INO80 — 236 ClinVar variants
All ClinVar germline INO80 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 153 flagged for review →
2 Likely pathogenic · 2 Conflicting · 13 Benign · 2 Benign/Likely benign · 56 Likely benign · 161 Uncertain significance
Full INO80 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 153
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.
-
INO80 p.Arg1246Gln
Likely pathogenic
Single submitter
INO80-related immunodeficiency
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 116
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- INO80 p.Ala1388Pro Uncertain significance Multiple submitters
-
INO80 p.Leu906Val
Uncertain significance
Multiple submitters
INO80-related disorder
- INO80 p.Ala1013Gly Uncertain significance Single submitter
- INO80 p.Ala1401Thr Uncertain significance Single submitter
- INO80 p.Ala1421Val Uncertain significance Single submitter
- INO80 p.Ala1488Thr Uncertain significance Single submitter
- INO80 p.Ala464Gly Uncertain significance Single submitter
- INO80 p.Ala473Gly Uncertain significance Single submitter
- INO80 p.Ala484Thr Uncertain significance Single submitter
- INO80 p.Ala561Gly Uncertain significance Single submitter
- INO80 p.Ala7Val Uncertain significance Single submitter
- INO80 p.Ala911Val Uncertain significance Single submitter
- INO80 p.Arg1065Gln Uncertain significance Single submitter
- INO80 p.Arg1065Gly Uncertain significance Single submitter
- INO80 p.Arg1395Gln Uncertain significance Single submitter
- INO80 p.Arg1448Gln Uncertain significance Single submitter
- INO80 p.Arg1448Trp Uncertain significance Single submitter
- INO80 p.Arg1498Gln Uncertain significance Single submitter
- INO80 p.Arg1544Trp Uncertain significance Single submitter
- INO80 p.Arg1556Trp Uncertain significance Single submitter
- INO80 p.Arg202Gln Uncertain significance Single submitter
- INO80 p.Arg242His Uncertain significance Single submitter
- INO80 p.Arg276Gly Uncertain significance Single submitter
- INO80 p.Arg278Lys Uncertain significance Single submitter
- INO80 p.Arg465Gln Uncertain significance Single submitter
- INO80 p.Arg482Gln Uncertain significance Single submitter
- INO80 p.Arg846His Uncertain significance Single submitter
- INO80 p.Arg851Gly Uncertain significance Single submitter
- INO80 p.Arg851Lys Uncertain significance Single submitter
- INO80 p.Arg862Ser Uncertain significance Single submitter
- INO80 p.Arg8Thr Uncertain significance Single submitter
- INO80 p.Arg942Thr Uncertain significance Single submitter
- INO80 p.Arg991Gln Uncertain significance Single submitter
- INO80 p.Arg991Trp Uncertain significance Single submitter
- INO80 p.Asn1292Ser Uncertain significance Single submitter
- INO80 p.Asn1337Ser Uncertain significance Single submitter
- INO80 p.Asn43Ser Uncertain significance Single submitter
- INO80 p.Asp10His Uncertain significance Single submitter
- INO80 p.Asp1195Gly Uncertain significance Single submitter
- INO80 p.Asp428Gly Uncertain significance Single submitter
- INO80 p.Asp67Tyr Uncertain significance Single submitter
- INO80 p.Asp858His Uncertain significance Single submitter
- INO80 p.Cys1011Arg Uncertain significance Single submitter
- INO80 p.Cys977Tyr Uncertain significance Single submitter
- INO80 p.Gln1393Pro Uncertain significance Single submitter
- INO80 p.Gln247Leu Uncertain significance Single submitter
- INO80 p.Gln426His Uncertain significance Single submitter
- INO80 p.Gln647Arg Uncertain significance Single submitter
- INO80 p.Gln849Lys Uncertain significance Single submitter
- INO80 p.Gln986His Uncertain significance Single submitter
-
INO80 p.Glu1272Gly
Uncertain significance
Single submitter
INO80-related disorder
- INO80 p.Glu1311Asp Uncertain significance Single submitter
- INO80 p.Glu134Asp Uncertain significance Single submitter
- INO80 p.Gly1322Ser Uncertain significance Single submitter
