RNF168 — 382 ClinVar variants
All ClinVar germline RNF168 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 182 flagged for review →
22 Pathogenic · 4 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 11 Conflicting · 13 Benign · 5 Benign/Likely benign · 137 Likely benign · 182 Uncertain significance
Full RNF168 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 182
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 11
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
RNF168 p.Ala356Thr
Conflicting
Single submitter
Inborn genetic diseases
-
RNF168 p.Arg220Thr
Conflicting
Single submitter
Inborn genetic diseases
-
RNF168 p.Asn367Asp
Conflicting
Single submitter
Inborn genetic diseases
-
RNF168 p.Cys569Tyr
Conflicting
Single submitter
Inborn genetic diseases
-
RNF168 p.Ile256Thr
Conflicting
Single submitter
Inborn genetic diseases
-
RNF168 p.Ile8Val
Conflicting
Single submitter
Inborn genetic diseases
-
RNF168 p.Met346Thr
Conflicting
Single submitter
Inborn genetic diseases
-
RNF168 p.Ser195Leu
Conflicting
Single submitter
Inborn genetic diseases
-
RNF168 p.Thr364Ile
Conflicting
Single submitter
Inborn genetic diseases
-
RNF168 p.Tyr104Cys
Conflicting
Single submitter
Inborn genetic diseases
-
RNF168 p.Val74Leu
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 110
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
RNF168 p.Ala7Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RNF168 p.Arg466Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RNF168 p.Arg63Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RNF168 p.Asn368His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RNF168 p.Asn488Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RNF168 p.Asn493Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RNF168 p.Cys326Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RNF168 p.Cys50Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RNF168 p.Glu307Lys
Uncertain significance
Multiple submitters
RIDDLE syndrome
-
RNF168 p.Glu473Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RNF168 p.Ile186Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RNF168 p.Ile256Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RNF168 p.Ile79Met
Uncertain significance
Multiple submitters
RIDDLE syndrome
- RNF168 p.Ile79Val Uncertain significance Multiple submitters
-
RNF168 p.Leu199Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RNF168 p.Pro275Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RNF168 p.Ser174Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RNF168 p.Ser340Leu
Uncertain significance
Multiple submitters
RIDDLE syndrome
-
RNF168 p.Val244Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- RNF168 p.Val314Phe Uncertain significance Multiple submitters
-
RNF168 p.Val58Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- RNF168 p.Ala450Pro Uncertain significance Single submitter
- RNF168 p.Ala7Thr Uncertain significance Single submitter
-
RNF168 p.Ala92Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
RNF168 p.Arg131Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- RNF168 p.Arg165Gln Uncertain significance Single submitter
- RNF168 p.Arg477Cys Uncertain significance Single submitter
- RNF168 p.Arg477His Uncertain significance Single submitter
- RNF168 p.Arg67Gly Uncertain significance Single submitter
-
RNF168 p.Arg68Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- RNF168 p.Asn188Ser Uncertain significance Single submitter
- RNF168 p.Asn313Lys Uncertain significance Single submitter
-
RNF168 p.Asn390Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
RNF168 p.Asp250Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
RNF168 p.Asp268Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- RNF168 p.Asp516Glu Uncertain significance Single submitter
-
RNF168 p.Cys348Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- RNF168 p.Cys36Ser Uncertain significance Single submitter
-
RNF168 p.Cys50Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- RNF168 p.Cys544Tyr Uncertain significance Single submitter
-
RNF168 p.Cys88Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
RNF168 p.Gln15Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- RNF168 p.Gln219Glu Uncertain significance Single submitter
- RNF168 p.Gln234Glu Uncertain significance Single submitter
-
