ROBO3 — 420 ClinVar variants

All ClinVar germline ROBO3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 240 flagged for review →

15 Pathogenic · 1 Pathogenic/Likely pathogenic · 27 Likely pathogenic · 20 Conflicting · 24 Benign · 5 Benign/Likely benign · 56 Likely benign · 272 Uncertain significance

Full ROBO3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 240

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 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

ROBO3 p.Pro771Leu Likely pathogenic Multiple submitters
gaze palsy, familial horizontal, with progressive scoliosis 1
ROBO3 p.Glu319Lys Likely pathogenic Single submitter
gaze palsy, familial horizontal, with progressive scoliosis 1

Predictors agree, ClinVar conflicts 10

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

ROBO3 p.Ala1279Val Conflicting Single submitter
Inborn genetic diseases
ROBO3 p.Ala1304Val Conflicting Single submitter
Inborn genetic diseases
ROBO3 p.Arg674Cys Conflicting Single submitter
Inborn genetic diseases
ROBO3 p.Asp284Asn Conflicting Single submitter
Inborn genetic diseases
ROBO3 p.Gln460Arg Conflicting Single submitter
gaze palsy, familial horizontal, with progressive scoliosis 1
ROBO3 p.Met1194Thr Conflicting Single submitter
Inborn genetic diseases
ROBO3 p.Met514Ile Conflicting Single submitter
Inborn genetic diseases
ROBO3 p.Ser1372Arg Conflicting Single submitter
Inborn genetic diseases
ROBO3 p.Thr323Met Conflicting Single submitter
gaze palsy, familial horizontal, with progressive scoliosis 1
ROBO3 p.Val1308Met Conflicting Single submitter
gaze palsy, familial horizontal, with progressive scoliosis 1

