CELSR3 — 509 ClinVar variants
All ClinVar germline CELSR3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 299 flagged for review →
13 Likely pathogenic · 4 Conflicting · 23 Benign · 1 Benign/Likely benign · 53 Likely benign · 415 Uncertain significance
Full CELSR3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 299
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 9
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
- CELSR3 p.Ala2102Thr Likely pathogenic No assertion criteria
-
CELSR3 p.Arg1048Trp
Likely pathogenic
No assertion criteria
congenital anomalies of kidney and urinary tract 1
- CELSR3 p.Arg525His Likely pathogenic No assertion criteria
-
CELSR3 p.Glu1034Gln
Likely pathogenic
No assertion criteria
congenital anomalies of kidney and urinary tract 1
- CELSR3 p.Glu2501Lys Likely pathogenic No assertion criteria
- CELSR3 p.Gly2667Ser Likely pathogenic No assertion criteria
- CELSR3 p.Gly3100Ala Likely pathogenic No assertion criteria
- CELSR3 p.His1687Tyr Likely pathogenic No assertion criteria
- CELSR3 p.Pro2359Ser Likely pathogenic No assertion criteria
Predictors agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 270
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 270
- CELSR3 p.Ala2862Val Uncertain significance Multiple submitters
- CELSR3 p.Arg2345His Uncertain significance Multiple submitters
-
CELSR3 p.Phe282Ser
Uncertain significance
Multiple submitters
CELSR3-related disorder
- CELSR3 p.Ala1069Pro Uncertain significance Single submitter
- CELSR3 p.Ala1362Thr Uncertain significance Single submitter
- CELSR3 p.Ala1400Ser Uncertain significance Single submitter
- CELSR3 p.Ala1449Val Uncertain significance Single submitter
- CELSR3 p.Ala1571Thr Uncertain significance Single submitter
- CELSR3 p.Ala2205Val Uncertain significance Single submitter
- CELSR3 p.Ala2279Val Uncertain significance Single submitter
- CELSR3 p.Ala2292Glu Uncertain significance Single submitter
- CELSR3 p.Ala2292Val Uncertain significance Single submitter
- CELSR3 p.Ala238Ser Uncertain significance Single submitter
- CELSR3 p.Ala2552Val Uncertain significance Single submitter
- CELSR3 p.Ala257Thr Uncertain significance Single submitter
- CELSR3 p.Ala2618Thr Uncertain significance Single submitter
- CELSR3 p.Ala2641Thr Uncertain significance Single submitter
- CELSR3 p.Ala2757Val Uncertain significance Single submitter
- CELSR3 p.Ala2806Ser Uncertain significance Single submitter
- CELSR3 p.Ala2825Thr Uncertain significance Single submitter
- CELSR3 p.Ala2931Asp Uncertain significance Single submitter
- CELSR3 p.Ala3088Thr Uncertain significance Single submitter
- CELSR3 p.Ala3148Val Uncertain significance Single submitter
- CELSR3 p.Ala3216Asp Uncertain significance Single submitter
- CELSR3 p.Ala340Glu Uncertain significance Single submitter
- CELSR3 p.Ala354Val Uncertain significance Single submitter
- CELSR3 p.Ala415Val Uncertain significance Single submitter
- CELSR3 p.Ala478Gly Uncertain significance Single submitter
- CELSR3 p.Ala484Thr Uncertain significance Single submitter
- CELSR3 p.Ala542Ser Uncertain significance Single submitter
- CELSR3 p.Ala54Ser Uncertain significance Single submitter
- CELSR3 p.Ala704Thr Uncertain significance Single submitter
- CELSR3 p.Ala974Ser Uncertain significance Single submitter
- CELSR3 p.Ala990Ser Uncertain significance Single submitter
- CELSR3 p.Arg1024Gln Uncertain significance Single submitter
- CELSR3 p.Arg1075Gln Uncertain significance Single submitter
- CELSR3 p.Arg1135Cys Uncertain significance Single submitter
