DIP2A — 268 ClinVar variants
All ClinVar germline DIP2A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 224 flagged for review →
2 Likely pathogenic · 2 Conflicting · 14 Benign · 1 Benign/Likely benign · 27 Likely benign · 222 Uncertain significance
Full DIP2A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 224
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 127
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DIP2A p.Ala676Thr Uncertain significance Multiple submitters
- DIP2A p.Glu832Lys Uncertain significance Multiple submitters
- DIP2A p.Ala1017Thr Uncertain significance Single submitter
- DIP2A p.Ala1031Thr Uncertain significance Single submitter
- DIP2A p.Ala1408Val Uncertain significance Single submitter
- DIP2A p.Ala15Pro Uncertain significance Single submitter
- DIP2A p.Ala194Pro Uncertain significance Single submitter
- DIP2A p.Ala204Thr Uncertain significance Single submitter
- DIP2A p.Ala208Val Uncertain significance Single submitter
- DIP2A p.Ala459Thr Uncertain significance Single submitter
- DIP2A p.Ala603Val Uncertain significance Single submitter
- DIP2A p.Ala960Ser Uncertain significance Single submitter
- DIP2A p.Ala973Thr Uncertain significance Single submitter
- DIP2A p.Arg1107Gln Uncertain significance Single submitter
- DIP2A p.Arg1189Trp Uncertain significance Single submitter
- DIP2A p.Arg1448Gln Uncertain significance Single submitter
- DIP2A p.Arg147Gln Uncertain significance Single submitter
- DIP2A p.Arg148Gln Uncertain significance Single submitter
- DIP2A p.Arg151Gln Uncertain significance Single submitter
- DIP2A p.Arg169Gln Uncertain significance Single submitter
- DIP2A p.Arg48His Uncertain significance Single submitter
- DIP2A p.Arg4Gly Uncertain significance Single submitter
- DIP2A p.Arg537Gln Uncertain significance Single submitter
- DIP2A p.Arg574Gly Uncertain significance Single submitter
- DIP2A p.Arg602Gln Uncertain significance Single submitter
- DIP2A p.Arg65Gly Uncertain significance Single submitter
- DIP2A p.Arg689Thr Uncertain significance Single submitter
- DIP2A p.Arg862Leu Uncertain significance Single submitter
- DIP2A p.Arg862Trp Uncertain significance Single submitter
- DIP2A p.Arg93Leu Uncertain significance Single submitter
- DIP2A p.Arg982Gln Uncertain significance Single submitter
- DIP2A p.Asn1495Ser Uncertain significance Single submitter
- DIP2A p.Asn1543Ser Uncertain significance Single submitter
- DIP2A p.Asn696Lys Uncertain significance Single submitter
- DIP2A p.Asn727Lys Uncertain significance Single submitter
- DIP2A p.Asn768Ser Uncertain significance Single submitter
- DIP2A p.Asn820Ser Uncertain significance Single submitter
- DIP2A p.Asn898Ser Uncertain significance Single submitter
- DIP2A p.Asp1336Val Uncertain significance Single submitter
- DIP2A p.Asp168Asn Uncertain significance Single submitter
- DIP2A p.Asp57Val Uncertain significance Single submitter
- DIP2A p.Asp636Asn Uncertain significance Single submitter
- DIP2A p.Asp706Asn Uncertain significance Single submitter
- DIP2A p.Asp799Glu Uncertain significance Single submitter
- DIP2A p.Gln1561Arg Uncertain significance Single submitter
- DIP2A p.Gln172His Uncertain significance Single submitter
- DIP2A p.Gln54Arg Uncertain significance Single submitter
- DIP2A p.Gln654Lys Uncertain significance Single submitter
- DIP2A p.Glu213Lys Uncertain significance Single submitter
- DIP2A p.Glu708Asp Uncertain significance Single submitter
- DIP2A p.Glu971Asp Uncertain significance Single submitter
- DIP2A p.Glu9Asp Uncertain significance Single submitter
- DIP2A p.Gly1081Ser Uncertain significance Single submitter
- DIP2A p.Gly150Glu Uncertain significance Single submitter
- DIP2A p.Gly202Glu Uncertain significance Single submitter
- DIP2A p.Gly211Val Uncertain significance Single submitter
- DIP2A p.Gly359Glu Uncertain significance Single submitter
- DIP2A p.Gly37Arg Uncertain significance Single submitter
- DIP2A p.Gly417Ala Uncertain significance Single submitter
