AGAP1 — 371 ClinVar variants
All ClinVar germline AGAP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 196 flagged for review →
2 Conflicting · 33 Benign · 1 Benign/Likely benign · 125 Likely benign · 210 Uncertain significance
Full AGAP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 196
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.
Predictors lean, ClinVar uncertain 101
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AGAP1 p.Ala418Ser Uncertain significance Multiple submitters
- AGAP1 p.Ala52Ser Uncertain significance Multiple submitters
- AGAP1 p.Arg14Trp Uncertain significance Multiple submitters
- AGAP1 p.Arg313His Uncertain significance Multiple submitters
- AGAP1 p.Asp577Gly Uncertain significance Multiple submitters
- AGAP1 p.Gln310Arg Uncertain significance Multiple submitters
- AGAP1 p.Glu829Lys Uncertain significance Multiple submitters
- AGAP1 p.Gly343Ser Uncertain significance Multiple submitters
- AGAP1 p.Ile111Thr Uncertain significance Multiple submitters
- AGAP1 p.Pro520Arg Uncertain significance Multiple submitters
- AGAP1 p.Pro837Leu Uncertain significance Multiple submitters
- AGAP1 p.Ser700Leu Uncertain significance Multiple submitters
- AGAP1 p.Val112Ala Uncertain significance Multiple submitters
- AGAP1 p.Val502Ile Uncertain significance Multiple submitters
- AGAP1 p.Val795Leu Uncertain significance Multiple submitters
- AGAP1 p.Ala488Pro Uncertain significance Single submitter
- AGAP1 p.Ala524Thr Uncertain significance Single submitter
- AGAP1 p.Ala582Val Uncertain significance Single submitter
- AGAP1 p.Ala641Thr Uncertain significance Single submitter
- AGAP1 p.Ala785Val Uncertain significance Single submitter
- AGAP1 p.Ala835Asp Uncertain significance Single submitter
- AGAP1 p.Arg123Ile Uncertain significance Single submitter
- AGAP1 p.Arg14Gln Uncertain significance Single submitter
- AGAP1 p.Arg166Trp Uncertain significance Single submitter
- AGAP1 p.Arg294Leu Uncertain significance Single submitter
- AGAP1 p.Arg321Trp Uncertain significance Single submitter
- AGAP1 p.Arg36His Uncertain significance Single submitter
- AGAP1 p.Arg409Lys Uncertain significance Single submitter
- AGAP1 p.Arg47Gly Uncertain significance Single submitter
- AGAP1 p.Arg530Gln Uncertain significance Single submitter
- AGAP1 p.Arg602Trp Uncertain significance Single submitter
- AGAP1 p.Arg619His Uncertain significance Single submitter
- AGAP1 p.Arg662Gln Uncertain significance Single submitter
- AGAP1 p.Arg830His Uncertain significance Single submitter
- AGAP1 p.Asn26Asp Uncertain significance Single submitter
- AGAP1 p.Asn525Ser Uncertain significance Single submitter
- AGAP1 p.Asn633Ser Uncertain significance Single submitter
- AGAP1 p.Asn838Ser Uncertain significance Single submitter
- AGAP1 p.Asn843Ser Uncertain significance Single submitter
- AGAP1 p.Asp114Val Uncertain significance Single submitter
- AGAP1 p.Asp192Asn Uncertain significance Single submitter
- AGAP1 p.Asp758Glu Uncertain significance Single submitter
- AGAP1 p.Cys727Tyr Uncertain significance Single submitter
- AGAP1 p.Gln43Pro Uncertain significance Single submitter
- AGAP1 p.Gln5Glu Uncertain significance Single submitter
- AGAP1 p.Glu100Ala Uncertain significance Single submitter
- AGAP1 p.Glu170Lys Uncertain significance Single submitter
