RPS20 — 344 ClinVar variants
All ClinVar germline RPS20 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 107 flagged for review →
5 Pathogenic · 4 Likely pathogenic · 4 Conflicting · 25 Benign · 3 Benign/Likely benign · 153 Likely benign · 150 Uncertain significance
Full RPS20 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 107
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 lean, ClinVar uncertain 74
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RPS20 p.Arg41Lys Uncertain significance Multiple submitters
-
RPS20 p.Arg87Gln
Uncertain significance
Multiple submitters
hereditary nonpolyposis colon cancer
- RPS20 p.Gly52Arg Uncertain significance Multiple submitters
- RPS20 p.His92Arg Uncertain significance Multiple submitters
- RPS20 p.Ile89Thr Uncertain significance Multiple submitters
- RPS20 p.Leu24Pro Uncertain significance Multiple submitters
-
RPS20 p.Pro53Gln
Uncertain significance
Multiple submitters
hereditary nonpolyposis colon cancer
- RPS20 p.Pro53Leu Uncertain significance Multiple submitters
- RPS20 p.Pro53Ser Uncertain significance Multiple submitters
- RPS20 p.Ser31Phe Uncertain significance Multiple submitters
- RPS20 p.Thr58Ser Uncertain significance Multiple submitters
-
RPS20 p.Thr64Ile
Uncertain significance
Multiple submitters
familial colorectal cancer type X
- RPS20 p.Thr65Ala Uncertain significance Multiple submitters
- RPS20 p.Val11Met Uncertain significance Multiple submitters
- RPS20 p.Val15Met Uncertain significance Multiple submitters
- RPS20 p.Val35Ala Uncertain significance Multiple submitters
- RPS20 p.Ala119Ser Uncertain significance Single submitter
- RPS20 p.Ala16Ser Uncertain significance Single submitter
- RPS20 p.Ala43Gly Uncertain significance Single submitter
- RPS20 p.Arg27Leu Uncertain significance Single submitter
-
RPS20 p.Arg55Gly
Uncertain significance
Single submitter
hereditary nonpolyposis colon cancer
- RPS20 p.Arg79Leu Uncertain significance Single submitter
- RPS20 p.Arg79Ser Uncertain significance Single submitter
- RPS20 p.Arg83Ile Uncertain significance Single submitter
- RPS20 p.Asp38His Uncertain significance Single submitter
- RPS20 p.Asp5Val Uncertain significance Single submitter
- RPS20 p.Asp78Tyr Uncertain significance Single submitter
- RPS20 p.Asp90Gly Uncertain significance Single submitter
- RPS20 p.Cys36Tyr Uncertain significance Single submitter
- RPS20 p.Gln100Pro Uncertain significance Single submitter
- RPS20 p.Gln81His Uncertain significance Single submitter
- RPS20 p.Glu107Val Uncertain significance Single submitter
- RPS20 p.Glu111Asp Uncertain significance Single submitter
- RPS20 p.Glu33Val Uncertain significance Single submitter
-
RPS20 p.Glu45Lys
Uncertain significance
Single submitter
hereditary nonpolyposis colon cancer
- RPS20 p.His18Arg Uncertain significance Single submitter
- RPS20 p.His18Asn Uncertain significance Single submitter
- RPS20 p.His85Tyr Uncertain significance Single submitter
- RPS20 p.Ile40Arg Uncertain significance Single submitter
- RPS20 p.Ile40Val Uncertain significance Single submitter
- RPS20 p.Leu24Arg Uncertain significance Single submitter
- RPS20 p.Leu32Phe Uncertain significance Single submitter
