CERKL — 1057 ClinVar variants
All ClinVar germline CERKL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 283 flagged for review →
66 Pathogenic · 45 Pathogenic/Likely pathogenic · 82 Likely pathogenic · 56 Conflicting · 34 Benign · 4 Benign/Likely benign · 420 Likely benign · 350 Uncertain significance
Full CERKL gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 283
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.
-
CERKL p.Arg106Cys
Pathogenic/Likely pathogenic
Multiple submitters
retinitis pigmentosa 26
-
CERKL p.Thr465Ala
Likely pathogenic
Single submitter
inherited retinal dystrophy
Predictors agree, ClinVar conflicts 23
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CERKL p.Ala197Ser
Conflicting
Single submitter
retinitis pigmentosa
-
CERKL p.Arg435Gln
Conflicting
Single submitter
Inborn genetic diseases
-
CERKL p.Arg45Gln
Conflicting
Single submitter
retinitis pigmentosa 26
-
CERKL p.Arg6Leu
Conflicting
Single submitter
retinitis pigmentosa
- CERKL p.Asp225Val Conflicting Single submitter
-
CERKL p.Asp500Asn
Conflicting
Single submitter
CERKL-related disorders
-
CERKL p.Gln376Pro
Conflicting
Single submitter
inherited retinal dystrophy
-
CERKL p.Glu14Ala
Conflicting
Single submitter
Inborn genetic diseases
-
CERKL p.Glu44Asp
Conflicting
Single submitter
retinitis pigmentosa
-
CERKL p.Glu484Asp
Conflicting
Single submitter
Inborn genetic diseases
-
CERKL p.Glu53Lys
Conflicting
Single submitter
retinitis pigmentosa
-
CERKL p.Ile98Val
Conflicting
Single submitter
Inborn genetic diseases
-
CERKL p.Leu122Arg
Conflicting
Single submitter
retinitis pigmentosa 26
-
CERKL p.Leu140Pro
Conflicting
Single submitter
CERKL-related disorders
-
CERKL p.Leu33Val
Conflicting
Single submitter
retinitis pigmentosa
-
CERKL p.Phe318Ser
Conflicting
Single submitter
retinitis pigmentosa 26
-
CERKL p.Phe348Ser
Conflicting
Single submitter
CERKL-related disorders
-
CERKL p.Pro166Leu
Conflicting
Single submitter
retinitis pigmentosa 26
-
CERKL p.Thr489Ser
Conflicting
Single submitter
inherited retinal dystrophy
-
CERKL p.Tyr522Asp
Conflicting
Single submitter
inherited retinal dystrophy
-
CERKL p.Tyr84His
Conflicting
Single submitter
Inborn genetic diseases
-
CERKL p.Tyr84Phe
Conflicting
Single submitter
retinitis pigmentosa
-
CERKL p.Val413Leu
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 202
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 202
-
CERKL c.677+613C>T
Uncertain significance
Multiple submitters
retinitis pigmentosa 26
-
CERKL c.677+621C>A
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
CERKL p.Ala12Thr
Uncertain significance
Multiple submitters
retinitis pigmentosa 26
- CERKL p.Ala312Thr Uncertain significance Multiple submitters
-
CERKL p.Ala31Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CERKL p.Ala355Thr Uncertain significance Multiple submitters
-
CERKL p.Ala419Thr
Uncertain significance
Multiple submitters
retinitis pigmentosa 26
- CERKL p.Ala434Ser Uncertain significance Multiple submitters
-
CERKL p.Arg257Gln
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
CERKL p.Arg345Gln
Uncertain significance
Multiple submitters
retinitis pigmentosa 26
-
CERKL p.Asn277Ser
Uncertain significance
Multiple submitters
retinitis pigmentosa 26
-
CERKL p.Gln38Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CERKL p.Gln398Glu
Uncertain significance
Multiple submitters
retinitis pigmentosa 26
-
CERKL p.Glu218Lys
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
CERKL p.Glu441Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CERKL p.Glu44Ala Uncertain significance Multiple submitters
-
CERKL p.Glu492Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CERKL p.Glu527Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CERKL p.Gly198Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CERKL p.Gly328Arg Uncertain significance Multiple submitters
-
CERKL p.Ile150Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CERKL p.Ile205Leu Uncertain significance Multiple submitters
-
CERKL p.Ile407Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CERKL p.Ile519Thr
Uncertain significance
Multiple submitters
retinitis pigmentosa 26
-
CERKL p.Ile73Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CERKL p.Leu122Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CERKL p.Leu283Pro
Uncertain significance
Multiple submitters
retinitis pigmentosa
-
CERKL p.Met206Thr
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- CERKL p.Met429Ile Uncertain significance Multiple submitters
-
CERKL p.Pro267Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CERKL p.Pro30Ser Uncertain significance Multiple submitters
- CERKL p.Pro473Leu Uncertain significance Multiple submitters
-
CERKL p.Pro531Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CERKL p.Pro78Arg Uncertain significance Multiple submitters
- CERKL p.Ser136Tyr Uncertain significance Multiple submitters
-
CERKL p.Ser282Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CERKL p.Ser383Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CERKL p.Thr116Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CERKL p.Thr201Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CERKL p.Thr255Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CERKL p.Thr291Ile
Uncertain significance
Multiple submitters
retinitis pigmentosa 26
-
CERKL p.Thr34Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CERKL p.Trp392Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CERKL p.Tyr187Cys
Uncertain significance
Multiple submitters
retinitis pigmentosa 26
- CERKL p.Tyr187Phe Uncertain significance Multiple submitters
-
CERKL p.Val185Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CERKL p.Val262Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CERKL p.Val306Leu Uncertain significance Multiple submitters
-
CERKL p.Val402Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CERKL c.677+552C>T
Uncertain significance
Single submitter
Inborn genetic diseases
- CERKL c.677+553A>G Uncertain significance Single submitter
- CERKL c.677+570G>A Uncertain significance Single submitter
- CERKL c.677+573A>G Uncertain significance Single submitter
- CERKL c.677+576C>T Uncertain significance Single submitter
-
CERKL c.677+577A>G
Uncertain significance
Single submitter
Inborn genetic diseases
- CERKL c.677+583G>A Uncertain significance Single submitter
-
CERKL c.677+590G>C
Uncertain significance
Single submitter
retinitis pigmentosa 26
-
CERKL c.677+610A>G
Uncertain significance
Single submitter
retinitis pigmentosa 26
- CERKL p.Ala12Asp Uncertain significance Single submitter
- CERKL p.Ala12Ser Uncertain significance Single submitter
- CERKL p.Ala21Glu Uncertain significance Single submitter
- CERKL p.Ala26Ser Uncertain significance Single submitter
- CERKL p.Ala280Ser Uncertain significance Single submitter