Predictors lean, ClinVar uncertain 187

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 187

ROBO3 p.Ala900Val Uncertain significance Multiple submitters
gaze palsy, familial horizontal, with progressive scoliosis 1
ROBO3 p.Arg1296Gly Uncertain significance Multiple submitters
Inborn genetic diseases
ROBO3 p.Arg1363Trp Uncertain significance Multiple submitters
gaze palsy, familial horizontal, with progressive scoliosis 1
ROBO3 p.Arg1365Trp Uncertain significance Multiple submitters
Inborn genetic diseases
ROBO3 p.Arg257Cys Uncertain significance Multiple submitters
gaze palsy, familial horizontal, with progressive scoliosis 1
ROBO3 p.Arg262His Uncertain significance Multiple submitters
Inborn genetic diseases
ROBO3 p.Arg603His Uncertain significance Multiple submitters
Inborn genetic diseases
ROBO3 p.Arg648His Uncertain significance Multiple submitters
Inborn genetic diseases
ROBO3 p.Asn986Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ROBO3 p.Glu977Asp Uncertain significance Multiple submitters
Inborn genetic diseases
ROBO3 p.Gly150Glu Uncertain significance Multiple submitters
ROBO3-related disorder
ROBO3 p.Gly431Asp Uncertain significance Multiple submitters
Inborn genetic diseases
ROBO3 p.Gly701Val Uncertain significance Multiple submitters
Inborn genetic diseases
ROBO3 p.Leu1283Arg Uncertain significance Multiple submitters
Inborn genetic diseases
ROBO3 p.Pro1013Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ROBO3 p.Thr398Met Uncertain significance Multiple submitters
Inborn genetic diseases
ROBO3 p.Trp716Gly Uncertain significance Multiple submitters
ROBO3-related disorder
ROBO3 p.Ala1007Thr Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Ala102Glu Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Ala1200Val Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Ala1224Val Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Ala1255Gly Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Ala1311Val Uncertain significance Single submitter
gaze palsy, familial horizontal, with progressive scoliosis 1
ROBO3 p.Ala1322Ser Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Ala273Val Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Ala413Thr Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Ala584Thr Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Ala746Thr Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Ala746Val Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Ala900Thr Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Ala903Glu Uncertain significance Single submitter
ROBO3 p.Ala903Ser Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Ala903Thr Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Ala957Val Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Arg1246His Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Arg1248Gln Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Arg1296Gln Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Arg1296Trp Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Arg1314Gln Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Arg1314Gly Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Arg1314Trp Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Arg1334Gln Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Arg1334Trp Uncertain significance Single submitter
tuberous sclerosis
ROBO3 p.Arg1356Met Uncertain significance Single submitter
ROBO3 p.Arg1365Gln Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Arg1367Gln Uncertain significance Single submitter
gaze palsy, familial horizontal, with progressive scoliosis 1
ROBO3 p.Arg1381Cys Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Arg1382Leu Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Arg257His Uncertain significance Single submitter
gaze palsy, familial horizontal, with progressive scoliosis 1
ROBO3 p.Arg292His Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Arg684Gln Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Arg703Gln Uncertain significance Single submitter
ROBO3 p.Arg979Gly Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Asn174Asp Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Asn503His Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Asp1043Asn Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Asp494Asn Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Asp990Glu Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Cys1092Arg Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Cys1092Ser Uncertain significance Single submitter
gaze palsy, familial horizontal, with progressive scoliosis 1
ROBO3 p.Gln1038Arg Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Gln1038Lys Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Gln741His Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Gln741Pro Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Gln747Glu Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Glu1103Lys Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Glu1125Gly Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Glu1140Lys Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Glu1261Lys Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Glu513Asp Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Glu513Gly Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Glu659Asp Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Glu766Gly Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Gly1009Asp Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Gly101Glu Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Gly1065Ser Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Gly1149Glu Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Gly1236Arg Uncertain significance Single submitter
gaze palsy, familial horizontal, with progressive scoliosis 1
ROBO3 p.Gly1236Val Uncertain significance Single submitter
gaze palsy, familial horizontal, with progressive scoliosis 1
ROBO3 p.Gly1265Arg Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Gly131Arg Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Gly1335Asp Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Gly1337Asp Uncertain significance Single submitter
gaze palsy, familial horizontal, with progressive scoliosis 1
ROBO3 p.Gly1345Arg Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Gly1357Ser Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Gly1378Arg Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Gly21Arg Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Gly296Glu Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Gly314Arg Uncertain significance Single submitter
ROBO3 p.Gly384Glu Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Gly443Glu Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Gly48Ser Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Gly543Glu Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Gly54Arg Uncertain significance Single submitter
ROBO3 p.Gly636Cys Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Gly733Glu Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Gly770Ser Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Gly780Glu Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Gly902Arg Uncertain significance Single submitter
ROBO3 p.His1214Leu Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Ile1022Thr Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Ile1197Val Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Ile567Val Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Ile740Met Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Ile763Val Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Leu1069Phe Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Leu159Pro Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Leu255Pro Uncertain significance Single submitter
gaze palsy, familial horizontal, with progressive scoliosis 1
ROBO3 p.Leu619Arg Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Leu904Pro Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Lys1380Thr Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Lys371Arg Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Lys486Arg Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Lys7Gln Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Met1117Ile Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Met1117Thr Uncertain significance Single submitter
gaze palsy, familial horizontal, with progressive scoliosis 1
ROBO3 p.Met1176Ile Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Met1176Val Uncertain significance Single submitter
ROBO3 p.Met1291Val Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Met12Leu Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Met241Thr Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Met253Thr Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Met514Val Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Pro1086Ser Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Pro1087Gln Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Pro1087Leu Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Pro1115Leu Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Pro1146Ser Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Pro1166Ser Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Pro1177Ala Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Pro1184Arg Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Pro1184Gln Uncertain significance Single submitter
gaze palsy, familial horizontal, with progressive scoliosis 1
ROBO3 p.Pro1184Leu Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Pro1209His Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Pro1213Ser Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Pro1221Leu Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Pro1318Ser Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Pro1385Gln Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Pro194Leu Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Pro397Ser Uncertain significance Single submitter
gaze palsy, familial horizontal, with progressive scoliosis 1
ROBO3 p.Pro559Ala Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Pro59Leu Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Pro640Thr Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Pro794Ser Uncertain significance Single submitter
gaze palsy, familial horizontal, with progressive scoliosis 1
ROBO3 p.Pro93His Uncertain significance Single submitter
ROBO3 p.Pro958Thr Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Pro969Ala Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Ser1091Pro Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Ser1189Gly Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Ser1263Thr Uncertain significance Single submitter
gaze palsy, familial horizontal, with progressive scoliosis 1

Predictors split 41

The independent predictors disagree with each other — read with care.

