- p.Glu161Asp Multiple submitters VSX2-related disorder ⚠
- p.Pro45Leu Multiple submitters Inborn genetic diseases ⚠
- c.370+3A>G Single submitter microphthalmia, isolated, with coloboma 3
- c.371-14C>G Single submitter isolated microphthalmia 2
- c.371-6T>C Single submitter
- c.455+3G>T Single submitter microphthalmia, isolated, with coloboma 3
- c.-43dup Single submitter
- c.-54G>A Single submitter isolated microphthalmia 2
- c.-68G>C Single submitter isolated microphthalmia 2
- c.*1029T>A Single submitter isolated microphthalmia 2
- c.*1073G>A Single submitter microphthalmia, isolated, with coloboma 3
- c.*10C>T Single submitter microphthalmia, isolated, with coloboma 3
- c.*11G>A Single submitter microphthalmia, isolated, with coloboma 3
- c.*1396C>T Single submitter microphthalmia, isolated, with coloboma 3
- c.*13T>G Single submitter microphthalmia, isolated, with coloboma 3
- c.*1447C>G Single submitter isolated microphthalmia 2
- c.*150G>C Single submitter microphthalmia, isolated, with coloboma 3
- c.*1511C>T Single submitter isolated microphthalmia 2
- c.*1521T>C Single submitter isolated microphthalmia 2
- c.*1537G>A Single submitter isolated microphthalmia 2
- c.*1565G>A Single submitter isolated microphthalmia 2
- c.*156G>A Single submitter microphthalmia, isolated, with coloboma 3
- c.*1640T>C Single submitter microphthalmia, isolated, with coloboma 3
- c.*1718T>C Single submitter microphthalmia, isolated, with coloboma 3
- c.*1753C>T Single submitter isolated microphthalmia 2
- c.*1757A>T Single submitter isolated microphthalmia 2
- c.*1764A>G Single submitter isolated microphthalmia 2
- c.*250C>G Single submitter microphthalmia, isolated, with coloboma 3
- c.*430C>T Single submitter microphthalmia, isolated, with coloboma 3
- c.*45T>C Single submitter microphthalmia, isolated, with coloboma 3
- c.*590C>T Single submitter microphthalmia, isolated, with coloboma 3
- c.*602T>G Single submitter microphthalmia, isolated, with coloboma 3
- c.*641C>T Single submitter isolated microphthalmia 2
- c.*70C>T Single submitter microphthalmia, isolated, with coloboma 3
- c.*775A>G Single submitter isolated microphthalmia 2
- c.*782C>A Single submitter isolated microphthalmia 2
- c.*855G>A Single submitter isolated microphthalmia 2
- p.Ala201Asp Single submitter microphthalmia, isolated, with coloboma 3 ⚠
- p.Ala217Pro Single submitter microphthalmia, isolated, with coloboma 3 ⚠
- p.Ala292Pro Single submitter isolated microphthalmia 2 ⚠
- p.Ala294Val Single submitter Inborn genetic diseases ⚠
- p.Ala313Val Single submitter Inborn genetic diseases ⚠
- p.Ala342Val Single submitter isolated microphthalmia 2 ⚠
- p.Ala57Asp Single submitter Inborn genetic diseases ⚠
- p.Arg206Trp Single submitter Inborn genetic diseases ⚠
- p.Arg212Leu Single submitter Inborn genetic diseases ⚠
- p.Arg268Lys Single submitter isolated microphthalmia 2 ⚠
- p.Arg268Met Single submitter Inborn genetic diseases ⚠
- p.Arg274Cys Single submitter Inborn genetic diseases ⚠
- p.Arg274Gly Single submitter Inborn genetic diseases ⚠
- p.Arg310Pro Single submitter Inborn genetic diseases ⚠
- p.Arg347Ser Single submitter Inborn genetic diseases ⚠
- p.Arg351Gly Single submitter isolated microphthalmia 2 ⚠
- p.Arg65Cys Single submitter Inborn genetic diseases ⚠
- p.Asn141Tyr Single submitter isolated microphthalmia 2 ⚠
- p.Asp116Asn Single submitter isolated microphthalmia 2 ⚠
- p.Asp99Asn Single submitter Inborn genetic diseases ⚠
- p.Gln101Pro Single submitter ⚠
- p.Gln119His Single submitter Inborn genetic diseases ⚠
- p.Gln35Arg Single submitter isolated microphthalmia 2 ⚠
- p.Glu169Lys Single submitter isolated microphthalmia 2 ⚠
- p.Glu218Asp Single submitter isolated microphthalmia 2 ⚠
- p.Glu271Lys Single submitter Inborn genetic diseases ⚠
- p.Glu287Gln Single submitter Inborn genetic diseases ⚠
- p.Glu335Lys Single submitter Inborn genetic diseases ⚠
