UBR4 — 608 ClinVar variants
All ClinVar germline UBR4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 286 flagged for review →
2 Likely pathogenic · 2 Conflicting · 49 Benign · 8 Benign/Likely benign · 84 Likely benign · 463 Uncertain significance
Full UBR4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 286
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 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
Predictors agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 247
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 247
- UBR4 p.Ala2797Thr Uncertain significance Multiple submitters
-
UBR4 p.Arg641His
Uncertain significance
Multiple submitters
UBR4-associated neurodevelopmental syndrome
-
UBR4 p.Pro4610Thr
Uncertain significance
Multiple submitters
UBR4-related disorder
- UBR4 p.Pro5171Ala Uncertain significance Multiple submitters
- UBR4 p.Thr1108Ile Uncertain significance Multiple submitters
- UBR4 p.Ala1144Pro Uncertain significance Single submitter
- UBR4 p.Ala1211Thr Uncertain significance Single submitter
- UBR4 p.Ala1267Ser Uncertain significance Single submitter
- UBR4 p.Ala1348Thr Uncertain significance Single submitter
- UBR4 p.Ala1366Val Uncertain significance Single submitter
- UBR4 p.Ala1582Thr Uncertain significance Single submitter
- UBR4 p.Ala207Thr Uncertain significance Single submitter
- UBR4 p.Ala2133Ser Uncertain significance Single submitter
- UBR4 p.Ala2134Ser Uncertain significance Single submitter
- UBR4 p.Ala2419Ser Uncertain significance Single submitter
- UBR4 p.Ala2519Val Uncertain significance Single submitter
- UBR4 p.Ala2692Thr Uncertain significance Single submitter
- UBR4 p.Ala2928Pro Uncertain significance Single submitter
- UBR4 p.Ala3047Thr Uncertain significance Single submitter
- UBR4 p.Ala3284Thr Uncertain significance Single submitter
- UBR4 p.Ala3895Thr Uncertain significance Single submitter
- UBR4 p.Ala4137Thr Uncertain significance Single submitter
- UBR4 p.Ala4140Val Uncertain significance Single submitter
- UBR4 p.Ala4181Ser Uncertain significance Single submitter
- UBR4 p.Ala428Val Uncertain significance Single submitter
- UBR4 p.Ala4557Thr Uncertain significance Single submitter
- UBR4 p.Ala4783Thr Uncertain significance Single submitter
- UBR4 p.Ala5089Thr Uncertain significance Single submitter
- UBR4 p.Ala5089Val Uncertain significance Single submitter
- UBR4 p.Ala5138Val Uncertain significance Single submitter
- UBR4 p.Ala770Thr Uncertain significance Single submitter
- UBR4 p.Ala794Val Uncertain significance Single submitter
- UBR4 p.Ala892Thr Uncertain significance Single submitter
- UBR4 p.Ala952Val Uncertain significance Single submitter
- UBR4 p.Arg258His Uncertain significance Single submitter
- UBR4 p.Arg2721Gln Uncertain significance Single submitter
- UBR4 p.Arg2989Gln Uncertain significance Single submitter
- UBR4 p.Arg2995Gln Uncertain significance Single submitter
- UBR4 p.Arg3588Trp Uncertain significance Single submitter
- UBR4 p.Arg359Gln Uncertain significance Single submitter
- UBR4 p.Arg3844Gln Uncertain significance Single submitter
- UBR4 p.Arg3922Trp Uncertain significance Single submitter
- UBR4 p.Arg4112Gln Uncertain significance Single submitter
- UBR4 p.Arg4112Gly Uncertain significance Single submitter
- UBR4 p.Arg4112Trp Uncertain significance Single submitter
- UBR4 p.Arg4130Gln Uncertain significance Single submitter
- UBR4 p.Arg4142Gln Uncertain significance Single submitter
- UBR4 p.Arg4219His Uncertain significance Single submitter