- AGAP1 p.Glu584Lys Uncertain significance Single submitter
- AGAP1 p.Glu595Lys Uncertain significance Single submitter
- AGAP1 p.Glu608Lys Uncertain significance Single submitter
- AGAP1 p.Glu646Lys Uncertain significance Single submitter
- AGAP1 p.Glu71Lys Uncertain significance Single submitter
- AGAP1 p.Gly407Arg Uncertain significance Single submitter
- AGAP1 p.Gly455Ser Uncertain significance Single submitter
- AGAP1 p.Gly780Arg Uncertain significance Single submitter
- AGAP1 p.Gly802Arg Uncertain significance Single submitter
- AGAP1 p.His385Gln Uncertain significance Single submitter
- AGAP1 p.His469Arg Uncertain significance Single submitter
- AGAP1 p.Ile141Thr Uncertain significance Single submitter
- AGAP1 p.Ile17Met Uncertain significance Single submitter
- AGAP1 p.Ile190Val Uncertain significance Single submitter
- AGAP1 p.Ile30Met Uncertain significance Single submitter
- AGAP1 p.Ile396Thr Uncertain significance Single submitter
- AGAP1 p.Ile674Thr Uncertain significance Single submitter
- AGAP1 p.Ile680Val Uncertain significance Single submitter
- AGAP1 p.Ile712Val Uncertain significance Single submitter
- AGAP1 p.Leu612Pro Uncertain significance Single submitter
- AGAP1 p.Lys675Arg Uncertain significance Single submitter
- AGAP1 p.Lys73Arg Uncertain significance Single submitter
- AGAP1 p.Met432Ile Uncertain significance Single submitter
- AGAP1 p.Met834Val Uncertain significance Single submitter
- AGAP1 p.Phe142Ser Uncertain significance Single submitter
- AGAP1 p.Phe142Val Uncertain significance Single submitter
- AGAP1 p.Phe57Ile Uncertain significance Single submitter
- AGAP1 p.Phe721Leu Uncertain significance Single submitter
- AGAP1 p.Pro25Ser Uncertain significance Single submitter
- AGAP1 p.Pro326Ala Uncertain significance Single submitter
- AGAP1 p.Pro411His Uncertain significance Single submitter
- AGAP1 p.Pro439Ala Uncertain significance Single submitter
- AGAP1 p.Pro519Ser Uncertain significance Single submitter
- AGAP1 p.Pro70Leu Uncertain significance Single submitter
- AGAP1 p.Pro837Arg Uncertain significance Single submitter
- AGAP1 p.Pro854Thr Uncertain significance Single submitter
- AGAP1 p.Ser360Trp Uncertain significance Single submitter
- AGAP1 p.Ser454Arg Uncertain significance Single submitter
- AGAP1 p.Ser544Ala Uncertain significance Single submitter
- AGAP1 p.Ser560Ala Uncertain significance Single submitter
- AGAP1 p.Ser607Asn Uncertain significance Single submitter
- AGAP1 p.Thr401Asn Uncertain significance Single submitter
- AGAP1 p.Thr402Ala Uncertain significance Single submitter
- AGAP1 p.Thr485Met Uncertain significance Single submitter
- AGAP1 p.Thr496Ala Uncertain significance Single submitter
- AGAP1 p.Thr728Ala Uncertain significance Single submitter
- AGAP1 p.Thr93Met Uncertain significance Single submitter
- AGAP1 p.Trp481Arg Uncertain significance Single submitter
- AGAP1 p.Tyr791Cys Uncertain significance Single submitter
- AGAP1 p.Tyr96Cys Uncertain significance Single submitter
- AGAP1 p.Val370Ile Uncertain significance Single submitter
- AGAP1 p.Val403Ala Uncertain significance Single submitter
- AGAP1 p.Val502Leu Uncertain significance Single submitter
- AGAP1 p.Val688Ile Uncertain significance Single submitter
Predictors split 94
The independent predictors disagree with each other — read with care.
