CABP4 — 382 ClinVar variants
All ClinVar germline CABP4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 152 flagged for review →
19 Pathogenic · 5 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 28 Conflicting · 28 Benign · 3 Benign/Likely benign · 94 Likely benign · 199 Uncertain significance
Full CABP4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 152
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 9
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CABP4 p.Arg124Cys
Conflicting
Single submitter
cone-rod synaptic disorder, congenital nonprogressive
-
CABP4 p.Arg94His
Conflicting
Single submitter
cone-rod synaptic disorder, congenital nonprogressive
-
CABP4 p.Asn72His
Conflicting
Single submitter
cone-rod synaptic disorder, congenital nonprogressive
-
CABP4 p.Glu4Gln
Conflicting
Single submitter
cone-rod synaptic disorder, congenital nonprogressive
-
CABP4 p.Gly183Arg
Conflicting
Single submitter
cone-rod synaptic disorder, congenital nonprogressive
- CABP4 p.Gly63Ser Conflicting Single submitter
-
CABP4 p.Ile16Thr
Conflicting
Single submitter
Inborn genetic diseases
-
CABP4 p.Val263Ile
Conflicting
Single submitter
Inborn genetic diseases
-
CABP4 p.Asn258Ile
Conflicting
No assertion criteria
achromatopsia
Predictors lean, ClinVar uncertain 79
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CABP4 p.Ala107Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CABP4 p.Ala108Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CABP4 p.Arg180His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CABP4 p.Asn117Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CABP4 p.Gln109Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CABP4 p.Glu130Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CABP4 p.Glu139Lys
Uncertain significance
Multiple submitters
cone-rod synaptic disorder, congenital nonprogressive
-
CABP4 p.Gly77Ala
Uncertain significance
Multiple submitters
cone-rod synaptic disorder, congenital nonprogressive
-
CABP4 p.Ile177Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CABP4 p.Leu170Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CABP4 p.Thr160Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CABP4 p.Thr202Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CABP4 p.Ala23Gly Uncertain significance Single submitter
- CABP4 p.Ala83Pro Uncertain significance Single submitter
- CABP4 p.Ala83Thr Uncertain significance Single submitter
-
CABP4 p.Ala86Thr
Uncertain significance
Single submitter
inherited retinal dystrophy
-
CABP4 p.Arg118Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CABP4 p.Arg124Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- CABP4 p.Arg159Trp Uncertain significance Single submitter
- CABP4 p.Arg184His Uncertain significance Single submitter
- CABP4 p.Arg216Gln Uncertain significance Single submitter
- CABP4 p.Arg225Pro Uncertain significance Single submitter
-
CABP4 p.Arg41Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- CABP4 p.Arg52Gly Uncertain significance Single submitter
- CABP4 p.Arg7Ser Uncertain significance Single submitter
-
CABP4 p.Arg7Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- CABP4 p.Arg94Pro Uncertain significance Single submitter
- CABP4 p.Arg98Gly Uncertain significance Single submitter
- CABP4 p.Asp144Val Uncertain significance Single submitter
- CABP4 p.Asp223Gly Uncertain significance Single submitter
- CABP4 p.Asp260Tyr Uncertain significance Single submitter
- CABP4 p.Gln5His Uncertain significance Single submitter
-
CABP4 p.Gln95Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CABP4 p.Glu133Lys
Uncertain significance
Single submitter
cone-rod synaptic disorder, congenital nonprogressive
- CABP4 p.Glu167Lys Uncertain significance Single submitter
- CABP4 p.Glu189Lys Uncertain significance Single submitter