ROBO3 p.Gln687His Uncertain significance Multiple submitters
gaze palsy, familial horizontal, with progressive scoliosis 1
ROBO3 p.Gly618Ser Benign Multiple submitters
gaze palsy, familial horizontal, with progressive scoliosis 1
ROBO3 p.Phe15Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ROBO3 p.Pro683Leu Uncertain significance Multiple submitters
gaze palsy, familial horizontal, with progressive scoliosis 1
ROBO3 p.Thr351Pro Uncertain significance Multiple submitters
gaze palsy, familial horizontal, with progressive scoliosis 1
ROBO3 p.Val423Met Benign Multiple submitters
gaze palsy, familial horizontal, with progressive scoliosis 1
ROBO3 p.Ala157Ser Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Arg191Gly Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Arg288Pro Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Cys983Arg Uncertain significance Single submitter
gaze palsy, familial horizontal, with progressive scoliosis 1
ROBO3 p.Glu251Asp Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Glu68Gln Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Gly384Arg Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Gly694Asp Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Gly780Trp Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Gly998Val Conflicting Single submitter
gaze palsy, familial horizontal, with progressive scoliosis 1
ROBO3 p.His193Arg Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Ile23Ser Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Ile679Thr Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Leu389Pro Uncertain significance Single submitter
ROBO3 p.Leu5Pro Likely pathogenic Single submitter
gaze palsy, familial horizontal, with progressive scoliosis 1
ROBO3 p.Met223Ile Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Met223Thr Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Phe498Leu Likely benign Single submitter
Inborn genetic diseases
ROBO3 p.Phe702Cys Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Pro126Gln Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Pro189Thr Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Pro556Leu Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Ser1048Ile Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Ser26Pro Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Ser653Arg Uncertain significance Single submitter
gaze palsy, familial horizontal, with progressive scoliosis 1
ROBO3 p.Ser705Pro Likely pathogenic Single submitter
gaze palsy, familial horizontal, with progressive scoliosis 1
ROBO3 p.Ser923Arg Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Trp1047Gly Uncertain significance Single submitter
gaze palsy, familial horizontal, with progressive scoliosis 1
ROBO3 p.Trp961Arg Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Trp961Gly Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Tyr925His Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Val237Ile Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Val511Met Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Val688Ala Uncertain significance Single submitter
Inborn genetic diseases
ROBO3 p.Cys909Trp Uncertain significance No assertion criteria
gaze palsy, familial horizontal, with progressive scoliosis 1

All ROBO3 variants

Pathogenic 15

c.2770_2779+21del Multiple submitters conjugate gaze palsy
c.767-2_778del Single submitter
p.Arg191fs Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1
p.Gln267Ter Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1
p.Leu1156fs Single submitter
p.Trp291Ter Single submitter
p.Trp662Ter Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1
p.Trp809Ter Single submitter
c.2073+1G>A No assertion criteria gaze palsy, familial horizontal, with progressive scoliosis 1
p.Gln773fs No assertion criteria gaze palsy, familial horizontal, with progressive scoliosis 1
p.Gln773Ter No assertion criteria gaze palsy, familial horizontal, with progressive scoliosis 1
p.Glu1109fs No assertion criteria gaze palsy, familial horizontal, with progressive scoliosis 1
p.Gly456Ter No assertion criteria gaze palsy, familial horizontal, with progressive scoliosis 1
p.Thr615fs No assertion criteria gaze palsy, familial horizontal, with progressive scoliosis 1
p.Val629fs No assertion criteria gaze palsy, familial horizontal, with progressive scoliosis 1

Pathogenic/Likely pathogenic 1

c.767-1G>A Multiple submitters gaze palsy, familial horizontal, with progressive scoliosis 1

Likely pathogenic 27

p.Arg245Trp Multiple submitters gaze palsy, familial horizontal, with progressive scoliosis 1
p.Arg703Pro Multiple submitters gaze palsy, familial horizontal, with progressive scoliosis 1
p.Ile95Thr Multiple submitters gaze palsy, familial horizontal, with progressive scoliosis 1
p.Pro771Leu Multiple submitters gaze palsy, familial horizontal, with progressive scoliosis 1 ⚠
c.1330+2T>C Single submitter ROBO3-related disorder
c.487+1G>C Single submitter ROBO3-related disorder
p.Ala934fs Single submitter ROBO3-related disorder
p.Arg112Pro Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1
p.Arg1138fs Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1
p.Arg135fs Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1
p.Arg92Ter Single submitter ROBO3-related disorder
p.Asp72Tyr Single submitter ROBO3-related disorder
p.Gln1165Ter Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1
p.Gln1313Ter Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1
p.Gln386His Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1
p.Glu319Lys Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1 ⚠
p.Gly139Val Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1
p.Gly361Glu Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1
p.Ile441Arg Single submitter
p.Ile66Leu Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1
p.Leu5Pro Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1 ⚠
p.Leu905fs Single submitter ROBO3-related disorder
p.Pro478Leu Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1
p.Pro91Ser Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1
p.Ser705Pro Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1 ⚠
p.Trp484Arg Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1
p.Trp576Arg Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1

Conflicting classifications of pathogenicity 20

p.Ala1279Val Single submitter Inborn genetic diseases ⚠
p.Ala1304Val Single submitter Inborn genetic diseases ⚠
p.Ala1307= Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1
p.Ala584= Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1
p.Arg1260= Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1
p.Arg213= Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1
p.Arg674Cys Single submitter Inborn genetic diseases ⚠
p.Asp284Asn Single submitter Inborn genetic diseases ⚠
p.Gln1175= Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1
p.Gln460Arg Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1 ⚠
p.Gly770= Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1
p.Gly998Val Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1 ⚠
p.Met1194Thr Single submitter Inborn genetic diseases ⚠
p.Met514Ile Single submitter Inborn genetic diseases ⚠
p.Ser1189= Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1
p.Ser1366= Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1
p.Ser1372Arg Single submitter Inborn genetic diseases ⚠
p.Thr323Met Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1 ⚠
p.Thr398= Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1
p.Val1308Met Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1 ⚠

