IQGAP1 — 167 ClinVar variants
All ClinVar germline IQGAP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 144 flagged for review →
6 Benign · 12 Likely benign · 149 Uncertain significance
Full IQGAP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 144
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 104
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- IQGAP1 p.Ala13Val Uncertain significance Single submitter
- IQGAP1 p.Ala1511Thr Uncertain significance Single submitter
- IQGAP1 p.Ala216Thr Uncertain significance Single submitter
- IQGAP1 p.Ala308Thr Uncertain significance Single submitter
- IQGAP1 p.Ala382Val Uncertain significance Single submitter
- IQGAP1 p.Ala390Thr Uncertain significance Single submitter
- IQGAP1 p.Ala4Val Uncertain significance Single submitter
- IQGAP1 p.Arg1017Pro Uncertain significance Single submitter
- IQGAP1 p.Arg1024Gln Uncertain significance Single submitter
- IQGAP1 p.Arg1390His Uncertain significance Single submitter
- IQGAP1 p.Arg1549Thr Uncertain significance Single submitter
- IQGAP1 p.Arg336Gln Uncertain significance Single submitter
- IQGAP1 p.Arg647His Uncertain significance Single submitter
- IQGAP1 p.Arg757Cys Uncertain significance Single submitter
- IQGAP1 p.Arg757His Uncertain significance Single submitter
- IQGAP1 p.Arg762Gln Uncertain significance Single submitter
- IQGAP1 p.Arg766Leu Uncertain significance Single submitter
- IQGAP1 p.Arg768Ser Uncertain significance Single submitter
- IQGAP1 p.Arg803His Uncertain significance Single submitter
- IQGAP1 p.Arg833Gln Uncertain significance Single submitter
- IQGAP1 p.Arg852Trp Uncertain significance Single submitter
- IQGAP1 p.Arg870Gln Uncertain significance Single submitter
- IQGAP1 p.Arg98Gln Uncertain significance Single submitter
- IQGAP1 p.Asn1352Ser Uncertain significance Single submitter
- IQGAP1 p.Asn1449Ile Uncertain significance Single submitter
- IQGAP1 p.Asn144Lys Uncertain significance Single submitter
- IQGAP1 p.Asn1583Thr Uncertain significance Single submitter
- IQGAP1 p.Asn488Ser Uncertain significance Single submitter
- IQGAP1 p.Asp1484Asn Uncertain significance Single submitter
- IQGAP1 p.Asp235Asn Uncertain significance Single submitter
- IQGAP1 p.Asp313Asn Uncertain significance Single submitter
- IQGAP1 p.Asp353Glu Uncertain significance Single submitter
- IQGAP1 p.Asp650Gly Uncertain significance Single submitter
- IQGAP1 p.Cys494Tyr Uncertain significance Single submitter
- IQGAP1 p.Gln1031Lys Uncertain significance Single submitter
- IQGAP1 p.Gln340Leu Uncertain significance Single submitter
- IQGAP1 p.Gln367Arg Uncertain significance Single submitter
- IQGAP1 p.Gln400Glu Uncertain significance Single submitter
- IQGAP1 p.Gln417Arg Uncertain significance Single submitter
- IQGAP1 p.Gln420Arg Uncertain significance Single submitter
- IQGAP1 p.Gln618Arg Uncertain significance Single submitter
- IQGAP1 p.Gln726Leu Uncertain significance Single submitter
- IQGAP1 p.Glu1180Asp Uncertain significance Single submitter
- IQGAP1 p.Glu1338Asp Uncertain significance Single submitter
- IQGAP1 p.Glu1375Asp Uncertain significance Single submitter
- IQGAP1 p.Glu1402Asp Uncertain significance Single submitter
- IQGAP1 p.Glu1454Ala Uncertain significance Single submitter
- IQGAP1 p.Glu490Asp Uncertain significance Single submitter
- IQGAP1 p.Glu492Gly Uncertain significance Single submitter
- IQGAP1 p.Glu635Gly Uncertain significance Single submitter