- CELSR3 p.Arg1135His Uncertain significance Single submitter
- CELSR3 p.Arg1183Cys Uncertain significance Single submitter
- CELSR3 p.Arg1212His Uncertain significance Single submitter
- CELSR3 p.Arg1336His Uncertain significance Single submitter
- CELSR3 p.Arg1381Gly Uncertain significance Single submitter
- CELSR3 p.Arg1422Cys Uncertain significance Single submitter
- CELSR3 p.Arg1478Ser Uncertain significance Single submitter
- CELSR3 p.Arg1703Gln Uncertain significance Single submitter
- CELSR3 p.Arg1819Gln Uncertain significance Single submitter
- CELSR3 p.Arg1832His Uncertain significance Single submitter
- CELSR3 p.Arg1847Gln Uncertain significance Single submitter
- CELSR3 p.Arg1862Gln Uncertain significance Single submitter
- CELSR3 p.Arg1863Leu Uncertain significance Single submitter
- CELSR3 p.Arg1962Gln Uncertain significance Single submitter
- CELSR3 p.Arg196Cys Uncertain significance Single submitter
- CELSR3 p.Arg196His Uncertain significance Single submitter
- CELSR3 p.Arg2067Gln Uncertain significance Single submitter
- CELSR3 p.Arg2123Gln Uncertain significance Single submitter
- CELSR3 p.Arg2123Trp Uncertain significance Single submitter
- CELSR3 p.Arg2154Trp Uncertain significance Single submitter
- CELSR3 p.Arg2162Gln Uncertain significance Single submitter
- CELSR3 p.Arg2232His Uncertain significance Single submitter
- CELSR3 p.Arg2283Gln Uncertain significance Single submitter
- CELSR3 p.Arg2307Ser Uncertain significance Single submitter
- CELSR3 p.Arg231Gln Uncertain significance Single submitter
- CELSR3 p.Arg2330His Uncertain significance Single submitter
- CELSR3 p.Arg2338Gly Uncertain significance Single submitter
- CELSR3 p.Arg2338Trp Uncertain significance Single submitter
- CELSR3 p.Arg2342Cys Uncertain significance Single submitter
- CELSR3 p.Arg2468His Uncertain significance Single submitter
- CELSR3 p.Arg2511Gln Uncertain significance Single submitter
- CELSR3 p.Arg2513His Uncertain significance Single submitter
- CELSR3 p.Arg2572His Uncertain significance Single submitter
- CELSR3 p.Arg2629Cys Uncertain significance Single submitter
- CELSR3 p.Arg2639Cys Uncertain significance Single submitter
- CELSR3 p.Arg2639His Uncertain significance Single submitter
- CELSR3 p.Arg2725His Uncertain significance Single submitter
- CELSR3 p.Arg275Cys Uncertain significance Single submitter
- CELSR3 p.Arg277Leu Uncertain significance Single submitter
- CELSR3 p.Arg279Trp Uncertain significance Single submitter
- CELSR3 p.Arg2848Cys Uncertain significance Single submitter
- CELSR3 p.Arg2848His Uncertain significance Single submitter
- CELSR3 p.Arg2858Gln Uncertain significance Single submitter
- CELSR3 p.Arg2918Gln Uncertain significance Single submitter
- CELSR3 p.Arg3002Gln Uncertain significance Single submitter
- CELSR3 p.Arg3005His Uncertain significance Single submitter
- CELSR3 p.Arg3082His Uncertain significance Single submitter
- CELSR3 p.Arg3084Gly Uncertain significance Single submitter
- CELSR3 p.Arg3137Cys Uncertain significance Single submitter
- CELSR3 p.Arg3137His Uncertain significance Single submitter
- CELSR3 p.Arg3161His Uncertain significance Single submitter
- CELSR3 p.Arg3163Gln Uncertain significance Single submitter
- CELSR3 p.Arg3163Trp Uncertain significance Single submitter
- CELSR3 p.Arg3210Gln Uncertain significance Single submitter
- CELSR3 p.Arg3214Gln Uncertain significance Single submitter
- CELSR3 p.Arg386Leu Uncertain significance Single submitter
- CELSR3 p.Arg555Leu Uncertain significance Single submitter