- CERKL p.Ala292Ser Uncertain significance Single submitter
- CERKL p.Ala406Val Uncertain significance Single submitter
- CERKL p.Ala414Ser Uncertain significance Single submitter
- CERKL p.Ala450Thr Uncertain significance Single submitter
- CERKL p.Ala450Val Uncertain significance Single submitter
- CERKL p.Arg257Gly Uncertain significance Single submitter
- CERKL p.Arg346Lys Uncertain significance Single submitter
- CERKL p.Arg378Lys Uncertain significance Single submitter
-
CERKL p.Arg423Lys
Uncertain significance
Single submitter
retinitis pigmentosa 26
- CERKL p.Arg513Lys Uncertain significance Single submitter
- CERKL p.Arg513Thr Uncertain significance Single submitter
-
CERKL p.Arg6Cys
Uncertain significance
Single submitter
retinitis pigmentosa 26
- CERKL p.Arg71Gln Uncertain significance Single submitter
-
CERKL p.Arg77Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- CERKL p.Asn277Lys Uncertain significance Single submitter
- CERKL p.Asn370Asp Uncertain significance Single submitter
- CERKL p.Asn370Ser Uncertain significance Single submitter
-
CERKL p.Asn389Ser
Uncertain significance
Single submitter
retinitis pigmentosa 26
-
CERKL p.Asn457Ser
Uncertain significance
Single submitter
inherited retinal dystrophy
-
CERKL p.Asn475Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CERKL p.Asn476Asp
Uncertain significance
Single submitter
inherited retinal dystrophy
-
CERKL p.Asn481Ser
Uncertain significance
Single submitter
inherited retinal dystrophy
-
CERKL p.Asp374Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- CERKL p.Asp387His Uncertain significance Single submitter
- CERKL p.Asp500Ala Uncertain significance Single submitter
- CERKL p.Asp81Val Uncertain significance Single submitter
- CERKL p.Cys219Tyr Uncertain significance Single submitter
-
CERKL p.Cys411Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- CERKL p.Cys88Gly Uncertain significance Single submitter
- CERKL p.Gln130Arg Uncertain significance Single submitter
-
CERKL p.Gln302His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CERKL p.Gln391Glu
Uncertain significance
Single submitter
inherited retinal dystrophy
- CERKL p.Gln455Lys Uncertain significance Single submitter
- CERKL p.Glu129Gly Uncertain significance Single submitter
-
CERKL p.Glu14Gly
Uncertain significance
Single submitter
retinitis pigmentosa 26
-
CERKL p.Glu181Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- CERKL p.Glu181Val Uncertain significance Single submitter
-
CERKL p.Glu19Asp
Uncertain significance
Single submitter
retinitis pigmentosa 26
- CERKL p.Glu207Lys Uncertain significance Single submitter
- CERKL p.Glu363Lys Uncertain significance Single submitter
- CERKL p.Glu40Lys Uncertain significance Single submitter
- CERKL p.Glu467Lys Uncertain significance Single submitter
-
CERKL p.Glu485Gly
Uncertain significance
Single submitter
retinitis pigmentosa 26
- CERKL p.Glu486Lys Uncertain significance Single submitter
- CERKL p.Glu76Gln Uncertain significance Single submitter
-
CERKL p.Glu91Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CERKL p.Glu91Gly
Uncertain significance
Single submitter
inherited retinal dystrophy
-
CERKL p.Gly15Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CERKL p.Gly223Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- CERKL p.Gly231Arg Uncertain significance Single submitter
- CERKL p.Gly427Glu Uncertain significance Single submitter
-
CERKL p.Gly55Arg
Uncertain significance
Single submitter
retinitis pigmentosa 26
- CERKL p.Gly80Ala Uncertain significance Single submitter
-
CERKL p.Gly80Ser
Uncertain significance
Single submitter
retinitis pigmentosa 26
- CERKL p.His281Tyr Uncertain significance Single submitter
- CERKL p.His472Arg Uncertain significance Single submitter
- CERKL p.His511Leu Uncertain significance Single submitter
- CERKL p.Ile141Asn Uncertain significance Single submitter
- CERKL p.Ile141Leu Uncertain significance Single submitter
-
CERKL p.Ile141Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- CERKL p.Ile150Met Uncertain significance Single submitter
- CERKL p.Ile205Thr Uncertain significance Single submitter
- CERKL p.Ile290Thr Uncertain significance Single submitter
- CERKL p.Ile296Val Uncertain significance Single submitter
- CERKL p.Ile443Met Uncertain significance Single submitter
- CERKL p.Ile46Phe Uncertain significance Single submitter
- CERKL p.Ile530Thr Uncertain significance Single submitter
- CERKL p.Ile54Val Uncertain significance Single submitter
- CERKL p.Ile93Met Uncertain significance Single submitter
- CERKL p.Leu138Arg Uncertain significance Single submitter
-
CERKL p.Leu193Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CERKL p.Leu196Val
Uncertain significance
Single submitter
Inborn genetic diseases
- CERKL p.Leu216Pro Uncertain significance Single submitter
-
CERKL p.Leu221Pro
Uncertain significance
Single submitter
retinitis pigmentosa 26
-
CERKL p.Leu245Pro
Uncertain significance
Single submitter
retinitis pigmentosa 26
-
CERKL p.Leu270Val
Uncertain significance
Single submitter
retinitis pigmentosa 26
- CERKL p.Leu424Phe Uncertain significance Single submitter
-
CERKL p.Leu431Val
Uncertain significance
Single submitter
retinitis pigmentosa 26
- CERKL p.Leu446Gln Uncertain significance Single submitter
- CERKL p.Leu521Pro Uncertain significance Single submitter
- CERKL p.Leu87Ile Uncertain significance Single submitter
-
CERKL p.Lys128Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
CERKL p.Lys156Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- CERKL p.Lys200Glu Uncertain significance Single submitter
- CERKL p.Lys314Asn Uncertain significance Single submitter
- CERKL p.Lys83Glu Uncertain significance Single submitter
-
CERKL p.Met323Lys
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 56
The independent predictors disagree with each other — read with care.
- CERKL p.Ala212Thr Uncertain significance Multiple submitters
-
CERKL p.Ala355Glu
Uncertain significance
Multiple submitters
retinitis pigmentosa 26
-
CERKL p.Arg105Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CERKL p.Arg106Ser
Pathogenic/Likely pathogenic
Multiple submitters
CERKL-related disorders
-
CERKL p.Arg338Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CERKL p.Arg439Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CERKL p.Gly327Asp Uncertain significance Multiple submitters
-
CERKL p.Gly50Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CERKL p.His284Arg Uncertain significance Multiple submitters
-
CERKL p.His515Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CERKL p.Ile98Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CERKL p.Leu514Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CERKL p.Ser237Arg Uncertain significance Multiple submitters
-
CERKL p.Ser365Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CERKL p.Ser64Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CERKL p.Val61Glu