- IQGAP1 p.Glu701Gln Uncertain significance Single submitter
- IQGAP1 p.Glu808Lys Uncertain significance Single submitter
- IQGAP1 p.Glu967Lys Uncertain significance Single submitter
- IQGAP1 p.Gly1188Val Uncertain significance Single submitter
- IQGAP1 p.Gly1401Ala Uncertain significance Single submitter
- IQGAP1 p.Gly608Asp Uncertain significance Single submitter
- IQGAP1 p.Gly758Arg Uncertain significance Single submitter
- IQGAP1 p.His835Arg Uncertain significance Single submitter
- IQGAP1 p.Ile1052Val Uncertain significance Single submitter
- IQGAP1 p.Ile1228Val Uncertain significance Single submitter
- IQGAP1 p.Ile126Val Uncertain significance Single submitter
-
IQGAP1 p.Ile1396Asn
Uncertain significance
Single submitter
IQGAP1-related disorder
- IQGAP1 p.Ile139Val Uncertain significance Single submitter
- IQGAP1 p.Ile1559Val Uncertain significance Single submitter
- IQGAP1 p.Ile1647Val Uncertain significance Single submitter
- IQGAP1 p.Ile205Leu Uncertain significance Single submitter
- IQGAP1 p.Ile395Thr Uncertain significance Single submitter
- IQGAP1 p.Ile516Leu Uncertain significance Single submitter
- IQGAP1 p.Ile729Val Uncertain significance Single submitter
- IQGAP1 p.Leu1131Arg Uncertain significance Single submitter
- IQGAP1 p.Leu1481Pro Uncertain significance Single submitter
- IQGAP1 p.Leu540Val Uncertain significance Single submitter
- IQGAP1 p.Leu68Met Uncertain significance Single submitter
- IQGAP1 p.Leu743Val Uncertain significance Single submitter
- IQGAP1 p.Lys104Arg Uncertain significance Single submitter
- IQGAP1 p.Lys1165Glu Uncertain significance Single submitter
- IQGAP1 p.Lys1477Asn Uncertain significance Single submitter
- IQGAP1 p.Lys1532Gln Uncertain significance Single submitter
- IQGAP1 p.Lys622Asn Uncertain significance Single submitter
- IQGAP1 p.Lys88Glu Uncertain significance Single submitter
- IQGAP1 p.Lys891Gln Uncertain significance Single submitter
- IQGAP1 p.Met1231Val Uncertain significance Single submitter
- IQGAP1 p.Met948Val Uncertain significance Single submitter
- IQGAP1 p.Phe1585Cys Uncertain significance Single submitter
- IQGAP1 p.Pro1372Arg Uncertain significance Single submitter
- IQGAP1 p.Pro253Ser Uncertain significance Single submitter
- IQGAP1 p.Pro711Thr Uncertain significance Single submitter
- IQGAP1 p.Pro865Leu Uncertain significance Single submitter
- IQGAP1 p.Ser1133Gly Uncertain significance Single submitter
- IQGAP1 p.Ser1133Thr Uncertain significance Single submitter
- IQGAP1 p.Ser1170Leu Uncertain significance Single submitter
- IQGAP1 p.Thr277Ala Uncertain significance Single submitter
- IQGAP1 p.Thr27Ser Uncertain significance Single submitter
- IQGAP1 p.Thr484Ile Uncertain significance Single submitter
- IQGAP1 p.Thr938Asn Uncertain significance Single submitter
- IQGAP1 p.Tyr429Cys Uncertain significance Single submitter
- IQGAP1 p.Tyr736Cys Uncertain significance Single submitter
- IQGAP1 p.Val1444Ile Uncertain significance Single submitter
- IQGAP1 p.Val20Ile Uncertain significance Single submitter
- IQGAP1 p.Val39Met Uncertain significance Single submitter
- IQGAP1 p.Val475Leu Uncertain significance Single submitter
- IQGAP1 p.Val575Met Uncertain significance Single submitter
- IQGAP1 p.Val714Leu Uncertain significance Single submitter
- IQGAP1 p.Val809Leu Uncertain significance Single submitter
Predictors split 40
The independent predictors disagree with each other — read with care.