- AGAP1 p.Ala809Ser Uncertain significance Multiple submitters
- AGAP1 p.Arg696Trp Uncertain significance Multiple submitters
- AGAP1 p.Arg770Cys Uncertain significance Multiple submitters
- AGAP1 p.Arg798Gln Uncertain significance Multiple submitters
- AGAP1 p.Glu628Lys Uncertain significance Multiple submitters
- AGAP1 p.Gly542Ser Uncertain significance Multiple submitters
- AGAP1 p.Gly769Ser Uncertain significance Multiple submitters
- AGAP1 p.His157Tyr Uncertain significance Multiple submitters
- AGAP1 p.His436Arg Uncertain significance Multiple submitters
- AGAP1 p.His623Leu Uncertain significance Multiple submitters
- AGAP1 p.Ile240Met Uncertain significance Multiple submitters
- AGAP1 p.Lys430Gln Uncertain significance Multiple submitters
- AGAP1 p.Pro520Ala Uncertain significance Multiple submitters
- AGAP1 p.Pro827Ser Uncertain significance Multiple submitters
- AGAP1 p.Thr571Met Uncertain significance Multiple submitters
- AGAP1 p.Thr572Met Uncertain significance Multiple submitters
- AGAP1 p.Val282Ile Uncertain significance Multiple submitters
- AGAP1 p.Val37Leu Uncertain significance Multiple submitters
- AGAP1 p.Ala163Thr Uncertain significance Single submitter
- AGAP1 p.Ala685Ser Uncertain significance Single submitter
- AGAP1 p.Ala741Thr Uncertain significance Single submitter
- AGAP1 p.Arg161Gln Uncertain significance Single submitter
- AGAP1 p.Arg294Gln Likely benign Single submitter
- AGAP1 p.Arg308Cys Uncertain significance Single submitter
- AGAP1 p.Arg314Gln Uncertain significance Single submitter
- AGAP1 p.Arg314Trp Uncertain significance Single submitter
- AGAP1 p.Arg696Gln Uncertain significance Single submitter
- AGAP1 p.Arg696Leu Uncertain significance Single submitter
- AGAP1 p.Arg710Trp Likely benign Single submitter
- AGAP1 p.Arg746Gln Uncertain significance Single submitter
- AGAP1 p.Arg778Cys Uncertain significance Single submitter
- AGAP1 p.Arg778His Uncertain significance Single submitter
- AGAP1 p.Arg810Gln Uncertain significance Single submitter
- AGAP1 p.Arg810Trp Uncertain significance Single submitter
- AGAP1 p.Arg830Leu Uncertain significance Single submitter
- AGAP1 p.Arg830Pro Uncertain significance Single submitter
- AGAP1 p.Arg846Trp Uncertain significance Single submitter
- AGAP1 p.Asn553Thr Uncertain significance Single submitter
- AGAP1 p.Asp191Asn Uncertain significance Single submitter
- AGAP1 p.Asp201Asn Uncertain significance Single submitter
- AGAP1 p.Asp466Asn Uncertain significance Single submitter
- AGAP1 p.Asp517Asn Uncertain significance Single submitter
- AGAP1 p.Asp541Asn Uncertain significance Single submitter
- AGAP1 p.Asp742Asn Uncertain significance Single submitter
- AGAP1 p.Asp819Asn Uncertain significance Single submitter
- AGAP1 p.Gln586Arg Uncertain significance Single submitter
- AGAP1 p.Glu683Lys Uncertain significance Single submitter
- AGAP1 p.Glu743Lys Uncertain significance Single submitter