- CELSR3 p.Arg572Trp Uncertain significance Single submitter
- CELSR3 p.Arg590His Uncertain significance Single submitter
- CELSR3 p.Arg627Gln Uncertain significance Single submitter
- CELSR3 p.Arg729Gln Uncertain significance Single submitter
- CELSR3 p.Arg753Gln Uncertain significance Single submitter
- CELSR3 p.Arg905His Uncertain significance Single submitter
- CELSR3 p.Arg934Trp Uncertain significance Single submitter
- CELSR3 p.Asn106Lys Uncertain significance Single submitter
- CELSR3 p.Asn1776Ser Uncertain significance Single submitter
- CELSR3 p.Asn2258Ser Uncertain significance Single submitter
- CELSR3 p.Asn632Ser Uncertain significance Single submitter
- CELSR3 p.Asn633Ser Uncertain significance Single submitter
- CELSR3 p.Asn97Asp Uncertain significance Single submitter
- CELSR3 p.Asp1370Asn Uncertain significance Single submitter
- CELSR3 p.Asp1625Glu Uncertain significance Single submitter
- CELSR3 p.Asp2174Asn Uncertain significance Single submitter
- CELSR3 p.Asp246Tyr Uncertain significance Single submitter
- CELSR3 p.Asp2843His Uncertain significance Single submitter
- CELSR3 p.Asp3145Asn Uncertain significance Single submitter
- CELSR3 p.Asp646Asn Uncertain significance Single submitter
- CELSR3 p.Asp820Tyr Uncertain significance Single submitter
-
CELSR3 p.Cys1502Tyr
Uncertain significance
Single submitter
CELSR3-related disorder
- CELSR3 p.Cys1731Ser Uncertain significance Single submitter
- CELSR3 p.Cys205Ser Uncertain significance Single submitter
- CELSR3 p.Gln1910Lys Uncertain significance Single submitter
- CELSR3 p.Gln1993Glu Uncertain significance Single submitter
- CELSR3 p.Gln2713Lys Uncertain significance Single submitter
- CELSR3 p.Gln3242Glu Uncertain significance Single submitter
- CELSR3 p.Gln93His Uncertain significance Single submitter
- CELSR3 p.Glu1034Asp Uncertain significance Single submitter
- CELSR3 p.Glu1108Asp Uncertain significance Single submitter
- CELSR3 p.Glu2466Asp Uncertain significance Single submitter
- CELSR3 p.Glu264Val Uncertain significance Single submitter
- CELSR3 p.Glu2666Gln Uncertain significance Single submitter
- CELSR3 p.Glu2715Asp Uncertain significance Single submitter
- CELSR3 p.Glu2794Lys Uncertain significance Single submitter
- CELSR3 p.Glu2959Lys Uncertain significance Single submitter
- CELSR3 p.Glu303Asp Uncertain significance Single submitter
- CELSR3 p.Glu3083Gly Uncertain significance Single submitter
- CELSR3 p.Glu32Gln Uncertain significance Single submitter
- CELSR3 p.Glu760Lys Uncertain significance Single submitter
- CELSR3 p.Gly128Arg Uncertain significance Single submitter
- CELSR3 p.Gly1322Ala Uncertain significance Single submitter
- CELSR3 p.Gly1322Arg Uncertain significance Single submitter
- CELSR3 p.Gly1339Arg Uncertain significance Single submitter
- CELSR3 p.Gly146Glu Uncertain significance Single submitter
- CELSR3 p.Gly1618Asp Uncertain significance Single submitter
- CELSR3 p.Gly192Glu Uncertain significance Single submitter
- CELSR3 p.Gly1953Ala Uncertain significance Single submitter
- CELSR3 p.Gly1980Asp Uncertain significance Single submitter
- CELSR3 p.Gly2012Asp Uncertain significance Single submitter
- CELSR3 p.Gly2145Cys Uncertain significance Single submitter
- CELSR3 p.Gly2265Ser Uncertain significance Single submitter
- CELSR3 p.Gly2286Ala Uncertain significance Single submitter
- CELSR3 p.Gly2339Val Uncertain significance Single submitter
- CELSR3 p.Gly2507Glu Uncertain significance Single submitter
Predictors split 18
The independent predictors disagree with each other — read with care.