- UBR4 p.Arg827Gln Uncertain significance Single submitter
- UBR4 p.Arg849Cys Uncertain significance Single submitter
- UBR4 p.Arg849His Uncertain significance Single submitter
- UBR4 p.Arg901Leu Uncertain significance Single submitter
- UBR4 p.Arg902Gln Uncertain significance Single submitter
- UBR4 p.Arg94Gln Uncertain significance Single submitter
- UBR4 p.Asn1182Lys Uncertain significance Single submitter
- UBR4 p.Asn1234Ser Uncertain significance Single submitter
- UBR4 p.Asn1364Ser Uncertain significance Single submitter
- UBR4 p.Asn1418Asp Uncertain significance Single submitter
- UBR4 p.Asn1558His Uncertain significance Single submitter
- UBR4 p.Asn1583Ser Uncertain significance Single submitter
- UBR4 p.Asn1804Ile Uncertain significance Single submitter
- UBR4 p.Asn1816Ser Uncertain significance Single submitter
- UBR4 p.Asn2090Asp Uncertain significance Single submitter
- UBR4 p.Asn2155Ser Uncertain significance Single submitter
- UBR4 p.Asn221Asp Uncertain significance Single submitter
- UBR4 p.Asn2784Ser Uncertain significance Single submitter
- UBR4 p.Asn3178His Uncertain significance Single submitter
- UBR4 p.Asn3506Ser Uncertain significance Single submitter
- UBR4 p.Asn3738Ser Uncertain significance Single submitter
- UBR4 p.Asn4083Ser Uncertain significance Single submitter
- UBR4 p.Asn4869Ser Uncertain significance Single submitter
- UBR4 p.Asn5105Asp Uncertain significance Single submitter
- UBR4 p.Asn714Ser Uncertain significance Single submitter
- UBR4 p.Asn729His Uncertain significance Single submitter
- UBR4 p.Asn95Ser Uncertain significance Single submitter
- UBR4 p.Asp2098Asn Uncertain significance Single submitter
- UBR4 p.Asp2434Glu Uncertain significance Single submitter
- UBR4 p.Asp2463Asn Uncertain significance Single submitter
- UBR4 p.Asp2735Glu Uncertain significance Single submitter
- UBR4 p.Asp3038Asn Uncertain significance Single submitter
- UBR4 p.Asp4069Gly Uncertain significance Single submitter
- UBR4 p.Asp4645Val Uncertain significance Single submitter
- UBR4 p.Asp4693Glu Uncertain significance Single submitter
- UBR4 p.Asp4776Glu Uncertain significance Single submitter
- UBR4 p.Asp5101Asn Uncertain significance Single submitter
- UBR4 p.Cys2222Tyr Uncertain significance Single submitter
- UBR4 p.Cys2618Ser Uncertain significance Single submitter
- UBR4 p.Gln1465Glu Uncertain significance Single submitter
- UBR4 p.Gln1481His Uncertain significance Single submitter
- UBR4 p.Gln1486His Uncertain significance Single submitter
- UBR4 p.Gln224Arg Uncertain significance Single submitter
- UBR4 p.Gln2598Glu Uncertain significance Single submitter
- UBR4 p.Gln3362Arg Uncertain significance Single submitter
- UBR4 p.Gln4057Leu Uncertain significance Single submitter
- UBR4 p.Gln4689Arg Uncertain significance Single submitter
- UBR4 p.Gln583Pro Uncertain significance Single submitter
- UBR4 p.Glu1114Gly Uncertain significance Single submitter
- UBR4 p.Glu1399Gly Uncertain significance Single submitter
- UBR4 p.Glu2142Val Uncertain significance Single submitter
- UBR4 p.Glu2507Gln Uncertain significance Single submitter
- UBR4 p.Glu3376Gly Uncertain significance Single submitter
- UBR4 p.Glu4471Val Uncertain significance Single submitter
- UBR4 p.Glu4636Gln Uncertain significance Single submitter
- UBR4 p.Glu5116Ala Uncertain significance Single submitter
- UBR4 p.Glu5153Asp Uncertain significance Single submitter
- UBR4 p.Glu604Gln Uncertain significance Single submitter
- UBR4 p.Gly1529Ser Uncertain significance Single submitter