- INO80 p.Gly1322Val Uncertain significance Single submitter
- INO80 p.Gly1501Ser Uncertain significance Single submitter
- INO80 p.Gly1526Glu Uncertain significance Single submitter
- INO80 p.Gly1549Ser Uncertain significance Single submitter
- INO80 p.Gly1554Glu Uncertain significance Single submitter
- INO80 p.Gly82Ser Uncertain significance Single submitter
- INO80 p.Gly937Ala Uncertain significance Single submitter
- INO80 p.His1426Gln Uncertain significance Single submitter
- INO80 p.His312Tyr Uncertain significance Single submitter
- INO80 p.His33Tyr Uncertain significance Single submitter
- INO80 p.His446Tyr Uncertain significance Single submitter
- INO80 p.His839Arg Uncertain significance Single submitter
- INO80 p.His855Tyr Uncertain significance Single submitter
- INO80 p.Ile129Val Uncertain significance Single submitter
- INO80 p.Ile1347Phe Uncertain significance Single submitter
- INO80 p.Ile1371Asn Uncertain significance Single submitter
- INO80 p.Ile1403Val Uncertain significance Single submitter
- INO80 p.Leu1002Val Uncertain significance Single submitter
- INO80 p.Leu1003Phe Uncertain significance Single submitter
- INO80 p.Leu102Arg Uncertain significance Single submitter
- INO80 p.Leu1109Arg Uncertain significance Single submitter
- INO80 p.Leu1518Phe Uncertain significance Single submitter
- INO80 p.Leu205Arg Uncertain significance Single submitter
- INO80 p.Leu81Arg Uncertain significance Single submitter
- INO80 p.Lys209Arg Uncertain significance Single submitter
- INO80 p.Lys253Arg Uncertain significance Single submitter
- INO80 p.Lys486Asn Uncertain significance Single submitter
- INO80 p.Lys519Asn Uncertain significance Single submitter
- INO80 p.Met1353Val Uncertain significance Single submitter
- INO80 p.Met1419Val Uncertain significance Single submitter
- INO80 p.Met1533Ile Uncertain significance Single submitter
- INO80 p.Met763Leu Uncertain significance Single submitter
- INO80 p.Pro1091Ala Uncertain significance Single submitter
- INO80 p.Pro1420Ala Uncertain significance Single submitter
- INO80 p.Pro1434Ala Uncertain significance Single submitter
- INO80 p.Pro1499Ala Uncertain significance Single submitter
- INO80 p.Pro261Thr Uncertain significance Single submitter
- INO80 p.Pro575Leu Uncertain significance Single submitter
- INO80 p.Pro77Leu Uncertain significance Single submitter
- INO80 p.Pro869Ser Uncertain significance Single submitter
- INO80 p.Pro869Thr Uncertain significance Single submitter
- INO80 p.Pro935Ser Uncertain significance Single submitter
- INO80 p.Pro966Ala Uncertain significance Single submitter
- INO80 p.Ser1095Thr Uncertain significance Single submitter
- INO80 p.Ser136Ile Uncertain significance Single submitter
- INO80 p.Ser1511Thr Uncertain significance Single submitter
- INO80 p.Ser1535Ile Uncertain significance Single submitter
- INO80 p.Ser923Ala Uncertain significance Single submitter
- INO80 p.Ser97Phe Uncertain significance Single submitter
- INO80 p.Ser997Leu Uncertain significance Single submitter
- INO80 p.Thr1176Ile Uncertain significance Single submitter
- INO80 p.Thr489Ala Uncertain significance Single submitter
- INO80 p.Trp1077Cys Uncertain significance Single submitter
- INO80 p.Tyr1194Cys Uncertain significance Single submitter
- INO80 p.Tyr194Cys Uncertain significance Single submitter
- INO80 p.Val101Ile Uncertain significance Single submitter
- INO80 p.Val1407Ile Uncertain significance Single submitter
- INO80 p.Val1482Met Uncertain significance Single submitter
- INO80 p.Val225Met Uncertain significance Single submitter
- INO80 p.Val751Met Uncertain significance Single submitter
- INO80 p.Val852Ala Uncertain significance Single submitter
- INO80 p.Val863Phe Uncertain significance Single submitter
Predictors split 35
The independent predictors disagree with each other — read with care.
