GOLGA3 — 277 ClinVar variants

All ClinVar germline GOLGA3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 238 flagged for review →

1 Conflicting · 4 Benign · 27 Likely benign · 245 Uncertain significance

Full GOLGA3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 238

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 1

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

GOLGA3 p.Val890Ala Conflicting Single submitter

Predictors lean, ClinVar uncertain 209

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 209

Predictors split 28

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

All GOLGA3 variants

Conflicting classifications of pathogenicity 1

p.Val890Ala Single submitter ⚠

Benign 4

p.Ala563Val Multiple submitters
c.1290+5C>T Single submitter
p.Ala443= Single submitter
p.Ser282= Single submitter

Likely benign 27

p.Ala1019Ser Single submitter
p.Ala1049Val Single submitter
p.Ala1419= Single submitter
p.Ala499= Single submitter
p.Ala780Val Single submitter
p.Ala899Val Single submitter
p.Ala925Val Single submitter
p.Ala955Val Single submitter
p.Gln576Arg Single submitter
p.Glu954= Single submitter
p.Gly644Ser Single submitter
p.Gly788Ser Single submitter
p.His1228Gln Single submitter
p.His629Gln Single submitter
p.His891= Single submitter
p.Ile819Val Single submitter
p.Leu1428= Single submitter
p.Lys334Asn Single submitter
p.Lys977= Single submitter
p.Met344Val Single submitter
p.Met888Ile Single submitter
p.Pro1417= Single submitter
p.Pro1473Leu Single submitter
p.Pro1496Leu Single submitter
p.Ser107Ala Single submitter
p.Thr181Met Single submitter
p.Thr203Ala Single submitter