- IQGAP1 p.Ala239Val Uncertain significance Single submitter
- IQGAP1 p.Ala308Val Uncertain significance Single submitter
- IQGAP1 p.Ala466Thr Uncertain significance Single submitter
- IQGAP1 p.Arg142Gly Uncertain significance Single submitter
- IQGAP1 p.Arg14Trp Uncertain significance Single submitter
- IQGAP1 p.Arg230His Likely benign Single submitter
- IQGAP1 p.Arg36Cys Uncertain significance Single submitter
- IQGAP1 p.Arg755Pro Uncertain significance Single submitter
- IQGAP1 p.Arg803Cys Uncertain significance Single submitter
- IQGAP1 p.Asn38Lys Uncertain significance Single submitter
- IQGAP1 p.Asp124Val Uncertain significance Single submitter
- IQGAP1 p.Asp471Gly Uncertain significance Single submitter
- IQGAP1 p.Glu252Lys Uncertain significance Single submitter
- IQGAP1 p.Gly1332Ser Uncertain significance Single submitter
- IQGAP1 p.Gly1656Arg Uncertain significance Single submitter
- IQGAP1 p.Gly693Arg Uncertain significance Single submitter
- IQGAP1 p.His527Pro Uncertain significance Single submitter
- IQGAP1 p.Ile990Val Uncertain significance Single submitter
- IQGAP1 p.Leu1122Arg Uncertain significance Single submitter
- IQGAP1 p.Leu1232Phe Uncertain significance Single submitter
- IQGAP1 p.Leu1450Val Uncertain significance Single submitter
- IQGAP1 p.Leu1469Pro Uncertain significance Single submitter
- IQGAP1 p.Leu1538Phe Uncertain significance Single submitter
- IQGAP1 p.Leu720Phe Uncertain significance Single submitter
- IQGAP1 p.Lys354Ile Uncertain significance Single submitter
- IQGAP1 p.Lys505Asn Uncertain significance Single submitter
- IQGAP1 p.Lys675Glu Uncertain significance Single submitter
- IQGAP1 p.Met1438Ile Uncertain significance Single submitter
-
IQGAP1 p.Met185Val
Uncertain significance
Single submitter
IQGAP1-related disorder
- IQGAP1 p.Met196Ile Uncertain significance Single submitter
- IQGAP1 p.Met456Leu Uncertain significance Single submitter
-
IQGAP1 p.Met456Thr
Uncertain significance
Single submitter
IQGAP1-associated immune condition
- IQGAP1 p.Phe84Tyr Uncertain significance Single submitter
- IQGAP1 p.Pro414His Uncertain significance Single submitter
- IQGAP1 p.Ser1036Leu Uncertain significance Single submitter
- IQGAP1 p.Ser1134Cys Uncertain significance Single submitter
- IQGAP1 p.Ser730Cys Uncertain significance Single submitter
- IQGAP1 p.Tyr17Cys Uncertain significance Single submitter
- IQGAP1 p.Tyr759Cys Uncertain significance Single submitter
-
IQGAP1 p.Met1231Ile
Likely benign
No assertion criteria
IQGAP1-related disorder
All IQGAP1 variants
Benign 6
- c.390+5C>T Multiple submitters
- p.Glu1326= Multiple submitters
- c.2785-4A>G Single submitter
- p.Ile261Val Single submitter
- p.Tyr258= Single submitter
- p.Val1294Ile Single submitter