- RPS20 p.Leu39Phe Uncertain significance Single submitter
- RPS20 p.Leu48Phe Uncertain significance Single submitter
- RPS20 p.Leu48Pro Uncertain significance Single submitter
- RPS20 p.Leu61Trp Uncertain significance Single submitter
- RPS20 p.Lys34Gln Uncertain significance Single submitter
- RPS20 p.Lys34Glu Uncertain significance Single submitter
- RPS20 p.Lys34Thr Uncertain significance Single submitter
- RPS20 p.Lys44Glu Uncertain significance Single submitter
- RPS20 p.Lys4Arg Uncertain significance Single submitter
- RPS20 p.Lys86Arg Uncertain significance Single submitter
- RPS20 p.Lys86Thr Uncertain significance Single submitter
- RPS20 p.Met56Leu Uncertain significance Single submitter
- RPS20 p.Pro53Ala Uncertain significance Single submitter
- RPS20 p.Pro53Arg Uncertain significance Single submitter
- RPS20 p.Pro57Leu Uncertain significance Single submitter
- RPS20 p.Pro69Ser Uncertain significance Single submitter
- RPS20 p.Pro94Ser Uncertain significance Single submitter
- RPS20 p.Ser103Tyr Uncertain significance Single submitter
- RPS20 p.Ser31Cys Uncertain significance Single submitter
- RPS20 p.Ser31Pro Uncertain significance Single submitter
- RPS20 p.Ser31Tyr Uncertain significance Single submitter
- RPS20 p.Thr115Asn Uncertain significance Single submitter
- RPS20 p.Thr23Ile Uncertain significance Single submitter
- RPS20 p.Thr23Pro Uncertain significance Single submitter
- RPS20 p.Thr25Arg Uncertain significance Single submitter
- RPS20 p.Thr25Pro Uncertain significance Single submitter
- RPS20 p.Thr58Ala Uncertain significance Single submitter
- RPS20 p.Thr58Ile Uncertain significance Single submitter
- RPS20 p.Thr64Asn Uncertain significance Single submitter
- RPS20 p.Thr6Ala Uncertain significance Single submitter
- RPS20 p.Thr76Met Uncertain significance Single submitter
- RPS20 p.Val15Leu Uncertain significance Single submitter
Predictors split 33
The independent predictors disagree with each other — read with care.
- RPS20 p.Ala119Gly Uncertain significance Multiple submitters
- RPS20 p.Ala16Thr Uncertain significance Multiple submitters
- RPS20 p.Ala16Val Uncertain significance Multiple submitters
-
RPS20 p.Ala2Gly
Uncertain significance
Multiple submitters
hereditary nonpolyposis colon cancer
-
RPS20 p.Ala2Val
Uncertain significance
Multiple submitters
hereditary nonpolyposis colon cancer
-
RPS20 p.Ala37Gly
Uncertain significance
Multiple submitters
hereditary nonpolyposis colon cancer
- RPS20 p.Ile17Val Uncertain significance Multiple submitters
- RPS20 p.Lys44Arg Uncertain significance Multiple submitters
- RPS20 p.Phe80Tyr Uncertain significance Multiple submitters
-
RPS20 p.Pro10Leu
Uncertain significance
Multiple submitters
hereditary nonpolyposis colon cancer
- RPS20 p.Thr76Ser Uncertain significance Multiple submitters
-
RPS20 p.Thr9Ile
Uncertain significance
Multiple submitters
hereditary nonpolyposis colon cancer
- RPS20 p.Ala117Val Uncertain significance Single submitter
- RPS20 p.Ala2Thr Uncertain significance Single submitter
- RPS20 p.Ala37Thr Uncertain significance Single submitter
- RPS20 p.Arg41Ser Uncertain significance Single submitter
-