- UBR4 p.Gly2372Ser Uncertain significance Single submitter
- UBR4 p.Gly2749Asp Uncertain significance Single submitter
- UBR4 p.Gly499Val Uncertain significance Single submitter
- UBR4 p.His1037Arg Uncertain significance Single submitter
- UBR4 p.His1448Arg Uncertain significance Single submitter
- UBR4 p.His4503Tyr Uncertain significance Single submitter
- UBR4 p.His4939Arg Uncertain significance Single submitter
- UBR4 p.Ile1012Val Uncertain significance Single submitter
- UBR4 p.Ile1047Val Uncertain significance Single submitter
- UBR4 p.Ile1059Thr Uncertain significance Single submitter
- UBR4 p.Ile1089Val Uncertain significance Single submitter
- UBR4 p.Ile1329Met Uncertain significance Single submitter
- UBR4 p.Ile1337Val Uncertain significance Single submitter
- UBR4 p.Ile1410Val Uncertain significance Single submitter
- UBR4 p.Ile1630Val Uncertain significance Single submitter
- UBR4 p.Ile2070Met Uncertain significance Single submitter
- UBR4 p.Ile233Val Uncertain significance Single submitter
- UBR4 p.Ile2422Val Uncertain significance Single submitter
- UBR4 p.Ile2495Val Uncertain significance Single submitter
- UBR4 p.Ile2663Val Uncertain significance Single submitter
- UBR4 p.Ile2752Asn Uncertain significance Single submitter
- UBR4 p.Ile3288Val Uncertain significance Single submitter
- UBR4 p.Ile3566Val Uncertain significance Single submitter
- UBR4 p.Ile3635Phe Uncertain significance Single submitter
- UBR4 p.Ile3635Val Uncertain significance Single submitter
- UBR4 p.Ile3642Thr Uncertain significance Single submitter
- UBR4 p.Ile377Val Uncertain significance Single submitter
- UBR4 p.Ile3884Val Uncertain significance Single submitter
- UBR4 p.Ile3979Val Uncertain significance Single submitter
- UBR4 p.Ile421Val Uncertain significance Single submitter
- UBR4 p.Ile4379Val Uncertain significance Single submitter
- UBR4 p.Ile5134Val Uncertain significance Single submitter
- UBR4 p.Ile836Thr Uncertain significance Single submitter
- UBR4 p.Leu1218Met Uncertain significance Single submitter
- UBR4 p.Leu2141Val Uncertain significance Single submitter
- UBR4 p.Leu2144Met Uncertain significance Single submitter
- UBR4 p.Leu2532Val Uncertain significance Single submitter
- UBR4 p.Leu2614Ser Uncertain significance Single submitter
- UBR4 p.Leu2981Phe Uncertain significance Single submitter
- UBR4 p.Leu3327Val Uncertain significance Single submitter
- UBR4 p.Leu3988Pro Uncertain significance Single submitter
- UBR4 p.Leu415Val Uncertain significance Single submitter
- UBR4 p.Leu5102Val Uncertain significance Single submitter
Predictors split 37
The independent predictors disagree with each other — read with care.
- UBR4 p.Ala1095Thr Uncertain significance Single submitter
- UBR4 p.Ala2209Val Uncertain significance Single submitter
- UBR4 p.Ala4181Asp Uncertain significance Single submitter
- UBR4 p.Arg2270Pro Uncertain significance Single submitter
- UBR4 p.Arg4727Trp Uncertain significance Single submitter
- UBR4 p.Asn3289Ser Uncertain significance Single submitter
- UBR4 p.Asn3596Lys Uncertain significance Single submitter
- UBR4 p.Asn3936Lys Uncertain significance Single submitter
- UBR4 p.Asn3961Lys Uncertain significance Single submitter
- UBR4 p.Asp2903Asn Uncertain significance Single submitter
- UBR4 p.Asp3530Asn Uncertain significance Single submitter
- UBR4 p.Cys2029Trp Uncertain significance Single submitter
- UBR4 p.Cys2489Trp Uncertain significance Single submitter
- UBR4 p.Gln752His Uncertain significance Single submitter
- UBR4 p.Glu571Asp Uncertain significance Single submitter