Pathogenic/Likely pathogenic
Multiple submitters
retinitis pigmentosa 26
- CERKL p.Val61Met Uncertain significance Multiple submitters
-
CERKL p.Ala414Gly
Uncertain significance
Single submitter
retinitis pigmentosa 26
-
CERKL p.Arg105Trp
Conflicting
Single submitter
inherited retinal dystrophy
-
CERKL p.Arg106His
Conflicting
Single submitter
CERKL-related disorders
- CERKL p.Arg246Ser Uncertain significance Single submitter
-
CERKL p.Arg317Cys
Conflicting
Single submitter
retinitis pigmentosa 26
-
CERKL p.Arg317His
Conflicting
Single submitter
retinitis pigmentosa
- CERKL p.Arg317Ser Uncertain significance Single submitter
- CERKL p.Asn142Tyr Conflicting Single submitter
- CERKL p.Asn454Thr Uncertain significance Single submitter
- CERKL p.Asp256Tyr Uncertain significance Single submitter
-
CERKL p.Asp60Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- CERKL p.Cys362Tyr Uncertain significance Single submitter
-
CERKL p.Glu207Val
Uncertain significance
Single submitter
retinitis pigmentosa 26
- CERKL p.Gly252Ala Uncertain significance Single submitter
-
CERKL p.Gly55Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CERKL p.Ile433Asn
Uncertain significance
Single submitter
retinitis pigmentosa 26
- CERKL p.Ile54Met Uncertain significance Single submitter
- CERKL p.Leu173Phe Uncertain significance Single submitter
- CERKL p.Leu315His Uncertain significance Single submitter
- CERKL p.Leu518Phe Uncertain significance Single submitter
- CERKL p.Lys134Asn Uncertain significance Single submitter
- CERKL p.Met405Ile Uncertain significance Single submitter
-
CERKL p.Met405Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CERKL p.Phe152Leu
Uncertain significance
Single submitter
retinitis pigmentosa
-
CERKL p.Pro175Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- CERKL p.Pro175Thr Uncertain significance Single submitter
- CERKL p.Pro192Leu Uncertain significance Single submitter
- CERKL p.Pro261Arg Uncertain significance Single submitter
- CERKL p.Pro368Leu Uncertain significance Single submitter
-
CERKL p.Ser508Leu
Conflicting
Single submitter
Inborn genetic diseases
- CERKL p.Tyr208Cys Uncertain significance Single submitter
- CERKL p.Tyr464Asp Uncertain significance Single submitter
-
CERKL p.Tyr464Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CERKL p.Val61Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CERKL p.Ala242Val
Uncertain significance
No assertion criteria
retinitis pigmentosa 26
-
CERKL p.Asn426Lys
Uncertain significance
No assertion criteria
retinitis pigmentosa 26
-
CERKL p.Glu462Asp
Uncertain significance
No assertion criteria
retinitis pigmentosa 26
-
CERKL p.Leu196Pro
Uncertain significance
No assertion criteria
retinitis pigmentosa 26
-
CERKL p.Lys156Asn
Uncertain significance
No assertion criteria
retinitis pigmentosa 26
All CERKL variants
Pathogenic 66
- c.238+1G>A Multiple submitters CERKL-related disorders
- p.Arg338Ter Multiple submitters CERKL-related disorders
- p.Cys307Ter Multiple submitters retinitis pigmentosa 26
- p.Cys362_Glu363delinsTer Multiple submitters retinitis pigmentosa 26
- p.Gln112Ter Multiple submitters retinitis pigmentosa 26
- p.Gln455Ter Multiple submitters
- p.Glu468_Val469insTer Multiple submitters retinitis pigmentosa 26
- p.Glu488Ter Multiple submitters retinitis pigmentosa 26
- p.Glu53Ter Multiple submitters CERKL-related disorders
- p.Glu65Ter Multiple submitters CERKL-related disorders
- p.Lys189fs Multiple submitters retinitis pigmentosa 26
- p.Lys200Ter Multiple submitters CERKL-related disorders
- p.Met1Thr Multiple submitters retinitis pigmentosa 26
- p.Met253fs Multiple submitters retinitis pigmentosa 26
- p.Met323fs Multiple submitters CERKL-related disorders
- p.Pro261fs Multiple submitters retinitis pigmentosa
- p.Ser321fs Multiple submitters CERKL-related disorders
- p.Thr465fs Multiple submitters retinitis pigmentosa 26
- p.Trp151Ter Multiple submitters inherited retinal dystrophy
- p.Val351fs Multiple submitters retinitis pigmentosa 26
- c.(238+1_239-1 Single submitter inherited retinal dystrophy
- c.481+1G>T Single submitter
- c.677+609C>T Single submitter
- c.678-1G>C Single submitter
- c.820+2C>A Single submitter
- p.Ala212fs Single submitter
- p.Ala26fs Single submitter retinitis pigmentosa 26
- p.Ala27fs Single submitter
- p.Ala322fs Single submitter
- p.Ala380fs Single submitter
- p.Arg379fs Single submitter
- p.Arg56fs Single submitter
- p.Arg66fs Single submitter
- p.Asn164fs Single submitter
- p.Asp347fs Single submitter
- p.Gln111Ter Single submitter
- p.Gln176fs Single submitter
- p.Gln265Ter Single submitter
- p.Glu14fs Single submitter
- p.Glu181Leu Single submitter cone-rod dystrophy
- p.Gly119fs Single submitter
- p.Gly382fs Single submitter
- p.Gly478fs Single submitter
- p.His211fs Single submitter
- p.His288fs Single submitter
- p.Leu126Ter Single submitter
- p.Leu169fs Single submitter
- p.Leu279fs Single submitter
- p.Leu331Ter Single submitter
- p.Leu367fs Single submitter
- p.Lys104fs Single submitter
- p.Lys127Ter Single submitter
- p.Lys217Ter Single submitter
- p.Lys249fs Single submitter
- p.Lys249Ter Single submitter
- p.Met1Ile Single submitter
- p.Met1Lys Single submitter
- p.Phe456fs Single submitter
- p.Pro342fs Single submitter
- p.Pro459fs Single submitter
- p.Ser168_Leu169insTer Single submitter
- p.Trp497Ter Single submitter
- p.Trp70Ter Single submitter
- p.Tyr187Ter Single submitter
- p.Gln396fs No assertion criteria Autosomal recessive retinitis pigmentosa
- p.Lys444fs No assertion criteria inherited retinal dystrophy
Pathogenic/Likely pathogenic 45
- c.1073+3_1073+6del Multiple submitters inherited retinal dystrophy
- c.1074-1G>C Multiple submitters CERKL-related disorders
- c.237_238+13del Multiple submitters CERKL-related disorders
- c.239-1G>A Multiple submitters retinitis pigmentosa 26
- c.239-2A>G Multiple submitters CERKL-related disorders
- c.481+2T>G Multiple submitters cone dystrophy
- c.677+562del Multiple submitters retinitis pigmentosa 26
- c.678-1G>A Multiple submitters retinitis pigmentosa 26
- c.820+2C>G Multiple submitters retinitis pigmentosa 26
- p.Arg106Cys Multiple submitters retinitis pigmentosa 26 ⚠
- p.Arg106Ser Multiple submitters CERKL-related disorders ⚠
- p.Arg257Ter Multiple submitters CERKL-related disorders
- p.Arg435Ter Multiple submitters CERKL-related disorders
- p.Asn142fs Multiple submitters CERKL-related disorders
- p.Asn454fs Multiple submitters retinitis pigmentosa 26
- p.Cys107_Ser108insTer Multiple submitters retinitis pigmentosa 26
- p.Cys125Trp Multiple submitters retinitis pigmentosa 26
- p.Cys409Ter Multiple submitters retinitis pigmentosa 26
- p.Gln176Ter Multiple submitters retinitis pigmentosa 26
- p.Gln184Ter Multiple submitters CERKL-related disorders