- CABP4 p.Glu217Gln Uncertain significance Single submitter
- CABP4 p.Glu267Lys Uncertain significance Single submitter
-
CABP4 p.Glu34Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CABP4 p.Glu65Gly
Uncertain significance
Single submitter
cone-rod synaptic disorder, congenital nonprogressive
- CABP4 p.Glu78Val Uncertain significance Single submitter
- CABP4 p.Gly113Arg Uncertain significance Single submitter
- CABP4 p.Gly121Arg Uncertain significance Single submitter
-
CABP4 p.Gly147Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- CABP4 p.Gly155Asp Uncertain significance Single submitter
- CABP4 p.Gly155Val Uncertain significance Single submitter
- CABP4 p.Gly162Asp Uncertain significance Single submitter
- CABP4 p.Gly182Asp Uncertain significance Single submitter
- CABP4 p.Gly207Trp Uncertain significance Single submitter
- CABP4 p.Gly47Arg Uncertain significance Single submitter
- CABP4 p.His99Leu Uncertain significance Single submitter
- CABP4 p.Ile16Val Uncertain significance Single submitter
- CABP4 p.Leu126Gln Uncertain significance Single submitter
-
CABP4 p.Leu131Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- CABP4 p.Leu134Phe Uncertain significance Single submitter
- CABP4 p.Leu193Pro Uncertain significance Single submitter
- CABP4 p.Leu272Arg Uncertain significance Single submitter
- CABP4 p.Leu48His Uncertain significance Single submitter
- CABP4 p.Lys20Arg Uncertain significance Single submitter
- CABP4 p.Lys29Arg Uncertain significance Single submitter
- CABP4 p.Met164Lys Uncertain significance Single submitter
-
CABP4 p.Met205Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- CABP4 p.Phe141Ile Uncertain significance Single submitter
- CABP4 p.Pro114Thr Uncertain significance Single submitter
- CABP4 p.Pro165Ala Uncertain significance Single submitter
- CABP4 p.Pro22Ala Uncertain significance Single submitter
- CABP4 p.Pro22Leu Uncertain significance Single submitter
- CABP4 p.Pro236Leu Uncertain significance Single submitter
-
CABP4 p.Pro246Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- CABP4 p.Pro36Arg Uncertain significance Single submitter
-
CABP4 p.Pro74Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- CABP4 p.Pro84Thr Uncertain significance Single submitter
- CABP4 p.Pro85Ser Uncertain significance Single submitter
- CABP4 p.Pro88Ser Uncertain significance Single submitter
- CABP4 p.Ser87Thr Uncertain significance Single submitter
- CABP4 p.Thr2Ala Uncertain significance Single submitter
- CABP4 p.Val185Ala Uncertain significance Single submitter
- CABP4 p.Val25Ala Uncertain significance Single submitter
- CABP4 p.Val25Ile Uncertain significance Single submitter
Predictors split 64
The independent predictors disagree with each other — read with care.
-
CABP4 p.Ala137Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CABP4 p.Ala203Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CABP4 p.Ala229Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CABP4 p.Ala234Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CABP4 p.Arg100His Benign Multiple submitters
-
CABP4 p.Arg152Gln
Likely benign
Multiple submitters
cone-rod synaptic disorder, congenital nonprogressive
-
CABP4 p.Arg152Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CABP4 p.Arg159Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CABP4 p.Arg180Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CABP4 p.Arg199Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CABP4 p.Arg212His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CABP4 p.Arg253Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CABP4 p.Arg274Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CABP4 p.Arg94Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CABP4 p.Leu243Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CABP4 p.Leu248Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CABP4 p.Pro242Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CABP4 p.Pro67Leu Uncertain significance Multiple submitters