- UBR4 p.Gly4494Arg Uncertain significance Single submitter
- UBR4 p.Ile5127Phe Uncertain significance Single submitter
- UBR4 p.Ile599Phe Uncertain significance Single submitter
- UBR4 p.Leu247Ile Uncertain significance Single submitter
- UBR4 p.Leu4544Val Uncertain significance Single submitter
- UBR4 p.Met2349Ile Uncertain significance Single submitter
- UBR4 p.Phe239Leu Uncertain significance Single submitter
- UBR4 p.Phe2767Leu Uncertain significance Single submitter
- UBR4 p.Pro2802His Uncertain significance Single submitter
- UBR4 p.Pro72Ser Uncertain significance Single submitter
- UBR4 p.Pro746Ser Uncertain significance Single submitter
- UBR4 p.Ser2868Leu Uncertain significance Single submitter
- UBR4 p.Ser2900Asn Uncertain significance Single submitter
- UBR4 p.Ser4157Arg Uncertain significance Single submitter
- UBR4 p.Thr2877Ala Uncertain significance Single submitter
- UBR4 p.Thr288Ala Uncertain significance Single submitter
- UBR4 p.Val1201Leu Uncertain significance Single submitter
- UBR4 p.Val1897Leu Uncertain significance Single submitter
- UBR4 p.Val2049Gly Uncertain significance Single submitter
- UBR4 p.Val4635Leu Uncertain significance Single submitter
-
UBR4 p.Arg2711Gln
Uncertain significance
No assertion criteria
UBR4-related disorder
-
UBR4 p.Gln519His
Uncertain significance
No assertion criteria
long QT syndrome
All UBR4 variants
Likely pathogenic 2
- p.Asn2344Ser No assertion criteria Short stature ⚠
- p.Gly2109Ser No assertion criteria Short stature
Conflicting classifications of pathogenicity 2
- p.His1598Leu Single submitter
- p.Ile2653Val Single submitter ⚠
Benign 49
- c.4212-14A>G Multiple submitters
- c.5760+10C>T Multiple submitters
- c.7629+7G>T Multiple submitters
- p.Ala1126= Multiple submitters
- p.Ala177Ser Multiple submitters
- p.Ala3149= Multiple submitters
- p.Glu2435= Multiple submitters
- p.Leu3327= Multiple submitters
- p.Leu3699= Multiple submitters
- p.Leu3931= Multiple submitters
- p.Lys3377= Multiple submitters
- p.Lys4793= Multiple submitters
- p.Pro2333= Multiple submitters
- p.Ser1151= Multiple submitters
- p.Ser619= Multiple submitters
- p.Ser893Asn Multiple submitters
- p.Thr2276= Multiple submitters
- p.Thr3554= Multiple submitters
- p.Thr4265= Multiple submitters
- c.11328+56C>G Single submitter
- c.1495-7C>G Single submitter
- c.274+3A>G Single submitter
- c.4211+10G>A Single submitter
- c.4313-10C>T Single submitter
- c.4765-7C>T Single submitter
- c.9111+9T>C Single submitter
- p.Ala1641= Single submitter
- p.Arg901His Single submitter
- p.Asn1369His Single submitter
- p.Gln593= Single submitter
- p.Ser3815= Single submitter
- p.Ser4975= Single submitter
- p.Thr822Ser Single submitter
- p.Tyr70= Single submitter
- p.Val4277= Single submitter
- c.15325-4G>T No assertion criteria UBR4-related disorder
- c.2099-4T>C No assertion criteria UBR4-related disorder
- p.Ala3335= No assertion criteria UBR4-related disorder
- p.His4959= No assertion criteria UBR4-related disorder
- p.Ile2653= No assertion criteria UBR4-related disorder
- p.Ile3550Val No assertion criteria UBR4-related disorder
- p.Leu4748= No assertion criteria UBR4-related disorder
- p.Leu5123= No assertion criteria UBR4-related disorder
- p.Met4867Leu No assertion criteria UBR4-related disorder
- p.Pro1190Leu No assertion criteria UBR4-related disorder
- p.Ser1048= No assertion criteria UBR4-related disorder
- p.Ser2131= No assertion criteria UBR4-related disorder
- p.Thr1107Ala No assertion criteria UBR4-related disorder