Likely benign 12
- p.Arg230His Single submitter ⚠
- p.Arg438Gln Single submitter
- p.Asp124Gly Single submitter
- p.Ile312Val Single submitter
- p.Leu1331= Single submitter
- p.Phe306Leu Single submitter
- p.Ser1036= Single submitter
- p.Ser902= Single submitter
- p.Thr1359= Single submitter
- p.Val1504= Single submitter
- p.Arg1487Lys No assertion criteria IQGAP1-related disorder
- p.Met1231Ile No assertion criteria IQGAP1-related disorder ⚠
Uncertain significance 149
- c.2179-2A>T Single submitter
- p.Ala13Val Single submitter ⚠
- p.Ala1511Thr Single submitter ⚠
- p.Ala216Thr Single submitter ⚠
- p.Ala239Val Single submitter ⚠
- p.Ala308Thr Single submitter ⚠
- p.Ala308Val Single submitter ⚠
- p.Ala382Val Single submitter ⚠
- p.Ala390Thr Single submitter ⚠
- p.Ala466Thr Single submitter ⚠
- p.Ala4Val Single submitter ⚠
- p.Arg1017Pro Single submitter ⚠
- p.Arg1024Gln Single submitter ⚠
- p.Arg1390His Single submitter ⚠
- p.Arg142Gly Single submitter ⚠
- p.Arg142Ter Single submitter
- p.Arg14Trp Single submitter ⚠
- p.Arg1549Thr Single submitter ⚠
- p.Arg336Gln Single submitter ⚠
- p.Arg36Cys Single submitter ⚠
- p.Arg647His Single submitter ⚠
- p.Arg755Pro Single submitter ⚠
- p.Arg757Cys Single submitter ⚠
- p.Arg757His Single submitter ⚠
- p.Arg762Gln Single submitter ⚠
- p.Arg766Leu Single submitter ⚠
- p.Arg768Ser Single submitter ⚠
- p.Arg803Cys Single submitter ⚠
- p.Arg803His Single submitter ⚠
- p.Arg833Gln Single submitter ⚠
- p.Arg852Trp Single submitter ⚠
- p.Arg870Gln Single submitter ⚠
- p.Arg98Gln Single submitter ⚠
- p.Asn1352Ser Single submitter ⚠
- p.Asn1449Ile Single submitter ⚠
- p.Asn144Lys Single submitter ⚠
- p.Asn1583Thr Single submitter ⚠
- p.Asn38Lys Single submitter ⚠
- p.Asn488Ser Single submitter ⚠
- p.Asp124Val Single submitter ⚠
- p.Asp1484Asn Single submitter ⚠
- p.Asp235Asn Single submitter ⚠
- p.Asp313Asn Single submitter ⚠
- p.Asp353Glu Single submitter ⚠
- p.Asp471Gly Single submitter ⚠
- p.Asp650Gly Single submitter ⚠
- p.Cys494Tyr Single submitter ⚠
- p.Cys660Ter Single submitter
- p.Gln1031Lys Single submitter ⚠
- p.Gln340Leu Single submitter ⚠
- p.Gln367Arg Single submitter ⚠
- p.Gln400Glu Single submitter ⚠
- p.Gln417Arg Single submitter ⚠
- p.Gln420Arg Single submitter ⚠
- p.Gln618Arg Single submitter ⚠
- p.Gln726Leu Single submitter ⚠
- p.Glu1180Asp Single submitter ⚠
- p.Glu1338Asp Single submitter ⚠
- p.Glu1375Asp Single submitter ⚠
- p.Glu1402Asp Single submitter ⚠
- p.Glu1454Ala Single submitter ⚠
- p.Glu252Lys Single submitter ⚠
- p.Glu490Asp Single submitter ⚠
- p.Glu492Gly Single submitter ⚠
- p.Glu635Gly Single submitter ⚠
- p.Glu662Ter Single submitter
- p.Glu701Gln Single submitter ⚠
- p.Glu808Lys Single submitter ⚠
- p.Glu964Gln Single submitter