RPS20 p.Arg79His
Uncertain significance
Single submitter
hereditary nonpolyposis colon cancer
- RPS20 p.Asn28Lys Uncertain significance Single submitter
- RPS20 p.Asp118Gly Uncertain significance Single submitter
- RPS20 p.Asp38Glu Uncertain significance Single submitter
- RPS20 p.Asp5Asn Uncertain significance Single submitter
- RPS20 p.Glu12Asp Uncertain significance Single submitter
- RPS20 p.Glu12Gly Uncertain significance Single submitter
- RPS20 p.Glu12Lys Uncertain significance Single submitter
- RPS20 p.Gly42Ser Uncertain significance Single submitter
- RPS20 p.Gly7Ala Uncertain significance Single submitter
- RPS20 p.Ile63Val Uncertain significance Single submitter
- RPS20 p.Lys49Glu Uncertain significance Single submitter
- RPS20 p.Pro10Ala Uncertain significance Single submitter
- RPS20 p.Pro13Ala Likely benign Single submitter
- RPS20 p.Pro13Gln Uncertain significance Single submitter
- RPS20 p.Thr6Ile Uncertain significance Single submitter
- RPS20 p.Thr6Ser Uncertain significance Single submitter
All RPS20 variants
Pathogenic 5
- p.Ile84Asn Single submitter Diamond-Blackfan anemia
- p.Ile84Ser Single submitter Diamond-Blackfan anemia
- p.Leu48fs Single submitter
- p.Lys46fs Single submitter
- p.Lys49Ter Single submitter familial colorectal cancer type X
Likely pathogenic 4
- c.103+1G>A Single submitter
- c.178-2A>C Single submitter hereditary neoplastic syndrome
- c.3+1G>A Single submitter
- p.Val11fs Single submitter
Conflicting classifications of pathogenicity 4
- c.103+3C>T Single submitter
- c.178-3C>T Single submitter
- c.4-3T>A Single submitter
- p.Lys34= Single submitter
Benign 25
- c.103+88G>C Multiple submitters
- c.104-90T>C Multiple submitters
- c.177+180A>G Multiple submitters
- c.177+19dup Multiple submitters
- c.177+19G>A Multiple submitters
- c.177+76G>C Multiple submitters
- c.178-181G>C Multiple submitters
- c.3+57C>G Multiple submitters
- c.333+263G>C Multiple submitters
- c.4-11T>C Multiple submitters familial colorectal cancer type X
- c.4-19T>C Multiple submitters hereditary neoplastic syndrome
- c.4-3T>C Multiple submitters familial colorectal cancer type X
- c.4-90G>A Multiple submitters
- c.-117G>C Multiple submitters
- c.*35G>A Multiple submitters
- p.Ser115Pro Multiple submitters familial colorectal cancer type X
- p.Thr65= Multiple submitters hereditary neoplastic syndrome
- c.177+19del Single submitter
- c.3+13T>G Single submitter
- c.334-187G>A Single submitter
- c.4-40A>G Single submitter
- c.*21del Single submitter
- c.*35+178G>C Single submitter
- c.*35+220C>T Single submitter
- c.*35+247T>C Single submitter
Benign/Likely benign 3
Likely benign 153
- c.103+13G>C Multiple submitters
- c.104-16C>T Multiple submitters
- c.177+12C>T Multiple submitters
- c.178-9_178-8del Multiple submitters
- c.4-16A>G Multiple submitters
- p.Ala2= Multiple submitters
- p.Arg27= Multiple submitters
- p.Arg62= Multiple submitters
- p.Arg87= Multiple submitters
- p.Asn28= Multiple submitters RPS20-related disorder
- p.Asp90= Multiple submitters
- p.Glu111= Multiple submitters RPS20-related disorder
- p.Gly42= Multiple submitters
- p.Gly7= Multiple submitters
- p.Gly73= Multiple submitters