- p.Val4039= No assertion criteria UBR4-related disorder
Benign/Likely benign 8
- c.15234-9C>G Multiple submitters
- p.Gln3752= Multiple submitters
- p.Gly3314= Multiple submitters
- p.Leu1004= Multiple submitters
- p.Leu3089= Multiple submitters
- p.Lys2550= Multiple submitters
- p.Met844Val Multiple submitters
- p.Tyr1877= Multiple submitters
Likely benign 84
- c.14111+8G>C Multiple submitters
- p.Ala1127= Multiple submitters
- p.Gly894Val Multiple submitters
- p.Thr1272Ile Multiple submitters
- c.10824-4C>G Single submitter
- c.11892+8G>A Single submitter
- c.13023+8del Single submitter
- c.14112-4G>C Single submitter
- c.3644-8G>A Single submitter
- c.508+4G>A Single submitter
- c.5760+3G>A Single submitter
- c.6458+7A>G Single submitter
- c.752-7C>T Single submitter
- c.9112-4G>T Single submitter
- p.Ala1831= Single submitter
- p.Ala4575= Single submitter
- p.Arg1174= Single submitter
- p.Arg1248= Single submitter
- p.Arg3057= Single submitter
- p.Asn1306= Single submitter
- p.Asn1488= Single submitter
- p.Asn4534= Single submitter
- p.Asn899Ser Single submitter
- p.Asp2870= Single submitter
- p.Gly1507= Single submitter
- p.Gly2335= Single submitter
- p.Gly2750= Single submitter
- p.Gly4494= Single submitter
- p.Gly743= Single submitter
- p.His2665= Single submitter
- p.His3100= Single submitter
- p.Ile2368= Single submitter
- p.Ile4831= Single submitter
- p.Leu2033= Single submitter
- p.Leu2122= Single submitter
- p.Leu278Ser Single submitter
- p.Leu382= Single submitter
- p.Lys1579= Single submitter
- p.Lys2130Arg Single submitter
- p.Lys3042= Single submitter
- p.Phe4134Val Single submitter
- p.Pro2148Ser Single submitter
- p.Pro2610= Single submitter
- p.Pro2802= Single submitter
- p.Pro3758= Single submitter
- p.Pro631Ser Single submitter
- p.Ser1474= Single submitter
- p.Ser2066= Single submitter
- p.Ser2537= Single submitter
- p.Ser2773= Single submitter
- p.Ser3666= Single submitter
- p.Ser4067= Single submitter
- p.Ser5088= Single submitter
- p.Thr1287= Single submitter
- p.Thr1469= Single submitter
- p.Thr2220= Single submitter
- p.Thr2220Met Single submitter
- p.Thr3085= Single submitter
- p.Thr3175Ala Single submitter
- p.Thr3499= Single submitter
- p.Thr3885= Single submitter
- p.Thr4316= Single submitter
- p.Thr5169= Single submitter
- p.Val2192= Single submitter
- p.Val3101= Single submitter
- c.11893-4C>G No assertion criteria UBR4-related disorder
- c.14545-10G>A No assertion criteria UBR4-related disorder
- c.2637+5A>G No assertion criteria UBR4-related disorder
- p.Ala2546= No assertion criteria UBR4-related disorder
- p.Ala3709= No assertion criteria UBR4-related disorder
- p.Ala4907= No assertion criteria UBR4-related disorder
- p.Asn2330Ser No assertion criteria UBR4-related disorder
- p.Cys3875= No assertion criteria UBR4-related disorder
- p.Ile1329= No assertion criteria UBR4-related disorder
- p.Lys1569= No assertion criteria UBR4-related disorder
- p.Phe4968= No assertion criteria UBR4-related disorder
- p.Pro2644= No assertion criteria UBR4-related disorder
- p.Pro4991= No assertion criteria UBR4-related disorder
- p.Ser2851= No assertion criteria UBR4-related disorder
- p.Ser2952= No assertion criteria UBR4-related disorder
- p.Thr4230= No assertion criteria UBR4-related disorder
- p.Tyr4999= No assertion criteria UBR4-related disorder
- p.Val1852= No assertion criteria UBR4-related disorder
- p.Val914= No assertion criteria UBR4-related disorder
Uncertain significance 463
Showing the top 300 by review status; the full set is in the sitemap.