- p.Gln37Ter Multiple submitters retinitis pigmentosa 26
- p.Gln38Ter Multiple submitters retinitis pigmentosa 26
- p.Gln393Ter Multiple submitters retinitis pigmentosa
- p.Gln74fs Multiple submitters retinitis pigmentosa 26
- p.Glu254Ter Multiple submitters CERKL-related disorders
- p.Glu91Ter Multiple submitters CERKL-related disorders
- p.Gly119Asp Multiple submitters retinitis pigmentosa 26
- p.Ile150fs Multiple submitters retinitis pigmentosa 26
- p.Leu133fs Multiple submitters CERKL-related disorders
- p.Leu216fs Multiple submitters retinitis pigmentosa 26
- p.Leu283fs Multiple submitters retinitis pigmentosa 26
- p.Leu32fs Multiple submitters retinitis pigmentosa 26
- p.Leu33Ter Multiple submitters retinitis pigmentosa
- p.Leu68fs Multiple submitters CERKL-related disorders
- p.Lys132fs Multiple submitters retinitis pigmentosa 26
- p.Met1Arg Multiple submitters retinitis pigmentosa 26
- p.Phe123fs Multiple submitters retinitis pigmentosa 26
- p.Phe99fs Multiple submitters retinitis pigmentosa 26
- p.Trp3Ter Multiple submitters retinitis pigmentosa 26
- p.Tyr449Ter Multiple submitters retinitis pigmentosa 26
- p.Tyr464fs Multiple submitters retinitis pigmentosa
- p.Tyr464Ter Multiple submitters retinitis pigmentosa 26
- p.Tyr522fs Multiple submitters retinitis pigmentosa 26
- p.Val190fs Multiple submitters retinitis pigmentosa 26
- p.Val61Glu Multiple submitters retinitis pigmentosa 26 ⚠
Likely pathogenic 82
- c.1074-2A>C Multiple submitters retinitis pigmentosa 26
- c.1074-2A>G Multiple submitters retinitis pigmentosa 26
- c.1133+2del Multiple submitters retinitis pigmentosa 26
- c.1365+1G>A Multiple submitters CERKL-related disorders
- c.1366-1G>A Multiple submitters retinitis pigmentosa 26
- c.1366-1G>T Multiple submitters retinitis pigmentosa 26
- c.1366-2A>G Multiple submitters retinitis pigmentosa 26
- c.677+1G>A Multiple submitters retinitis pigmentosa 26
- c.677+547G>A Multiple submitters retinitis pigmentosa 26
- c.677+547G>C Multiple submitters retinitis pigmentosa 26
- c.895+1G>A Multiple submitters retinitis pigmentosa 26
- c.896-1G>A Multiple submitters CERKL-related disorders
- c.896-2A>T Multiple submitters retinitis pigmentosa 26
- p.Glu129Ter Multiple submitters retinitis pigmentosa 26
- p.Glu218fs Multiple submitters retinitis pigmentosa 26
- p.Gly232fs Multiple submitters retinitis pigmentosa 26
- p.Gly417fs Multiple submitters retinitis pigmentosa 26
- p.Ser520fs Multiple submitters retinitis pigmentosa 26
- p.Tyr522Ter Multiple submitters retinitis pigmentosa 26
- c.1073+1G>A Single submitter retinitis pigmentosa 26
- c.1133+1G>A Single submitter
- c.1133+1G>T Single submitter
- c.1159+1G>A Single submitter retinitis pigmentosa 26
- c.1160-1del Single submitter retinitis pigmentosa 26
- c.1160-2A>G Single submitter retinitis pigmentosa 26
- c.1268+2T>A Single submitter
- c.1365+2T>C Single submitter retinitis pigmentosa 26
- c.1366-2A>C Single submitter retinitis pigmentosa 26
- c.1366-2A>T Single submitter
- c.1539-16_1552inv Single submitter retinitis pigmentosa 26
- c.1539-9_1552delinsGCAATCTGTAAAGAAAATACA Single submitter retinitis pigmentosa 26
- c.238+1G>T Single submitter retinitis pigmentosa 26
- c.239-2A>C Single submitter retinitis pigmentosa 26
- c.481+1G>A Single submitter retinitis pigmentosa 26
- c.482-1G>A Single submitter retinitis pigmentosa 26
- c.613+1G>C Single submitter retinitis pigmentosa 26
- c.613+2T>C Single submitter retinitis pigmentosa 26
- c.614-2A>G Single submitter CERKL-related disorders
- c.677+2del Single submitter retinitis pigmentosa 26
- c.677+3A>G Single submitter Severe photosensitivity
- c.677+547del Single submitter
- c.677+618_677+641del Single submitter
- c.677+626G>A Single submitter
- c.678-1G>T Single submitter retinitis pigmentosa 26
- c.820+1G>T Single submitter retinitis pigmentosa 26
- c.821-2A>G Single submitter
- c.884_895+10del Single submitter retinitis pigmentosa 26
- c.896-2A>G Single submitter
- p.Ala280fs Single submitter CERKL-related disorders
- p.Arg113fs Single submitter retinitis pigmentosa 26
- p.Arg49fs Single submitter retinitis pigmentosa 26
- p.Arg66Ter Single submitter inherited retinal dystrophy
- p.Asp149fs Single submitter retinitis pigmentosa 26
- p.Cys125Phe Single submitter CERKL-related disorders
- p.Gln130Ter Single submitter retinitis pigmentosa 26
- p.Gln376Ter Single submitter retinitis pigmentosa 26
- p.Glu181Ter Single submitter retinitis pigmentosa 26
- p.Glu18fs Single submitter retinitis pigmentosa 26
- p.Glu492Ter Single submitter retinitis pigmentosa 26
- p.Glu91fs Single submitter retinitis pigmentosa 26
- p.His445fs Single submitter retinitis pigmentosa 26
- p.Ile141fs Single submitter retinitis pigmentosa
- p.Ile271fs Single submitter retinitis pigmentosa 26
- p.Ile271Thr Single submitter retinitis pigmentosa 26
- p.Ile512fs Single submitter retinitis pigmentosa 26
- p.Leu143Ter Single submitter retinitis pigmentosa 26
- p.Leu213fs Single submitter retinitis pigmentosa 26
- p.Lys102Ter Single submitter retinitis pigmentosa 26
- p.Lys189Ser Single submitter CERKL-related disorders
- p.Lys96fs Single submitter retinitis pigmentosa 26
- p.Pro166Arg Single submitter
- p.Ser451fs Single submitter retinitis pigmentosa 26
- p.Thr276fs Single submitter retinitis pigmentosa 26
- p.Thr293fs Single submitter retinitis pigmentosa
- p.Thr465Ala Single submitter inherited retinal dystrophy ⚠
- p.Trp392Ter Single submitter retinitis pigmentosa 26
- p.Trp3fs Single submitter retinitis pigmentosa 26
- p.Tyr337fs Single submitter retinitis pigmentosa 26
- p.Tyr84Ter Single submitter CERKL-related disorders
- c.1269-3C>G No assertion criteria inherited retinal dystrophy
- c.(?_-1 No assertion criteria inherited retinal dystrophy
- p.Gly232Arg No assertion criteria cone-rod dystrophy
Conflicting classifications of pathogenicity 56
- c.1073+11T>C Single submitter retinitis pigmentosa
- c.1074-6T>C Single submitter
- c.1159+3G>A Single submitter
- c.1160-10T>G Single submitter CERKL-related disorders
- c.1365+4T>C Single submitter
- c.1539-27_1550inv Single submitter
- c.1539-5T>A Single submitter retinitis pigmentosa
- c.1539-5T>G Single submitter
- c.677+569C>T Single submitter inherited retinal dystrophy
- c.677+581G>A Single submitter inherited retinal dystrophy
- c.820+9G>A Single submitter retinitis pigmentosa
- c.895+13C>T Single submitter retinitis pigmentosa
- p.Ala197Ser Single submitter retinitis pigmentosa ⚠
- p.Arg105Trp Single submitter inherited retinal dystrophy ⚠
- p.Arg106His Single submitter CERKL-related disorders ⚠
- p.Arg317Cys Single submitter retinitis pigmentosa 26 ⚠
- p.Arg317His Single submitter retinitis pigmentosa ⚠
- p.Arg435Gln Single submitter Inborn genetic diseases ⚠
- p.Arg439Trp Single submitter retinitis pigmentosa 26
- p.Arg45Gln Single submitter retinitis pigmentosa 26 ⚠