- CELSR3 p.Ser860Arg Benign Multiple submitters
- CELSR3 p.Arg995Trp Uncertain significance Single submitter
- CELSR3 p.Glu1468Gly Uncertain significance Single submitter
- CELSR3 p.Gly1323Asp Uncertain significance Single submitter
- CELSR3 p.Gly1769Asp Uncertain significance Single submitter
- CELSR3 p.Leu1987Arg Uncertain significance Single submitter
- CELSR3 p.Leu2564Pro Uncertain significance Single submitter
- CELSR3 p.Lys2980Asn Uncertain significance Single submitter
- CELSR3 p.Phe723Leu Uncertain significance Single submitter
- CELSR3 p.Pro1956Ser Uncertain significance Single submitter
- CELSR3 p.Pro2028Ser Uncertain significance Single submitter
- CELSR3 p.Ser1540Cys Uncertain significance Single submitter
- CELSR3 p.Ser1579Ala Uncertain significance Single submitter
- CELSR3 p.Ser2086Leu Uncertain significance Single submitter
- CELSR3 p.Thr1466Pro Uncertain significance Single submitter
- CELSR3 p.Trp3031Gly Uncertain significance Single submitter
- CELSR3 p.Val1632Met Uncertain significance Single submitter
- CELSR3 p.Val604Met Uncertain significance Single submitter
All CELSR3 variants
Likely pathogenic 13
- p.Ala2102Thr No assertion criteria ⚠
- p.Arg1048Trp No assertion criteria congenital anomalies of kidney and urinary tract 1 ⚠
- p.Arg1238Cys No assertion criteria
- p.Arg2475Trp No assertion criteria
- p.Arg525His No assertion criteria ⚠
- p.Glu1034Gln No assertion criteria congenital anomalies of kidney and urinary tract 1 ⚠
- p.Glu2501Lys No assertion criteria ⚠
- p.Gly2667Ser No assertion criteria ⚠
- p.Gly3100Ala No assertion criteria ⚠
- p.His1687Tyr No assertion criteria ⚠
- p.Pro2359Ser No assertion criteria ⚠
- p.Thr2827Asn No assertion criteria
- p.Val2320Ala No assertion criteria
Conflicting classifications of pathogenicity 4
- p.Ala1959Thr Single submitter bladder exstrophy-epispadias-cloacal exstrophy complex
- p.Arg2099Cys Single submitter
- p.Arg3065Cys Single submitter ⚠
- p.Gly45Ser Single submitter ⚠
Benign 23
- p.Arg3201Gln Multiple submitters
- p.Asp3302His Multiple submitters
- p.Asp886= Multiple submitters
- p.Gly128Val Multiple submitters
- p.Gly2824= Multiple submitters
- p.Met2630Ile Multiple submitters
- p.Pro3276Leu Multiple submitters
- p.Ser805Thr Multiple submitters Tourette syndrome
- p.Ser860Arg Multiple submitters ⚠
- p.Val2652Ile Multiple submitters
- p.Arg1158Leu Single submitter
- p.Arg3033His Single submitter bladder exstrophy-epispadias-cloacal exstrophy complex
- p.Arg3077Gln Single submitter
- p.Arg3189Gln Single submitter bladder exstrophy-epispadias-cloacal exstrophy complex
- p.Gly2451Arg Single submitter
- p.Lys1624Glu Single submitter
- p.Thr654Met Single submitter
- p.Val2438Ile Single submitter
- c.4626-9C>A No assertion criteria CELSR3-related disorder
- p.Ala3041= No assertion criteria CELSR3-related disorder
- p.Arg312= No assertion criteria CELSR3-related disorder
- p.Asp2009= No assertion criteria CELSR3-related disorder
- p.Pro2990Arg No assertion criteria CELSR3-related disorder
Benign/Likely benign 1
- p.Gln1353= Multiple submitters
Likely benign 53
- p.His3294= Multiple submitters