- p.His18= Multiple submitters
- p.Ile116= Multiple submitters
- p.Leu24= Multiple submitters
- p.Leu39= Multiple submitters
- p.Leu48= Multiple submitters
- p.Leu61= Multiple submitters
- p.Lys46= Multiple submitters
- p.Lys75= Multiple submitters
- p.Lys99= Multiple submitters
- p.Phe3= Multiple submitters
- p.Pro10= Multiple submitters
- p.Pro13= Multiple submitters
- p.Pro94= Multiple submitters
- p.Ser26= Multiple submitters
- p.Ser31= Multiple submitters
- p.Ser74= Multiple submitters RPS20-related disorder
- p.Thr102= Multiple submitters
- p.Thr6= Multiple submitters
- p.Thr64= Multiple submitters
- p.Val35= Multiple submitters
- p.Val50= Multiple submitters Diamond-Blackfan anemia
- c.103+12C>G Single submitter
- c.103+12C>T Single submitter
- c.103+14T>A Single submitter
- c.103+16A>G Single submitter
- c.103+18G>A Single submitter
- c.103+19C>A Single submitter
- c.103+19C>G Single submitter
- c.103+20G>A Single submitter
- c.103+22G>T Single submitter
- c.103+26dup Single submitter
- c.103+43A>C Single submitter
- c.103+7_103+8delinsTT Single submitter
- c.103+8C>T Single submitter
- c.103+9A>G Single submitter
- c.104-11del Single submitter
- c.104-4G>T Single submitter
- c.104-6C>A Single submitter
- c.104-6C>T Single submitter
- c.104-7C>T Single submitter
- c.177+12C>A Single submitter
- c.177+13G>A Single submitter
- c.177+14G>A Single submitter
- c.177+14G>T Single submitter
- c.177+37T>C Single submitter
- c.178-12C>G Single submitter
- c.178-12C>T Single submitter Diamond-Blackfan anemia
- c.178-13T>C Single submitter
- c.178-14G>A Single submitter
- c.178-14G>C Single submitter
- c.178-16T>A Single submitter
- c.178-17T>G Single submitter
- c.178-18C>A Single submitter
- c.178-18C>T Single submitter
- c.178-19C>T Single submitter
- c.178-7G>T Single submitter
- c.3+11A>G Single submitter
- c.3+14C>T Single submitter
- c.3+15G>A Single submitter
- c.3+17C>G Single submitter
- c.3+20C>T Single submitter
- c.3+21G>A Single submitter
- c.3+29C>T Single submitter
- c.3+7C>T Single submitter
- c.3+9G>T Single submitter
- c.334-22del Single submitter
- c.334-25_334-22del Single submitter
- c.334-32C>G Single submitter
- c.334-45T>C Single submitter
- c.334-46A>T Single submitter
- c.334-9G>C Single submitter
- c.4-10C>A Single submitter
- c.4-12A>G Single submitter
- c.4-14G>A Single submitter
- c.4-15T>C Single submitter
- c.4-17C>T Single submitter
- c.4-17dup Single submitter
- c.4-39T>A Single submitter
- c.4-45A>G Single submitter
- c.4-47G>T Single submitter
- c.4-6T>C Single submitter
- c.4-8A>G Single submitter
- c.-22A>G Single submitter
- c.-33A>T Single submitter
- c.-39C>T Single submitter
- c.-44C>T Single submitter
- c.-90G>T Single submitter
- c.*12T>C Single submitter
- c.*21G>A Single submitter
- c.*25T>A Single submitter
- c.*35+8T>A Single submitter
- p.Ala117= Single submitter
- p.Ala119= Single submitter
- p.Ala16= Single submitter
- p.Arg21= Single submitter
- p.Arg41= Single submitter
- p.Arg55= Single submitter
- p.Arg66= Single submitter
- p.Asn47= Single submitter
- p.Asp118= Single submitter
- p.Asp38= Single submitter
- p.Asp5= Single submitter
- p.Cys70= Single submitter