- p.Glu339Asp Single submitter isolated microphthalmia 2 ⚠
- p.Glu341del Single submitter isolated microphthalmia 2
- p.Gly3Arg Single submitter Inborn genetic diseases ⚠
- p.Gly3Glu Single submitter Inborn genetic diseases ⚠
- p.Gly55Asp Single submitter Inborn genetic diseases ⚠
- p.Gly59Arg Single submitter isolated microphthalmia 2
- p.Gly72Glu Single submitter Inborn genetic diseases ⚠
- p.Gly83Val Single submitter Inborn genetic diseases ⚠
- p.Ile154Val Single submitter Inborn genetic diseases ⚠
- p.Ile192Met Single submitter ⚠
- p.Ile306Val Single submitter Inborn genetic diseases ⚠
- p.Leu140Ser Single submitter Inborn genetic diseases ⚠
- p.Leu357Val Single submitter Inborn genetic diseases ⚠
- p.Lys137Glu Single submitter isolated microphthalmia 2 ⚠
- p.Lys19Glu Single submitter Inborn genetic diseases ⚠
- p.Lys208Met Single submitter Inborn genetic diseases ⚠
- p.Lys319Glu Single submitter Inborn genetic diseases ⚠
- p.Lys336Asn Single submitter Inborn genetic diseases ⚠
- p.Met180Thr Single submitter isolated microphthalmia 2 ⚠
- p.Met183Val Single submitter Inborn genetic diseases ⚠
- p.Met283Leu Single submitter Inborn genetic diseases ⚠
- p.Met76Val Single submitter Inborn genetic diseases ⚠
- p.Pro231Ser Single submitter ⚠
- p.Pro348Leu Single submitter ⚠
- p.Pro355Leu Single submitter Inborn genetic diseases ⚠
- p.Pro49Ser Single submitter Inborn genetic diseases ⚠
- p.Pro81Leu Single submitter Inborn genetic diseases ⚠
- p.Pro91Arg Single submitter Inborn genetic diseases ⚠
- p.Pro91Ser Single submitter Inborn genetic diseases ⚠
- p.Ser102Arg Single submitter microphthalmia, isolated, with coloboma 3 ⚠
- p.Ser10Arg Single submitter Inborn genetic diseases
- p.Ser122Ile Single submitter Inborn genetic diseases
- p.Ser213Asn Single submitter isolated microphthalmia 2 ⚠
- p.Ser259Pro Single submitter Inborn genetic diseases ⚠
- p.Ser266Leu Single submitter Inborn genetic diseases ⚠
- p.Thr156Pro Single submitter Inborn genetic diseases ⚠
- p.Thr323Ala Single submitter isolated microphthalmia 2 ⚠
- p.Thr89Met Single submitter Inborn genetic diseases ⚠
- p.Thr92Ser Single submitter Inborn genetic diseases ⚠
- p.Trp210Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr172Phe Single submitter Inborn genetic diseases ⚠
- p.Tyr222His Single submitter Inborn genetic diseases ⚠
- p.Val175Ile Single submitter isolated microphthalmia 2
- p.Val194Ile Single submitter Inborn genetic diseases ⚠
- p.Val96Leu Single submitter Inborn genetic diseases ⚠
- c.*3C>A No assertion criteria microphthalmia
- c.*8C>T No assertion criteria microphthalmia
- p.Ala18Val No assertion criteria microphthalmia ⚠
- p.Ala262Pro No assertion criteria microphthalmia ⚠
- p.Ala71Val No assertion criteria microphthalmia ⚠
- p.Arg152Lys No assertion criteria retinitis pigmentosa ⚠
- p.Glu15Asp No assertion criteria microphthalmia ⚠
- p.Glu169= No assertion criteria microphthalmia
- p.Glu186Asp No assertion criteria microphthalmia ⚠
- p.Gly109Arg No assertion criteria microphthalmia ⚠
- p.Gly289Asp No assertion criteria microphthalmia, isolated, with coloboma 3 ⚠
- p.Gly83Glu No assertion criteria microphthalmia ⚠
- p.Ile236Thr No assertion criteria microphthalmia ⚠
- p.Leu105= No assertion criteria microphthalmia
- p.Leu301= No assertion criteria microphthalmia
- p.Lys336Gln No assertion criteria microphthalmia ⚠
- p.Lys4Asn No assertion criteria microphthalmia ⚠
- p.Phe196= No assertion criteria microphthalmia
- p.Pro233= No assertion criteria microphthalmia
- p.Pro58His No assertion criteria microphthalmia ⚠
- p.Pro85Ser No assertion criteria microphthalmia ⚠
- p.Ser157Phe No assertion criteria microphthalmia ⚠
- p.Ser46Arg No assertion criteria microphthalmia ⚠
- p.Thr318Ala No assertion criteria microphthalmia ⚠
- p.Val194Leu No assertion criteria microphthalmia ⚠
- p.Val308Met No assertion criteria microphthalmia ⚠