- p.Arg474fs Single submitter retinitis pigmentosa 26
- p.Arg5= Single submitter retinitis pigmentosa
- p.Arg6Leu Single submitter retinitis pigmentosa ⚠
- p.Asn142Tyr Single submitter ⚠
- p.Asp225Val Single submitter ⚠
- p.Asp500= Single submitter retinitis pigmentosa
- p.Asp500Asn Single submitter CERKL-related disorders ⚠
- p.Asp60= Single submitter retinitis pigmentosa
- p.Gln376Pro Single submitter inherited retinal dystrophy ⚠
- p.Glu14Ala Single submitter Inborn genetic diseases ⚠
- p.Glu20= Single submitter
- p.Glu44Asp Single submitter retinitis pigmentosa ⚠
- p.Glu484Asp Single submitter Inborn genetic diseases ⚠
- p.Glu486del Single submitter inherited retinal dystrophy
- p.Glu53Lys Single submitter retinitis pigmentosa ⚠
- p.Gly523fs Single submitter isolated macular dystrophy
- p.His300= Single submitter retinitis pigmentosa
- p.Ile519fs Single submitter retinitis pigmentosa 26
- p.Ile98Val Single submitter Inborn genetic diseases ⚠
- p.Leu122Arg Single submitter retinitis pigmentosa 26 ⚠
- p.Leu140Pro Single submitter CERKL-related disorders ⚠
- p.Leu245= Single submitter retinitis pigmentosa
- p.Leu33Val Single submitter retinitis pigmentosa ⚠
- p.Lys180= Single submitter retinitis pigmentosa
- p.Lys532= Single submitter retinitis pigmentosa
- p.Phe318Ser Single submitter retinitis pigmentosa 26 ⚠
- p.Phe348Ser Single submitter CERKL-related disorders ⚠
- p.Pro166Leu Single submitter retinitis pigmentosa 26 ⚠
- p.Pro261= Single submitter retinitis pigmentosa
- p.Ser508Leu Single submitter Inborn genetic diseases ⚠
- p.Thr489Ser Single submitter inherited retinal dystrophy ⚠
- p.Tyr187_Val190delinsPhe Single submitter retinitis pigmentosa 26
- p.Tyr522Asp Single submitter inherited retinal dystrophy ⚠
- p.Tyr84His Single submitter Inborn genetic diseases ⚠
- p.Tyr84Phe Single submitter retinitis pigmentosa ⚠
- p.Val413Leu Single submitter Inborn genetic diseases ⚠
Benign 34
- c.1133+13T>C Multiple submitters retinitis pigmentosa
- c.1133+16A>G Multiple submitters
- c.1133+34G>A Multiple submitters
- c.1134-45G>A Multiple submitters
- c.1269-25G>A Multiple submitters
- c.239-12T>A Multiple submitters retinitis pigmentosa
- c.239-49T>C Multiple submitters retinitis pigmentosa 26
- c.239-4dup Multiple submitters retinitis pigmentosa 26
- c.677+566G>T Multiple submitters retinitis pigmentosa 26
- c.677+578T>C Multiple submitters
- c.677+665G>T Multiple submitters retinitis pigmentosa 26
- c.821-87A>C Multiple submitters
- c.895+3A>G Multiple submitters retinitis pigmentosa
- c.896-18T>A Multiple submitters retinitis pigmentosa 26
- c.*1159C>T Multiple submitters retinitis pigmentosa
- c.*121C>T Multiple submitters retinitis pigmentosa
- c.*1345G>A Multiple submitters retinitis pigmentosa
- c.*420G>A Multiple submitters retinitis pigmentosa
- c.*880G>A Multiple submitters retinitis pigmentosa
- p.Asp502= Multiple submitters retinitis pigmentosa
- p.Asp81Ala Multiple submitters retinitis pigmentosa 26
- p.Phe52= Multiple submitters inherited retinal dystrophy
- p.Ser100Ala Multiple submitters retinitis pigmentosa 26
- c.1134-67GT[10] Single submitter
- c.1134-67GT[11] Single submitter
- c.1134-67GT[12] Single submitter
- c.1268+16del Single submitter
- c.1538+26_1538+27insA Single submitter
- c.238+16del Single submitter
- c.238+16dup Single submitter
- c.482-12del Single submitter
- c.614-6del Single submitter
- c.896-18T>C Single submitter retinitis pigmentosa 26
- c.*347A>G Single submitter retinitis pigmentosa
Benign/Likely benign 4
- c.238+16C>G Multiple submitters
- p.Ala67Thr Multiple submitters retinitis pigmentosa
- p.Glu488Gly Multiple submitters retinitis pigmentosa
- p.Pro23= Multiple submitters
Likely benign 420
Showing the top 300 by review status; the full set is in the sitemap.
- c.1159+8G>A Multiple submitters inherited retinal dystrophy
- c.1160-17A>G Multiple submitters
- c.1160-18C>G Multiple submitters
- c.1268+20G>C Multiple submitters
- c.1538+20C>T Multiple submitters
- c.1538+7C>T Multiple submitters
- c.1539-15G>A Multiple submitters
- c.1539-20A>C Multiple submitters
- c.238+10C>G Multiple submitters
- c.238+20C>T Multiple submitters
- c.239-4T>C Multiple submitters
- c.482-19C>A Multiple submitters
- c.613+12T>G Multiple submitters
- c.614-13G>T Multiple submitters
- c.614-21GT[3] Multiple submitters
- c.677+19C>G Multiple submitters
- c.677+530T>C Multiple submitters
- c.677+533G>T Multiple submitters
- c.677+551G>A Multiple submitters
- c.820+10T>C Multiple submitters retinitis pigmentosa 26
- c.896-12G>A Multiple submitters
- c.896-85A>C Multiple submitters
- p.Ala26= Multiple submitters
- p.Ala332= Multiple submitters retinitis pigmentosa 26
- p.Ala79= Multiple submitters
- p.Arg416= Multiple submitters
- p.Gln381= Multiple submitters inherited retinal dystrophy
- p.His211= Multiple submitters
- p.Leu140= Multiple submitters
- p.Pro166= Multiple submitters
- p.Pro30= Multiple submitters
- p.Pro78= Multiple submitters
- p.Ser282= Multiple submitters
- p.Thr311= Multiple submitters inherited retinal dystrophy
- p.Val304= Multiple submitters
- c.1073+18A>G Single submitter
- c.1073+18A>T Single submitter
- c.1073+7C>A Single submitter
- c.1073+8T>A Single submitter
- c.1073+8T>C Single submitter
- c.1074-14T>C Single submitter
- c.1074-15T>G Single submitter
- c.1074-16T>G Single submitter
- c.1074-20del Single submitter
- c.1074-7A>G Single submitter
- c.1074-8C>T Single submitter
- c.1074-9A>G Single submitter
- c.1133+10A>T Single submitter
- c.1133+14C>T Single submitter
- c.1133+6dup Single submitter
- c.1133+7A>G Single submitter
- c.1133+7A>T Single submitter
- c.1133+9_1133+21del Single submitter
- c.1134-10T>C Single submitter
- c.1134-11C>G Single submitter
- c.1134-16_1134-12del Single submitter
- c.1134-42C>T Single submitter
- c.1134-7C>A Single submitter
- c.1134-7C>G Single submitter
- c.1134-7C>T Single submitter
- c.1159+11_1159+12del Single submitter
- c.1159+14T>G Single submitter
- c.1159+15A>G Single submitter
- c.1159+16T>C Single submitter
- c.1159+7C>A Single submitter
- c.1159+7C>T Single submitter
- c.1159+9A>C Single submitter
- c.1160-12C>T Single submitter
- c.1160-15T>C Single submitter
- c.1160-18C>T Single submitter
- c.1160-19T>C Single submitter
- c.1160-20A>G Single submitter
- c.1160-20del Single submitter
- c.1160-7C>T Single submitter
- c.1268+10C>T Single submitter
- c.1268+11A>G Single submitter
- c.1268+11A>T Single submitter
- c.1268+12T>A Single submitter
- c.1268+16T>C Single submitter
- c.1268+17A>C Single submitter
- c.1268+18T>C Single submitter
- c.1268+19T>G Single submitter
- c.1268+7A>G Single submitter
- c.1268+9G>C Single submitter
- c.1269-14A>G Single submitter
- c.1269-14A>T Single submitter
- c.1269-19T>C Single submitter
- c.1269-19T>G Single submitter
- c.1269-4T>G Single submitter