Uncertain significance 245

c.2812-1G>A Single submitter
p.Ala1015Val Single submitter ⚠
p.Ala1019Pro Single submitter ⚠
p.Ala1019Thr Single submitter ⚠
p.Ala1022Thr Single submitter ⚠
p.Ala1029Val Single submitter ⚠
p.Ala1070Val Single submitter ⚠
p.Ala1129Thr Single submitter ⚠
p.Ala1130Val Single submitter ⚠
p.Ala1143Ser Single submitter ⚠
p.Ala1176Ser Single submitter ⚠
p.Ala1198Val Single submitter ⚠
p.Ala1202Gly Single submitter ⚠
p.Ala1378Thr Single submitter ⚠
p.Ala1491Val Single submitter ⚠
p.Ala256Val Single submitter ⚠
p.Ala265Pro Single submitter ⚠
p.Ala280Glu Single submitter ⚠
p.Ala323Thr Single submitter ⚠
p.Ala368Thr Single submitter ⚠
p.Ala370Thr Single submitter ⚠
p.Ala370Val Single submitter ⚠
p.Ala423Ser Single submitter ⚠
p.Ala440Val Single submitter ⚠
p.Ala483Asp Single submitter ⚠
p.Ala496Thr Single submitter ⚠
p.Ala499Thr Single submitter ⚠
p.Ala639Glu Single submitter ⚠
p.Ala688Glu Single submitter ⚠
p.Ala688Val Single submitter ⚠
p.Ala691Val Single submitter ⚠
p.Ala692Val Single submitter ⚠
p.Ala742Thr Single submitter ⚠
p.Ala784Val Single submitter ⚠
p.Ala833Gly Single submitter ⚠
p.Ala854Ser Single submitter ⚠
p.Ala859Thr Single submitter ⚠
p.Ala859Val Single submitter ⚠
p.Ala916Glu Single submitter ⚠
p.Ala948Val Single submitter ⚠
p.Ala988Val Single submitter ⚠
p.Arg1102His Single submitter ⚠
p.Arg1162His Single submitter ⚠
p.Arg1168Cys Single submitter ⚠
p.Arg1207Cys Single submitter ⚠
p.Arg1376His Single submitter ⚠
p.Arg1444His Single submitter ⚠
p.Arg1480His Single submitter ⚠
p.Arg1490Lys Single submitter ⚠
p.Arg151Gln Single submitter ⚠
p.Arg155Trp Single submitter ⚠
p.Arg169Cys Single submitter ⚠
p.Arg219Trp Single submitter ⚠
p.Arg296His Single submitter ⚠
p.Arg384Gln Single submitter ⚠
p.Arg386Gln Single submitter ⚠
p.Arg386Leu Single submitter ⚠
p.Arg462Gln Single submitter ⚠
p.Arg575Gly Single submitter ⚠
p.Arg589His Single submitter
p.Arg764Gly Single submitter ⚠
p.Arg797Gly Single submitter ⚠
p.Arg797Ser Single submitter ⚠
p.Arg798Cys Single submitter ⚠
p.Arg814Thr Single submitter ⚠
p.Arg856Gln Single submitter ⚠
p.Arg857Cys Single submitter ⚠
p.Arg857His Single submitter ⚠
p.Arg895Trp Single submitter ⚠
p.Arg903His Single submitter ⚠
p.Arg906Thr Single submitter ⚠
p.Arg912Cys Single submitter ⚠
p.Arg929Gln Single submitter ⚠
p.Arg968Gly Single submitter ⚠
p.Asn1001Asp Single submitter ⚠
p.Asn103Ser Single submitter ⚠
p.Asn1128Thr Single submitter ⚠
p.Asn773His Single submitter ⚠
p.Asn953Ser Single submitter ⚠
p.Asp292Asn Single submitter ⚠
p.Asp295His Single submitter ⚠
p.Asp316Asn Single submitter ⚠
p.Asp316Tyr Single submitter
p.Asp374Gly Single submitter ⚠
p.Asp504Asn Single submitter
p.Asp535Asn Single submitter ⚠
p.Asp648Val Single submitter ⚠
p.Asp709Glu Single submitter ⚠
p.Asp721His Single submitter ⚠
p.Asp741Asn Single submitter ⚠
p.Asp748Asn Single submitter ⚠
p.Asp748Tyr Single submitter ⚠
p.Asp766Gly Single submitter ⚠
p.Asp766Tyr Single submitter ⚠
p.Asp766Val Single submitter ⚠
p.Asp793Val Single submitter ⚠
p.Asp858Asn Single submitter ⚠
p.Asp942Asn Single submitter ⚠
p.Cys391Tyr Single submitter ⚠
p.Gln1301Arg Single submitter ⚠
p.Gln1350Glu Single submitter ⚠
p.Gln149Arg Single submitter ⚠
p.Gln373Glu Single submitter ⚠
p.Gln375His Single submitter ⚠
p.Gln40Leu Single submitter ⚠
p.Gln44His Single submitter ⚠
p.Gln450Arg Single submitter ⚠
p.Gln730His Single submitter ⚠
p.Gln783Arg Single submitter ⚠
p.Gln844Leu Single submitter ⚠
p.Gln885Lys Single submitter ⚠
p.Glu1067Lys Single submitter ⚠
p.Glu1104Gln Single submitter ⚠
p.Glu1113Asp Single submitter ⚠
p.Glu1388Asp Single submitter ⚠
p.Glu1388Lys Single submitter ⚠
p.Glu1455Lys Single submitter ⚠
p.Glu190Lys Single submitter ⚠
p.Glu405Lys Single submitter ⚠
p.Glu413Lys Single submitter ⚠
p.Glu422Lys Single submitter ⚠
p.Glu509Lys Single submitter ⚠