-
CABP4 p.Ser87Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CABP4 p.Thr227Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CABP4 p.Ala229Thr Uncertain significance Single submitter
-
CABP4 p.Ala244Val
Conflicting
Single submitter
Inborn genetic diseases
- CABP4 p.Ala81Val Likely benign Single submitter
- CABP4 p.Arg124His Likely pathogenic Single submitter
- CABP4 p.Arg145Cys Uncertain significance Single submitter
- CABP4 p.Arg145His Uncertain significance Single submitter
- CABP4 p.Arg184Cys Uncertain significance Single submitter
- CABP4 p.Arg184Leu Uncertain significance Single submitter
- CABP4 p.Arg18Cys Uncertain significance Single submitter
-
CABP4 p.Arg209Leu
Conflicting
Single submitter
cone-rod synaptic disorder, congenital nonprogressive
-
CABP4 p.Arg225Gln
Uncertain significance
Single submitter
inherited retinal dystrophy
- CABP4 p.Arg232Gln Uncertain significance Single submitter
- CABP4 p.Arg274Gly Likely benign Single submitter
- CABP4 p.Arg46Thr Uncertain significance Single submitter
- CABP4 p.Arg49Gln Uncertain significance Single submitter
- CABP4 p.Arg52Gln Conflicting Single submitter
- CABP4 p.Arg98Gln Uncertain significance Single submitter
-
CABP4 p.Asn258Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- CABP4 p.Asp132Tyr Uncertain significance Single submitter
- CABP4 p.Asp146Asn Uncertain significance Single submitter
-
CABP4 p.Gln175Arg
Uncertain significance
Single submitter
cone-rod synaptic disorder, congenital nonprogressive
- CABP4 p.Glu125Lys Uncertain significance Single submitter
- CABP4 p.Glu129Lys Uncertain significance Single submitter
- CABP4 p.Glu200Lys Uncertain significance Single submitter
- CABP4 p.Glu250Lys Uncertain significance Single submitter
- CABP4 p.Gly147Ser Uncertain significance Single submitter
- CABP4 p.Gly182Ser Uncertain significance Single submitter
-
CABP4 p.Gly259Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- CABP4 p.His176Asp Uncertain significance Single submitter
- CABP4 p.His204Arg Uncertain significance Single submitter
- CABP4 p.Ile149Val Uncertain significance Single submitter
- CABP4 p.Ile177Thr Uncertain significance Single submitter
-
CABP4 p.Met205Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CABP4 p.Pro242Leu
Uncertain significance
Single submitter
inherited retinal dystrophy
- CABP4 p.Pro80Leu Uncertain significance Single submitter
- CABP4 p.Pro90Leu Uncertain significance Single submitter
- CABP4 p.Ser87Phe Uncertain significance Single submitter
-
CABP4 p.Thr202Met
Conflicting
Single submitter
inherited retinal dystrophy
-
CABP4 p.Thr2Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- CABP4 p.Thr38Ile Uncertain significance Single submitter
- CABP4 p.Val208Met Uncertain significance Single submitter
- CABP4 p.Val25Phe Uncertain significance Single submitter
-
CABP4 p.Ala203Glu
Uncertain significance
No assertion criteria
inherited retinal dystrophy
-
CABP4 p.Ala83Val
Uncertain significance
No assertion criteria
inherited retinal dystrophy
All CABP4 variants
Pathogenic 19
- p.Arg216Ter Multiple submitters eye disorder
- p.Arg225Ter Multiple submitters inherited retinal dystrophy
- p.Glu153fs Multiple submitters
- p.Pro28fs Multiple submitters cone-rod synaptic disorder, congenital nonprogressive
- c.366+1G>T Single submitter
- c.397+2T>A Single submitter
- c.541+1G>T Single submitter
- p.Ala23fs Single submitter
- p.Arg124fs Single submitter inherited retinal dystrophy
- p.Arg52Ter Single submitter cone-rod synaptic disorder, congenital nonprogressive
- p.Gln9fs Single submitter
- p.Glu139Ter Single submitter
- p.Glu169Ter Single submitter