-
INO80 p.Ala1340Pro
Uncertain significance
Multiple submitters
INO80-related disorder
-
INO80 p.Arg1029Gly
Uncertain significance
Multiple submitters
INO80-related disorder
-
INO80 p.Ala1477Thr
Uncertain significance
Single submitter
INO80-related disorder
- INO80 p.Arg1281Gln Conflicting Single submitter
- INO80 p.Arg1286Gly Uncertain significance Single submitter
- INO80 p.Arg1286Trp Uncertain significance Single submitter
- INO80 p.Arg1301Gln Uncertain significance Single submitter
- INO80 p.Arg1424Cys Uncertain significance Single submitter
- INO80 p.Arg335His Uncertain significance Single submitter
- INO80 p.Arg338Cys Uncertain significance Single submitter
- INO80 p.Arg338Gly Uncertain significance Single submitter
- INO80 p.Arg36Gly Uncertain significance Single submitter
- INO80 p.Arg401Cys Uncertain significance Single submitter
- INO80 p.Arg859Trp Uncertain significance Single submitter
- INO80 p.Gly100Arg Uncertain significance Single submitter
- INO80 p.Gly1425Cys Uncertain significance Single submitter
- INO80 p.Gly1432Arg Uncertain significance Single submitter
- INO80 p.Ile1327Thr Uncertain significance Single submitter
- INO80 p.Ile894Thr Uncertain significance Single submitter
- INO80 p.Leu323Ser Uncertain significance Single submitter
- INO80 p.Lys1435Thr Uncertain significance Single submitter
- INO80 p.Lys227Glu Uncertain significance Single submitter
- INO80 p.Lys265Ile Uncertain significance Single submitter
- INO80 p.Met806Leu Uncertain significance Single submitter
- INO80 p.Phe1069Leu Uncertain significance Single submitter
- INO80 p.Phe197Leu Uncertain significance Single submitter
- INO80 p.Phe34Leu Uncertain significance Single submitter
- INO80 p.Phe831Leu Uncertain significance Single submitter
- INO80 p.Phe843Leu Uncertain significance Single submitter
- INO80 p.Ser1014Arg Uncertain significance Single submitter
- INO80 p.Ser1452Cys Uncertain significance Single submitter
-
INO80 p.Ser501Pro
Likely pathogenic
Single submitter
INO80-related immunodeficiency
- INO80 p.Thr332Asn Uncertain significance Single submitter
- INO80 p.Tyr183Cys Uncertain significance Single submitter
- INO80 p.Arg482Trp Uncertain significance No assertion criteria
All INO80 variants
Likely pathogenic 2
- p.Arg1246Gln Single submitter INO80-related immunodeficiency ⚠
- p.Ser501Pro Single submitter INO80-related immunodeficiency ⚠
Conflicting classifications of pathogenicity 2
- p.Arg1000Cys Single submitter ⚠
- p.Arg1281Gln Single submitter ⚠
Benign 13
- c.2577-17A>T Multiple submitters
- p.Ala325= Multiple submitters
- p.Asp144= Multiple submitters
- p.Glu1302= Multiple submitters
- p.Glu938Gly Multiple submitters
- p.Ser136= Multiple submitters
- c.2071-96C>T Single submitter
- c.2274+35A>G Single submitter
- c.3274+34G>C Single submitter
- c.3833-109A>C Single submitter
- c.4078-39C>T Single submitter
- c.4453+46A>C Single submitter
- p.Tyr943= Single submitter
Benign/Likely benign 2
- p.Asn151Ser Multiple submitters
- p.Ile882Val Multiple submitters
Likely benign 56
- c.2070+12T>A Multiple submitters
- p.Asp133= Multiple submitters
- p.Asp53= Multiple submitters
- p.Ile270= Multiple submitters
- p.Pro19= Multiple submitters
- p.Val1108Gly Multiple submitters
- c.1131+17A>G Single submitter
- c.1396-10del Single submitter
- c.1396-10dup Single submitter
- c.1396-11_1396-10del Single submitter
- c.1605+11G>A Single submitter
- c.1606-20C>T Single submitter
- c.1606-7T>C Single submitter
- c.1843-15C>G Single submitter
- c.1986-13T>C Single submitter