RNF168 p.Gln245Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- RNF168 p.Gln418Lys Uncertain significance Single submitter
-
RNF168 p.Gln490His
Uncertain significance
Single submitter
Inborn genetic diseases
-
RNF168 p.Gln526Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- RNF168 p.Gln526Lys Uncertain significance Single submitter
-
RNF168 p.Glu25Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
RNF168 p.Glu25Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
RNF168 p.Glu324Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- RNF168 p.Glu371Ala Uncertain significance Single submitter
- RNF168 p.Glu392Lys Uncertain significance Single submitter
- RNF168 p.Glu460Asp Uncertain significance Single submitter
-
RNF168 p.Gly192Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
RNF168 p.Gly349Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- RNF168 p.Gly349Ser Uncertain significance Single submitter
- RNF168 p.Gly360Glu Uncertain significance Single submitter
-
RNF168 p.Gly513Val
Uncertain significance
Single submitter
Inborn genetic diseases
- RNF168 p.His33Gln Uncertain significance Single submitter
- RNF168 p.His507Arg Uncertain significance Single submitter
- RNF168 p.Ile124Val Uncertain significance Single submitter
-
RNF168 p.Ile184Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
RNF168 p.Ile22Val
Uncertain significance
Single submitter
Inborn genetic diseases
- RNF168 p.Ile271Thr Uncertain significance Single submitter
- RNF168 p.Ile294Val Uncertain significance Single submitter
- RNF168 p.Ile430Thr Uncertain significance Single submitter
-
RNF168 p.Leu23Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- RNF168 p.Leu277Val Uncertain significance Single submitter
- RNF168 p.Leu283Ile Uncertain significance Single submitter
- RNF168 p.Leu379Arg Uncertain significance Single submitter
- RNF168 p.Leu487Pro Uncertain significance Single submitter
- RNF168 p.Leu553Ile Uncertain significance Single submitter
- RNF168 p.Lys389Arg Uncertain significance Single submitter
- RNF168 p.Lys409Arg Uncertain significance Single submitter
- RNF168 p.Lys485Arg Uncertain significance Single submitter
- RNF168 p.Met298Val Uncertain significance Single submitter
-
RNF168 p.Met536Val
Uncertain significance
Single submitter
RNF168-related disorder
-
RNF168 p.Pro206Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- RNF168 p.Pro30Leu Uncertain significance Single submitter
- RNF168 p.Pro338Ala Uncertain significance Single submitter
- RNF168 p.Pro38Ala Uncertain significance Single submitter
-
RNF168 p.Pro401Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- RNF168 p.Pro464Leu Uncertain significance Single submitter
- RNF168 p.Pro471Ser Uncertain significance Single submitter
- RNF168 p.Pro494His Uncertain significance Single submitter
-
RNF168 p.Ser134Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- RNF168 p.Ser193Asn Uncertain significance Single submitter
- RNF168 p.Ser215Asn Uncertain significance Single submitter
- RNF168 p.Ser237Ala Uncertain significance Single submitter
-
RNF168 p.Ser251Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- RNF168 p.Ser282Pro Uncertain significance Single submitter
- RNF168 p.Ser353Thr Uncertain significance Single submitter
- RNF168 p.Ser42Leu Uncertain significance Single submitter
-
RNF168 p.Ser480Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- RNF168 p.Ser556Gly Uncertain significance Single submitter
- RNF168 p.Ser558Leu Uncertain significance Single submitter
- RNF168 p.Thr316Ile Uncertain significance Single submitter
- RNF168 p.Thr335Ser Uncertain significance Single submitter
-
RNF168 p.Thr351Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- RNF168 p.Thr358Pro Uncertain significance Single submitter
- RNF168 p.Thr362Ile Uncertain significance Single submitter
- RNF168 p.Thr372Ile Uncertain significance Single submitter
- RNF168 p.Thr43Ala Uncertain significance Single submitter
-
RNF168 p.Thr479Ala
Uncertain significance
Single submitter
RIDDLE syndrome
- RNF168 p.Tyr104Ser Uncertain significance Single submitter
- RNF168 p.Val252Ile Uncertain significance Single submitter
-
RNF168 p.Val314Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- RNF168 p.Val337Ile Uncertain significance Single submitter
Predictors split 61
The independent predictors disagree with each other — read with care.