- p.Glu247Ter Single submitter
- p.Glu78fs Single submitter
- p.Leu198fs Single submitter
- p.Leu231Pro Single submitter
- p.Pro114fs Single submitter
- p.Pro21fs No assertion criteria cone-rod synaptic disorder, congenital nonprogressive
Pathogenic/Likely pathogenic 5
- c.800_801delAG Multiple submitters cone-rod synaptic disorder, congenital nonprogressive
- p.Arg209Ter Multiple submitters cone-rod synaptic disorder, congenital nonprogressive
- p.Arg49Ter Multiple submitters cone-rod synaptic disorder, congenital nonprogressive
- p.Arg98Ter Multiple submitters cone-rod synaptic disorder, congenital nonprogressive
- p.Pro22fs Multiple submitters cone-rod synaptic disorder, congenital nonprogressive
Likely pathogenic 6
- c.542-17_542-2delinsGCCCACCATT Single submitter
- c.542-2A>C Single submitter
- c.652-2A>G Single submitter
- p.Ala86fs Single submitter cone-rod synaptic disorder, congenital nonprogressive
- p.Arg124His Single submitter ⚠
- c.800-18_*795del No assertion criteria inherited retinal dystrophy
Conflicting classifications of pathogenicity 28
- c.367-16G>A Single submitter cone-rod synaptic disorder, congenital nonprogressive
- c.367-8C>T Single submitter cone-rod synaptic disorder, congenital nonprogressive
- c.398-8C>T Single submitter cone-rod synaptic disorder, congenital nonprogressive
- c.651+15G>A Single submitter cone-rod synaptic disorder, congenital nonprogressive
- p.Ala23= Single submitter cone-rod synaptic disorder, congenital nonprogressive
- p.Ala244Val Single submitter Inborn genetic diseases ⚠
- p.Arg124Cys Single submitter cone-rod synaptic disorder, congenital nonprogressive ⚠
- p.Arg209Leu Single submitter cone-rod synaptic disorder, congenital nonprogressive ⚠
- p.Arg253Ter Single submitter inherited retinal dystrophy
- p.Arg52Gln Single submitter ⚠
- p.Arg94His Single submitter cone-rod synaptic disorder, congenital nonprogressive ⚠
- p.Asn72His Single submitter cone-rod synaptic disorder, congenital nonprogressive ⚠
- p.Asp106= Single submitter cone-rod synaptic disorder, congenital nonprogressive
- p.Glu34= Single submitter
- p.Glu4Gln Single submitter cone-rod synaptic disorder, congenital nonprogressive ⚠
- p.Gly183Arg Single submitter cone-rod synaptic disorder, congenital nonprogressive ⚠
- p.Gly63Ser Single submitter ⚠
- p.His105= Single submitter cone-rod synaptic disorder, congenital nonprogressive
- p.Ile16Thr Single submitter Inborn genetic diseases ⚠
- p.Ile177= Single submitter
- p.Leu193= Single submitter
- p.Leu272= Single submitter cone-rod synaptic disorder, congenital nonprogressive
- p.Ser103= Single submitter cone-rod synaptic disorder, congenital nonprogressive
- p.Ser174= Single submitter cone-rod synaptic disorder, congenital nonprogressive
- p.Thr202Met Single submitter inherited retinal dystrophy ⚠
- p.Thr76= Single submitter cone-rod synaptic disorder, congenital nonprogressive
- p.Val263Ile Single submitter Inborn genetic diseases ⚠
- p.Asn258Ile No assertion criteria achromatopsia ⚠
Benign 28
- c.541+7_541+8delinsGC Multiple submitters inherited retinal dystrophy
- c.541+7C>G Multiple submitters cone-rod synaptic disorder, congenital nonprogressive
- c.541+88C>G Multiple submitters
- c.541+8A>C Multiple submitters cone-rod synaptic disorder, congenital nonprogressive
- c.542-56C>T Multiple submitters
- c.800-5C>T Multiple submitters cone-rod synaptic disorder, congenital nonprogressive
- c.*119T>G Multiple submitters cone-rod synaptic disorder, congenital nonprogressive
- c.*120T>A Multiple submitters cone-rod synaptic disorder, congenital nonprogressive
- c.*1697A>G Multiple submitters cone-rod synaptic disorder, congenital nonprogressive
- p.Arg100His Multiple submitters ⚠
- p.Arg18His Multiple submitters cone-rod synaptic disorder, congenital nonprogressive