- AGAP1 p.Glu759Lys Uncertain significance Single submitter
- AGAP1 p.Glu762Lys Likely benign Single submitter
- AGAP1 p.Gly272Val Uncertain significance Single submitter
- AGAP1 p.Gly323Glu Uncertain significance Single submitter
- AGAP1 p.Gly545Ser Uncertain significance Single submitter
- AGAP1 p.Gly563Ser Uncertain significance Single submitter
- AGAP1 p.Gly825Ser Uncertain significance Single submitter
- AGAP1 p.His264Tyr Likely benign Single submitter
- AGAP1 p.His49Gln Uncertain significance Single submitter
- AGAP1 p.His754Tyr Uncertain significance Single submitter
- AGAP1 p.Ile558Val Uncertain significance Single submitter
- AGAP1 p.Leu725Val Uncertain significance Single submitter
- AGAP1 p.Leu72Phe Uncertain significance Single submitter
- AGAP1 p.Lys328Gln Uncertain significance Single submitter
- AGAP1 p.Lys675Gln Uncertain significance Single submitter
- AGAP1 p.Met135Ile Uncertain significance Single submitter
- AGAP1 p.Met468Thr Uncertain significance Single submitter
- AGAP1 p.Met834Ile Uncertain significance Single submitter
- AGAP1 p.Pro102Leu Uncertain significance Single submitter
- AGAP1 p.Pro40Gln Uncertain significance Single submitter
- AGAP1 p.Pro518Leu Uncertain significance Single submitter
- AGAP1 p.Pro724Leu Uncertain significance Single submitter
- AGAP1 p.Ser251Asn Uncertain significance Single submitter
- AGAP1 p.Ser320Pro Conflicting Single submitter
- AGAP1 p.Ser490Leu Uncertain significance Single submitter
- AGAP1 p.Ser614Leu Uncertain significance Single submitter
- AGAP1 p.Ser622Cys Uncertain significance Single submitter
- AGAP1 p.Ser68Phe Uncertain significance Single submitter
- AGAP1 p.Thr168Met Uncertain significance Single submitter
- AGAP1 p.Thr206Met Uncertain significance Single submitter
- AGAP1 p.Thr288Asn Uncertain significance Single submitter
- AGAP1 p.Thr414Met Uncertain significance Single submitter
- AGAP1 p.Thr496Ile Uncertain significance Single submitter
- AGAP1 p.Thr604Met Uncertain significance Single submitter
- AGAP1 p.Thr697Met Uncertain significance Single submitter
- AGAP1 p.Thr704Pro Uncertain significance Single submitter
- AGAP1 p.Thr771Met Uncertain significance Single submitter
- AGAP1 p.Tyr165Cys Uncertain significance Single submitter
- AGAP1 p.Tyr573Cys Uncertain significance Single submitter
- AGAP1 p.Val143Ile Uncertain significance Single submitter
- AGAP1 p.Val155Ile Uncertain significance Single submitter
- AGAP1 p.Val255Ile Uncertain significance Single submitter
- AGAP1 p.Val307Ile Uncertain significance Single submitter
- AGAP1 p.Val377Met Uncertain significance Single submitter
- AGAP1 p.Val820Met Uncertain significance Single submitter
- AGAP1 p.Val832Met Benign Single submitter
All AGAP1 variants
Conflicting classifications of pathogenicity 2
- p.Ala193Thr Single submitter ⚠
- p.Ser320Pro Single submitter ⚠
Benign 33
- p.Asp794= Multiple submitters
- c.1051-20T>C Single submitter
- c.1051-30574_1051-30571dup Single submitter
