ADGRG4 — 390 ClinVar variants

All ClinVar germline ADGRG4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 320 flagged for review →

4 Conflicting · 2 Benign · 49 Likely benign · 335 Uncertain significance

Full ADGRG4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 320

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 3

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 309

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 309

Predictors split 8

The independent predictors disagree with each other — read with care.

All ADGRG4 variants

Conflicting classifications of pathogenicity 4

p.Arg2994Trp Single submitter
p.Asn652Ser Single submitter ⚠
p.Glu975Lys Single submitter ⚠
p.Ile655Val Single submitter ⚠

Benign 2

c.6822+18A>G Multiple submitters
p.Ser1423= Single submitter

Likely benign 49

p.Ala1156Val Single submitter
p.Ala2786= Single submitter
p.Ala698Thr Single submitter
p.Arg1086His Single submitter
p.Arg1289Gln Single submitter
p.Arg2070Gln Single submitter
p.Asn2519Ser Single submitter
p.Cys1547Ser Single submitter
p.Gln2366= Single submitter
p.Glu1395Lys Single submitter
p.Gly1290Ser Single submitter
p.Gly1477Ser Single submitter
p.Gly1950Arg Single submitter
p.Gly3004= Single submitter
p.His1913Tyr Single submitter
p.His2583= Single submitter
p.His265Tyr Single submitter
p.His4Arg Single submitter
p.His618= Single submitter
p.Ile122Val Single submitter
p.Ile2169Val Single submitter
p.Leu674= Single submitter
p.Leu897= Single submitter
p.Lys499Glu Single submitter
p.Met1430Val Single submitter
p.Met2047Thr Single submitter
p.Pro1753Ser Single submitter
p.Pro1854Leu Single submitter
p.Pro2020Leu Single submitter
p.Pro709Thr Single submitter
p.Ser2049Pro Single submitter
p.Thr1165= Single submitter
p.Thr1165Met Single submitter
p.Thr146Met Single submitter
p.Thr1996Ile Single submitter
p.Thr2041= Single submitter
p.Thr2130Ser Single submitter
p.Thr988Met Single submitter
p.Val1971Ile Single submitter
p.Val2520Ile Single submitter
p.Val2923Met Single submitter
p.Val384Ile Single submitter
p.Val916Met Single submitter
c.686-3dup No assertion criteria ADGRG4-related disorder
p.Gly1867Glu No assertion criteria ADGRG4-related disorder
p.Ser1233Pro No assertion criteria ADGRG4-related disorder
p.Ser253Tyr No assertion criteria ADGRG4-related disorder
p.Ser44Arg No assertion criteria ADGRG4-related disorder
p.Thr2407= No assertion criteria ADGRG4-related disorder

Uncertain significance 335

Showing the top 300 by review status; the full set is in the sitemap.