- p.Leu2465= Multiple submitters
- c.4399+1G>C Single submitter autism spectrum disorder
- p.Ala1940Val Single submitter
- p.Arg1135= Single submitter
- p.Arg1294His Single submitter
- p.Arg1937Gln Single submitter
- p.Arg2452His Single submitter
- p.Arg2886= Single submitter
- p.Arg3084= Single submitter
- p.Arg3094His Single submitter
- p.Arg3161Cys Single submitter
- p.Asn1770= Single submitter
- p.Gly1903Ser Single submitter
- p.Gly3053= Single submitter
- p.Met873Val Single submitter
- p.Phe2621Leu Single submitter
- p.Pro1989= Single submitter
- p.Pro380Ser Single submitter
- p.Ser1738Leu Single submitter
- p.Thr3292Met Single submitter
- p.Thr999= Single submitter
- p.Tyr438= Single submitter
- p.Val1824Met Single submitter
- p.Val2146Ile Single submitter
- p.Val2494Met Single submitter
- p.Val3231Ala Single submitter
- c.7464-9T>C No assertion criteria CELSR3-related disorder
- c.8086-5T>G No assertion criteria CELSR3-related disorder
- c.8165+7T>C No assertion criteria CELSR3-related disorder
- c.9912-8G>A No assertion criteria CELSR3-related disorder
- c.*9C>T No assertion criteria CELSR3-related disorder
- p.Ala1304= No assertion criteria CELSR3-related disorder
- p.Ala2576= No assertion criteria CELSR3-related disorder
- p.Ala2618= No assertion criteria CELSR3-related disorder
- p.Ala2792Val No assertion criteria CELSR3-related disorder
- p.Ala3133Thr No assertion criteria CELSR3-related disorder
- p.Arg2920Trp No assertion criteria
- p.Arg3150Gln No assertion criteria CELSR3-related disorder
- p.Arg3160Cys No assertion criteria CELSR3-related disorder
- p.Arg753Trp No assertion criteria CELSR3-related disorder
- p.Asn1281= No assertion criteria CELSR3-related disorder
- p.Cys1423= No assertion criteria CELSR3-related disorder
- p.Gly2293= No assertion criteria CELSR3-related disorder
- p.Phe2114= No assertion criteria CELSR3-related disorder
- p.Phe2612= No assertion criteria CELSR3-related disorder
- p.Pro1345Leu No assertion criteria
- p.Pro1425= No assertion criteria CELSR3-related disorder
- p.Pro170Leu No assertion criteria CELSR3-related disorder
- p.Pro2990= No assertion criteria CELSR3-related disorder
- p.Thr1125= No assertion criteria CELSR3-related disorder
- p.Tyr550= No assertion criteria CELSR3-related disorder
- p.Tyr826= No assertion criteria CELSR3-related disorder
Uncertain significance 415
Showing the top 300 by review status; the full set is in the sitemap.
- p.Ala2862Val Multiple submitters ⚠
- p.Arg2345His Multiple submitters ⚠
- p.Phe282Ser Multiple submitters CELSR3-related disorder ⚠
- c.5634+1G>T Single submitter Tourette syndrome
- p.Ala1037Val Single submitter
- p.Ala1069Pro Single submitter ⚠
- p.Ala1334Asp Single submitter
- p.Ala1362Thr Single submitter ⚠
- p.Ala1400Ser Single submitter ⚠
- p.Ala1449Val Single submitter ⚠
- p.Ala1571Thr Single submitter ⚠
- p.Ala1707Glu Single submitter
- p.Ala2205Val Single submitter ⚠
- p.Ala2279Val Single submitter ⚠
- p.Ala2292Glu Single submitter ⚠
- p.Ala2292Val Single submitter ⚠
- p.Ala238Ser Single submitter ⚠
- p.Ala2552Val Single submitter ⚠
