ADGRB1 — 223 ClinVar variants

All ClinVar germline ADGRB1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 204 flagged for review →

7 Benign · 6 Likely benign · 210 Uncertain significance

Full ADGRB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 204

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 176

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 176

Predictors split 28

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

All ADGRB1 variants

Benign 7

c.2130+15C>G Multiple submitters
p.Ala1507Val Multiple submitters
p.Pro1295= Multiple submitters
p.Pro575= Multiple submitters
p.Ser480= Multiple submitters
p.Thr1274= Multiple submitters
p.Glu1444= Single submitter

Likely benign 6

p.Ala229Val Single submitter
p.Ala944Val Single submitter
p.Gly1443= Single submitter
p.Pro1393= Single submitter
p.Thr1382Met Single submitter
p.Val548Ala Single submitter

Uncertain significance 210

p.Ala131Thr Single submitter ⚠
p.Ala1406Gly Single submitter ⚠
p.Ala1409Thr Single submitter ⚠
p.Ala1447Thr Single submitter ⚠
p.Ala1463Thr Single submitter ⚠
p.Ala1506Thr Single submitter ⚠
p.Ala195Val Single submitter ⚠
p.Ala214Ser Single submitter ⚠
p.Ala220Val Single submitter ⚠
p.Ala225Val Single submitter ⚠
p.Ala30Pro Single submitter ⚠
p.Ala404Val Single submitter ⚠
p.Ala44Asp Single submitter ⚠
p.Ala478Ser Single submitter ⚠
p.Ala529Thr Single submitter ⚠
p.Ala700Val Single submitter ⚠
p.Ala721Ser Single submitter ⚠
p.Ala734Val Single submitter ⚠
p.Ala798Pro Single submitter ⚠
p.Ala944Glu Single submitter ⚠
p.Arg1045Trp Single submitter ⚠
p.Arg1047Cys Single submitter ⚠
p.Arg1047His Single submitter ⚠
p.Arg1255Gln Single submitter ⚠
p.Arg1293His Single submitter ⚠
p.Arg1335Trp Single submitter ⚠
p.Arg1391Cys Single submitter ⚠
p.Arg1391His Single submitter ⚠
p.Arg1396Cys Single submitter ⚠
p.Arg1396His Single submitter ⚠
p.Arg1472Gln Single submitter ⚠
p.Arg1472Trp Single submitter ⚠
p.Arg1476Trp Single submitter ⚠
p.Arg1501Gln Single submitter ⚠
p.Arg1501Trp Single submitter ⚠
p.Arg1535Trp Single submitter ⚠
p.Arg1559His Single submitter ⚠
p.Arg157Trp Single submitter ⚠
p.Arg159fs Single submitter
p.Arg159Trp Single submitter ⚠
p.Arg183Leu Single submitter ⚠
p.Arg255Gln Single submitter ⚠
p.Arg319fs Single submitter
p.Arg319His Single submitter ⚠
p.Arg323Trp Single submitter ⚠
p.Arg333Trp Single submitter ⚠
p.Arg434Cys Single submitter ⚠
p.Arg464Trp Single submitter ⚠
p.Arg544Gln Single submitter ⚠
p.Arg567Gln Single submitter ⚠
p.Arg573Trp Single submitter ⚠
p.Arg603Gln Single submitter ⚠
p.Arg606His Single submitter ⚠
p.Arg655Gln Single submitter ⚠
p.Arg67Cys Single submitter ⚠
p.Arg725Gln Single submitter ⚠
p.Arg725Trp Single submitter ⚠
p.Arg743Trp Single submitter ⚠
p.Arg755Cys Single submitter ⚠
p.Arg862His Single submitter ⚠
p.Asn1459Lys Single submitter ⚠
p.Asn180Ser Single submitter ⚠
p.Asn180Tyr Single submitter ⚠
p.Asn495Ser Single submitter ⚠
p.Asn585Ser Single submitter ⚠
p.Asn64Lys Single submitter ⚠
p.Asn737Lys Single submitter ⚠
p.Asp1224Glu Single submitter ⚠
p.Asp1579Asn Single submitter ⚠
p.Asp233Val Single submitter ⚠
p.Asp413Asn Single submitter ⚠
p.Asp726Glu Single submitter ⚠
p.Asp76Asn Single submitter ⚠
p.Asp820Asn Single submitter ⚠
p.Asp938Gly Single submitter ⚠
p.Gln1166Arg Single submitter ⚠
p.Gln1371Arg Single submitter ⚠
p.Gln1493Lys Single submitter ⚠
p.Gln351Pro Single submitter ⚠
p.Gln440Ter Single submitter
p.Glu1032Lys Single submitter ⚠
p.Glu1405Lys Single submitter ⚠
p.Glu1460Lys Single submitter ⚠
p.Glu1562Val Single submitter ⚠
p.Glu219Gly Single submitter ⚠
p.Glu219Lys Single submitter ⚠
p.Glu245Lys Single submitter ⚠
p.Glu41Lys Single submitter ⚠
p.Glu510Asp Single submitter ⚠
p.Glu620Lys Single submitter ⚠