- p.Asp132= Multiple submitters
- p.Asp249= Multiple submitters cone-rod synaptic disorder, congenital nonprogressive
- p.Gly17Ala Multiple submitters
- c.541+7_541+8del Single submitter
- c.542-205G>C Single submitter
- c.651+151A>C Single submitter
- c.652-95AAATA[3] Single submitter
- c.-112-575A>C Single submitter
- c.*1435G>A Single submitter cone-rod synaptic disorder, congenital nonprogressive
- c.*1857T>C Single submitter cone-rod synaptic disorder, congenital nonprogressive
- c.*1859C>T Single submitter cone-rod synaptic disorder, congenital nonprogressive
- c.*2195G>A Single submitter cone-rod synaptic disorder, congenital nonprogressive
- c.*2327G>A Single submitter cone-rod synaptic disorder, congenital nonprogressive
- c.*2679A>G Single submitter cone-rod synaptic disorder, congenital nonprogressive
- c.*876G>A Single submitter cone-rod synaptic disorder, congenital nonprogressive
- c.*963C>T Single submitter cone-rod synaptic disorder, congenital nonprogressive
- p.Leu126= Single submitter
Benign/Likely benign 3
- c.652-11G>A Multiple submitters cone-rod synaptic disorder, congenital nonprogressive
- c.799+15C>T Multiple submitters cone-rod synaptic disorder, congenital nonprogressive
- p.Phe120= Multiple submitters cone-rod synaptic disorder, congenital nonprogressive
Likely benign 94
- c.800-37C>T Multiple submitters
- p.Ala23Val Multiple submitters Inborn genetic diseases
- p.Arg152Gln Multiple submitters cone-rod synaptic disorder, congenital nonprogressive ⚠
- c.366+11A>G Single submitter
- c.367-12C>T Single submitter
- c.367-14C>A Single submitter
- c.367-6C>T Single submitter
- c.397+11C>T Single submitter
- c.397+12T>C Single submitter
- c.398-20T>G Single submitter
- c.398-9C>T Single submitter
- c.541+11del Single submitter
- c.541+16C>T Single submitter
- c.541+17G>A Single submitter
- c.541+20C>T Single submitter
- c.541+6_541+7insG Single submitter
- c.541+7_541+8delinsGT Single submitter
- c.541+8A>T Single submitter
- c.542-10G>T Single submitter
- c.542-12C>A Single submitter
- c.542-4G>C Single submitter
- c.542-7T>C Single submitter
- c.542-8G>C Single submitter
- c.651+10G>A Single submitter
- c.651+17G>A Single submitter
- c.651+246T>G Single submitter
- c.652-10G>A Single submitter
- c.652-12C>T Single submitter
- c.652-17C>A Single submitter
- c.799+16G>A Single submitter
- c.799+20A>G Single submitter
- c.*1392T>C Single submitter cone-rod synaptic disorder, congenital nonprogressive
- c.*2186C>T Single submitter cone-rod synaptic disorder, congenital nonprogressive
- c.*2716T>C Single submitter cone-rod synaptic disorder, congenital nonprogressive
- p.Ala136= Single submitter
- p.Ala203= Single submitter
- p.Ala229= Single submitter
- p.Ala234= Single submitter
- p.Ala81= Single submitter
- p.Ala81Val Single submitter ⚠
- p.Ala83= Single submitter
- p.Arg118= Single submitter
- p.Arg124= Single submitter
- p.Arg159= Single submitter
- p.Arg199= Single submitter
- p.Arg274Gly Single submitter ⚠
- p.Asn72= Single submitter
- p.Asp146= Single submitter
- p.Asp264= Single submitter
- p.Cys157= Single submitter
- p.Glu133= Single submitter
- p.Glu210= Single submitter
- p.Glu65Lys Single submitter
- p.Glu78= Single submitter inherited retinal dystrophy
- p.Gly113= Single submitter
- p.Gly182= Single submitter
- p.Gly195= Single submitter
- p.Gly207Arg Single submitter inherited retinal dystrophy
- p.Gly240Arg Single submitter
- p.Gly79= Single submitter
- p.Gly8= Single submitter
- p.Gly82= Single submitter
- p.Ile213= Single submitter
- p.Leu131= Single submitter
- p.Leu14= Single submitter
- p.Leu239= Single submitter
- p.Leu37= Single submitter
- p.Lys29= Single submitter
- p.Lys43= Single submitter
- p.Phe138= Single submitter
- p.Pro12= Single submitter
- p.Pro128= Single submitter