- p.Ala257Thr Single submitter ⚠
- p.Ala2618Thr Single submitter ⚠
- p.Ala2641Thr Single submitter ⚠
- p.Ala2757Val Single submitter ⚠
- p.Ala2806Ser Single submitter ⚠
- p.Ala2825Thr Single submitter ⚠
- p.Ala2931Asp Single submitter ⚠
- p.Ala3088Thr Single submitter ⚠
- p.Ala3148Val Single submitter ⚠
- p.Ala3216Asp Single submitter ⚠
- p.Ala340Glu Single submitter ⚠
- p.Ala354Val Single submitter ⚠
- p.Ala3Thr Single submitter
- p.Ala405Thr Single submitter
- p.Ala415Val Single submitter ⚠
- p.Ala478Gly Single submitter ⚠
- p.Ala484Thr Single submitter ⚠
- p.Ala542Ser Single submitter ⚠
- p.Ala54Ser Single submitter ⚠
- p.Ala704Thr Single submitter ⚠
- p.Ala740Asp Single submitter
- p.Ala788Val Single submitter
- p.Ala974Ser Single submitter ⚠
- p.Ala990Ser Single submitter ⚠
- p.Arg1020Cys Single submitter
- p.Arg1020His Single submitter
- p.Arg1024Gln Single submitter ⚠
- p.Arg1042Ser Single submitter
- p.Arg1075Gln Single submitter ⚠
- p.Arg1135Cys Single submitter ⚠
- p.Arg1135His Single submitter ⚠
- p.Arg1183Cys Single submitter ⚠
- p.Arg1212His Single submitter ⚠
- p.Arg1286Cys Single submitter
- p.Arg1336His Single submitter ⚠
- p.Arg1381Gly Single submitter ⚠
- p.Arg1395Ser Single submitter
- p.Arg1422Cys Single submitter ⚠
- p.Arg1478Ser Single submitter ⚠
- p.Arg1499Ser Single submitter
- p.Arg1612Gly Single submitter
- p.Arg1702His Single submitter
- p.Arg1703Gln Single submitter ⚠
- p.Arg1819Gln Single submitter ⚠
- p.Arg1832His Single submitter ⚠
- p.Arg1847Gln Single submitter ⚠
- p.Arg1847Trp Single submitter
- p.Arg1862Gln Single submitter ⚠
- p.Arg1863Leu Single submitter ⚠
- p.Arg1962Gln Single submitter ⚠
- p.Arg196Cys Single submitter ⚠
- p.Arg196His Single submitter ⚠
- p.Arg1997Gln Single submitter
- p.Arg2029Gln Single submitter
- p.Arg2067Gln Single submitter ⚠
- p.Arg2099His Single submitter
- p.Arg2105His Single submitter
- p.Arg2123Gln Single submitter ⚠
- p.Arg2123Trp Single submitter ⚠
- p.Arg2154Trp Single submitter ⚠
- p.Arg2162Gln Single submitter ⚠
- p.Arg2232His Single submitter ⚠
- p.Arg2283Gln Single submitter ⚠
- p.Arg2307Ser Single submitter ⚠
- p.Arg231Gln Single submitter ⚠
- p.Arg2330His Single submitter ⚠
- p.Arg2338Gly Single submitter ⚠
- p.Arg2338Trp Single submitter ⚠
- p.Arg2342Cys Single submitter ⚠
- p.Arg2468His Single submitter ⚠
- p.Arg2498Gln Single submitter
- p.Arg2505Gly Single submitter
- p.Arg2511Gln Single submitter ⚠
- p.Arg2513His Single submitter ⚠
- p.Arg2572His Single submitter ⚠
- p.Arg2629Cys Single submitter ⚠
- p.Arg2629His Single submitter
- p.Arg2635His Single submitter
- p.Arg2639Cys Single submitter ⚠
- p.Arg2639His Single submitter ⚠
- p.Arg2643His Single submitter
- p.Arg2725His Single submitter ⚠
- p.Arg275Cys Single submitter ⚠
- p.Arg277Leu Single submitter ⚠
- p.Arg2789Gly Single submitter
- p.Arg279Trp Single submitter ⚠
- p.Arg2846Trp Single submitter
- p.Arg2848Cys Single submitter ⚠
- p.Arg2848His Single submitter ⚠
- p.Arg2858Gln Single submitter ⚠
- p.Arg2858Leu Single submitter
- p.Arg285Cys Single submitter
- p.Arg2886Pro Single submitter
- p.Arg2918Gln Single submitter ⚠