Benign 24

c.1331-3C>T Multiple submitters gaze palsy, familial horizontal, with progressive scoliosis 1
c.1331-49C>T Multiple submitters gaze palsy, familial horizontal, with progressive scoliosis 1
c.4150-8C>T Multiple submitters gaze palsy, familial horizontal, with progressive scoliosis 1
c.766+24T>C Multiple submitters gaze palsy, familial horizontal, with progressive scoliosis 1
p.Ala1062Thr Multiple submitters gaze palsy, familial horizontal, with progressive scoliosis 1
p.Ala242= Multiple submitters gaze palsy, familial horizontal, with progressive scoliosis 1
p.Ala776= Multiple submitters gaze palsy, familial horizontal, with progressive scoliosis 1
p.Arg1198His Multiple submitters gaze palsy, familial horizontal, with progressive scoliosis 1
p.Arg416His Multiple submitters gaze palsy, familial horizontal, with progressive scoliosis 1
p.Arg539Trp Multiple submitters gaze palsy, familial horizontal, with progressive scoliosis 1
p.Cys368= Multiple submitters gaze palsy, familial horizontal, with progressive scoliosis 1
p.Gly608= Multiple submitters gaze palsy, familial horizontal, with progressive scoliosis 1
p.Gly618Ser Multiple submitters gaze palsy, familial horizontal, with progressive scoliosis 1 ⚠
p.Pro1100= Multiple submitters gaze palsy, familial horizontal, with progressive scoliosis 1
p.Pro189= Multiple submitters gaze palsy, familial horizontal, with progressive scoliosis 1
p.Pro397Thr Multiple submitters gaze palsy, familial horizontal, with progressive scoliosis 1
p.Val423Met Multiple submitters gaze palsy, familial horizontal, with progressive scoliosis 1 ⚠
c.2074-3C>T Single submitter
c.-120G>C Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1
p.1363RS[2] Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1
p.Arg1367fs Single submitter
p.Gln1233His Single submitter
p.Leu118= Single submitter
p.Pro1385Leu Single submitter

Benign/Likely benign 5

c.488-14A>C Multiple submitters gaze palsy, familial horizontal, with progressive scoliosis 1
p.Ala997= Multiple submitters gaze palsy, familial horizontal, with progressive scoliosis 1
p.Asp495= Multiple submitters
p.Leu574= Multiple submitters gaze palsy, familial horizontal, with progressive scoliosis 1
p.Pro1274= Multiple submitters gaze palsy, familial horizontal, with progressive scoliosis 1

Likely benign 56

c.160+12C>T Multiple submitters gaze palsy, familial horizontal, with progressive scoliosis 1
p.Ala16Thr Multiple submitters gaze palsy, familial horizontal, with progressive scoliosis 1
p.Ala899= Multiple submitters gaze palsy, familial horizontal, with progressive scoliosis 1
p.Arg1359= Multiple submitters
p.Asp495Glu Multiple submitters gaze palsy, familial horizontal, with progressive scoliosis 1
p.Glu921Asp Multiple submitters gaze palsy, familial horizontal, with progressive scoliosis 1
p.Pro1264= Multiple submitters gaze palsy, familial horizontal, with progressive scoliosis 1
p.Pro397= Multiple submitters
p.Ser1368= Multiple submitters
p.Thr613Ile Multiple submitters
p.Val522= Multiple submitters
c.2299+10del Single submitter
c.2299+7A>C Single submitter
c.2422-20C>T Single submitter
c.2804-4C>A Single submitter
c.3533+7A>T Single submitter
c.3534-17G>A Single submitter
c.3534-18G>A Single submitter
c.3685+9_3685+10del Single submitter
c.3796+11del Single submitter
c.3958+6C>G Single submitter
c.4150-11T>C Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1
c.487+18G>A Single submitter
c.488-6G>C Single submitter
c.*36C>T Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1
p.Ala248= Single submitter
p.Ala328= Single submitter
p.Ala39= Single submitter
p.Ala634Thr Single submitter Inborn genetic diseases
p.Arg1250Trp Single submitter
p.Arg306= Single submitter
p.Arg334= Single submitter
p.Asn503= Single submitter
p.Asn510Ser Single submitter Inborn genetic diseases
p.Glu659= Single submitter
p.Gly902= Single submitter
p.Gly955= Single submitter
p.Ile508= Single submitter
p.Leu270= Single submitter
p.Leu74= Single submitter
p.Met1170Ile Single submitter Inborn genetic diseases
p.Met253Val Single submitter Inborn genetic diseases
p.Phe498Leu Single submitter Inborn genetic diseases ⚠
p.Ser363= Single submitter
p.Ser705= Single submitter
p.Ser76= Single submitter
p.Ser769= Single submitter
p.Thr1343= Single submitter
p.Thr804= Single submitter
p.Tyr324= Single submitter
c.1951+3A>G No assertion criteria ROBO3-related disorder
c.906-3C>T No assertion criteria ROBO3-related disorder
p.Ala273= No assertion criteria ROBO3-related disorder
p.Asn100= No assertion criteria ROBO3-related disorder
p.Leu31= No assertion criteria ROBO3-related disorder
p.Val75= No assertion criteria ROBO3-related disorder