- c.2274+10G>A Single submitter
- c.2442+13G>A Single submitter
- c.3274+12A>G Single submitter
- c.3570+18A>C Single submitter
- c.3832+7A>C Single submitter
- c.3833-3T>C Single submitter
- c.4454-7C>T Single submitter
- p.Ala1474= Single submitter
- p.Ala258= Single submitter
- p.Ala721= Single submitter
- p.Arg1448= Single submitter
- p.Asn800Thr Single submitter
- p.Gln928= Single submitter
- p.Glu233= Single submitter
- p.Glu884= Single submitter
- p.Glu938Lys Single submitter
- p.His603= Single submitter
- p.Ile896Val Single submitter
- p.Leu131= Single submitter
- p.Leu345= Single submitter
- p.Leu617= Single submitter
- p.Phe1069= Single submitter
- p.Phe959= Single submitter
- p.Ser1151= Single submitter
- p.Ser791= Single submitter
- p.Thr1098= Single submitter
- p.Thr1410= Single submitter
- p.Thr390= Single submitter
- p.Tyr924= Single submitter
- p.Val1202= Single submitter
- p.Val1323Met Single submitter
- c.1396-8C>A No assertion criteria INO80-related disorder
- c.928-14GTT[2] No assertion criteria INO80-related disorder
- p.Ala1461= No assertion criteria INO80-related disorder
- p.Leu679= No assertion criteria INO80-related disorder
- p.Phe1009= No assertion criteria INO80-related disorder
- p.Ser1154= No assertion criteria INO80-related disorder
- p.Ser1332Leu No assertion criteria INO80-related disorder
- p.Ser1406= No assertion criteria INO80-related disorder
- p.Thr1534Ile No assertion criteria INO80-related disorder
- p.Thr38= No assertion criteria INO80-related disorder
Uncertain significance 161
- p.Ala1340Pro Multiple submitters INO80-related disorder ⚠
- p.Ala1388Pro Multiple submitters ⚠
- p.Arg1029Gly Multiple submitters INO80-related disorder ⚠
- p.Leu906Val Multiple submitters INO80-related disorder ⚠
- c.873+2T>C Single submitter
- p.Ala1013Gly Single submitter ⚠
- p.Ala1401Thr Single submitter ⚠
- p.Ala1421Val Single submitter ⚠
- p.Ala1477Thr Single submitter INO80-related disorder ⚠
- p.Ala1488Thr Single submitter ⚠
- p.Ala455Val Single submitter
- p.Ala464Gly Single submitter ⚠
- p.Ala473Gly Single submitter ⚠
- p.Ala484Thr Single submitter ⚠
- p.Ala561Gly Single submitter ⚠
- p.Ala7Val Single submitter ⚠
- p.Ala911Val Single submitter ⚠
- p.Arg1065Gln Single submitter ⚠
- p.Arg1065Gly Single submitter ⚠
- p.Arg1286Gly Single submitter ⚠
- p.Arg1286Trp Single submitter ⚠
- p.Arg1301Gln Single submitter ⚠
- p.Arg1395Gln Single submitter ⚠
- p.Arg1424Cys Single submitter ⚠
- p.Arg1431Ter Single submitter INO80-related disorder
- p.Arg1448Gln Single submitter ⚠
- p.Arg1448Trp Single submitter ⚠
- p.Arg1498Gln Single submitter ⚠
- p.Arg1498Pro Single submitter
- p.Arg1544Trp Single submitter ⚠
- p.Arg1556Trp Single submitter ⚠
- p.Arg202Gln Single submitter ⚠
- p.Arg230Leu Single submitter
- p.Arg242His Single submitter ⚠
- p.Arg276Gly Single submitter ⚠
- p.Arg278Lys Single submitter ⚠
- p.Arg335His Single submitter ⚠
- p.Arg338Cys Single submitter ⚠
- p.Arg338Gly Single submitter ⚠
- p.Arg36Gly Single submitter ⚠
- p.Arg401Cys Single submitter ⚠
- p.Arg465Gln Single submitter ⚠
- p.Arg482Gln Single submitter ⚠
- p.Arg846His Single submitter ⚠
- p.Arg851Gly Single submitter ⚠
- p.Arg851Lys Single submitter ⚠
- p.Arg859Trp Single submitter ⚠
- p.Arg862Ser Single submitter ⚠
- p.Arg8Thr Single submitter ⚠
- p.Arg942Thr Single submitter ⚠
- p.Arg991Gln Single submitter ⚠
- p.Arg991Trp Single submitter ⚠
- p.Asn1292Ser Single submitter ⚠
- p.Asn1337Ser Single submitter ⚠
- p.Asn43Ser Single submitter ⚠
- p.Asp10His Single submitter ⚠