p.Glu7Lys Single submitter ⚠
p.Glu800Asp Single submitter ⚠
p.Glu898Lys Single submitter ⚠
p.Glu931Lys Single submitter ⚠
p.Glu951Gln Single submitter ⚠
p.Glu961Lys Single submitter ⚠
p.Gly1025Arg Single submitter ⚠
p.Gly1119Arg Single submitter ⚠
p.Gly1125Cys Single submitter ⚠
p.Gly1203Arg Single submitter ⚠
p.Gly1203Glu Single submitter ⚠
p.Gly1377Ser Single submitter ⚠
p.Gly1475Cys Single submitter ⚠
p.Gly1481Asp Single submitter ⚠
p.Gly1481Ser Single submitter ⚠
p.Gly1495Arg Single submitter ⚠
p.Gly227Arg Single submitter ⚠
p.Gly257Ala Single submitter ⚠
p.Gly3Ser Single submitter ⚠
p.Gly55Arg Single submitter ⚠
p.Gly594Asp Single submitter ⚠
p.Gly594Cys Single submitter ⚠
p.Gly602Glu Single submitter ⚠
p.Gly608Cys Single submitter
p.Gly70Arg Single submitter ⚠
p.Gly755Ala Single submitter ⚠
p.His101Tyr Single submitter ⚠
p.His1204Gln Single submitter ⚠
p.His1454Tyr Single submitter ⚠
p.His1476Asn Single submitter ⚠
p.His1486Gln Single submitter ⚠
p.His372Gln Single submitter ⚠
p.His746Pro Single submitter ⚠
p.His826Tyr Single submitter ⚠
p.Leu1014Phe Single submitter ⚠
p.Leu128Phe Single submitter ⚠
p.Leu1425Val Single submitter ⚠
p.Leu228Phe Single submitter ⚠
p.Leu289Val Single submitter ⚠
p.Leu408Val Single submitter ⚠
p.Leu527Arg Single submitter ⚠
p.Leu552Val Single submitter ⚠
p.Leu720Val Single submitter ⚠
p.Leu810Ser Single submitter
p.Leu846Phe Single submitter ⚠
p.Leu922Phe Single submitter ⚠
p.Lys106Thr Single submitter ⚠
p.Lys1163Arg Single submitter ⚠
p.Lys1192Arg Single submitter ⚠
p.Lys1199Glu Single submitter ⚠
p.Lys1220Thr Single submitter
p.Lys1316Asn Single submitter ⚠
p.Lys1344Asn Single submitter ⚠
p.Lys1361Arg Single submitter ⚠
p.Lys146Glu Single submitter ⚠
p.Lys820Glu Single submitter ⚠
p.Lys840Glu Single submitter ⚠
p.Met1286Ile Single submitter ⚠
p.Met1286Thr Single submitter ⚠
p.Met1341Val Single submitter ⚠
p.Met192Val Single submitter ⚠
p.Met206Val Single submitter ⚠
p.Met490Leu Single submitter ⚠
p.Met632Thr Single submitter ⚠
p.Met665Thr Single submitter ⚠
p.Met992Thr Single submitter ⚠
p.Pro1406His Single submitter ⚠
p.Pro1479Ala Single submitter ⚠
p.Pro1496Arg Single submitter ⚠
p.Pro351Arg Single submitter ⚠
p.Ser123Phe Single submitter ⚠
p.Ser1330Cys Single submitter ⚠
p.Ser1390Gly Single submitter ⚠
p.Ser1408Leu Single submitter ⚠
p.Ser1459Leu Single submitter ⚠
p.Ser18Arg Single submitter ⚠
p.Ser21Trp Single submitter ⚠
p.Ser279Arg Single submitter ⚠
p.Ser306Gly Single submitter ⚠
p.Ser306Ile Single submitter ⚠
p.Ser319Leu Single submitter ⚠
p.Ser459Gly Single submitter ⚠
p.Ser476Leu Single submitter ⚠
p.Ser497Arg Single submitter ⚠
p.Ser569Leu Single submitter ⚠
p.Ser573Thr Single submitter ⚠
p.Ser5Leu Single submitter ⚠
p.Ser735Asn Single submitter ⚠
p.Ser763Ala Single submitter ⚠
p.Ser807Leu Single submitter ⚠
p.Ser878Leu Single submitter ⚠
p.Ser924Leu Single submitter ⚠
p.Ser987Arg Single submitter ⚠
p.Thr133Met Single submitter ⚠
p.Thr1381Met Single submitter ⚠
p.Thr138Ile Single submitter ⚠
p.Thr1396Met Single submitter ⚠
p.Thr1452Met Single submitter ⚠
p.Thr1461Met Single submitter ⚠
p.Thr179Ser Single submitter ⚠
p.Thr335Ser Single submitter ⚠
p.Thr354Ile Single submitter ⚠
p.Thr555Met Single submitter ⚠
p.Thr556Met Single submitter ⚠
p.Thr605Ile Single submitter ⚠
p.Thr625Met Single submitter ⚠
p.Thr627Ser Single submitter ⚠
p.Thr664Met Single submitter ⚠
p.Thr806Met Single submitter ⚠
p.Thr85Ile Single submitter ⚠
p.Thr86Lys Single submitter ⚠
p.Tyr320Cys Single submitter ⚠
p.Tyr329Cys Single submitter ⚠
p.Tyr343Cys Single submitter ⚠
p.Tyr747Asn Single submitter ⚠
p.Val1003Met Single submitter ⚠
p.Val1230Glu Single submitter
p.Val1230Leu Single submitter ⚠
p.Val1281Leu Single submitter ⚠
p.Val1420Met Single submitter ⚠
p.Val283Ile Single submitter ⚠
p.Val364Ile Single submitter ⚠
p.Val43Phe Single submitter ⚠