- c.1365+11T>A Single submitter
- c.1365+13C>G Single submitter
- c.1366-11T>C Single submitter
- c.1366-12del Single submitter
- c.1366-13T>G Single submitter
- c.1366-14G>T Single submitter
- c.1366-15T>C Single submitter
- c.1366-16T>C Single submitter
- c.1366-17_1366-16insAC Single submitter
- c.1366-18_1366-15dup Single submitter
- c.1366-18del Single submitter
- c.1366-20T>C Single submitter
- c.1366-9T>C Single submitter
- c.1538+11T>C Single submitter
- c.1538+13_1538+16del Single submitter
- c.1538+17C>T Single submitter
- c.1538+19C>T Single submitter
- c.1538+3_1538+6dup Single submitter
- c.1538+7C>G Single submitter
- c.1538+8_1538+17del Single submitter
- c.1538+8T>C Single submitter
- c.1538+9A>G Single submitter
- c.1538+9ATTT[3] Single submitter
- c.1539-10T>G Single submitter
- c.1539-11T>A Single submitter
- c.1539-11T>G Single submitter
- c.1539-12T>A Single submitter
- c.1539-13_1539-10dup Single submitter
- c.1539-13A>C Single submitter
- c.1539-14T>A Single submitter
- c.1539-14T>C Single submitter
- c.1539-16T>A Single submitter
- c.1539-21AAT[3] Single submitter
- c.1539-26_1539-20del Single submitter
- c.1539-59_1539-16del Single submitter
- c.1539-5T>C Single submitter
- c.1539-6T>G Single submitter
- c.1539-9_1539-5dup Single submitter
- c.1539-9T>A Single submitter
- c.238+10C>A Single submitter retinitis pigmentosa 26
- c.238+10C>T Single submitter
- c.238+11G>A Single submitter
- c.238+12G>A Single submitter
- c.238+13C>T Single submitter
- c.238+14C>A Single submitter
- c.238+14C>T Single submitter
- c.238+15C>G Single submitter
- c.238+15C>T Single submitter
- c.238+16C>T Single submitter
- c.238+19G>A Single submitter
- c.238+20C>A Single submitter
- c.238+8C>A Single submitter
- c.238+8C>T Single submitter
- c.238+9C>G Single submitter
- c.239-10T>G Single submitter
- c.239-12T>C Single submitter
- c.239-13dup Single submitter
- c.239-16T>A Single submitter
- c.239-18A>T Single submitter
- c.239-4del Single submitter
- c.239-7T>C Single submitter
- c.239-8T>C Single submitter
- c.239-9T>G Single submitter
- c.481+11_481+13del Single submitter
- c.481+13C>T Single submitter
- c.481+14A>G Single submitter
- c.481+18G>A Single submitter
- c.481+9T>G Single submitter
- c.482-18T>C Single submitter
- c.482-4T>C Single submitter
- c.613+10T>A Single submitter
- c.613+19A>G Single submitter
- c.613+20T>C Single submitter
- c.613+8A>C Single submitter
- c.613+8A>G Single submitter
- c.614-11T>G Single submitter
- c.614-13G>A Single submitter
- c.614-17G>C Single submitter
- c.614-19G>A Single submitter
- c.614-6dup Single submitter
- c.614-6T>A Single submitter
- c.614-9T>C Single submitter
- c.677+10A>C Single submitter
- c.677+11T>G Single submitter
- c.677+14T>C Single submitter
- c.677+16_677+17insTATATG Single submitter
- c.677+18T>C Single submitter
- c.677+19C>T Single submitter
- c.677+535A>G Single submitter
- c.677+555C>T Single submitter Inborn genetic diseases
- c.677+557G>A Single submitter
- c.677+560A>G Single submitter
- c.677+563A>G Single submitter
- c.677+566G>A Single submitter retinitis pigmentosa 26
- c.677+584T>C Single submitter
- c.677+587A>G Single submitter
- c.677+593A>G Single submitter
- c.677+594T>C Single submitter
- c.677+599C>T Single submitter
- c.677+605C>G Single submitter
- c.677+614G>A Single submitter
- c.677+614G>C Single submitter
- c.677+614G>T Single submitter
- c.677+617A>G Single submitter
- c.677+630_677+638dup Single submitter
- c.677+635A>G Single submitter
- c.677+636T>C Single submitter
- c.677+638A>C Single submitter
- c.677+640T>C Single submitter
- c.677+643C>A Single submitter
- c.677+8A>G Single submitter
- c.677+8A>T Single submitter
- c.678-10A>T Single submitter
- c.678-12G>A Single submitter
- c.678-12G>T Single submitter
- c.678-13del Single submitter
- c.678-15T>C Single submitter
- c.678-16A>C Single submitter
- c.678-18T>C Single submitter
- c.820+12G>A Single submitter
- c.820+15A>G Single submitter
- c.820+16C>T Single submitter
- c.820+18G>A Single submitter
- c.820+7G>A Single submitter
- c.821-10G>T Single submitter
- c.821-8T>G Single submitter
- c.895+10C>A Single submitter
- c.895+11T>G Single submitter
- c.895+14C>A Single submitter
- c.895+19C>A Single submitter
- c.895+19C>T Single submitter
- c.895+7A>G Single submitter
- c.896-12_896-8del Single submitter
- c.896-13T>C Single submitter
- c.896-16T>C Single submitter
- c.896-19_896-13del Single submitter
- c.896-19A>G Single submitter
- c.896-7A>G Single submitter
- c.-14C>G Single submitter
- c.*472A>T Single submitter retinitis pigmentosa
- p.Ala12= Single submitter
- p.Ala197= Single submitter
- p.Ala21= Single submitter
- p.Ala212= Single submitter
- p.Ala25= Single submitter retinitis pigmentosa 26
- p.Ala251= Single submitter
- p.Ala264= Single submitter retinitis pigmentosa 26
- p.Ala27= Single submitter
- p.Ala280= Single submitter
- p.Ala322= Single submitter
- p.Ala349= Single submitter
- p.Ala355= Single submitter
- p.Ala41= Single submitter
- p.Ala419= Single submitter
- p.Ala43= Single submitter
- p.Ala430= Single submitter
- p.Ala434= Single submitter retinitis pigmentosa 26
- p.Ala450= Single submitter
- p.Arg246= Single submitter
- p.Arg338= Single submitter
- p.Arg345= Single submitter
- p.Arg4= Single submitter
- p.Arg435= Single submitter
- p.Arg45= Single submitter
- p.Arg474= Single submitter
- p.Arg49= Single submitter
- p.Arg56= Single submitter
- p.Arg6= Single submitter
- p.Arg69= Single submitter
- p.Arg7= Single submitter
- p.Arg71= Single submitter
- p.Arg9= Single submitter
- p.Asn131= Single submitter
- p.Asn164= Single submitter
- p.Asn277= Single submitter
- p.Asn370= Single submitter
- p.Asn389= Single submitter
- p.Asn401= Single submitter
- p.Asn425= Single submitter
- p.Asn436= Single submitter
- p.Asn481= Single submitter
- p.Asn498= Single submitter
- p.Asp146= Single submitter
- p.Asp149= Single submitter
- p.Asp225= Single submitter
- p.Asp233= Single submitter retinitis pigmentosa 26
- p.Asp256= Single submitter
- p.Asp305= Single submitter
- p.Asp347= Single submitter
- p.Asp373= Single submitter
- p.Asp390= Single submitter
- p.Asp81= Single submitter
- p.Asp85= Single submitter
- p.Cys229= Single submitter
- p.Cys388= Single submitter
- p.Cys59= Single submitter
- p.Cys88= Single submitter retinitis pigmentosa 26
- p.Gln154= Single submitter
- p.Gln184= Single submitter
- p.Gln302= Single submitter
- p.Gln376= Single submitter
- p.Gln391= Single submitter
- p.Gln393= Single submitter
- p.Glu14= Single submitter
- p.Glu18= Single submitter
- p.Glu207= Single submitter
- p.Glu209= Single submitter
- p.Glu24= Single submitter
- p.Glu44= Single submitter
- p.Glu485= Single submitter
- p.Glu505= Single submitter
Uncertain significance 350
Showing the top 300 by review status; the full set is in the sitemap.