- p.Pro165= Single submitter
- p.Pro236= Single submitter
- p.Pro242= Single submitter
- p.Pro246= Single submitter
- p.Pro35= Single submitter
- p.Pro36= Single submitter
- p.Pro64= Single submitter
- p.Pro67= Single submitter
- p.Pro80= Single submitter
- p.Pro88= Single submitter
- p.Pro90= Single submitter
- p.Ser69= Single submitter
- p.Ser92= Single submitter
- p.Ser96= Single submitter
- p.Thr111= Single submitter
- p.Thr166= Single submitter
- p.Thr202= Single submitter
- p.Thr227= Single submitter
- p.Thr262= Single submitter
- p.Thr62= Single submitter
- p.Tyr112= Single submitter
- p.Val263= Single submitter
Uncertain significance 199
- c.*1117C>A Multiple submitters cone-rod synaptic disorder, congenital nonprogressive
- c.*1158A>G Multiple submitters cone-rod synaptic disorder, congenital nonprogressive
- p.Ala107Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala108Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala137Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala203Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala229Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala234Val Multiple submitters Inborn genetic diseases ⚠
- p.Arg152Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg159Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg180Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg180His Multiple submitters Inborn genetic diseases ⚠
- p.Arg199Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg212His Multiple submitters Inborn genetic diseases ⚠
- p.Arg253Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg274Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg94Cys Multiple submitters Inborn genetic diseases ⚠
- p.Asn117Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gln109Arg Multiple submitters Inborn genetic diseases ⚠
- p.Glu130Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu139Lys Multiple submitters cone-rod synaptic disorder, congenital nonprogressive ⚠
- p.Gly77Ala Multiple submitters cone-rod synaptic disorder, congenital nonprogressive ⚠
- p.Ile177Asn Multiple submitters Inborn genetic diseases ⚠
- p.Leu170Phe Multiple submitters Inborn genetic diseases ⚠
- p.Leu243Arg Multiple submitters Inborn genetic diseases ⚠
- p.Leu248Pro Multiple submitters Inborn genetic diseases ⚠
- p.Pro242Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro67Leu Multiple submitters ⚠
- p.Ser87Cys Multiple submitters Inborn genetic diseases ⚠
- p.Thr160Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr202Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr227Met Multiple submitters Inborn genetic diseases ⚠
- c.366+10G>C Single submitter
- c.366+7T>C Single submitter
- c.541+14C>T Single submitter cone-rod synaptic disorder, congenital nonprogressive
- c.651+4C>T Single submitter
- c.651+5G>A Single submitter
- c.651+5G>C Single submitter
- c.799+7C>T Single submitter cone-rod synaptic disorder, congenital nonprogressive
- c.800-1G>A Single submitter
- c.800-2A>G Single submitter
- c.-27G>A Single submitter cone-rod synaptic disorder, congenital nonprogressive
- c.*1040C>A Single submitter cone-rod synaptic disorder, congenital nonprogressive
- c.*1063G>A Single submitter cone-rod synaptic disorder, congenital nonprogressive
- c.*1190T>C Single submitter cone-rod synaptic disorder, congenital nonprogressive
- c.*1223G>A Single submitter cone-rod synaptic disorder, congenital nonprogressive
- c.*1390C>T Single submitter cone-rod synaptic disorder, congenital nonprogressive
- c.*1402G>A Single submitter cone-rod synaptic disorder, congenital nonprogressive
- c.*1413C>T Single submitter cone-rod synaptic disorder, congenital nonprogressive
- c.*1510T>C Single submitter cone-rod synaptic disorder, congenital nonprogressive