-
RNF168 p.Ala141Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RNF168 p.Arg132Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RNF168 p.Arg148Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RNF168 p.Arg407Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RNF168 p.Gln559His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RNF168 p.Glu157Gly
Uncertain significance
Multiple submitters
RIDDLE syndrome
-
RNF168 p.Glu170Lys
Benign/Likely benign
Multiple submitters
RIDDLE syndrome
-
RNF168 p.Glu177Lys
Uncertain significance
Multiple submitters
RIDDLE syndrome
-
RNF168 p.Ile225Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RNF168 p.Lys37Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RNF168 p.Lys387Arg
Benign
Multiple submitters
RIDDLE syndrome
-
RNF168 p.Lys82Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RNF168 p.Ser111Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RNF168 p.Tyr228Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RNF168 p.Tyr228Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RNF168 p.Val410Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RNF168 p.Ala128Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- RNF168 p.Ala161Val Likely benign Single submitter
- RNF168 p.Ala167Thr Benign Single submitter
-
RNF168 p.Ala179Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
RNF168 p.Ala450Val
Uncertain significance
Single submitter
Inborn genetic diseases
- RNF168 p.Ala92Pro Uncertain significance Single submitter
- RNF168 p.Arg108His Uncertain significance Single submitter
-
RNF168 p.Arg117Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
RNF168 p.Arg165Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
RNF168 p.Arg166Gly
Uncertain significance
Single submitter
RIDDLE syndrome
- RNF168 p.Arg466Trp Uncertain significance Single submitter
- RNF168 p.Arg477Gly Uncertain significance Single submitter
- RNF168 p.Arg56Leu Uncertain significance Single submitter
-
RNF168 p.Arg86Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- RNF168 p.Asp175Gly Uncertain significance Single submitter
-
RNF168 p.Gln442Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- RNF168 p.Gln567His Uncertain significance Single submitter
- RNF168 p.Glu138Val Uncertain significance Single submitter
-
RNF168 p.Glu153Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
RNF168 p.Glu154Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- RNF168 p.Glu75Lys Uncertain significance Single submitter
- RNF168 p.Glu87Gly Uncertain significance Single submitter
- RNF168 p.Gly114Ala Uncertain significance Single submitter
- RNF168 p.Gly94Ser Uncertain significance Single submitter
-
RNF168 p.Ile186Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
RNF168 p.Lys181Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
RNF168 p.Lys387Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- RNF168 p.Lys545Glu Uncertain significance Single submitter
- RNF168 p.Lys571Glu Uncertain significance Single submitter
- RNF168 p.Pro231Leu Uncertain significance Single submitter
-
RNF168 p.Pro85Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
RNF168 p.Ser183Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
RNF168 p.Ser201Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
RNF168 p.Ser282Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- RNF168 p.Ser296Phe Uncertain significance Single submitter
- RNF168 p.Ser377Leu Uncertain significance Single submitter
- RNF168 p.Ser70Cys Uncertain significance Single submitter
- RNF168 p.Ser70Phe Uncertain significance Single submitter
- RNF168 p.Ser70Tyr Uncertain significance Single submitter
-
RNF168 p.Ser93Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
RNF168 p.Thr230Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