- c.613+4_613+5del Multiple submitters retinitis pigmentosa 26
- c.677+613C>T Multiple submitters retinitis pigmentosa 26 ⚠
- c.677+621C>A Multiple submitters inherited retinal dystrophy ⚠
- c.-63C>T Multiple submitters retinitis pigmentosa
- c.*1324G>A Multiple submitters retinitis pigmentosa
- c.*295G>A Multiple submitters retinitis pigmentosa
- p.Ala12Thr Multiple submitters retinitis pigmentosa 26 ⚠
- p.Ala212Pro Multiple submitters Inborn genetic diseases
- p.Ala212Thr Multiple submitters ⚠
- p.Ala312Thr Multiple submitters ⚠
- p.Ala31Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala355Glu Multiple submitters retinitis pigmentosa 26 ⚠
- p.Ala355Thr Multiple submitters ⚠
- p.Ala419Thr Multiple submitters retinitis pigmentosa 26 ⚠
- p.Ala434Ser Multiple submitters ⚠
- p.Arg105Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg257Gln Multiple submitters inherited retinal dystrophy ⚠
- p.Arg338Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg345Gln Multiple submitters retinitis pigmentosa 26 ⚠
- p.Arg345Trp Multiple submitters Inborn genetic diseases
- p.Arg439Gln Multiple submitters Inborn genetic diseases ⚠
- p.Asn277Ser Multiple submitters retinitis pigmentosa 26 ⚠
- p.Gln38Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gln398Glu Multiple submitters retinitis pigmentosa 26 ⚠
- p.Glu218Lys Multiple submitters inherited retinal dystrophy ⚠
- p.Glu441Ala Multiple submitters Inborn genetic diseases ⚠
- p.Glu44Ala Multiple submitters ⚠
- p.Glu486dup Multiple submitters retinitis pigmentosa 26
- p.Glu492Gly Multiple submitters Inborn genetic diseases ⚠
- p.Glu527Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gly15_Glu18del Multiple submitters retinitis pigmentosa 26
- p.Gly198Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gly327Asp Multiple submitters ⚠
- p.Gly328Arg Multiple submitters ⚠
- p.Gly50Asp Multiple submitters Inborn genetic diseases ⚠
- p.His284Arg Multiple submitters ⚠
- p.His515Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Ile150Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ile205Leu Multiple submitters ⚠
- p.Ile407Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ile519Thr Multiple submitters retinitis pigmentosa 26 ⚠
- p.Ile73Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile98Met Multiple submitters Inborn genetic diseases ⚠
- p.Leu122Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu283Pro Multiple submitters retinitis pigmentosa ⚠
- p.Leu514Ser Multiple submitters Inborn genetic diseases ⚠
- p.Met206Thr Multiple submitters inherited retinal dystrophy ⚠
- p.Met429Ile Multiple submitters ⚠
- p.Pro267Thr Multiple submitters Inborn genetic diseases ⚠
- p.Pro30Ser Multiple submitters ⚠
- p.Pro473Leu Multiple submitters ⚠
- p.Pro516= Multiple submitters retinitis pigmentosa
- p.Pro531Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro78Arg Multiple submitters ⚠
- p.Ser136Tyr Multiple submitters ⚠
- p.Ser237Arg Multiple submitters ⚠
- p.Ser282Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Ser365Pro Multiple submitters Inborn genetic diseases ⚠
- p.Ser383Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ser64Asn Multiple submitters Inborn genetic diseases ⚠
- p.Ter533Leu Multiple submitters
- p.Thr116Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr121Ile Multiple submitters retinitis pigmentosa 26
- p.Thr201Ser Multiple submitters Inborn genetic diseases ⚠
- p.Thr255Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr291Ile Multiple submitters retinitis pigmentosa 26 ⚠
- p.Thr34Arg Multiple submitters Inborn genetic diseases ⚠
- p.Trp392Arg Multiple submitters Inborn genetic diseases ⚠
- p.Tyr187Cys Multiple submitters retinitis pigmentosa 26 ⚠
- p.Tyr187Phe Multiple submitters ⚠
- p.Val185Leu Multiple submitters Inborn genetic diseases ⚠
- p.Val262Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val306Leu Multiple submitters ⚠
- p.Val402Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val61Met Multiple submitters ⚠
- c.1073+15_1073+16insAAGTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCC Single submitter
- c.1073+4_1073+7del Single submitter
- c.1159+5G>A Single submitter
- c.1160-13T>C Single submitter
- c.1160-7C>G Single submitter
- c.1268+5G>C Single submitter
- c.1365+3A>G Single submitter
- c.1365+3A>T Single submitter
- c.1365+5A>C Single submitter
- c.1538+1G>A Single submitter
- c.1538+4A>C Single submitter
- c.1539-2_1540dup Single submitter retinitis pigmentosa 26
- c.238+3G>A Single submitter
- c.238+5G>A Single submitter
- c.238+6T>A Single submitter
- c.238+6T>C Single submitter retinitis pigmentosa 26
- c.614-13dup Single submitter
- c.677+545del Single submitter
- c.677+552C>T Single submitter Inborn genetic diseases ⚠
- c.677+553A>G Single submitter ⚠
- c.677+570G>A Single submitter ⚠
- c.677+573A>G Single submitter ⚠
- c.677+576C>T Single submitter ⚠
- c.677+577A>G Single submitter Inborn genetic diseases ⚠
- c.677+583G>A Single submitter ⚠
- c.677+590G>C Single submitter retinitis pigmentosa 26 ⚠
- c.677+5G>T Single submitter
- c.677+610A>G Single submitter retinitis pigmentosa 26 ⚠
- c.677+617_677+641delinsG Single submitter
- c.820+5G>C Single submitter
- c.896-9A>G Single submitter
- c.-23C>A Single submitter retinitis pigmentosa
- c.-71G>T Single submitter retinitis pigmentosa
- c.*1023G>A Single submitter retinitis pigmentosa
- c.*1044C>T Single submitter retinitis pigmentosa
- c.*1045G>A Single submitter retinitis pigmentosa
- c.*1058T>G Single submitter retinitis pigmentosa
- c.*114A>G Single submitter retinitis pigmentosa
- c.*1207C>G Single submitter retinitis pigmentosa
- c.*1212A>G Single submitter retinitis pigmentosa
- c.*1216G>A Single submitter retinitis pigmentosa
- c.*1371C>T Single submitter retinitis pigmentosa
- c.*160T>G Single submitter retinitis pigmentosa
- c.*237G>A Single submitter retinitis pigmentosa
- c.*25G>T Single submitter retinitis pigmentosa
- c.*306C>T Single submitter retinitis pigmentosa
- c.*330C>T Single submitter retinitis pigmentosa
- c.*452G>A Single submitter retinitis pigmentosa
- c.*567T>C Single submitter retinitis pigmentosa
- c.*573A>G Single submitter retinitis pigmentosa
- c.*743G>A Single submitter retinitis pigmentosa
- c.*77G>T Single submitter retinitis pigmentosa
- c.*780T>C Single submitter retinitis pigmentosa
- c.*869C>T Single submitter retinitis pigmentosa
- c.*92G>C Single submitter retinitis pigmentosa
- c.*979C>T Single submitter retinitis pigmentosa
- p.Ala12Asp Single submitter ⚠
- p.Ala12Ser Single submitter ⚠
- p.Ala21Glu Single submitter ⚠
- p.Ala26Ser Single submitter ⚠
- p.Ala273= Single submitter
- p.Ala280Ser Single submitter ⚠
- p.Ala292Ser Single submitter ⚠
- p.Ala334Val Single submitter