- c.1156-7del Single submitter
- c.1484-14C>T Single submitter
- c.163+18T>C Single submitter
- c.1645+13C>T Single submitter
- c.1892-4G>A Single submitter
- c.2114+8C>T Single submitter
- c.223-14C>T Single submitter
- c.2370+13C>T Single submitter
- p.Ala131= Single submitter
- p.Ala805= Single submitter
- p.Arg294= Single submitter
- p.Arg662= Single submitter
- p.Asn217= Single submitter
- p.Asn44= Single submitter
- p.Asp758= Single submitter
- p.Cys826= Single submitter
- p.Glu125= Single submitter
- p.Leu246= Single submitter
- p.Leu666= Single submitter
- p.Pro283= Single submitter
- p.Pro406= Single submitter
- p.Pro70= Single submitter
- p.Pro837= Single submitter
- p.Ser342= Single submitter
- p.Thr168= Single submitter
- p.Thr319= Single submitter
- p.Thr771= Single submitter
- p.Thr796Met Single submitter
- p.Val671Ile Single submitter
- p.Val832Met Single submitter ⚠
Benign/Likely benign 1
- p.His754= Multiple submitters
Likely benign 125
- p.Ile190= Multiple submitters
- c.1051-16T>A Single submitter
- c.1051-16T>C Single submitter
- c.1051-7C>A Single submitter
- c.1156-18G>T Single submitter
- c.1156-20A>C Single submitter
- c.1484-12G>A Single submitter
- c.1484-20C>T Single submitter
- c.163+12G>C Single submitter
- c.163+7G>A Single submitter
- c.163+9C>T Single submitter
- c.164-11_164-9del Single submitter
- c.164-11C>G Single submitter
- c.164-14C>T Single submitter
- c.164-19G>C Single submitter
- c.164-38536G>T Single submitter
- c.1645+11C>G Single submitter
- c.1645+11C>T Single submitter
- c.1645+12G>C Single submitter
- c.1646-10dup Single submitter
- c.1646-17C>T Single submitter
- c.1646-7_1646-6del Single submitter
- c.1800+14C>T Single submitter
- c.1801-7T>C Single submitter
- c.1801-8G>A Single submitter
- c.1801-9C>T Single submitter
- c.1891+12C>T Single submitter
- c.1891+13G>A Single submitter
- c.1891+7G>A Single submitter
- c.1892-19T>C Single submitter
- c.2115-6T>C Single submitter
- c.222+20C>T Single submitter
- c.223-13G>A Single submitter
- c.223-17G>C Single submitter
- c.2370+17C>T Single submitter
- c.673+11G>A Single submitter
- c.673+7G>A Single submitter
- c.674-13G>T Single submitter
- c.674-15_674-12del Single submitter
- c.801+19G>A Single submitter
- c.802-20T>A Single submitter
- c.802-7A>T Single submitter
- p.Ala12= Single submitter
- p.Ala262= Single submitter
- p.Ala337= Single submitter
- p.Ala416= Single submitter
- p.Ala453Thr Single submitter
- p.Ala52= Single submitter
- p.Ala772= Single submitter
- p.Ala797= Single submitter
- p.Ala8= Single submitter
- p.Arg106= Single submitter
- p.Arg294Gln Single submitter ⚠
- p.Arg576= Single submitter
- p.Arg619= Single submitter
- p.Arg710Trp Single submitter ⚠
- p.Asn200= Single submitter
- p.Asn682= Single submitter
- p.Asp192= Single submitter
- p.Asp541= Single submitter
- p.Asp55= Single submitter
- p.Asp577= Single submitter
- p.Asp768= Single submitter
- p.Cys594= Single submitter