- c.*1636A>G Single submitter cone-rod synaptic disorder, congenital nonprogressive
- c.*1662G>A Single submitter cone-rod synaptic disorder, congenital nonprogressive
- c.*1758G>A Single submitter cone-rod synaptic disorder, congenital nonprogressive
- c.*1827C>T Single submitter cone-rod synaptic disorder, congenital nonprogressive
- c.*1873C>T Single submitter cone-rod synaptic disorder, congenital nonprogressive
- c.*1933C>A Single submitter cone-rod synaptic disorder, congenital nonprogressive
- c.*1939A>G Single submitter cone-rod synaptic disorder, congenital nonprogressive
- c.*1957A>G Single submitter cone-rod synaptic disorder, congenital nonprogressive
- c.*2000A>G Single submitter cone-rod synaptic disorder, congenital nonprogressive
- c.*2004G>T Single submitter cone-rod synaptic disorder, congenital nonprogressive
- c.*2061C>T Single submitter cone-rod synaptic disorder, congenital nonprogressive
- c.*2065T>G Single submitter cone-rod synaptic disorder, congenital nonprogressive
- c.*2089T>C Single submitter cone-rod synaptic disorder, congenital nonprogressive
- c.*2098C>T Single submitter cone-rod synaptic disorder, congenital nonprogressive
- c.*2187G>C Single submitter cone-rod synaptic disorder, congenital nonprogressive
- c.*2331A>G Single submitter cone-rod synaptic disorder, congenital nonprogressive
- c.*2357A>G Single submitter cone-rod synaptic disorder, congenital nonprogressive
- c.*2438G>A Single submitter cone-rod synaptic disorder, congenital nonprogressive
- c.*2583C>T Single submitter cone-rod synaptic disorder, congenital nonprogressive
- c.*262C>G Single submitter cone-rod synaptic disorder, congenital nonprogressive
- c.*2668G>A Single submitter cone-rod synaptic disorder, congenital nonprogressive
- c.*26C>T Single submitter cone-rod synaptic disorder, congenital nonprogressive
- c.*2709G>A Single submitter cone-rod synaptic disorder, congenital nonprogressive
- c.*2836C>T Single submitter cone-rod synaptic disorder, congenital nonprogressive
- c.*2860A>T Single submitter cone-rod synaptic disorder, congenital nonprogressive
- c.*2886T>A Single submitter cone-rod synaptic disorder, congenital nonprogressive
- c.*2896T>C Single submitter cone-rod synaptic disorder, congenital nonprogressive
- c.*2905G>A Single submitter cone-rod synaptic disorder, congenital nonprogressive
- c.*2958T>C Single submitter cone-rod synaptic disorder, congenital nonprogressive
- c.*295G>A Single submitter cone-rod synaptic disorder, congenital nonprogressive
- c.*3043C>T Single submitter cone-rod synaptic disorder, congenital nonprogressive
- c.*324C>A Single submitter cone-rod synaptic disorder, congenital nonprogressive
- c.*394T>A Single submitter cone-rod synaptic disorder, congenital nonprogressive
- c.*408C>T Single submitter cone-rod synaptic disorder, congenital nonprogressive
- c.*62A>T Single submitter cone-rod synaptic disorder, congenital nonprogressive
- c.*669T>C Single submitter cone-rod synaptic disorder, congenital nonprogressive
- c.*681A>G Single submitter cone-rod synaptic disorder, congenital nonprogressive
- c.*683A>G Single submitter cone-rod synaptic disorder, congenital nonprogressive
- c.*702C>T Single submitter cone-rod synaptic disorder, congenital nonprogressive
- p.Ala229Thr Single submitter ⚠
- p.Ala23Gly Single submitter ⚠
- p.Ala83Pro Single submitter ⚠
- p.Ala83Thr Single submitter ⚠
- p.Ala86Thr Single submitter inherited retinal dystrophy ⚠
- p.Arg118Gln Single submitter Inborn genetic diseases ⚠
- p.Arg124Leu Single submitter Inborn genetic diseases ⚠
- p.Arg145Cys Single submitter ⚠
- p.Arg145His Single submitter ⚠
- p.Arg159Trp Single submitter ⚠
- p.Arg184Cys Single submitter ⚠
- p.Arg184His Single submitter ⚠
- p.Arg184Leu Single submitter ⚠
- p.Arg18Cys Single submitter ⚠
- p.Arg216Gln Single submitter ⚠