- p.Ala406Val Single submitter ⚠
- p.Ala414Gly Single submitter retinitis pigmentosa 26 ⚠
- p.Ala414Ser Single submitter ⚠
- p.Ala450Thr Single submitter ⚠
- p.Ala450Val Single submitter ⚠
- p.Arg246Ser Single submitter ⚠
- p.Arg257Gly Single submitter ⚠
- p.Arg317Ser Single submitter ⚠
- p.Arg346Lys Single submitter ⚠
- p.Arg378= Single submitter
- p.Arg378Lys Single submitter ⚠
- p.Arg423Lys Single submitter retinitis pigmentosa 26 ⚠
- p.Arg513Lys Single submitter ⚠
- p.Arg513Thr Single submitter ⚠
- p.Arg6Cys Single submitter retinitis pigmentosa 26 ⚠
- p.Arg71Gln Single submitter ⚠
- p.Arg77Cys Single submitter Inborn genetic diseases ⚠
- p.Asn277Lys Single submitter ⚠
- p.Asn370Asp Single submitter ⚠
- p.Asn370Ser Single submitter ⚠
- p.Asn389Ser Single submitter retinitis pigmentosa 26 ⚠
- p.Asn454Thr Single submitter ⚠
- p.Asn457Ser Single submitter inherited retinal dystrophy ⚠
- p.Asn475Ser Single submitter Inborn genetic diseases ⚠
- p.Asn476Asp Single submitter inherited retinal dystrophy ⚠
- p.Asn481Ser Single submitter inherited retinal dystrophy ⚠
- p.Asp256Tyr Single submitter ⚠
- p.Asp374Asn Single submitter Inborn genetic diseases ⚠
- p.Asp387His Single submitter ⚠
- p.Asp500Ala Single submitter ⚠
- p.Asp57Phe Single submitter
- p.Asp60Gly Single submitter Inborn genetic diseases ⚠
- p.Asp81Val Single submitter ⚠
- p.Cys107del Single submitter
- p.Cys125Tyr Single submitter
- p.Cys219Tyr Single submitter ⚠
- p.Cys362Tyr Single submitter ⚠
- p.Cys409Phe Single submitter
- p.Cys411Trp Single submitter Inborn genetic diseases ⚠
- p.Cys88Gly Single submitter ⚠
- p.Gln130= Single submitter inherited retinal dystrophy
- p.Gln130Arg Single submitter ⚠
- p.Gln302His Single submitter Inborn genetic diseases ⚠
- p.Gln391Glu Single submitter inherited retinal dystrophy ⚠
- p.Gln455Lys Single submitter ⚠
- p.Glu129Gly Single submitter ⚠
- p.Glu14Gly Single submitter retinitis pigmentosa 26 ⚠
- p.Glu181Asp Single submitter Inborn genetic diseases ⚠
- p.Glu181Val Single submitter ⚠
- p.Glu19Asp Single submitter retinitis pigmentosa 26 ⚠
- p.Glu207Lys Single submitter ⚠
- p.Glu207Val Single submitter retinitis pigmentosa 26 ⚠
- p.Glu238Lys Single submitter
- p.Glu363Lys Single submitter ⚠
- p.Glu40Lys Single submitter ⚠
- p.Glu467Lys Single submitter ⚠
- p.Glu485Gly Single submitter retinitis pigmentosa 26 ⚠
- p.Glu486Lys Single submitter ⚠
- p.Glu528Ter Single submitter
- p.Glu76Gln Single submitter ⚠
- p.Glu91Gln Single submitter Inborn genetic diseases ⚠
- p.Glu91Gly Single submitter inherited retinal dystrophy ⚠
- p.Gly15Ser Single submitter Inborn genetic diseases ⚠
- p.Gly223Arg Single submitter Inborn genetic diseases ⚠
- p.Gly231Arg Single submitter ⚠
- p.Gly234= Single submitter
- p.Gly252Ala Single submitter ⚠
- p.Gly427Glu Single submitter ⚠
- p.Gly523fs Single submitter
- p.Gly55Arg Single submitter retinitis pigmentosa 26 ⚠
- p.Gly55Trp Single submitter Inborn genetic diseases ⚠
- p.Gly80= Single submitter
- p.Gly80Ala Single submitter ⚠
- p.Gly80Ser Single submitter retinitis pigmentosa 26 ⚠
- p.His211Arg Single submitter Inborn genetic diseases
- p.His281Tyr Single submitter ⚠
- p.His472Arg Single submitter ⚠
- p.His511Leu Single submitter ⚠
- p.Ile141Asn Single submitter ⚠
- p.Ile141Leu Single submitter ⚠
- p.Ile141Thr Single submitter Inborn genetic diseases ⚠
- p.Ile150Met Single submitter ⚠
- p.Ile205Thr Single submitter ⚠
- p.Ile290Thr Single submitter ⚠
- p.Ile296Val Single submitter ⚠
- p.Ile433Asn Single submitter retinitis pigmentosa 26 ⚠
- p.Ile443Met Single submitter ⚠
- p.Ile46Phe Single submitter ⚠
- p.Ile519fs Single submitter
- p.Ile530Thr Single submitter ⚠
- p.Ile54Met Single submitter ⚠
- p.Ile54Val Single submitter ⚠
- p.Ile93Met Single submitter ⚠
- p.Leu138Arg Single submitter ⚠
- p.Leu173Phe Single submitter ⚠
- p.Leu193Pro Single submitter Inborn genetic diseases ⚠
- p.Leu196Val Single submitter Inborn genetic diseases ⚠
- p.Leu216Pro Single submitter ⚠
- p.Leu221Pro Single submitter retinitis pigmentosa 26 ⚠
- p.Leu245Pro Single submitter retinitis pigmentosa 26 ⚠
- p.Leu270Val Single submitter retinitis pigmentosa 26 ⚠
- p.Leu315His Single submitter ⚠
- p.Leu424Phe Single submitter ⚠
- p.Leu431Val Single submitter retinitis pigmentosa 26 ⚠
- p.Leu446Gln Single submitter ⚠
- p.Leu518Phe Single submitter ⚠
- p.Leu521Pro Single submitter ⚠
- p.Leu87Ile Single submitter ⚠
- p.Lys128Met Single submitter Inborn genetic diseases ⚠
- p.Lys134= Single submitter inherited retinal dystrophy
- p.Lys134Asn Single submitter ⚠
- p.Lys156Arg Single submitter Inborn genetic diseases ⚠
- p.Lys200Glu Single submitter ⚠
- p.Lys314Asn Single submitter ⚠
- p.Lys532_Ter533insGluGluMetIleProLys Single submitter inherited retinal dystrophy
- p.Lys532delinsTrpLysLysTer Single submitter
- p.Lys532fs Single submitter
- p.Lys83Glu Single submitter ⚠
- p.Met323Lys Single submitter Inborn genetic diseases ⚠
- p.Met340Lys Single submitter
- p.Met405Ile Single submitter ⚠
- p.Met405Thr Single submitter Inborn genetic diseases ⚠
- p.Met529fs Single submitter
- p.Phe152Leu Single submitter retinitis pigmentosa ⚠
- p.Phe155Leu Single submitter ⚠
- p.Phe458Tyr Single submitter Inborn genetic diseases ⚠
- p.Pro175Ala Single submitter Inborn genetic diseases ⚠
- p.Pro175Thr Single submitter ⚠
- p.Pro192Leu Single submitter ⚠
- p.Pro261Arg Single submitter ⚠
- p.Pro2Thr Single submitter ⚠
- p.Pro30Ala Single submitter Inborn genetic diseases ⚠
- p.Pro368Leu Single submitter ⚠
- p.Pro440Arg Single submitter ⚠
- p.Pro482Leu Single submitter retinitis pigmentosa 26 ⚠
- p.Pro75Leu Single submitter ⚠
- p.Pro78Leu Single submitter ⚠
- p.Pro78Ser Single submitter ⚠
- p.Ser136_Asp139del Single submitter
- p.Ser136Thr Single submitter ⚠
- p.Ser177Gly Single submitter Inborn genetic diseases ⚠
- p.Ser214fs Single submitter inherited retinal dystrophy
- p.Ser214Leu Single submitter ⚠
- p.Ser275Phe Single submitter retinitis pigmentosa 26
- p.Ser275Tyr Single submitter retinitis pigmentosa 26
- p.Ser321Pro Single submitter Inborn genetic diseases ⚠
- p.Ser491Leu Single submitter ⚠
- p.Ser525Cys Single submitter inherited retinal dystrophy ⚠
- p.Thr116Ala Single submitter ⚠
- p.Thr183Ile Single submitter retinitis pigmentosa 26 ⚠
- p.Thr260Ile Single submitter ⚠
- p.Thr39Met Single submitter ⚠
- p.Thr422Ile Single submitter Inborn genetic diseases
- p.Thr463Ile Single submitter inherited retinal dystrophy ⚠
- p.Thr489Asn Single submitter inherited retinal dystrophy ⚠
- p.Trp151Cys Single submitter Inborn genetic diseases ⚠
- p.Trp339Arg Single submitter ⚠
- p.Trp392Cys Single submitter ⚠
- p.Trp70_Arg71delinsCysTrp Single submitter
- p.Tyr187Asn Single submitter Inborn genetic diseases ⚠
- p.Tyr208Cys Single submitter ⚠