RNF168 p.Thr66Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- RNF168 p.Tyr145Cys Uncertain significance Single submitter
- RNF168 p.Val27Ile Uncertain significance Single submitter
-
RNF168 p.Val562Gly
Uncertain significance
Single submitter
Inborn genetic diseases
All RNF168 variants
Pathogenic 22
- p.Cys50fs Multiple submitters
- p.Ala161fs Single submitter
- p.Ala405fs Single submitter
- p.Arg117fs Single submitter
- p.Arg332Ter Single submitter
- p.Asn187fs Single submitter
- p.Asn221fs Single submitter
- p.Asn32fs Single submitter
- p.Asp431fs Single submitter
- p.Cys326fs Single submitter
- p.Cys378fs Single submitter
- p.Gln219fs Single submitter
- p.Gln245Ter Single submitter
- p.Glu170fs Single submitter
- p.His65fs Single submitter
- p.Leu71fs Single submitter
- p.Lys126fs Single submitter
- p.Lys213_Lys214insTer Single submitter
- p.Met298fs Single submitter
- p.Ser215fs Single submitter
- p.Val327fs Single submitter
- p.Ala133fs No assertion criteria RIDDLE syndrome
Pathogenic/Likely pathogenic 4
- p.Arg131Ter Multiple submitters RIDDLE syndrome
- p.Arg165Ter Multiple submitters RIDDLE syndrome
- p.Arg220fs Multiple submitters RIDDLE syndrome
- p.Glu138Ter Multiple submitters RIDDLE syndrome
Likely pathogenic 8
- c.559-1_560del Multiple submitters RIDDLE syndrome
- c.558+1G>A Single submitter
- c.558+1G>T Single submitter
- p.Asn488fs Single submitter RIDDLE syndrome
- p.Gln171Ter Single submitter RIDDLE syndrome
- p.Gln442fs Single submitter RIDDLE syndrome
- p.Leu476Ter Single submitter RIDDLE syndrome
- p.Tyr64Ter Single submitter RIDDLE syndrome
Conflicting classifications of pathogenicity 11
- p.Ala356Thr Single submitter Inborn genetic diseases ⚠
- p.Arg220Thr Single submitter Inborn genetic diseases ⚠
- p.Asn367Asp Single submitter Inborn genetic diseases ⚠
- p.Cys569Tyr Single submitter Inborn genetic diseases ⚠
- p.Ile256Thr Single submitter Inborn genetic diseases ⚠
- p.Ile8Val Single submitter Inborn genetic diseases ⚠
- p.Met346Thr Single submitter Inborn genetic diseases ⚠
- p.Ser195Leu Single submitter Inborn genetic diseases ⚠
- p.Thr364Ile Single submitter Inborn genetic diseases ⚠
- p.Tyr104Cys Single submitter Inborn genetic diseases ⚠
- p.Val74Leu Single submitter Inborn genetic diseases ⚠
Benign 13
- c.559-46A>G Multiple submitters RIDDLE syndrome
- p.Asp103Asn Multiple submitters RIDDLE syndrome
- p.Glu324= Multiple submitters RIDDLE syndrome
- p.Lys387Arg Multiple submitters RIDDLE syndrome ⚠
- p.Lys428= Multiple submitters RIDDLE syndrome
- p.Pro401Gln Multiple submitters RIDDLE syndrome
- p.Pro494Leu Multiple submitters RIDDLE syndrome
- c.378+26del Single submitter RIDDLE syndrome
- c.379-14T>G Single submitter
- p.Ala167Thr Single submitter ⚠
- p.Ala344Thr Single submitter
- p.Phe425Leu Single submitter
- p.Thr426= Single submitter
Benign/Likely benign 5
- c.681-19T>G Multiple submitters RIDDLE syndrome
- p.Cys378Arg Multiple submitters RIDDLE syndrome
- p.Gln288= Multiple submitters RIDDLE syndrome
- p.Glu170Lys Multiple submitters RIDDLE syndrome ⚠
- p.Glu413Lys Multiple submitters RIDDLE syndrome
Likely benign 137
- p.Ala128Val Multiple submitters
- p.Cys355= Multiple submitters
- p.Lys181= Multiple submitters
- c.301+17G>A Single submitter
- c.301+7_301+20del Single submitter
- c.302-17T>C Single submitter
- c.302-19_302-15dup Single submitter
- c.302-19C>A Single submitter
- c.302-8T>C Single submitter
- c.378+11_378+14del Single submitter
- c.378+11A>G Single submitter
- c.378+12_378+16del Single submitter
- c.378+14A>C Single submitter
- c.378+16T>C Single submitter
- c.378+19T>C Single submitter
- c.378+8C>T Single submitter
- c.378+9T>C Single submitter
- c.379-14T>C Single submitter
- c.379-16A>T Single submitter
- c.379-5T>C Single submitter
- c.558+11G>A Single submitter
- c.558+17A>C Single submitter
- c.558+18A>G Single submitter
- c.558+19C>T Single submitter