- p.Asp1195Gly Single submitter ⚠
- p.Asp428Gly Single submitter ⚠
- p.Asp67Tyr Single submitter ⚠
- p.Asp858His Single submitter ⚠
- p.Cys1011Arg Single submitter ⚠
- p.Cys329Gly Single submitter
- p.Cys977Tyr Single submitter ⚠
- p.Gln1393Pro Single submitter ⚠
- p.Gln247Leu Single submitter ⚠
- p.Gln426His Single submitter ⚠
- p.Gln647Arg Single submitter ⚠
- p.Gln849Lys Single submitter ⚠
- p.Gln986His Single submitter ⚠
- p.Glu1032Gln Single submitter
- p.Glu1272Gly Single submitter INO80-related disorder ⚠
- p.Glu1311Asp Single submitter ⚠
- p.Glu134Asp Single submitter ⚠
- p.Gly100Arg Single submitter ⚠
- p.Gly1322Ser Single submitter ⚠
- p.Gly1322Val Single submitter ⚠
- p.Gly1425Cys Single submitter ⚠
- p.Gly1432Arg Single submitter ⚠
- p.Gly1501Ser Single submitter ⚠
- p.Gly1526Glu Single submitter ⚠
- p.Gly1549Ser Single submitter ⚠
- p.Gly1554Glu Single submitter ⚠
- p.Gly82Ser Single submitter ⚠
- p.Gly937Ala Single submitter ⚠
- p.His1426Gln Single submitter ⚠
- p.His312Tyr Single submitter ⚠
- p.His33Tyr Single submitter ⚠
- p.His446Tyr Single submitter ⚠
- p.His839Arg Single submitter ⚠
- p.His855Tyr Single submitter ⚠
- p.Ile129Val Single submitter ⚠
- p.Ile1327Thr Single submitter ⚠
- p.Ile1347Phe Single submitter ⚠
- p.Ile1371Asn Single submitter ⚠
- p.Ile1403Val Single submitter ⚠
- p.Ile894Thr Single submitter ⚠
- p.Leu1002Val Single submitter ⚠
- p.Leu1003Phe Single submitter ⚠
- p.Leu102Arg Single submitter ⚠
- p.Leu1109Arg Single submitter ⚠
- p.Leu1518Phe Single submitter ⚠
- p.Leu205Arg Single submitter ⚠
- p.Leu323Ser Single submitter ⚠
- p.Leu81Arg Single submitter ⚠
- p.Lys1435Thr Single submitter ⚠
- p.Lys209Arg Single submitter ⚠
- p.Lys227Glu Single submitter ⚠
- p.Lys253Arg Single submitter ⚠
- p.Lys265Ile Single submitter ⚠
- p.Lys486Asn Single submitter ⚠
- p.Lys519Asn Single submitter ⚠
- p.Met1145Ile Single submitter
- p.Met1353Val Single submitter ⚠
- p.Met1419Val Single submitter ⚠
- p.Met1533Ile Single submitter ⚠
- p.Met763Leu Single submitter ⚠
- p.Met806Leu Single submitter ⚠
- p.Phe1069Leu Single submitter ⚠
- p.Phe197Leu Single submitter ⚠
- p.Phe34Leu Single submitter ⚠
- p.Phe611= Single submitter
- p.Phe831Leu Single submitter ⚠
- p.Phe831Tyr Single submitter
- p.Phe843Leu Single submitter ⚠
- p.Pro1091Ala Single submitter ⚠
- p.Pro1420Ala Single submitter ⚠
- p.Pro1434Ala Single submitter ⚠
- p.Pro1499Ala Single submitter ⚠
- p.Pro261Thr Single submitter ⚠
- p.Pro575Leu Single submitter ⚠
- p.Pro623Thr Single submitter
- p.Pro77Leu Single submitter ⚠
- p.Pro869Ser Single submitter ⚠
- p.Pro869Thr Single submitter ⚠
- p.Pro935Ser Single submitter ⚠
- p.Pro966Ala Single submitter ⚠
- p.Ser1014Arg Single submitter ⚠
- p.Ser1095Thr Single submitter ⚠
- p.Ser136Ile Single submitter ⚠
- p.Ser1452Cys Single submitter ⚠
- p.Ser1456Ile Single submitter
- p.Ser1511Thr Single submitter ⚠
- p.Ser1535Ile Single submitter ⚠
- p.Ser923Ala Single submitter ⚠
- p.Ser97Phe Single submitter ⚠
- p.Ser997Leu Single submitter ⚠
- p.Thr1176Ile Single submitter ⚠
- p.Thr332Asn Single submitter ⚠
- p.Thr489Ala Single submitter ⚠
- p.Trp1077Cys Single submitter ⚠
- p.Tyr1194Cys Single submitter ⚠
- p.Tyr183Cys Single submitter ⚠
- p.Tyr194Cys Single submitter ⚠
- p.Val101Ile Single submitter ⚠
- p.Val1407Ile Single submitter ⚠
- p.Val1482Met Single submitter ⚠
- p.Val225Met Single submitter ⚠
- p.Val751Met Single submitter ⚠
- p.Val852Ala Single submitter ⚠
- p.Val863Phe Single submitter ⚠
- p.Arg482Trp No assertion criteria ⚠