AGAP2 — 159 ClinVar variants

All ClinVar germline AGAP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.

3 Benign · 15 Likely benign · 141 Uncertain significance

Full AGAP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

All AGAP2 variants

Benign 3

p.Val527= Multiple submitters
p.Glu438Gln No assertion criteria AGAP2-related disorder
p.Leu582= No assertion criteria AGAP2-related disorder

Likely benign 15

p.Ala92Thr Single submitter
p.Arg53= Single submitter
p.Ile945Thr Single submitter
p.Pro389= Single submitter
p.Thr809= Single submitter
p.Ala11Val No assertion criteria AGAP2-related disorder
p.Gln598= No assertion criteria AGAP2-related disorder
p.Gly507Ser No assertion criteria AGAP2-related disorder
p.His1096= No assertion criteria AGAP2-related disorder
p.Met446Thr No assertion criteria AGAP2-related disorder
p.Pro129= No assertion criteria AGAP2-related disorder
p.Pro326= No assertion criteria AGAP2-related disorder
p.Pro782= No assertion criteria AGAP2-related disorder
p.Ser821= No assertion criteria AGAP2-related disorder
p.Val983= No assertion criteria AGAP2-related disorder

Uncertain significance 141

p.Leu210Gln Multiple submitters
p.Ala1045Glu Single submitter
p.Ala1156Thr Single submitter
p.Ala1161Val Single submitter
p.Ala116Asp Single submitter
p.Ala1180Thr Single submitter
p.Ala1187Asp Single submitter
p.Ala228Val Single submitter
p.Ala237Thr Single submitter
p.Ala260Asp Single submitter
p.Ala262Ser Single submitter
p.Ala36Glu Single submitter
p.Ala38Val Single submitter
p.Ala534Asp Single submitter
p.Ala578Val Single submitter
p.Ala58Thr Single submitter
p.Ala596Ser Single submitter
p.Ala628Thr Single submitter
p.Ala804Val Single submitter
p.Ala96Val Single submitter
p.Ala98Gly Single submitter
p.Arg110Cys Single submitter
p.Arg11Pro Single submitter
p.Arg158Pro Single submitter
p.Arg17Thr Single submitter
p.Arg220Lys Single submitter
p.Arg28His Single submitter
p.Arg342Ser Single submitter
p.Arg402His Single submitter
p.Arg505Gln Single submitter
p.Arg570His Single submitter
p.Arg68His Single submitter
p.Arg739Gln Single submitter
p.Arg805Gln Single submitter
p.Asp1005Tyr Single submitter
p.Asp1066Glu Single submitter
p.Asp1141His Single submitter
p.Asp759Asn Single submitter
p.Asp990Val Single submitter
p.Gln1063Glu Single submitter
p.Gln935Lys Single submitter
p.Glu1031Asp Single submitter
p.Glu1087Asp Single submitter
p.Glu154Asp Single submitter
p.Glu438Asp Single submitter
p.Glu60Asp Single submitter
p.Glu930Gln Single submitter
p.Gly109Asp Single submitter
p.Gly1124Ser Single submitter
p.Gly201Ser Single submitter
p.Gly203Arg Single submitter
p.Gly203Asp Single submitter
p.Gly203Val Single submitter
p.Gly254Asp Single submitter
p.Gly257Arg Single submitter
p.Gly271Cys Single submitter
p.Gly314Arg Single submitter
p.Gly335Asp Single submitter
p.Gly335Ser Single submitter
p.Gly363Arg Single submitter
p.Gly410Ser Single submitter
p.Gly462Arg Single submitter AGAP2-related disorder
p.Gly507Ala Single submitter
p.Gly507Val Single submitter
p.Gly667Val Single submitter
p.Gly6Ser Single submitter
p.Gly723Ser Single submitter
p.Gly84Ser Single submitter
p.His1103Arg Single submitter
p.His1103Asp Single submitter
p.His282Pro Single submitter
p.His2Arg Single submitter
p.His453Tyr Single submitter
p.His640Arg Single submitter
p.His640Tyr Single submitter
p.Ile52Thr Single submitter
p.Leu1047Arg Single submitter
p.Leu1054Pro Single submitter
p.Leu112Phe Single submitter
p.Leu127Gln Single submitter
p.Leu16Phe Single submitter
p.Leu321Val Single submitter
p.Leu493Phe Single submitter
p.Leu803Val Single submitter
p.Leu8Val Single submitter
p.Leu910Pro Single submitter
p.Leu980Met Single submitter
p.Lys274Glu Single submitter
p.Lys343Asn Single submitter
p.Lys660Glu Single submitter
p.Lys798Gln Single submitter
p.Lys941Met Single submitter
p.Met765Thr Single submitter
p.Phe650Leu Single submitter
p.Pro103Leu Single submitter
p.Pro1053Gln Single submitter
p.Pro108Ser Single submitter
p.Pro131Leu Single submitter
p.Pro133Ala Single submitter
p.Pro153Gln Single submitter
p.Pro290Ala Single submitter
p.Pro292Thr Single submitter
p.Pro299Gln Single submitter
p.Pro299Ser Single submitter
p.Pro324Ala Single submitter
p.Pro324Ser Single submitter
p.Pro368Arg Single submitter
p.Pro828Ser Single submitter
p.Pro841Ala Single submitter
p.Ser1050Trp Single submitter
p.Ser1160Ile Single submitter
p.Ser1166Gly Single submitter
p.Ser149Thr Single submitter
p.Ser377Pro Single submitter
p.Ser44Gly Single submitter
p.Ser480Asn Single submitter
p.Ser486Gly Single submitter
p.Ser713Thr Single submitter
p.Ser781Gly Single submitter
p.Ser781Ile Single submitter
p.Ser81Thr Single submitter
p.Thr1158Arg Single submitter
p.Thr195Ser Single submitter
p.Thr49Ala Single submitter
p.Thr547Ser Single submitter
p.Thr772Ala Single submitter
p.Thr80Arg Single submitter
p.Thr925Ile Single submitter
p.Trp150Cys Single submitter
p.Trp212Arg Single submitter
p.Val1086Ala Single submitter
p.Val1104Ile Single submitter
p.Val36Met Single submitter
p.Val558Ile Single submitter
p.Val733Ile Single submitter
p.Val881Ala Single submitter AGAP2-related disorder
p.Val8Ile Single submitter
p.Val932Met Single submitter
p.Arg984Leu No assertion criteria AGAP2-related disorder
p.Gly162= No assertion criteria
p.Gly162Asp No assertion criteria