- c.558+9T>G Single submitter
- c.559-10A>G Single submitter
- c.559-12C>G Single submitter
- c.559-13T>C Single submitter
- c.559-19G>A Single submitter
- c.559-20T>C Single submitter
- c.559-4G>A Single submitter
- c.559-5del Single submitter
- c.559-7G>A Single submitter
- c.559-8T>G Single submitter
- c.680+13G>A Single submitter
- c.681-8T>A Single submitter
- c.681-9T>C Single submitter
- c.762+18A>G Single submitter
- c.763-11G>C Single submitter
- c.763-15T>C Single submitter
- c.763-18T>A Single submitter
- c.763-18T>C Single submitter
- c.763-4A>T Single submitter
- p.Ala101Val Single submitter Inborn genetic diseases
- p.Ala128= Single submitter
- p.Ala161Val Single submitter ⚠
- p.Ala167= Single submitter
- p.Ala179= Single submitter
- p.Ala306= Single submitter
- p.Ala344= Single submitter
- p.Ala47= Single submitter
- p.Ala550= Single submitter
- p.Ala92= Single submitter
- p.Arg159= Single submitter
- p.Arg336= Single submitter
- p.Arg350Lys Single submitter Inborn genetic diseases
- p.Arg447= Single submitter
- p.Arg466= Single submitter
- p.Arg477= Single submitter
- p.Arg56= Single submitter
- p.Arg57= Single submitter
- p.Arg86= Single submitter
- p.Asn532= Single submitter
- p.Asp446= Single submitter
- p.Asp516= Single submitter
- p.Cys378= Single submitter
- p.Cys39= Single submitter
- p.Cys569= Single submitter
- p.Gln452= Single submitter
- p.Gln467= Single submitter
- p.Gln567= Single submitter
- p.Glu143= Single submitter
- p.Glu162= Single submitter
- p.Glu242= Single submitter
- p.Glu376= Single submitter
- p.Glu413= Single submitter
- p.Gly236= Single submitter
- p.Gly513= Single submitter
- p.His240= Single submitter
- p.His330= Single submitter
- p.His551= Single submitter
- p.Ile18= Single submitter
- p.Leu11= Single submitter
- p.Leu29= Single submitter
- p.Leu325= Single submitter
- p.Leu380= Single submitter
- p.Leu435= Single submitter
- p.Leu449= Single submitter
- p.Leu453= Single submitter
- p.Leu523= Single submitter
- p.Leu553= Single submitter
- p.Leu71= Single submitter
- p.Lys383= Single submitter
- p.Lys468= Single submitter
- p.Lys485= Single submitter
- p.Lys560= Single submitter
- p.Lys89= Single submitter
- p.Phe40= Single submitter
- p.Phe53= Single submitter
- p.Pro209= Single submitter
- p.Pro231= Single submitter
- p.Pro26= Single submitter
- p.Pro264= Single submitter
- p.Pro275= Single submitter
- p.Pro30= Single submitter
- p.Pro338= Single submitter
- p.Pro412= Single submitter
- p.Pro510Ser Single submitter Inborn genetic diseases
- p.Pro52= Single submitter
- p.Pro9= Single submitter
- p.Ser111= Single submitter
- p.Ser134= Single submitter
- p.Ser251= Single submitter
- p.Ser259= Single submitter
- p.Ser296= Single submitter
- p.Ser340= Single submitter
- p.Ser377= Single submitter
- p.Ser382= Single submitter
- p.Ser394= Single submitter
- p.Ser411= Single submitter
- p.Ser42= Single submitter
- p.Ser556= Single submitter
- p.Ser60= Single submitter
- p.Ser93= Single submitter
- p.Ter572= Single submitter
- p.Thr208= Single submitter
- p.Thr222= Single submitter
- p.Thr230= Single submitter
- p.Thr43= Single submitter
- p.Tyr228= Single submitter
- p.Tyr309= Single submitter
- p.Tyr339= Single submitter
- p.Val127= Single submitter
- p.Val244= Single submitter
- p.Val398= Single submitter
- p.Val463= Single submitter
- p.Val531= Single submitter
Uncertain significance 182
- p.Ala141Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala7Ser Multiple submitters Inborn genetic diseases ⚠
- p.Arg132Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg148Ser Multiple submitters Inborn genetic diseases ⚠
- p.Arg407Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg466Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg63Gln Multiple submitters Inborn genetic diseases ⚠