- p.Arg2918Trp Single submitter
- p.Arg3002Gln Single submitter ⚠
- p.Arg3005His Single submitter ⚠
- p.Arg3014Gln Single submitter
- p.Arg3014Trp Single submitter
- p.Arg3024Gly Single submitter
- p.Arg3033Cys Single submitter
- p.Arg3040Cys Single submitter
- p.Arg3040His Single submitter
- p.Arg3049Cys Single submitter
- p.Arg3065His Single submitter
- p.Arg3065Ser Single submitter
- p.Arg3082Cys Single submitter
- p.Arg3082His Single submitter ⚠
- p.Arg3084Gly Single submitter ⚠
- p.Arg3128Trp Single submitter
- p.Arg3137Cys Single submitter ⚠
- p.Arg3137His Single submitter ⚠
- p.Arg3161His Single submitter ⚠
- p.Arg3163Gln Single submitter ⚠
- p.Arg3163Trp Single submitter ⚠
- p.Arg3210Gln Single submitter ⚠
- p.Arg3214Gln Single submitter ⚠
- p.Arg321Cys Single submitter
- p.Arg386Leu Single submitter ⚠
- p.Arg456His Single submitter
- p.Arg471Cys Single submitter
- p.Arg491His Single submitter
- p.Arg491Pro Single submitter
- p.Arg555Leu Single submitter ⚠
- p.Arg572Trp Single submitter ⚠
- p.Arg590His Single submitter ⚠
- p.Arg627Gln Single submitter ⚠
- p.Arg729Gln Single submitter ⚠
- p.Arg753Gln Single submitter ⚠
- p.Arg783Leu Single submitter
- p.Arg801Cys Single submitter
- p.Arg905His Single submitter ⚠
- p.Arg934Trp Single submitter ⚠
- p.Arg988Trp Single submitter
- p.Arg995Gln Single submitter
- p.Arg995Trp Single submitter ⚠
- p.Asn106Lys Single submitter ⚠
- p.Asn1099Ser Single submitter
- p.Asn1649Ser Single submitter
- p.Asn1776Ser Single submitter ⚠
- p.Asn2177Ser Single submitter
- p.Asn2258Ser Single submitter ⚠
- p.Asn2746His Single submitter
- p.Asn2946Ser Single submitter
- p.Asn467Lys Single submitter
- p.Asn632Ser Single submitter ⚠
- p.Asn633Ser Single submitter ⚠
- p.Asn847Ser Single submitter
- p.Asn97Asp Single submitter ⚠
- p.Asp1129Ala Single submitter
- p.Asp1370Asn Single submitter ⚠
- p.Asp1625Glu Single submitter ⚠
- p.Asp2049Asn Single submitter
- p.Asp2174Asn Single submitter ⚠
- p.Asp246Tyr Single submitter ⚠
- p.Asp2843His Single submitter ⚠
- p.Asp2915His Single submitter
- p.Asp3145Asn Single submitter ⚠
- p.Asp3183Tyr Single submitter
- p.Asp646Asn Single submitter ⚠
- p.Asp696Val Single submitter
- p.Asp820Tyr Single submitter ⚠
- p.Cys1502Tyr Single submitter CELSR3-related disorder ⚠
- p.Cys1731Ser Single submitter ⚠
- p.Cys205Ser Single submitter ⚠
- p.Gln1001Arg Single submitter
- p.Gln1910Lys Single submitter ⚠
- p.Gln1993Glu Single submitter ⚠
- p.Gln2713Lys Single submitter ⚠
- p.Gln3242Glu Single submitter ⚠
- p.Gln93His Single submitter ⚠
- p.Glu1034Asp Single submitter ⚠
- p.Glu1108Asp Single submitter ⚠
- p.Glu1468Gly Single submitter ⚠
- p.Glu1514Asp Single submitter
- p.Glu1854Asp Single submitter
- p.Glu2466Asp Single submitter ⚠
- p.Glu2537Lys Single submitter
- p.Glu264Val Single submitter ⚠
- p.Glu2666Gln Single submitter ⚠
- p.Glu2715Asp Single submitter ⚠
- p.Glu2794Lys Single submitter ⚠
- p.Glu2795Lys Single submitter
- p.Glu2912Gly Single submitter
- p.Glu2914Lys Single submitter
- p.Glu2959Lys Single submitter ⚠
- p.Glu303Asp Single submitter ⚠
- p.Glu3083Gly Single submitter ⚠