p.Leu187Phe Multiple submitters
p.Ala1102Thr Single submitter ⚠
p.Ala115Val Single submitter ⚠
p.Ala1369Pro Single submitter ⚠
p.Ala1575Val Single submitter ⚠
p.Ala1618Val Single submitter ⚠
p.Ala1665Ser Single submitter ⚠
p.Ala1811Val Single submitter ⚠
p.Ala2232Pro Single submitter ⚠
p.Ala2232Val Single submitter ⚠
p.Ala2644Val Single submitter ⚠
p.Ala2786Thr Single submitter ⚠
p.Ala2956Thr Single submitter
p.Ala442Asp Single submitter ⚠
p.Ala501Pro Single submitter ⚠
p.Ala519Pro Single submitter ⚠
p.Ala57Ser Single submitter ⚠
p.Ala591Thr Single submitter ⚠
p.Ala633Thr Single submitter ⚠
p.Ala685Val Single submitter ⚠
p.Ala698Ser Single submitter ⚠
p.Ala698Val Single submitter ⚠
p.Ala844Val Single submitter ⚠
p.Ala93Ser Single submitter ⚠
p.Ala93Thr Single submitter ⚠
p.Arg111Cys Single submitter ⚠
p.Arg1238Cys Single submitter ⚠
p.Arg1584Ile Single submitter ⚠
p.Arg1584Lys Single submitter ⚠
p.Arg1796Lys Single submitter ⚠
p.Arg227His Single submitter ⚠
p.Arg227Ser Single submitter ⚠
p.Arg2307Gly Single submitter ⚠
p.Arg2541Gly Single submitter ⚠
p.Arg2570Gln Single submitter ⚠
p.Arg2570Trp Single submitter ⚠
p.Arg2931Gln Single submitter ⚠
p.Arg2931Gly Single submitter ⚠
p.Arg2931Trp Single submitter ⚠
p.Arg2932Trp Single submitter ⚠
p.Arg3007Gln Single submitter ⚠
p.Arg3017Trp Single submitter ⚠
p.Arg539Ile Single submitter ⚠
p.Arg581Cys Single submitter ⚠
p.Arg606Gln Single submitter ⚠
p.Arg85Lys Single submitter ⚠
p.Asn1020Ile Single submitter ⚠
p.Asn138Ser Single submitter ⚠
p.Asn1493Asp Single submitter ⚠
p.Asn1723Asp Single submitter ⚠
p.Asn1905Asp Single submitter ⚠
p.Asn2247Ser Single submitter ⚠
p.Asn2268Ser Single submitter ⚠
p.Asn2558Lys Single submitter
p.Asn2558Tyr Single submitter ⚠
p.Asn262Asp Single submitter ⚠
p.Asn262Ser Single submitter ⚠
p.Asn2694Ser Single submitter ⚠
p.Asn2965Asp Single submitter ⚠
p.Asn335His Single submitter ⚠
p.Asn382Tyr Single submitter ⚠
p.Asn531His Single submitter ⚠
p.Asn798Asp Single submitter ⚠
p.Asp1134Val Single submitter
p.Asp1211Ala Single submitter ⚠
p.Asp1257Asn Single submitter ⚠
p.Asp1298Gly Single submitter ⚠
p.Asp1431Gly Single submitter ⚠
p.Asp1483Ala Single submitter ⚠
p.Asp1739Glu Single submitter ⚠
p.Asp1933Tyr Single submitter ⚠
p.Asp2572His Single submitter ⚠
p.Asp3009Val Single submitter ⚠
p.Asp316Val Single submitter ⚠
p.Asp40Gly Single submitter
p.Asp47Val Single submitter ⚠
p.Asp60Asn Single submitter ⚠
p.Cys2445Phe Single submitter
p.Cys2503Tyr Single submitter
p.Gln1445Lys Single submitter ⚠
p.Gln1604Glu Single submitter ⚠
p.Gln1859Glu Single submitter ⚠
p.Gln254His Single submitter ⚠
p.Gln2661Arg Single submitter ⚠
p.Glu1179Lys Single submitter ⚠
p.Glu1711Lys Single submitter ⚠
p.Glu195Lys Single submitter ⚠
p.Glu2106Asp Single submitter ⚠
p.Glu2106Lys Single submitter ⚠
p.Glu2505Lys Single submitter ⚠
p.Glu2830Gly Single submitter
p.Glu3034Ala Single submitter ⚠
p.Glu964Lys Single submitter ⚠
p.Gly1021Ser Single submitter ⚠
p.Gly1082Glu Single submitter ⚠
p.Gly1266Val Single submitter ⚠
p.Gly1361Glu Single submitter ⚠
p.Gly1546Val Single submitter ⚠
p.Gly156Glu Single submitter ⚠
p.Gly1720Arg Single submitter ⚠