- p.Cys624= Single submitter
- p.Cys764= Single submitter
- p.Gln237= Single submitter
- p.Gln581= Single submitter
- p.Gln586= Single submitter
- p.Glu762= Single submitter
- p.Glu762Lys Single submitter ⚠
- p.Glu829= Single submitter
- p.Gly332= Single submitter
- p.Gly649= Single submitter
- p.Gly655= Single submitter
- p.Gly83Ser Single submitter
- p.His264Tyr Single submitter ⚠
- p.His529= Single submitter
- p.His567= Single submitter
- p.His801= Single submitter
- p.Ile583= Single submitter
- p.Ile680= Single submitter
- p.Leu146= Single submitter
- p.Leu238= Single submitter
- p.Leu372= Single submitter
- p.Leu516= Single submitter
- p.Leu543= Single submitter
- p.Leu637= Single submitter
- p.Leu664= Single submitter
- p.Lys331= Single submitter
- p.Phe556= Single submitter
- p.Phe57= Single submitter
- p.Pro187= Single submitter
- p.Ser169= Single submitter
- p.Ser254= Single submitter
- p.Ser257= Single submitter
- p.Ser536= Single submitter
- p.Ser607= Single submitter
- p.Ser659= Single submitter
- p.Ser85= Single submitter
- p.Thr178= Single submitter
- p.Thr210= Single submitter
- p.Thr268= Single submitter
- p.Thr303= Single submitter
- p.Thr305= Single submitter
- p.Thr379= Single submitter
- p.Thr414= Single submitter
- p.Thr571= Single submitter
- p.Thr572= Single submitter
- p.Thr604= Single submitter
- p.Thr697= Single submitter
- p.Thr728= Single submitter
- p.Thr747= Single submitter
- p.Thr796= Single submitter
- p.Thr93= Single submitter
- p.Tyr159= Single submitter
- p.Tyr208= Single submitter
- p.Tyr214= Single submitter
- p.Tyr369= Single submitter
- p.Tyr716= Single submitter
- p.Tyr824= Single submitter
- p.Val174= Single submitter
- p.Val189= Single submitter
- p.Val263= Single submitter
- p.Val671= Single submitter
Uncertain significance 210
- p.Ala418Ser Multiple submitters ⚠
- p.Ala52Ser Multiple submitters ⚠
- p.Ala570Gly Multiple submitters
- p.Ala809Ser Multiple submitters ⚠
- p.Arg14Trp Multiple submitters ⚠
- p.Arg313His Multiple submitters ⚠
- p.Arg696Trp Multiple submitters ⚠
- p.Arg770Cys Multiple submitters ⚠
- p.Arg798Gln Multiple submitters ⚠
- p.Asp577Gly Multiple submitters ⚠
- p.Gln310Arg Multiple submitters ⚠
- p.Glu628Lys Multiple submitters ⚠
- p.Glu829Lys Multiple submitters ⚠
- p.Gly343Ser Multiple submitters ⚠
- p.Gly542Ser Multiple submitters ⚠
- p.Gly769Ser Multiple submitters ⚠
- p.His157Tyr Multiple submitters ⚠
- p.His436Arg Multiple submitters ⚠
- p.His623Leu Multiple submitters ⚠
- p.Ile111Thr Multiple submitters ⚠
- p.Ile240Met Multiple submitters ⚠
- p.Lys430Gln Multiple submitters ⚠
- p.Pro520Ala Multiple submitters ⚠
- p.Pro520Arg Multiple submitters ⚠
- p.Pro827Ser Multiple submitters ⚠
- p.Pro837Leu Multiple submitters ⚠
- p.Ser700Leu Multiple submitters ⚠
- p.Thr571Met Multiple submitters ⚠
- p.Thr572Met Multiple submitters ⚠
- p.Val112Ala Multiple submitters ⚠
- p.Val282Ile Multiple submitters ⚠