- p.Asn368His Multiple submitters Inborn genetic diseases ⚠
- p.Asn488Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn493Ser Multiple submitters Inborn genetic diseases ⚠
- p.Cys326Arg Multiple submitters Inborn genetic diseases ⚠
- p.Cys50Trp Multiple submitters Inborn genetic diseases ⚠
- p.Gln559His Multiple submitters Inborn genetic diseases ⚠
- p.Glu157Gly Multiple submitters RIDDLE syndrome ⚠
- p.Glu177Lys Multiple submitters RIDDLE syndrome ⚠
- p.Glu307Lys Multiple submitters RIDDLE syndrome ⚠
- p.Glu473Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gly513fs Multiple submitters Inborn genetic diseases
- p.Ile186Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile225Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ile256Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile79Met Multiple submitters RIDDLE syndrome ⚠
- p.Ile79Val Multiple submitters ⚠
- p.Leu199Ser Multiple submitters Inborn genetic diseases ⚠
- p.Lys37Ile Multiple submitters Inborn genetic diseases ⚠
- p.Lys82Glu Multiple submitters Inborn genetic diseases ⚠
- p.Pro275Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser111Cys Multiple submitters Inborn genetic diseases ⚠
- p.Ser174Asn Multiple submitters Inborn genetic diseases ⚠
- p.Ser340Leu Multiple submitters RIDDLE syndrome ⚠
- p.Tyr228Cys Multiple submitters Inborn genetic diseases ⚠
- p.Tyr228Ser Multiple submitters Inborn genetic diseases ⚠
- p.Val244Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val314Phe Multiple submitters ⚠
- p.Val410Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val58Leu Multiple submitters Inborn genetic diseases ⚠
- c.302-3T>C Single submitter
- c.378+5G>A Single submitter
- c.559-20T>A Single submitter
- p.Ala128Thr Single submitter Inborn genetic diseases ⚠
- p.Ala179Thr Single submitter Inborn genetic diseases ⚠
- p.Ala450Pro Single submitter ⚠
- p.Ala450Val Single submitter Inborn genetic diseases ⚠
- p.Ala7Thr Single submitter ⚠
- p.Ala92Pro Single submitter ⚠
- p.Ala92Val Single submitter Inborn genetic diseases ⚠
- p.Arg108His Single submitter ⚠
- p.Arg117Lys Single submitter Inborn genetic diseases ⚠
- p.Arg131Gln Single submitter Inborn genetic diseases ⚠
- p.Arg165Gln Single submitter ⚠
- p.Arg165Gly Single submitter Inborn genetic diseases ⚠
- p.Arg166Gly Single submitter RIDDLE syndrome ⚠
- p.Arg466Trp Single submitter ⚠
- p.Arg477Cys Single submitter ⚠
- p.Arg477Gly Single submitter ⚠
- p.Arg477His Single submitter ⚠
- p.Arg56Leu Single submitter ⚠
- p.Arg67Gly Single submitter ⚠
- p.Arg68Lys Single submitter Inborn genetic diseases ⚠
- p.Arg86Ser Single submitter Inborn genetic diseases ⚠
- p.Asn188Ser Single submitter ⚠
- p.Asn313Lys Single submitter ⚠
- p.Asn390Thr Single submitter Inborn genetic diseases ⚠
- p.Asn532delinsSerTer Single submitter RIDDLE syndrome
- p.Asp175Gly Single submitter ⚠
- p.Asp250Glu Single submitter Inborn genetic diseases ⚠
- p.Asp268Gly Single submitter Inborn genetic diseases ⚠
- p.Asp516Glu Single submitter ⚠
- p.Cys348Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys36Ser Single submitter ⚠
- p.Cys50Arg Single submitter Inborn genetic diseases ⚠
- p.Cys544Tyr Single submitter ⚠
- p.Cys88Arg Single submitter Inborn genetic diseases ⚠
- p.Gln15Arg Single submitter Inborn genetic diseases ⚠
- p.Gln219Glu Single submitter ⚠
- p.Gln234Glu Single submitter ⚠
- p.Gln245Pro Single submitter Inborn genetic diseases ⚠
- p.Gln418Lys Single submitter ⚠
- p.Gln442Glu Single submitter Inborn genetic diseases ⚠
- p.Gln490His Single submitter Inborn genetic diseases ⚠
- p.Gln526Glu Single submitter Inborn genetic diseases ⚠
- p.Gln526Lys Single submitter ⚠
- p.Gln567fs Single submitter
- p.Gln567His Single submitter ⚠
- p.Glu123_Ile124delinsVal Single submitter
- p.Glu138Val Single submitter ⚠
- p.Glu153Lys Single submitter Inborn genetic diseases ⚠