Uncertain significance 272

c.*67C>T Multiple submitters gaze palsy, familial horizontal, with progressive scoliosis 1
p.Ala669= Multiple submitters gaze palsy, familial horizontal, with progressive scoliosis 1
p.Ala900Val Multiple submitters gaze palsy, familial horizontal, with progressive scoliosis 1 ⚠
p.Arg1296Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg1363Trp Multiple submitters gaze palsy, familial horizontal, with progressive scoliosis 1 ⚠
p.Arg1365Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg257Cys Multiple submitters gaze palsy, familial horizontal, with progressive scoliosis 1 ⚠
p.Arg262His Multiple submitters Inborn genetic diseases ⚠
p.Arg603His Multiple submitters Inborn genetic diseases ⚠
p.Arg648His Multiple submitters Inborn genetic diseases ⚠
p.Asn986Ser Multiple submitters Inborn genetic diseases ⚠
p.Gln687His Multiple submitters gaze palsy, familial horizontal, with progressive scoliosis 1 ⚠
p.Glu977Asp Multiple submitters Inborn genetic diseases ⚠
p.Gly150Glu Multiple submitters ROBO3-related disorder ⚠
p.Gly431Asp Multiple submitters Inborn genetic diseases ⚠
p.Gly701Val Multiple submitters Inborn genetic diseases ⚠
p.Leu1283Arg Multiple submitters Inborn genetic diseases ⚠
p.Phe15Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro1013Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro683Leu Multiple submitters gaze palsy, familial horizontal, with progressive scoliosis 1 ⚠
p.Thr351Pro Multiple submitters gaze palsy, familial horizontal, with progressive scoliosis 1 ⚠
p.Thr398Met Multiple submitters Inborn genetic diseases ⚠
p.Trp716Gly Multiple submitters ROBO3-related disorder ⚠
c.1034-13C>G Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1
c.161-14C>G Single submitter
c.1619-5T>C Single submitter
c.1619-9C>T Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1
c.2779+9C>T Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1
c.2846+11T>C Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1
c.3320+12C>T Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1
c.646-11T>G Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1
c.-60G>T Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1
c.*111C>T Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1
c.*64C>G Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1
c.*67C>G Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1
c.*68C>G Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1
c.*91C>A Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1
p.Ala1007Thr Single submitter Inborn genetic diseases ⚠
p.Ala102Glu Single submitter Inborn genetic diseases ⚠
p.Ala1154= Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1
p.Ala1200Val Single submitter Inborn genetic diseases ⚠
p.Ala1224Val Single submitter Inborn genetic diseases ⚠
p.Ala1255Gly Single submitter Inborn genetic diseases ⚠
p.Ala1311Val Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1 ⚠
p.Ala1322Ser Single submitter Inborn genetic diseases ⚠
p.Ala157Ser Single submitter Inborn genetic diseases ⚠
p.Ala273Val Single submitter Inborn genetic diseases ⚠
p.Ala413Thr Single submitter Inborn genetic diseases ⚠
p.Ala584Thr Single submitter Inborn genetic diseases ⚠
p.Ala746Thr Single submitter Inborn genetic diseases ⚠
p.Ala746Val Single submitter Inborn genetic diseases ⚠
p.Ala900Thr Single submitter Inborn genetic diseases ⚠
p.Ala903Glu Single submitter ⚠
p.Ala903Ser Single submitter Inborn genetic diseases ⚠
p.Ala903Thr Single submitter Inborn genetic diseases ⚠
p.Ala957Val Single submitter Inborn genetic diseases ⚠
p.Arg108Trp Single submitter Inborn genetic diseases
p.Arg1246His Single submitter Inborn genetic diseases ⚠
p.Arg1248Gln Single submitter Inborn genetic diseases ⚠
p.Arg1296Gln Single submitter Inborn genetic diseases ⚠
p.Arg1296Trp Single submitter Inborn genetic diseases ⚠
p.Arg1314Gln Single submitter Inborn genetic diseases ⚠