- p.Val37Leu Multiple submitters ⚠
- p.Val502Ile Multiple submitters ⚠
- p.Val795Leu Multiple submitters ⚠
- c.1031_1050+10del Single submitter
- c.163+4A>T Single submitter
- c.1646-6T>C Single submitter AGAP1-related disorder
- c.222+4A>G Single submitter
- c.538+4A>G Single submitter
- c.802-3C>T Single submitter
- p.Ala163Thr Single submitter ⚠
- p.Ala488Pro Single submitter ⚠
- p.Ala524Thr Single submitter ⚠
- p.Ala582Val Single submitter ⚠
- p.Ala641Thr Single submitter ⚠
- p.Ala685Ser Single submitter ⚠
- p.Ala685Val Single submitter
- p.Ala741Thr Single submitter ⚠
- p.Ala785Val Single submitter ⚠
- p.Ala835Asp Single submitter ⚠
- p.Arg123Ile Single submitter ⚠
- p.Arg14Gln Single submitter ⚠
- p.Arg161Gln Single submitter ⚠
- p.Arg166Trp Single submitter ⚠
- p.Arg294Leu Single submitter ⚠
- p.Arg308Cys Single submitter ⚠
- p.Arg314Gln Single submitter ⚠
- p.Arg314Trp Single submitter ⚠
- p.Arg321Trp Single submitter ⚠
- p.Arg336Cys Single submitter
- p.Arg36His Single submitter ⚠
- p.Arg409Lys Single submitter ⚠
- p.Arg47Gly Single submitter ⚠
- p.Arg530Gln Single submitter ⚠
- p.Arg602Trp Single submitter ⚠
- p.Arg619His Single submitter ⚠
- p.Arg662Gln Single submitter ⚠
- p.Arg696Gln Single submitter ⚠
- p.Arg696Leu Single submitter ⚠
- p.Arg713His Single submitter
- p.Arg746Gln Single submitter ⚠
- p.Arg778Cys Single submitter ⚠
- p.Arg778His Single submitter ⚠
- p.Arg810Gln Single submitter ⚠
- p.Arg810Gly Single submitter
- p.Arg810Trp Single submitter ⚠
- p.Arg830His Single submitter ⚠
- p.Arg830Leu Single submitter ⚠
- p.Arg830Pro Single submitter ⚠
- p.Arg846Trp Single submitter ⚠
- p.Asn26Asp Single submitter ⚠
- p.Asn525Ser Single submitter ⚠
- p.Asn553Thr Single submitter ⚠
- p.Asn59Ser Single submitter
- p.Asn633Ser Single submitter ⚠
- p.Asn838Ser Single submitter ⚠
- p.Asn843Ser Single submitter ⚠
- p.Asp114Val Single submitter ⚠
- p.Asp191Asn Single submitter ⚠
- p.Asp192Asn Single submitter ⚠
- p.Asp201Asn Single submitter ⚠
- p.Asp466Asn Single submitter ⚠
- p.Asp517Asn Single submitter ⚠
- p.Asp541Asn Single submitter ⚠
- p.Asp742Asn Single submitter ⚠
- p.Asp758Glu Single submitter ⚠
- p.Asp819Asn Single submitter ⚠
- p.Cys727Tyr Single submitter ⚠
- p.Gln43Pro Single submitter ⚠
- p.Gln586Arg Single submitter ⚠
- p.Gln5Glu Single submitter ⚠
- p.Glu100Ala Single submitter ⚠
- p.Glu130fs Single submitter
- p.Glu170Lys Single submitter ⚠
- p.Glu584Lys Single submitter ⚠
- p.Glu595Lys Single submitter ⚠
- p.Glu608Lys Single submitter ⚠
- p.Glu646Lys Single submitter ⚠
- p.Glu683Lys Single submitter ⚠
- p.Glu71Lys Single submitter ⚠
- p.Glu743Lys Single submitter ⚠
- p.Glu759Lys Single submitter ⚠
- p.Gly272Val Single submitter ⚠
- p.Gly323Glu Single submitter ⚠
- p.Gly407Arg Single submitter ⚠
- p.Gly455Ser Single submitter ⚠
- p.Gly545Ser Single submitter ⚠
- p.Gly563Ser Single submitter ⚠
- p.Gly765Arg Single submitter
- p.Gly780Arg Single submitter ⚠
- p.Gly802Arg Single submitter ⚠