- p.Arg225Gln Single submitter inherited retinal dystrophy ⚠
- p.Arg225Pro Single submitter ⚠
- p.Arg232Gln Single submitter ⚠
- p.Arg41Lys Single submitter Inborn genetic diseases ⚠
- p.Arg46Thr Single submitter ⚠
- p.Arg49Gln Single submitter ⚠
- p.Arg52Gly Single submitter ⚠
- p.Arg7Ser Single submitter ⚠
- p.Arg7Thr Single submitter Inborn genetic diseases ⚠
- p.Arg94Pro Single submitter ⚠
- p.Arg98Gln Single submitter ⚠
- p.Arg98Gly Single submitter ⚠
- p.Asn258Ser Single submitter Inborn genetic diseases ⚠
- p.Asp132Tyr Single submitter ⚠
- p.Asp144= Single submitter cone-rod synaptic disorder, congenital nonprogressive
- p.Asp144Val Single submitter ⚠
- p.Asp146Asn Single submitter ⚠
- p.Asp223Gly Single submitter ⚠
- p.Asp260Tyr Single submitter ⚠
- p.Asp266= Single submitter
- p.Gln175Arg Single submitter cone-rod synaptic disorder, congenital nonprogressive ⚠
- p.Gln5His Single submitter ⚠
- p.Gln95Arg Single submitter Inborn genetic diseases ⚠
- p.Glu125Lys Single submitter ⚠
- p.Glu129Lys Single submitter ⚠
- p.Glu133Lys Single submitter cone-rod synaptic disorder, congenital nonprogressive ⚠
- p.Glu167Lys Single submitter ⚠
- p.Glu189Lys Single submitter ⚠
- p.Glu200Lys Single submitter ⚠
- p.Glu217Gln Single submitter ⚠
- p.Glu250Lys Single submitter ⚠
- p.Glu267Lys Single submitter ⚠
- p.Glu34Asp Single submitter Inborn genetic diseases ⚠
- p.Glu65Gly Single submitter cone-rod synaptic disorder, congenital nonprogressive ⚠
- p.Glu78Val Single submitter ⚠
- p.Gly113Arg Single submitter ⚠
- p.Gly121Arg Single submitter ⚠
- p.Gly147Arg Single submitter Inborn genetic diseases ⚠
- p.Gly147Ser Single submitter ⚠
- p.Gly155Asp Single submitter ⚠
- p.Gly155Val Single submitter ⚠
- p.Gly162Asp Single submitter ⚠
- p.Gly182Asp Single submitter ⚠
- p.Gly182Ser Single submitter ⚠
- p.Gly207_Leu211dup Single submitter congenital stationary night blindness
- p.Gly207Trp Single submitter ⚠
- p.Gly24= Single submitter
- p.Gly259Arg Single submitter Inborn genetic diseases ⚠
- p.Gly47Arg Single submitter ⚠
- p.Gly59= Single submitter
- p.His176Asp Single submitter ⚠
- p.His204Arg Single submitter ⚠
- p.His99Leu Single submitter ⚠
- p.Ile149Val Single submitter ⚠
- p.Ile16Val Single submitter ⚠
- p.Ile177Thr Single submitter ⚠
- p.Leu126Gln Single submitter ⚠
- p.Leu131Pro Single submitter Inborn genetic diseases ⚠
- p.Leu134Phe Single submitter ⚠
- p.Leu193Pro Single submitter ⚠
- p.Leu272Arg Single submitter ⚠
- p.Leu48His Single submitter ⚠
- p.Lys20Arg Single submitter ⚠
- p.Lys29Arg Single submitter ⚠
- p.Met164Lys Single submitter ⚠
- p.Met205Ile Single submitter Inborn genetic diseases ⚠
- p.Met205Leu Single submitter Inborn genetic diseases ⚠
- p.Phe141Ile Single submitter ⚠
- p.Pro114Thr Single submitter ⚠
- p.Pro165Ala Single submitter ⚠
- p.Pro22Ala Single submitter ⚠
- p.Pro22Leu Single submitter ⚠
- p.Pro236Leu Single submitter ⚠
- p.Pro242Leu Single submitter inherited retinal dystrophy ⚠
- p.Pro246Arg Single submitter Inborn genetic diseases ⚠
- p.Pro36Arg Single submitter ⚠
- p.Pro74Thr Single submitter Inborn genetic diseases ⚠
- p.Pro80Leu Single submitter ⚠
- p.Pro84Thr Single submitter ⚠
- p.Pro85Ser Single submitter ⚠
- p.Pro88Ser Single submitter ⚠
- p.Pro90Leu Single submitter ⚠
- p.Ser87Phe Single submitter ⚠
- p.Ser87Thr Single submitter ⚠
- p.Thr2Ala Single submitter ⚠
- p.Thr2Ile Single submitter Inborn genetic diseases ⚠
- p.Thr38Ile Single submitter ⚠
- p.Val185Ala Single submitter ⚠
- p.Val208Met Single submitter ⚠
- p.Val25Ala Single submitter ⚠
- p.Val25Ile Single submitter ⚠
- p.Val25Phe Single submitter ⚠
- c.367-9C>G No assertion criteria inherited retinal dystrophy
- p.Ala203Glu No assertion criteria inherited retinal dystrophy ⚠
- p.Ala83Val No assertion criteria inherited retinal dystrophy ⚠