- p.Glu967Lys Single submitter ⚠
- p.Gly1188Val Single submitter ⚠
- p.Gly1332Ser Single submitter ⚠
- p.Gly1401Ala Single submitter ⚠
- p.Gly1656Arg Single submitter ⚠
- p.Gly608Asp Single submitter ⚠
- p.Gly693Arg Single submitter ⚠
- p.Gly758Arg Single submitter ⚠
- p.His527Pro Single submitter ⚠
- p.His835Arg Single submitter ⚠
- p.Ile1052Val Single submitter ⚠
- p.Ile1228Val Single submitter ⚠
- p.Ile126Val Single submitter ⚠
- p.Ile1396Asn Single submitter IQGAP1-related disorder ⚠
- p.Ile139Val Single submitter ⚠
- p.Ile1559Val Single submitter ⚠
- p.Ile1647Val Single submitter ⚠
- p.Ile205Leu Single submitter ⚠
- p.Ile395Thr Single submitter ⚠
- p.Ile516Leu Single submitter ⚠
- p.Ile729Val Single submitter ⚠
- p.Ile990Val Single submitter ⚠
- p.Leu1122Arg Single submitter ⚠
- p.Leu1131Arg Single submitter ⚠
- p.Leu1232Phe Single submitter ⚠
- p.Leu1450Val Single submitter ⚠
- p.Leu1469Pro Single submitter ⚠
- p.Leu1481Pro Single submitter ⚠
- p.Leu1538Phe Single submitter ⚠
- p.Leu540Val Single submitter ⚠
- p.Leu68Met Single submitter ⚠
- p.Leu720Phe Single submitter ⚠
- p.Leu743Val Single submitter ⚠
- p.Lys104Arg Single submitter ⚠
- p.Lys1165Glu Single submitter ⚠
- p.Lys1477Asn Single submitter ⚠
- p.Lys1532Gln Single submitter ⚠
- p.Lys354Ile Single submitter ⚠
- p.Lys505Asn Single submitter ⚠
- p.Lys622Asn Single submitter ⚠
- p.Lys675Glu Single submitter ⚠
- p.Lys88Glu Single submitter ⚠
- p.Lys891Gln Single submitter ⚠
- p.Met1231Val Single submitter ⚠
- p.Met1438Ile Single submitter ⚠
- p.Met185Val Single submitter IQGAP1-related disorder ⚠
- p.Met196Ile Single submitter ⚠
- p.Met456Leu Single submitter ⚠
- p.Met456Thr Single submitter IQGAP1-associated immune condition ⚠
- p.Met948Val Single submitter ⚠
- p.Phe1585Cys Single submitter ⚠
- p.Phe84Tyr Single submitter ⚠
- p.Pro1372Arg Single submitter ⚠
- p.Pro253Ser Single submitter ⚠
- p.Pro414His Single submitter ⚠
- p.Pro711Thr Single submitter ⚠
- p.Pro865Leu Single submitter ⚠
- p.Ser1036Leu Single submitter ⚠
- p.Ser1133Gly Single submitter ⚠
- p.Ser1133Thr Single submitter ⚠
- p.Ser1134Cys Single submitter ⚠
- p.Ser1170Leu Single submitter ⚠
- p.Ser730Cys Single submitter ⚠
- p.Thr277Ala Single submitter ⚠
- p.Thr27Ser Single submitter ⚠
- p.Thr484Ile Single submitter ⚠
- p.Thr733Ser Single submitter
- p.Thr938Asn Single submitter ⚠
- p.Tyr17Cys Single submitter ⚠
- p.Tyr429Cys Single submitter ⚠
- p.Tyr696Cys Single submitter
- p.Tyr736Cys Single submitter ⚠
- p.Tyr759Cys Single submitter ⚠
- p.Val1444Ile Single submitter ⚠
- p.Val20Ile Single submitter ⚠
- p.Val39Met Single submitter ⚠
- p.Val475Leu Single submitter ⚠
- p.Val575Met Single submitter ⚠
- p.Val714Leu Single submitter ⚠
- p.Val809Leu Single submitter ⚠