- p.Ala2797Thr Multiple submitters ⚠
- p.Arg1349Gly Multiple submitters UBR4-associated neurodevelopmental syndrome
- p.Arg641His Multiple submitters UBR4-associated neurodevelopmental syndrome ⚠
- p.Pro4610Thr Multiple submitters UBR4-related disorder ⚠
- p.Pro5171Ala Multiple submitters ⚠
- p.Pro5183Thr Multiple submitters
- p.Thr1108Ile Multiple submitters ⚠
- c.13391-1G>A Single submitter
- c.6459-1G>A Single submitter
- p.Ala1095Thr Single submitter ⚠
- p.Ala1144Pro Single submitter ⚠
- p.Ala1211Thr Single submitter ⚠
- p.Ala123fs Single submitter
- p.Ala1267Ser Single submitter ⚠
- p.Ala1348Thr Single submitter ⚠
- p.Ala1366Val Single submitter ⚠
- p.Ala1457Val Single submitter
- p.Ala1560Val Single submitter
- p.Ala1582Thr Single submitter ⚠
- p.Ala207Thr Single submitter ⚠
- p.Ala2133Ser Single submitter ⚠
- p.Ala2134Ser Single submitter ⚠
- p.Ala2209Val Single submitter ⚠
- p.Ala2419Ser Single submitter ⚠
- p.Ala2519Val Single submitter ⚠
- p.Ala2645Val Single submitter
- p.Ala2692Thr Single submitter ⚠
- p.Ala2928Pro Single submitter ⚠
- p.Ala2996Val Single submitter
- p.Ala3047Thr Single submitter ⚠
- p.Ala3150Thr Single submitter
- p.Ala3284Thr Single submitter ⚠
- p.Ala3645Val Single submitter
- p.Ala3702Asp Single submitter
- p.Ala374Ser Single submitter
- p.Ala374Thr Single submitter
- p.Ala3800Val Single submitter
- p.Ala3895Thr Single submitter ⚠
- p.Ala4137Thr Single submitter ⚠
- p.Ala4140Val Single submitter ⚠
- p.Ala4181Asp Single submitter ⚠
- p.Ala4181Ser Single submitter ⚠
- p.Ala428Val Single submitter ⚠
- p.Ala4317Val Single submitter
- p.Ala4557Thr Single submitter ⚠
- p.Ala4783Thr Single submitter ⚠
- p.Ala5089Thr Single submitter ⚠
- p.Ala5089Val Single submitter ⚠
- p.Ala5138Val Single submitter ⚠
- p.Ala770Thr Single submitter ⚠
- p.Ala794Val Single submitter ⚠
- p.Ala892Thr Single submitter ⚠
- p.Ala952Val Single submitter ⚠
- p.Arg114Ser Single submitter
- p.Arg1463Cys Single submitter
- p.Arg1470His Single submitter
- p.Arg1470Leu Single submitter
- p.Arg1501Gly Single submitter
- p.Arg1837His Single submitter UBR4-related disorder
- p.Arg2227Trp Single submitter
- p.Arg2270Pro Single submitter ⚠
- p.Arg2272His Single submitter
- p.Arg2280His Single submitter
- p.Arg2353Gln Single submitter
- p.Arg2536His Single submitter
- p.Arg2572Lys Single submitter
- p.Arg2578Cys Single submitter
- p.Arg2584His Single submitter
- p.Arg258His Single submitter ⚠
- p.Arg2721Gln Single submitter ⚠
- p.Arg296Cys Single submitter
- p.Arg2974Leu Single submitter
- p.Arg2989Gln Single submitter ⚠
- p.Arg2995Gln Single submitter ⚠
- p.Arg2995Trp Single submitter
- p.Arg325His Single submitter
- p.Arg3498Gln Single submitter
- p.Arg3588Trp Single submitter ⚠
- p.Arg3597Gln Single submitter
- p.Arg359Gln Single submitter ⚠
- p.Arg3844Gln Single submitter ⚠
- p.Arg3916Gln Single submitter
- p.Arg3922Trp Single submitter ⚠
- p.Arg397Gln Single submitter
- p.Arg397Trp Single submitter
- p.Arg4112Gln Single submitter ⚠
- p.Arg4112Gly Single submitter ⚠
- p.Arg4112Trp Single submitter ⚠
- p.Arg4130Gln Single submitter ⚠
- p.Arg4142Gln Single submitter ⚠
- p.Arg4203Trp Single submitter
- p.Arg4219His Single submitter ⚠
- p.Arg4522Gln Single submitter
- p.Arg4716His Single submitter
- p.Arg4727Trp Single submitter ⚠
- p.Arg4872Gln Single submitter
- p.Arg4983Gln Single submitter
- p.Arg5091His Single submitter