- p.Gln100= Single submitter
- p.Glu14= Single submitter
- p.Glu33= Single submitter
- p.Glu45= Single submitter
- p.Glu96= Single submitter
- p.Gly109= Single submitter
- p.Gly71= Single submitter
- p.His85= Single submitter
- p.His92= Single submitter
- p.Ile22= Single submitter
- p.Ile63= Single submitter
- p.Ile84= Single submitter
- p.Leu32= Single submitter
- p.Leu88= Single submitter
- p.Lys4= Single submitter
- p.Lys8= Single submitter
- p.Lys86= Single submitter
- p.Pro13Ala Single submitter ⚠
- p.Pro141Ala Single submitter hereditary neoplastic syndrome
- p.Pro53= Single submitter
- p.Pro57= Single submitter
- p.Ser103= Single submitter
- p.Ser93= Single submitter
- p.Ser95= Single submitter
- p.Thr115= Single submitter
- p.Thr23= Single submitter
- p.Thr25= Single submitter
- p.Thr58= Single submitter
- p.Thr60= Single submitter
- p.Thr76= Single submitter
- p.Thr9= Single submitter
- p.Thr9Ala Single submitter
- p.Val29= Single submitter
- p.Val54= Single submitter
- c.3+10C>A No assertion criteria RPS20-related disorder
Uncertain significance 150
- c.103+5G>A Multiple submitters
- c.3+5G>A Multiple submitters
- c.4-4A>G Multiple submitters
- c.-3G>T Multiple submitters
- p.Ala119Gly Multiple submitters ⚠
- p.Ala16Thr Multiple submitters ⚠
- p.Ala16Val Multiple submitters ⚠
- p.Ala2Gly Multiple submitters hereditary nonpolyposis colon cancer ⚠
- p.Ala2Val Multiple submitters hereditary nonpolyposis colon cancer ⚠
- p.Ala37Gly Multiple submitters hereditary nonpolyposis colon cancer ⚠
- p.Arg41Lys Multiple submitters ⚠
- p.Arg87Gln Multiple submitters hereditary nonpolyposis colon cancer ⚠
- p.Gly52Arg Multiple submitters ⚠
- p.His92Arg Multiple submitters ⚠
- p.Ile17Val Multiple submitters ⚠
- p.Ile89Thr Multiple submitters ⚠
- p.Leu24Pro Multiple submitters ⚠
- p.Lys44Arg Multiple submitters ⚠
- p.Lys46del Multiple submitters
- p.Phe80Tyr Multiple submitters ⚠
- p.Pro10Leu Multiple submitters hereditary nonpolyposis colon cancer ⚠
- p.Pro53Gln Multiple submitters hereditary nonpolyposis colon cancer ⚠
- p.Pro53Leu Multiple submitters ⚠
- p.Pro53Ser Multiple submitters ⚠
- p.Ser31Phe Multiple submitters ⚠
- p.Ser95del Multiple submitters
- p.Thr58Ser Multiple submitters ⚠
- p.Thr64Ile Multiple submitters familial colorectal cancer type X ⚠
- p.Thr65Ala Multiple submitters ⚠
- p.Thr76Ser Multiple submitters ⚠
- p.Thr9Ile Multiple submitters hereditary nonpolyposis colon cancer ⚠
- p.Val11Met Multiple submitters ⚠
- p.Val15Met Multiple submitters ⚠
- p.Val35Ala Multiple submitters ⚠
- p.Val50fs Multiple submitters
- c.103+4A>C Single submitter
- c.103+4A>G Single submitter
- c.173_177+165dup Single submitter
- c.177+18G>A Single submitter
- c.177+1G>A Single submitter
- c.177+2T>C Single submitter
- c.177+4A>G Single submitter
- c.177+6G>A Single submitter
- c.178-3C>A Single submitter
- c.3+11_3+13delinsGGG Single submitter Diamond-Blackfan anemia
- c.3+11_3+20del Single submitter
- c.3+2T>C Single submitter
- c.3+3G>A Single submitter
- c.4-1G>C Single submitter
- c.4-5A>G Single submitter
- c.-3G>A Single submitter
- c.-5C>T Single submitter
- c.*34A>C Single submitter
- p.Ala117Val Single submitter ⚠