p.Gly1177Ser Single submitter ⚠
p.Gly1211Val Single submitter ⚠
p.Gly1296Ser Single submitter ⚠
p.Gly1297Arg Single submitter ⚠
p.Gly1401Ser Single submitter ⚠
p.Gly1443Arg Single submitter ⚠
p.Gly1450Arg Single submitter ⚠
p.Gly161fs Single submitter
p.Gly221Asp Single submitter ⚠
p.Gly221Ser Single submitter ⚠
p.Gly222Arg Single submitter ⚠
p.Gly226Arg Single submitter ⚠
p.Gly242Ala Single submitter ⚠
p.Gly257Ala Single submitter ⚠
p.Gly297Asp Single submitter ⚠
p.Gly315Ala Single submitter ⚠
p.Gly315Ser Single submitter ⚠
p.Gly551Glu Single submitter ⚠
p.Gly676Arg Single submitter ⚠
p.Gly780Arg Single submitter ⚠
p.Gly795Val Single submitter ⚠
p.Gly95Val Single submitter ⚠
p.His1043Tyr Single submitter ⚠
p.His1289Arg Single submitter ⚠
p.His204Pro Single submitter ⚠
p.His578Gln Single submitter ⚠
p.Ile1109Phe Single submitter ⚠
p.Ile752Val Single submitter ⚠
p.Ile870Thr Single submitter ⚠
p.Leu1056Arg Single submitter ⚠
p.Leu1155Val Single submitter ⚠
p.Leu1341Met Single submitter ⚠
p.Leu216Pro Single submitter ⚠
p.Leu281Arg Single submitter ⚠
p.Leu769Val Single submitter ⚠
p.Leu82Phe Single submitter ⚠
p.Leu841Val Single submitter ⚠
p.Leu917His Single submitter ⚠
p.Leu960Val Single submitter ⚠
p.Lys1126Glu Single submitter ⚠
p.Lys1360Asn Single submitter ⚠
p.Lys1536Arg Single submitter ⚠
p.Lys739Arg Single submitter ⚠
p.Met188Val Single submitter ⚠
p.Met693Ile Single submitter ⚠
p.Met756Leu Single submitter ⚠
p.Met788Thr Single submitter ⚠
p.Met84Val Single submitter ⚠
p.Met875Val Single submitter ⚠
p.Met964Val Single submitter ⚠
p.Phe1482Leu Single submitter ⚠
p.Phe838Val Single submitter ⚠
p.Pro1256Leu Single submitter ⚠
p.Pro1272Leu Single submitter ⚠
p.Pro1292Thr Single submitter ⚠
p.Pro1295Ala Single submitter ⚠
p.Pro1303Ser Single submitter ⚠
p.Pro1393Leu Single submitter ⚠
p.Pro1398His Single submitter ⚠
p.Pro1398Ser Single submitter ⚠
p.Pro1404Thr Single submitter ⚠
p.Pro1416Leu Single submitter ⚠
p.Pro1418Leu Single submitter ⚠
p.Pro1429Leu Single submitter ⚠
p.Pro1434Leu Single submitter ⚠
p.Pro1437Arg Single submitter ⚠
p.Pro1449Leu Single submitter ⚠
p.Pro1455Ser Single submitter ⚠
p.Pro1520Leu Single submitter ⚠
p.Pro212Ser Single submitter ⚠
p.Pro212Thr Single submitter ⚠
p.Pro292Arg Single submitter ⚠
p.Pro362Leu Single submitter ⚠
p.Pro38Leu Single submitter ⚠
p.Pro38Thr Single submitter ⚠
p.Pro628Ser Single submitter ⚠
p.Pro62Gln Single submitter
p.Pro903His Single submitter ⚠
p.Pro913Arg Single submitter ⚠
p.Pro92Ser Single submitter ⚠
p.Ser1213Phe Single submitter ⚠
p.Ser1400Arg Single submitter ⚠
p.Ser1456Arg Single submitter ⚠
p.Ser1469Phe Single submitter ⚠
p.Ser250Thr Single submitter ⚠
p.Ser498Phe Single submitter ⚠
p.Ser896Phe Single submitter ⚠
p.Thr101Ser Single submitter ⚠
p.Thr111Ala Single submitter ⚠
p.Thr1352Met Single submitter ⚠
p.Thr1453Met Single submitter ⚠
p.Thr1540Met Single submitter ⚠
p.Thr1542Met Single submitter ⚠
p.Thr352Pro Single submitter ⚠
p.Thr677Ala Single submitter ⚠
p.Thr705Asn Single submitter ⚠
p.Thr794Met Single submitter ⚠
p.Thr814Met Single submitter ⚠
p.Thr845Met Single submitter ⚠
p.Trp270fs Single submitter
p.Tyr499Ser Single submitter ⚠
p.Val1102Ile Single submitter ⚠
p.Val1118Met Single submitter ⚠
p.Val1157Ile Single submitter ⚠
p.Val1179Ile Single submitter ⚠
p.Val1195Met Single submitter ⚠
p.Val11Gly Single submitter ⚠
p.Val11Phe Single submitter ⚠
p.Val1561Met Single submitter ⚠
p.Val294Ala Single submitter ⚠
p.Val302Leu Single submitter ⚠
p.Val47Ala Single submitter ⚠
p.Val589Leu Single submitter ⚠
p.Val689Ala Single submitter ⚠
p.Val709Ile Single submitter ⚠
p.Val824Met Single submitter ⚠
p.Val830Met Single submitter ⚠
p.Val91Gly Single submitter ⚠
p.Val957Ala Single submitter ⚠
p.Val970Ala Single submitter ⚠