- p.Gly825Ser Single submitter ⚠
- p.His385Gln Single submitter ⚠
- p.His469Arg Single submitter ⚠
- p.His49Gln Single submitter ⚠
- p.His754Tyr Single submitter ⚠
- p.Ile141Thr Single submitter ⚠
- p.Ile17Met Single submitter ⚠
- p.Ile190Val Single submitter ⚠
- p.Ile240Thr Single submitter
- p.Ile30Met Single submitter ⚠
- p.Ile396Thr Single submitter ⚠
- p.Ile558Val Single submitter ⚠
- p.Ile674Thr Single submitter ⚠
- p.Ile680Val Single submitter ⚠
- p.Ile712fs Single submitter AGAP1-related disorder
- p.Ile712Val Single submitter ⚠
- p.Leu612Pro Single submitter ⚠
- p.Leu722Met Single submitter
- p.Leu725Val Single submitter ⚠
- p.Leu72Phe Single submitter ⚠
- p.Lys328Gln Single submitter ⚠
- p.Lys675Arg Single submitter ⚠
- p.Lys675Gln Single submitter ⚠
- p.Lys73Arg Single submitter ⚠
- p.Met135Ile Single submitter ⚠
- p.Met432Ile Single submitter ⚠
- p.Met468Thr Single submitter ⚠
- p.Met834Ile Single submitter ⚠
- p.Met834Val Single submitter ⚠
- p.Phe142Ser Single submitter ⚠
- p.Phe142Val Single submitter ⚠
- p.Phe57Ile Single submitter ⚠
- p.Phe721Leu Single submitter ⚠
- p.Pro102Leu Single submitter ⚠
- p.Pro25Ser Single submitter ⚠
- p.Pro326Ala Single submitter ⚠
- p.Pro40Gln Single submitter ⚠
- p.Pro411His Single submitter ⚠
- p.Pro439Ala Single submitter ⚠
- p.Pro514His Single submitter
- p.Pro518Leu Single submitter ⚠
- p.Pro519Ser Single submitter ⚠
- p.Pro70Leu Single submitter ⚠
- p.Pro724Leu Single submitter ⚠
- p.Pro837Arg Single submitter ⚠
- p.Pro854Thr Single submitter ⚠
- p.Ser251Asn Single submitter ⚠
- p.Ser360Trp Single submitter ⚠
- p.Ser454Arg Single submitter ⚠
- p.Ser490Leu Single submitter ⚠
- p.Ser544Ala Single submitter ⚠
- p.Ser560Ala Single submitter ⚠
- p.Ser607Asn Single submitter ⚠
- p.Ser614Leu Single submitter ⚠
- p.Ser622Cys Single submitter ⚠
- p.Ser68Phe Single submitter ⚠
- p.Thr168Met Single submitter ⚠
- p.Thr206Met Single submitter ⚠
- p.Thr288Asn Single submitter ⚠
- p.Thr401Asn Single submitter ⚠
- p.Thr402Ala Single submitter ⚠
- p.Thr414Met Single submitter ⚠
- p.Thr485Met Single submitter ⚠
- p.Thr496Ala Single submitter ⚠
- p.Thr496Ile Single submitter ⚠
- p.Thr604Met Single submitter ⚠
- p.Thr697Met Single submitter ⚠
- p.Thr704Pro Single submitter ⚠
- p.Thr728Ala Single submitter ⚠
- p.Thr771Met Single submitter ⚠
- p.Thr93Met Single submitter ⚠
- p.Trp481Arg Single submitter ⚠
- p.Trp566fs Single submitter
- p.Tyr165Cys Single submitter ⚠
- p.Tyr573Cys Single submitter ⚠
- p.Tyr791Cys Single submitter ⚠
- p.Tyr96Cys Single submitter ⚠
- p.Tyr96Ter Single submitter
- p.Val143Ile Single submitter ⚠
- p.Val155Ile Single submitter ⚠
- p.Val255Ile Single submitter ⚠
- p.Val307Ile Single submitter ⚠
- p.Val370Ile Single submitter ⚠
- p.Val377Met Single submitter ⚠
- p.Val37Ala Single submitter
- p.Val403Ala Single submitter ⚠
- p.Val502Leu Single submitter ⚠
- p.Val688Ile Single submitter ⚠
- p.Val820Met Single submitter ⚠