p.Gly1720Glu Single submitter
p.Gly1917Glu Single submitter ⚠
p.Gly2397Glu Single submitter ⚠
p.Gly2697Asp Single submitter ⚠
p.Gly2750Arg Single submitter ⚠
p.Gly2954Glu Single submitter
p.Gly444Arg Single submitter ⚠
p.Gly444Val Single submitter ⚠
p.Gly605Arg Single submitter ⚠
p.Gly637Asp Single submitter ⚠
p.His2359Arg Single submitter ⚠
p.His2474Tyr Single submitter ⚠
p.His265Arg Single submitter ⚠
p.Ile1075Leu Single submitter ⚠
p.Ile1085Ser Single submitter ⚠
p.Ile110Val Single submitter ⚠
p.Ile1231Val Single submitter ⚠
p.Ile1565Lys Single submitter ⚠
p.Ile1765Val Single submitter ⚠
p.Ile2278Val Single submitter ⚠
p.Ile2333Val Single submitter ⚠
p.Ile2334Met Single submitter ⚠
p.Ile247Met Single submitter ⚠
p.Ile247Val Single submitter ⚠
p.Ile2492Val Single submitter ⚠
p.Ile2493Asn Single submitter ⚠
p.Ile2715Thr Single submitter ⚠
p.Ile2715Val Single submitter ⚠
p.Ile274Val Single submitter ⚠
p.Ile2766Thr Single submitter ⚠
p.Ile2844Met Single submitter ⚠
p.Ile331Val Single submitter ⚠
p.Ile333Thr Single submitter ⚠
p.Ile430Val Single submitter ⚠
p.Ile474Asn Single submitter ⚠
p.Ile474Leu Single submitter ⚠
p.Ile741Val Single submitter ⚠
p.Leu1054Ile Single submitter ⚠
p.Leu1143Phe Single submitter ⚠
p.Leu1200Phe Single submitter ⚠
p.Leu1223Ser Single submitter ⚠
p.Leu1473Arg Single submitter ⚠
p.Leu1807Val Single submitter ⚠
p.Leu2043Val Single submitter ⚠
p.Leu214Ile Single submitter ⚠
p.Leu2175Pro Single submitter ⚠
p.Leu2478Phe Single submitter ⚠
p.Leu2663Phe Single submitter ⚠
p.Leu2783Val Single submitter
p.Leu2795Phe Single submitter
p.Leu28Ile Single submitter ⚠
p.Leu2939Ile Single submitter ⚠
p.Leu2968Trp Single submitter ⚠
p.Leu2977Phe Single submitter ⚠
p.Leu428Phe Single submitter ⚠
p.Leu756Pro Single submitter ⚠
p.Leu835Ser Single submitter ⚠
p.Lys2172Asn Single submitter ⚠
p.Lys2643Glu Single submitter ⚠
p.Lys301Gln Single submitter ⚠
p.Lys3030Arg Single submitter ⚠
p.Lys900Glu Single submitter ⚠
p.Met1504Leu Single submitter ⚠
p.Met1504Val Single submitter ⚠
p.Met1543Ile Single submitter ⚠
p.Met1601Ile Single submitter ⚠
p.Met1603Lys Single submitter ⚠
p.Met1664Thr Single submitter ⚠
p.Met1937Val Single submitter ⚠
p.Met2047Arg Single submitter ⚠
p.Met2090Val Single submitter ⚠
p.Met2131Val Single submitter ⚠
p.Met2145Ile Single submitter ⚠
p.Met2578Ile Single submitter ⚠
p.Met544Leu Single submitter ⚠
p.Met544Thr Single submitter ⚠
p.Met850Thr Single submitter ⚠
p.Met927Ile Single submitter ⚠
p.Phe1129Val Single submitter ⚠
p.Phe1191Leu Single submitter ⚠
p.Phe1284Ser Single submitter ⚠
p.Phe21Leu Single submitter ⚠
p.Phe2216Ser Single submitter ⚠
p.Phe2955Val Single submitter ⚠
p.Phe565Leu Single submitter
p.Phe799Val Single submitter ⚠
p.Phe931Leu Single submitter ⚠
p.Pro1008Leu Single submitter ⚠
p.Pro1138Gln Single submitter ⚠
p.Pro1215Thr Single submitter ⚠
p.Pro1495Ser Single submitter ⚠
p.Pro1574Ser Single submitter ⚠
p.Pro1612Ser Single submitter ⚠
p.Pro1637Leu Single submitter ⚠
p.Pro1840Thr Single submitter ⚠
p.Pro1854Ser Single submitter ⚠
p.Pro1886Thr Single submitter ⚠
p.Pro2005Ala Single submitter ⚠
p.Pro2019Ser Single submitter ⚠
p.Pro2020Ser Single submitter ⚠