- p.Ala119Ser Single submitter ⚠
- p.Ala16Ser Single submitter ⚠
- p.Ala2Thr Single submitter ⚠
- p.Ala37Thr Single submitter ⚠
- p.Ala43Gly Single submitter ⚠
- p.Arg27Leu Single submitter ⚠
- p.Arg41Ser Single submitter ⚠
- p.Arg55Gly Single submitter hereditary nonpolyposis colon cancer ⚠
- p.Arg55Ter Single submitter
- p.Arg79His Single submitter hereditary nonpolyposis colon cancer ⚠
- p.Arg79Leu Single submitter ⚠
- p.Arg79Ser Single submitter ⚠
- p.Arg83Ile Single submitter ⚠
- p.Arg87fs Single submitter
- p.Asn28Lys Single submitter ⚠
- p.Asn47_Leu48del Single submitter
- p.Asp117Val Single submitter
- p.Asp118Gly Single submitter ⚠
- p.Asp38Glu Single submitter ⚠
- p.Asp38His Single submitter ⚠
- p.Asp5Asn Single submitter ⚠
- p.Asp5Val Single submitter ⚠
- p.Asp78Tyr Single submitter ⚠
- p.Asp90Gly Single submitter ⚠
- p.Cys140Arg Single submitter
- p.Cys140Ser Single submitter
- p.Cys36Tyr Single submitter ⚠
- p.Gln100Pro Single submitter ⚠
- p.Gln100Ter Single submitter
- p.Gln81His Single submitter ⚠
- p.Glu107Val Single submitter ⚠
- p.Glu111Asp Single submitter ⚠
- p.Glu12Asp Single submitter ⚠
- p.Glu12Gly Single submitter ⚠
- p.Glu12Lys Single submitter ⚠
- p.Glu135Lys Single submitter
- p.Glu33Val Single submitter ⚠
- p.Glu45Lys Single submitter hereditary nonpolyposis colon cancer ⚠
- p.Glu96Ter Single submitter
- p.Gly125Ser Single submitter
- p.Gly42Ser Single submitter ⚠
- p.Gly7_Thr9delinsVal Single submitter
- p.Gly7Ala Single submitter ⚠
- p.His18Arg Single submitter ⚠
- p.His18Asn Single submitter ⚠
- p.His85Tyr Single submitter ⚠
- p.Ile116Val Single submitter
- p.Ile40Arg Single submitter ⚠
- p.Ile40Val Single submitter ⚠
- p.Ile63Val Single submitter ⚠
- p.Leu24Arg Single submitter ⚠
- p.Leu32Phe Single submitter ⚠
- p.Leu39Phe Single submitter ⚠
- p.Leu48Phe Single submitter ⚠
- p.Leu48Pro Single submitter ⚠
- p.Leu61fs Single submitter
- p.Leu61Trp Single submitter ⚠
- p.Lys34Gln Single submitter ⚠
- p.Lys34Glu Single submitter ⚠
- p.Lys34Thr Single submitter ⚠
- p.Lys44Glu Single submitter ⚠
- p.Lys49Glu Single submitter ⚠
- p.Lys4Arg Single submitter ⚠
- p.Lys59= Single submitter
- p.Lys86Arg Single submitter ⚠
- p.Lys86Thr Single submitter ⚠
- p.Met1Ile Single submitter
- p.Met56Leu Single submitter ⚠
- p.Pro10Ala Single submitter ⚠
- p.Pro13Gln Single submitter ⚠
- p.Pro53Ala Single submitter ⚠
- p.Pro53Arg Single submitter ⚠
- p.Pro57Leu Single submitter ⚠
- p.Pro69Ser Single submitter ⚠
- p.Pro94Ser Single submitter ⚠
- p.Ser103Tyr Single submitter ⚠
- p.Ser31Asn Single submitter
- p.Ser31Cys Single submitter ⚠
- p.Ser31Pro Single submitter ⚠
- p.Ser31Tyr Single submitter ⚠
- p.Thr115Asn Single submitter ⚠
- p.Thr23Ile Single submitter ⚠
- p.Thr23Pro Single submitter ⚠
- p.Thr25Arg Single submitter ⚠
- p.Thr25Pro Single submitter ⚠
- p.Thr58Ala Single submitter ⚠
- p.Thr58Ile Single submitter ⚠
- p.Thr64Asn Single submitter ⚠
- p.Thr6Ala Single submitter ⚠
- p.Thr6Ile Single submitter ⚠
- p.Thr6Ser Single submitter ⚠
- p.Thr76Met Single submitter ⚠
- p.Thr9fs Single submitter
- p.Val112fs Single submitter
- p.Val15Leu Single submitter ⚠
- p.Pro137Leu No assertion criteria