p.Arg1314Gly Single submitter Inborn genetic diseases ⚠
p.Arg1314Trp Single submitter Inborn genetic diseases ⚠
p.Arg1334Gln Single submitter Inborn genetic diseases ⚠
p.Arg1334Trp Single submitter tuberous sclerosis ⚠
p.Arg133Pro Single submitter
p.Arg1356Met Single submitter ⚠
p.Arg1365Gln Single submitter Inborn genetic diseases ⚠
p.Arg1367Gln Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1 ⚠
p.Arg1381Cys Single submitter Inborn genetic diseases ⚠
p.Arg1382Leu Single submitter Inborn genetic diseases ⚠
p.Arg191Gly Single submitter Inborn genetic diseases ⚠
p.Arg257His Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1 ⚠
p.Arg288Pro Single submitter Inborn genetic diseases ⚠
p.Arg290Cys Single submitter Inborn genetic diseases
p.Arg292His Single submitter Inborn genetic diseases ⚠
p.Arg539= Single submitter
p.Arg648Cys Single submitter
p.Arg684Gln Single submitter Inborn genetic diseases ⚠
p.Arg703Gln Single submitter ⚠
p.Arg77_Thr82del Single submitter ROBO3-related disorder
p.Arg979Gly Single submitter Inborn genetic diseases ⚠
p.Asn156= Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1
p.Asn156His Single submitter Inborn genetic diseases
p.Asn174Asp Single submitter Inborn genetic diseases ⚠
p.Asn503His Single submitter Inborn genetic diseases ⚠
p.Asp1043Asn Single submitter Inborn genetic diseases ⚠
p.Asp494Asn Single submitter Inborn genetic diseases ⚠
p.Asp651= Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1
p.Asp660Tyr Single submitter Inborn genetic diseases
p.Asp990Glu Single submitter Inborn genetic diseases ⚠
p.Cys1092Arg Single submitter Inborn genetic diseases ⚠
p.Cys1092Ser Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1 ⚠
p.Cys983Arg Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1 ⚠
p.Gln1038Arg Single submitter Inborn genetic diseases ⚠
p.Gln1038Lys Single submitter Inborn genetic diseases ⚠
p.Gln650His Single submitter Inborn genetic diseases
p.Gln741His Single submitter Inborn genetic diseases ⚠
p.Gln741Pro Single submitter Inborn genetic diseases ⚠
p.Gln747Glu Single submitter Inborn genetic diseases ⚠
p.Glu1103Lys Single submitter Inborn genetic diseases ⚠
p.Glu1125Gly Single submitter Inborn genetic diseases ⚠
p.Glu1140Lys Single submitter Inborn genetic diseases ⚠
p.Glu1261Lys Single submitter Inborn genetic diseases ⚠
p.Glu210= Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1
p.Glu251Asp Single submitter Inborn genetic diseases ⚠
p.Glu513Asp Single submitter Inborn genetic diseases ⚠
p.Glu513Gly Single submitter Inborn genetic diseases ⚠
p.Glu659Asp Single submitter Inborn genetic diseases ⚠
p.Glu68Gln Single submitter Inborn genetic diseases ⚠
p.Glu755Val Single submitter Inborn genetic diseases
p.Glu766Gly Single submitter Inborn genetic diseases ⚠
p.Glu79Lys Single submitter Inborn genetic diseases
p.Gly1009Asp Single submitter Inborn genetic diseases ⚠
p.Gly1014= Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1
p.Gly101Glu Single submitter Inborn genetic diseases ⚠
p.Gly1065Ser Single submitter Inborn genetic diseases ⚠
p.Gly1149Glu Single submitter Inborn genetic diseases ⚠
p.Gly1236Arg Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1 ⚠
p.Gly1236Val Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1 ⚠
p.Gly1265Arg Single submitter Inborn genetic diseases ⚠
p.Gly131Arg Single submitter Inborn genetic diseases ⚠
p.Gly1335Asp Single submitter Inborn genetic diseases ⚠
p.Gly1337Asp Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1 ⚠
p.Gly1345Arg Single submitter Inborn genetic diseases ⚠
p.Gly1351Arg Single submitter Inborn genetic diseases
p.Gly1357Ser Single submitter Inborn genetic diseases ⚠
p.Gly1378Arg Single submitter Inborn genetic diseases ⚠
p.Gly21Arg Single submitter Inborn genetic diseases ⚠
p.Gly296Glu Single submitter Inborn genetic diseases ⚠
p.Gly314Arg Single submitter ⚠
p.Gly384Arg Single submitter Inborn genetic diseases ⚠