- p.Glu32Gln Single submitter ⚠
- p.Glu615Lys Single submitter
- p.Glu760Lys Single submitter ⚠
- p.Gly128Arg Single submitter ⚠
- p.Gly1322Ala Single submitter ⚠
- p.Gly1322Arg Single submitter ⚠
- p.Gly1323Asp Single submitter ⚠
- p.Gly1339Arg Single submitter ⚠
- p.Gly146Glu Single submitter ⚠
- p.Gly1618Asp Single submitter ⚠
- p.Gly1701Asp Single submitter
- p.Gly1753Ser Single submitter
- p.Gly1769Asp Single submitter ⚠
- p.Gly192Glu Single submitter ⚠
- p.Gly1953Ala Single submitter ⚠
- p.Gly1980Asp Single submitter ⚠
- p.Gly2012Asp Single submitter ⚠
- p.Gly2145Cys Single submitter ⚠
- p.Gly2265Ser Single submitter ⚠
- p.Gly2286Ala Single submitter ⚠
- p.Gly2339Val Single submitter ⚠
- p.Gly2507Glu Single submitter ⚠
- p.Gly2803Ala Single submitter ⚠
- p.Gly280Asp Single submitter ⚠
- p.Gly2824Ala Single submitter
- p.Gly297Glu Single submitter ⚠
- p.Gly36Ala Single submitter ⚠
- p.Gly75Arg Single submitter ⚠
- p.Gly77Asp Single submitter ⚠
- p.Gly795Ser Single submitter ⚠
- p.Gly808Val Single submitter
- p.His1835Arg Single submitter ⚠
- p.His2221Arg Single submitter ⚠
- p.His2333Tyr Single submitter ⚠
- p.His2347Arg Single submitter
- p.His2544Tyr Single submitter ⚠
- p.His2859Tyr Single submitter ⚠
- p.His2865Arg Single submitter ⚠
- p.His2885Leu Single submitter
- p.His532Asn Single submitter ⚠
- p.His672Arg Single submitter
- p.Ile1012Val Single submitter ⚠
- p.Ile111Thr Single submitter ⚠
- p.Ile1191Val Single submitter ⚠
- p.Ile1266Leu Single submitter
- p.Ile1691Phe Single submitter
- p.Ile1699Val Single submitter
- p.Ile18Val Single submitter ⚠
- p.Ile2821Val Single submitter
- p.Ile378Val Single submitter ⚠
- p.Ile533Val Single submitter ⚠
- p.Ile913Met Single submitter
- p.Leu1149Phe Single submitter
- p.Leu1630Pro Single submitter ⚠
- p.Leu1791Pro Single submitter ⚠
- p.Leu1895Phe Single submitter
- p.Leu1931Pro Single submitter
- p.Leu1932Pro Single submitter ⚠
- p.Leu1987Arg Single submitter ⚠
- p.Leu2564Pro Single submitter ⚠
- p.Leu2750Arg Single submitter
- p.Leu2812Phe Single submitter
- p.Leu2812Pro Single submitter ⚠
- p.Leu287Phe Single submitter ⚠
- p.Leu3019Val Single submitter ⚠
- p.Leu3186Met Single submitter ⚠
- p.Leu442Ile Single submitter ⚠
- p.Leu598Val Single submitter ⚠
- p.Lys274Arg Single submitter ⚠
- p.Lys2980Asn Single submitter ⚠
- p.Lys828Asn Single submitter ⚠
- p.Met1527Val Single submitter
- p.Met2203Thr Single submitter ⚠
- p.Met2524Val Single submitter ⚠
- p.Met3134Lys Single submitter ⚠
- p.Met873Leu Single submitter ⚠
- p.Phe1207Leu Single submitter ⚠
- p.Phe1465Leu Single submitter ⚠
- p.Phe1498Leu Single submitter ⚠
- p.Phe2183Ser Single submitter ⚠
- p.Phe282Leu Single submitter ⚠
- p.Phe315Leu Single submitter ⚠
- p.Phe723Leu Single submitter ⚠
- p.Pro101Thr Single submitter ⚠
- p.Pro1306Leu Single submitter
- p.Pro1415Ala Single submitter
- p.Pro17Ser Single submitter ⚠
- p.Pro1956Ser Single submitter ⚠
- p.Pro2000Leu Single submitter
- p.Pro2028Ser Single submitter ⚠
- p.Pro2050Ala Single submitter
- p.Pro2334Leu Single submitter ⚠
- p.Pro2366Leu Single submitter ⚠
- p.Pro2370Ser Single submitter ⚠