- p.Arg641Cys Single submitter
- p.Arg666Gln Single submitter
- p.Arg666Trp Single submitter
- p.Arg827Gln Single submitter ⚠
- p.Arg827Gly Single submitter
- p.Arg827Trp Single submitter
- p.Arg849Cys Single submitter ⚠
- p.Arg849His Single submitter ⚠
- p.Arg901Leu Single submitter ⚠
- p.Arg902Gln Single submitter ⚠
- p.Arg94Gln Single submitter ⚠
- p.Asn1182Lys Single submitter ⚠
- p.Asn1234Ser Single submitter ⚠
- p.Asn1249Ser Single submitter
- p.Asn1306Lys Single submitter
- p.Asn1364Ser Single submitter ⚠
- p.Asn1418Asp Single submitter ⚠
- p.Asn1558His Single submitter ⚠
- p.Asn1583Ser Single submitter ⚠
- p.Asn1804Ile Single submitter ⚠
- p.Asn1816Ser Single submitter ⚠
- p.Asn2090Asp Single submitter ⚠
- p.Asn2155Ser Single submitter ⚠
- p.Asn221Asp Single submitter ⚠
- p.Asn2784Ser Single submitter ⚠
- p.Asn3178His Single submitter ⚠
- p.Asn3289Ser Single submitter ⚠
- p.Asn3506Ser Single submitter ⚠
- p.Asn3596Lys Single submitter ⚠
- p.Asn3607= Single submitter neurodevelopmental disorder
- p.Asn3738Ser Single submitter ⚠
- p.Asn3936Lys Single submitter ⚠
- p.Asn3961Lys Single submitter ⚠
- p.Asn4050Lys Single submitter
- p.Asn4083Ser Single submitter ⚠
- p.Asn4574Ile Single submitter
- p.Asn4869Ser Single submitter ⚠
- p.Asn5105Asp Single submitter ⚠
- p.Asn714Ser Single submitter ⚠
- p.Asn729His Single submitter ⚠
- p.Asn95Ser Single submitter ⚠
- p.Asp1373Val Single submitter
- p.Asp1624Val Single submitter
- p.Asp2098Asn Single submitter ⚠
- p.Asp2434Glu Single submitter ⚠
- p.Asp2463Asn Single submitter ⚠
- p.Asp2735Glu Single submitter ⚠
- p.Asp2903Asn Single submitter ⚠
- p.Asp3011Glu Single submitter
- p.Asp3038Asn Single submitter ⚠
- p.Asp3530Asn Single submitter ⚠
- p.Asp3806Val Single submitter
- p.Asp4069Gly Single submitter ⚠
- p.Asp4464Gly Single submitter
- p.Asp4645Val Single submitter ⚠
- p.Asp4693Glu Single submitter ⚠
- p.Asp4708Asn Single submitter
- p.Asp4776Glu Single submitter ⚠
- p.Asp5101Asn Single submitter ⚠
- p.Cys140Arg Single submitter
- p.Cys1597Tyr Single submitter
- p.Cys2029Trp Single submitter ⚠
- p.Cys2222Tyr Single submitter ⚠
- p.Cys2489Trp Single submitter ⚠
- p.Cys2618Ser Single submitter ⚠
- p.Cys3720Tyr Single submitter
- p.Cys3872Ser Single submitter
- p.Cys4074Gly Single submitter
- p.Cys4430Tyr Single submitter
- p.Gln1132Arg Single submitter
- p.Gln1164Pro Single submitter
- p.Gln1465Glu Single submitter ⚠
- p.Gln1481His Single submitter ⚠
- p.Gln1486His Single submitter ⚠
- p.Gln224Arg Single submitter ⚠
- p.Gln2355Leu Single submitter
- p.Gln2598Glu Single submitter ⚠
- p.Gln3362Arg Single submitter ⚠
- p.Gln3500Ter Single submitter Developmental disorder
- p.Gln3600Leu Single submitter
- p.Gln4057Leu Single submitter ⚠
- p.Gln4689Arg Single submitter ⚠
- p.Gln583Pro Single submitter ⚠
- p.Gln728Glu Single submitter
- p.Gln752His Single submitter ⚠
- p.Glu1114Gly Single submitter ⚠
- p.Glu1231Lys Single submitter
- p.Glu1399Gly Single submitter ⚠
- p.Glu1594Gly Single submitter
- p.Glu2142Val Single submitter ⚠
- p.Glu2201Lys Single submitter
- p.Glu2497Ter Single submitter
- p.Glu2507Gln Single submitter ⚠
- p.Glu3376Gly Single submitter ⚠
- p.Glu3528Lys Single submitter
- p.Glu3656Gly Single submitter
- p.Glu383Lys Single submitter
- p.Glu3982Gly Single submitter UBR4-related disorder
- p.Glu4470Ala Single submitter
- p.Glu4471Val Single submitter ⚠