- p.Glu154Asp Single submitter Inborn genetic diseases ⚠
- p.Glu25Arg Single submitter
- p.Glu25Gly Single submitter Inborn genetic diseases ⚠
- p.Glu25Lys Single submitter Inborn genetic diseases ⚠
- p.Glu324Ala Single submitter Inborn genetic diseases ⚠
- p.Glu371Ala Single submitter ⚠
- p.Glu384del Single submitter
- p.Glu392Lys Single submitter ⚠
- p.Glu460Asp Single submitter ⚠
- p.Glu75Lys Single submitter ⚠
- p.Glu87Gly Single submitter ⚠
- p.Gly114Ala Single submitter ⚠
- p.Gly192Glu Single submitter Inborn genetic diseases ⚠
- p.Gly349Asp Single submitter Inborn genetic diseases ⚠
- p.Gly349Ser Single submitter ⚠
- p.Gly360Glu Single submitter ⚠
- p.Gly513Val Single submitter Inborn genetic diseases ⚠
- p.Gly94Ser Single submitter ⚠
- p.His33Gln Single submitter ⚠
- p.His507Arg Single submitter ⚠
- p.Ile124Val Single submitter ⚠
- p.Ile184Thr Single submitter Inborn genetic diseases ⚠
- p.Ile186Thr Single submitter Inborn genetic diseases ⚠
- p.Ile22Val Single submitter Inborn genetic diseases ⚠
- p.Ile271Thr Single submitter ⚠
- p.Ile294Val Single submitter ⚠
- p.Ile430Thr Single submitter ⚠
- p.Leu23Phe Single submitter Inborn genetic diseases ⚠
- p.Leu277Val Single submitter ⚠
- p.Leu283Ile Single submitter ⚠
- p.Leu379Arg Single submitter ⚠
- p.Leu476fs Single submitter
- p.Leu487Pro Single submitter ⚠
- p.Leu523Ter Single submitter
- p.Leu553Ile Single submitter ⚠
- p.Lys181Asn Single submitter Inborn genetic diseases ⚠
- p.Lys387Glu Single submitter Inborn genetic diseases ⚠
- p.Lys389Arg Single submitter ⚠
- p.Lys409Arg Single submitter ⚠
- p.Lys455Ter Single submitter
- p.Lys485Arg Single submitter ⚠
- p.Lys485fs Single submitter
- p.Lys545Glu Single submitter ⚠
- p.Lys571Glu Single submitter ⚠
- p.Met298Val Single submitter ⚠
- p.Met536Val Single submitter RNF168-related disorder ⚠
- p.Pro206Leu Single submitter Inborn genetic diseases ⚠
- p.Pro231Leu Single submitter ⚠
- p.Pro30Leu Single submitter ⚠
- p.Pro338Ala Single submitter ⚠
- p.Pro38Ala Single submitter ⚠
- p.Pro401Leu Single submitter Inborn genetic diseases ⚠
- p.Pro464Leu Single submitter ⚠
- p.Pro471Ser Single submitter ⚠
- p.Pro494His Single submitter ⚠
- p.Pro85Ser Single submitter Inborn genetic diseases ⚠
- p.Ser134Thr Single submitter Inborn genetic diseases ⚠
- p.Ser183Gly Single submitter Inborn genetic diseases ⚠
- p.Ser193Asn Single submitter ⚠
- p.Ser195= Single submitter
- p.Ser201Pro Single submitter Inborn genetic diseases ⚠
- p.Ser215Asn Single submitter ⚠
- p.Ser237Ala Single submitter ⚠
- p.Ser251Pro Single submitter Inborn genetic diseases ⚠
- p.Ser282Pro Single submitter ⚠
- p.Ser282Tyr Single submitter Inborn genetic diseases ⚠
- p.Ser296Phe Single submitter ⚠
- p.Ser353Thr Single submitter ⚠
- p.Ser377Leu Single submitter ⚠
- p.Ser42Leu Single submitter ⚠
- p.Ser480Ala Single submitter Inborn genetic diseases ⚠
- p.Ser556Gly Single submitter ⚠
- p.Ser558Leu Single submitter ⚠
- p.Ser70Cys Single submitter ⚠
- p.Ser70Phe Single submitter ⚠
- p.Ser70Tyr Single submitter ⚠
- p.Ser93Cys Single submitter Inborn genetic diseases ⚠
- p.Thr230Pro Single submitter Inborn genetic diseases ⚠
- p.Thr316Ile Single submitter ⚠
- p.Thr335Ser Single submitter ⚠
- p.Thr351Ile Single submitter Inborn genetic diseases ⚠
- p.Thr358Pro Single submitter ⚠
- p.Thr362Ile Single submitter ⚠
- p.Thr372Ile Single submitter ⚠
- p.Thr43Ala Single submitter ⚠
- p.Thr479Ala Single submitter RIDDLE syndrome ⚠
- p.Thr66Ile Single submitter Inborn genetic diseases ⚠
- p.Tyr104Ser Single submitter ⚠
- p.Tyr145Cys Single submitter ⚠
- p.Val252Arg Single submitter
- p.Val252Ile Single submitter ⚠
- p.Val27Ile Single submitter ⚠
- p.Val314Ile Single submitter Inborn genetic diseases ⚠
- p.Val337Ile Single submitter ⚠
- p.Val562Gly Single submitter Inborn genetic diseases ⚠