p.Gly384Glu Single submitter Inborn genetic diseases ⚠
p.Gly443Glu Single submitter Inborn genetic diseases ⚠
p.Gly48Ser Single submitter Inborn genetic diseases ⚠
p.Gly504Ser Single submitter
p.Gly543Glu Single submitter Inborn genetic diseases ⚠
p.Gly54Arg Single submitter ⚠
p.Gly583Arg Single submitter Inborn genetic diseases
p.Gly636Cys Single submitter Inborn genetic diseases ⚠
p.Gly694Asp Single submitter Inborn genetic diseases ⚠
p.Gly733Glu Single submitter Inborn genetic diseases ⚠
p.Gly770Ser Single submitter Inborn genetic diseases ⚠
p.Gly780Glu Single submitter Inborn genetic diseases ⚠
p.Gly780Trp Single submitter Inborn genetic diseases ⚠
p.Gly902Arg Single submitter ⚠
p.His1214Leu Single submitter Inborn genetic diseases ⚠
p.His193Arg Single submitter Inborn genetic diseases ⚠
p.Ile1022Thr Single submitter Inborn genetic diseases ⚠
p.Ile1197Val Single submitter Inborn genetic diseases ⚠
p.Ile23Ser Single submitter Inborn genetic diseases ⚠
p.Ile567Val Single submitter Inborn genetic diseases ⚠
p.Ile679Thr Single submitter Inborn genetic diseases ⚠
p.Ile740Met Single submitter Inborn genetic diseases ⚠
p.Ile763Val Single submitter Inborn genetic diseases ⚠
p.Leu1069Phe Single submitter Inborn genetic diseases ⚠
p.Leu159Pro Single submitter Inborn genetic diseases ⚠
p.Leu255Pro Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1 ⚠
p.Leu298Val Single submitter Inborn genetic diseases
p.Leu389Pro Single submitter ⚠
p.Leu619Arg Single submitter Inborn genetic diseases ⚠
p.Leu698Pro Single submitter Inborn genetic diseases
p.Leu904Pro Single submitter Inborn genetic diseases ⚠
p.Lys1380Thr Single submitter Inborn genetic diseases ⚠
p.Lys371Arg Single submitter Inborn genetic diseases ⚠
p.Lys486Arg Single submitter Inborn genetic diseases ⚠
p.Lys7Gln Single submitter Inborn genetic diseases ⚠
p.Met1117Ile Single submitter Inborn genetic diseases ⚠
p.Met1117Thr Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1 ⚠
p.Met1176Ile Single submitter Inborn genetic diseases ⚠
p.Met1176Val Single submitter ⚠
p.Met1291Val Single submitter Inborn genetic diseases ⚠
p.Met12Leu Single submitter Inborn genetic diseases ⚠
p.Met223Ile Single submitter Inborn genetic diseases ⚠
p.Met223Thr Single submitter Inborn genetic diseases ⚠
p.Met241Thr Single submitter Inborn genetic diseases ⚠
p.Met253Thr Single submitter Inborn genetic diseases ⚠
p.Met514Val Single submitter Inborn genetic diseases ⚠
p.Phe702Cys Single submitter Inborn genetic diseases ⚠
p.Pro1086Ser Single submitter Inborn genetic diseases ⚠
p.Pro1087Gln Single submitter Inborn genetic diseases ⚠
p.Pro1087Leu Single submitter Inborn genetic diseases ⚠
p.Pro1090del Single submitter
p.Pro1115Leu Single submitter Inborn genetic diseases ⚠
p.Pro1118= Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1
p.Pro1146Ser Single submitter Inborn genetic diseases ⚠
p.Pro1166Ser Single submitter Inborn genetic diseases ⚠
p.Pro1177Ala Single submitter Inborn genetic diseases ⚠
p.Pro1184Arg Single submitter Inborn genetic diseases ⚠
p.Pro1184Gln Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1 ⚠
p.Pro1184Leu Single submitter Inborn genetic diseases ⚠
p.Pro1209His Single submitter Inborn genetic diseases ⚠
p.Pro1213Ser Single submitter Inborn genetic diseases ⚠
p.Pro1221Leu Single submitter Inborn genetic diseases ⚠
p.Pro126Gln Single submitter Inborn genetic diseases ⚠
p.Pro1318Ser Single submitter Inborn genetic diseases ⚠
p.Pro1385Gln Single submitter Inborn genetic diseases ⚠
p.Pro189Thr Single submitter Inborn genetic diseases ⚠
p.Pro190Ser Single submitter
p.Pro194Leu Single submitter Inborn genetic diseases ⚠
p.Pro397Ser Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1 ⚠
p.Pro556Leu Single submitter Inborn genetic diseases ⚠
p.Pro559Ala Single submitter Inborn genetic diseases ⚠
p.Pro59Leu Single submitter Inborn genetic diseases ⚠