- p.Glu4636Gln Single submitter ⚠
- p.Glu4868Lys Single submitter
- p.Glu5116Ala Single submitter ⚠
- p.Glu5153Asp Single submitter ⚠
- p.Glu571Asp Single submitter ⚠
- p.Glu604Gln Single submitter ⚠
- p.Glu62Lys Single submitter
- p.Gly1339Cys Single submitter
- p.Gly1529Ser Single submitter ⚠
- p.Gly1533Asp Single submitter
- p.Gly1833Arg Single submitter
- p.Gly2110Ala Single submitter
- p.Gly2372Ser Single submitter ⚠
- p.Gly2413Arg Single submitter
- p.Gly2749Asp Single submitter ⚠
- p.Gly4380Arg Single submitter
- p.Gly4494Arg Single submitter ⚠
- p.Gly499Val Single submitter ⚠
- p.His1037Arg Single submitter ⚠
- p.His1448Arg Single submitter ⚠
- p.His1906Asn Single submitter
- p.His2096Leu Single submitter
- p.His2665Tyr Single submitter
- p.His4503Tyr Single submitter ⚠
- p.His4939Arg Single submitter ⚠
- p.His66Arg Single submitter
- p.Ile1012Ser Single submitter
- p.Ile1012Val Single submitter ⚠
- p.Ile1047Val Single submitter ⚠
- p.Ile1059Thr Single submitter ⚠
- p.Ile1089Val Single submitter ⚠
- p.Ile108Thr Single submitter
- p.Ile1329Met Single submitter ⚠
- p.Ile1337Val Single submitter ⚠
- p.Ile1361Thr Single submitter
- p.Ile1410Val Single submitter ⚠
- p.Ile1630Val Single submitter ⚠
- p.Ile2070Met Single submitter ⚠
- p.Ile2199Thr Single submitter
- p.Ile233Val Single submitter ⚠
- p.Ile2422Val Single submitter ⚠
- p.Ile2495Val Single submitter ⚠
- p.Ile2663Val Single submitter ⚠
- p.Ile2752Asn Single submitter ⚠
- p.Ile3288Val Single submitter ⚠
- p.Ile3566Val Single submitter ⚠
- p.Ile3635Phe Single submitter ⚠
- p.Ile3635Val Single submitter ⚠
- p.Ile3642Thr Single submitter ⚠
- p.Ile377Val Single submitter ⚠
- p.Ile3817Ser Single submitter
- p.Ile3884Val Single submitter ⚠
- p.Ile3979Val Single submitter ⚠
- p.Ile421Val Single submitter ⚠
- p.Ile4379Val Single submitter ⚠
- p.Ile4568Asn Single submitter
- p.Ile4760Val Single submitter
- p.Ile5127Phe Single submitter ⚠
- p.Ile5134Val Single submitter ⚠
- p.Ile599Phe Single submitter ⚠
- p.Ile658Thr Single submitter
- p.Ile836Thr Single submitter ⚠
- p.Leu1218Met Single submitter ⚠
- p.Leu1288Phe Single submitter
- p.Leu2141Val Single submitter ⚠
- p.Leu2144Met Single submitter ⚠
- p.Leu247Ile Single submitter ⚠
- p.Leu2532Val Single submitter ⚠
- p.Leu2614Ser Single submitter ⚠
- p.Leu2672Pro Single submitter
- p.Leu2804Pro Single submitter
- p.Leu2836Pro Single submitter
- p.Leu2981Phe Single submitter ⚠
- p.Leu310Ser Single submitter
- p.Leu3327Val Single submitter ⚠
- p.Leu3988Pro Single submitter ⚠
- p.Leu415Val Single submitter ⚠
- p.Leu4212Val Single submitter
- p.Leu4544Val Single submitter ⚠
- p.Leu4807Gln Single submitter
- p.Leu4998Phe Single submitter
- p.Leu5102Val Single submitter ⚠
- p.Leu5142Val Single submitter ⚠
- p.Leu698Arg Single submitter ⚠
- p.Leu907Phe Single submitter ⚠
- p.Leu960Pro Single submitter ⚠
- p.Leu999Phe Single submitter
- p.Lys1064Arg Single submitter ⚠
- p.Lys1353Arg Single submitter ⚠
- p.Lys2152Arg Single submitter ⚠
- p.Lys2267fs Single submitter
- p.Lys2273Arg Single submitter ⚠
- p.Lys4085Glu Single submitter ⚠
- p.Lys4387Arg Single submitter
- p.Lys4703Arg Single submitter ⚠
- p.Lys482Arg Single submitter ⚠
- p.Lys912Glu Single submitter
- p.Lys920Gln Single submitter
- p.Lys989Gln Single submitter ⚠
- p.Met1025Ile Single submitter ⚠
- p.Met1305Lys Single submitter ⚠
- p.Met1854Val Single submitter ⚠