p.Pro2105Ser Single submitter ⚠
p.Pro2160Gln Single submitter ⚠
p.Pro2165His Single submitter ⚠
p.Pro2618Leu Single submitter ⚠
p.Pro2776Ser Single submitter
p.Pro3061Thr Single submitter ⚠
p.Pro370Leu Single submitter ⚠
p.Pro479Ala Single submitter ⚠
p.Pro704Leu Single submitter ⚠
p.Pro770Leu Single submitter ⚠
p.Pro778Ala Single submitter ⚠
p.Pro797Ser Single submitter ⚠
p.Pro827Gln Single submitter ⚠
p.Pro863Ser Single submitter ⚠
p.Ser109Pro Single submitter ⚠
p.Ser1324Tyr Single submitter ⚠
p.Ser1458Asn Single submitter ⚠
p.Ser1469Pro Single submitter ⚠
p.Ser1589Cys Single submitter ⚠
p.Ser1682Phe Single submitter ⚠
p.Ser1873Ile Single submitter ⚠
p.Ser2155Pro Single submitter ⚠
p.Ser2177Cys Single submitter ⚠
p.Ser2177Tyr Single submitter ⚠
p.Ser2226Pro Single submitter ⚠
p.Ser2282Cys Single submitter ⚠
p.Ser2337Gly Single submitter ⚠
p.Ser2343Pro Single submitter ⚠
p.Ser2351Asn Single submitter ⚠
p.Ser285Thr Single submitter ⚠
p.Ser2870Gly Single submitter ⚠
p.Ser2992Asn Single submitter ⚠
p.Ser3015Asn Single submitter ⚠
p.Ser325Cys Single submitter ⚠
p.Ser393Phe Single submitter ⚠
p.Ser395Leu Single submitter ⚠
p.Ser395Pro Single submitter ⚠
p.Ser458Phe Single submitter ⚠
p.Ser536Pro Single submitter ⚠
p.Ser570Arg Single submitter ⚠
p.Ser570Asn Single submitter ⚠
p.Ser624Thr Single submitter ⚠
p.Ser640Tyr Single submitter ⚠
p.Ser650Phe Single submitter ⚠
p.Ser650Pro Single submitter ⚠
p.Ser651Asn Single submitter ⚠
p.Thr1070Ala Single submitter ⚠
p.Thr1109Ile Single submitter ⚠
p.Thr1126Ile Single submitter ⚠
p.Thr1140Ile Single submitter ⚠
p.Thr1202Asn Single submitter ⚠
p.Thr1236Ile Single submitter ⚠
p.Thr1305Ile Single submitter ⚠
p.Thr1322Pro Single submitter ⚠
p.Thr1337Ser Single submitter ⚠
p.Thr1418Asn Single submitter ⚠
p.Thr1486Ser Single submitter ⚠
p.Thr1508Ser Single submitter ⚠
p.Thr1537Ile Single submitter ⚠
p.Thr1576Ile Single submitter ⚠
p.Thr1641Ile Single submitter ⚠
p.Thr1643Met Single submitter ⚠
p.Thr1649Ile Single submitter ⚠
p.Thr1713Ile Single submitter ⚠
p.Thr1728Ser Single submitter ⚠
p.Thr1761Ile Single submitter ⚠
p.Thr1852Ile Single submitter ⚠
p.Thr1868Ala Single submitter ⚠
p.Thr1909Ile Single submitter ⚠
p.Thr1921Lys Single submitter ⚠
p.Thr2057Ala Single submitter ⚠
p.Thr2136Ser Single submitter ⚠
p.Thr2185Ala Single submitter ⚠
p.Thr2185Ile Single submitter ⚠
p.Thr2187Ile Single submitter ⚠
p.Thr2205Ile Single submitter ⚠
p.Thr221Ala Single submitter ⚠
p.Thr2264Asn Single submitter ⚠
p.Thr2358Ile Single submitter ⚠
p.Thr2368Ser Single submitter ⚠
p.Thr2409Ala Single submitter ⚠
p.Thr2432Met Single submitter ⚠
p.Thr250Ala Single submitter ⚠
p.Thr2624Lys Single submitter ⚠
p.Thr2624Met Single submitter ⚠
p.Thr2734Pro Single submitter ⚠
p.Thr279Ser Single submitter ⚠
p.Thr2946Ser Single submitter ⚠
p.Thr2952Ser Single submitter
p.Thr3047Ala Single submitter ⚠
p.Thr3047Asn Single submitter ⚠
p.Thr343Arg Single submitter ⚠
p.Thr343Lys Single submitter ⚠
p.Thr353Ile Single submitter ⚠
p.Thr406Asn Single submitter ⚠
p.Thr445Ile Single submitter ⚠
p.Thr517Ala Single submitter ⚠
p.Thr556Ile Single submitter ⚠
p.Thr556Ser Single submitter ⚠
p.Thr561Lys Single submitter ⚠