p.Pro640Thr Single submitter Inborn genetic diseases ⚠
p.Pro794Ser Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1 ⚠
p.Pro93His Single submitter ⚠
p.Pro958Thr Single submitter Inborn genetic diseases ⚠
p.Pro969Ala Single submitter Inborn genetic diseases ⚠
p.Ser1048Ile Single submitter Inborn genetic diseases ⚠
p.Ser1091Pro Single submitter Inborn genetic diseases ⚠
p.Ser1189Gly Single submitter Inborn genetic diseases ⚠
p.Ser1263Thr Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1 ⚠
p.Ser1292Phe Single submitter Inborn genetic diseases ⚠
p.Ser1299Asn Single submitter Inborn genetic diseases ⚠
p.Ser1333Cys Single submitter Inborn genetic diseases ⚠
p.Ser239Phe Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1 ⚠
p.Ser26Pro Single submitter Inborn genetic diseases ⚠
p.Ser432Thr Single submitter Inborn genetic diseases ⚠
p.Ser466Thr Single submitter Inborn genetic diseases ⚠
p.Ser545Leu Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1 ⚠
p.Ser653Arg Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1 ⚠
p.Ser655Pro Single submitter Inborn genetic diseases ⚠
p.Ser723Thr Single submitter Inborn genetic diseases ⚠
p.Ser723Tyr Single submitter Inborn genetic diseases ⚠
p.Ser728Asn Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1 ⚠
p.Ser923Arg Single submitter Inborn genetic diseases ⚠
p.Ser960Leu Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1 ⚠
p.Thr1006Ala Single submitter Inborn genetic diseases ⚠
p.Thr1031Pro Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1 ⚠
p.Thr1124= Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1
p.Thr1124Met Single submitter Inborn genetic diseases ⚠
p.Thr1145Ile Single submitter Inborn genetic diseases ⚠
p.Thr1168Ala Single submitter Inborn genetic diseases ⚠
p.Thr1340Pro Single submitter Inborn genetic diseases ⚠
p.Thr1343Met Single submitter Inborn genetic diseases ⚠
p.Thr215Met Single submitter Inborn genetic diseases ⚠
p.Thr323Lys Single submitter Inborn genetic diseases ⚠
p.Thr412Ala Single submitter Inborn genetic diseases ⚠
p.Thr412Ile Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1
p.Thr623Asn Single submitter Inborn genetic diseases
p.Thr685Ser Single submitter Inborn genetic diseases ⚠
p.Thr691Ala Single submitter Inborn genetic diseases ⚠
p.Thr926Met Single submitter Inborn genetic diseases ⚠
p.Trp1047Gly Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1 ⚠
p.Trp1232Ser Single submitter Inborn genetic diseases ⚠
p.Trp291Leu Single submitter Inborn genetic diseases ⚠
p.Trp602Leu Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1 ⚠
p.Trp690Arg Single submitter Inborn genetic diseases ⚠
p.Trp961Arg Single submitter Inborn genetic diseases ⚠
p.Trp961Gly Single submitter Inborn genetic diseases ⚠
p.Tyr1019Cys Single submitter Inborn genetic diseases ⚠
p.Tyr925His Single submitter Inborn genetic diseases ⚠
p.Tyr931Cys Single submitter Inborn genetic diseases
p.Val175Met Single submitter Inborn genetic diseases
p.Val198Met Single submitter gaze palsy, familial horizontal, with progressive scoliosis 1
p.Val237Glu Single submitter Inborn genetic diseases ⚠
p.Val237Ile Single submitter Inborn genetic diseases ⚠
p.Val265Met Single submitter Inborn genetic diseases ⚠
p.Val343Ile Single submitter ⚠
p.Val511Met Single submitter Inborn genetic diseases ⚠
p.Val522Leu Single submitter Inborn genetic diseases
p.Val522Met Single submitter Inborn genetic diseases
p.Val57Ile Single submitter Inborn genetic diseases ⚠
p.Val609Met Single submitter Inborn genetic diseases
p.Val688Ala Single submitter Inborn genetic diseases ⚠
p.Val775Leu Single submitter Inborn genetic diseases ⚠
p.Arg539Gln No assertion criteria ROBO3-related disorder ⚠
p.Cys909Trp No assertion criteria gaze palsy, familial horizontal, with progressive scoliosis 1 ⚠
p.Gly770Cys No assertion criteria ROBO3-related disorder
p.Pro967Ser No assertion criteria ROBO3-related disorder ⚠