- DIP2A p.Gly520Asp Uncertain significance Single submitter
- DIP2A p.Gly620Ser Uncertain significance Single submitter
- DIP2A p.Gly697Ser Uncertain significance Single submitter
- DIP2A p.Gly797Arg Uncertain significance Single submitter
- DIP2A p.Gly810Arg Uncertain significance Single submitter
- DIP2A p.His1410Gln Uncertain significance Single submitter
- DIP2A p.His1525Tyr Uncertain significance Single submitter
- DIP2A p.His186Pro Uncertain significance Single submitter
- DIP2A p.His234Arg Uncertain significance Single submitter
- DIP2A p.Ile1161Met Uncertain significance Single submitter
- DIP2A p.Ile1426Asn Uncertain significance Single submitter
- DIP2A p.Ile56Thr Uncertain significance Single submitter
- DIP2A p.Ile782Met Uncertain significance Single submitter
- DIP2A p.Leu1462Gln Uncertain significance Single submitter
- DIP2A p.Leu481Pro Uncertain significance Single submitter
- DIP2A p.Leu711Phe Uncertain significance Single submitter
- DIP2A p.Leu733Ser Uncertain significance Single submitter
- DIP2A p.Lys1369Gln Uncertain significance Single submitter
- DIP2A p.Lys1378Arg Uncertain significance Single submitter
- DIP2A p.Lys741Gln Uncertain significance Single submitter
- DIP2A p.Lys741Glu Uncertain significance Single submitter
- DIP2A p.Met1034Ile Uncertain significance Single submitter
- DIP2A p.Met113Leu Uncertain significance Single submitter
- DIP2A p.Met412Val Uncertain significance Single submitter
- DIP2A p.Met611Val Uncertain significance Single submitter
- DIP2A p.Met631Val Uncertain significance Single submitter
- DIP2A p.Met723Ile Uncertain significance Single submitter
- DIP2A p.Met874Thr Uncertain significance Single submitter
- DIP2A p.Pro156Leu Uncertain significance Single submitter
- DIP2A p.Pro201Leu Uncertain significance Single submitter
- DIP2A p.Pro240Leu Uncertain significance Single submitter
- DIP2A p.Pro332Leu Uncertain significance Single submitter
- DIP2A p.Pro333Leu Uncertain significance Single submitter
- DIP2A p.Pro480Leu Uncertain significance Single submitter
- DIP2A p.Pro640Leu Uncertain significance Single submitter
- DIP2A p.Pro681Leu Uncertain significance Single submitter
- DIP2A p.Pro904Ser Uncertain significance Single submitter
- DIP2A p.Ser1234Leu Uncertain significance Single submitter
- DIP2A p.Ser235Leu Uncertain significance Single submitter
- DIP2A p.Thr1125Ile Uncertain significance Single submitter
- DIP2A p.Thr326Pro Uncertain significance Single submitter
- DIP2A p.Thr456Ile Uncertain significance Single submitter
- DIP2A p.Thr674Ile Uncertain significance Single submitter
- DIP2A p.Thr757Arg Uncertain significance Single submitter
- DIP2A p.Thr98Ser Uncertain significance Single submitter
- DIP2A p.Trp166Gly Uncertain significance Single submitter
- DIP2A p.Tyr1400Asp Uncertain significance Single submitter
- DIP2A p.Val101Met Uncertain significance Single submitter
- DIP2A p.Val1053Met Uncertain significance Single submitter
- DIP2A p.Val1229Met Uncertain significance Single submitter
- DIP2A p.Val1243Ile Uncertain significance Single submitter
- DIP2A p.Val124Ala Uncertain significance Single submitter
- DIP2A p.Val1403Ile Uncertain significance Single submitter
- DIP2A p.Val1455Ile Uncertain significance Single submitter
- DIP2A p.Val1517Met Uncertain significance Single submitter
- DIP2A p.Val170Ala Uncertain significance Single submitter
- DIP2A p.Val232Met Uncertain significance Single submitter
- DIP2A p.Val263Ile Uncertain significance Single submitter
- DIP2A p.Val606Met Uncertain significance Single submitter
- DIP2A p.Val624Ile Uncertain significance Single submitter
- DIP2A p.Val813Ala Uncertain significance Single submitter
- DIP2A p.Val831Met Uncertain significance Single submitter
- DIP2A p.Val895Ala Uncertain significance Single submitter
- DIP2A p.Val955Met Uncertain significance Single submitter
-
DIP2A p.Ala1260Ser
Uncertain significance
No assertion criteria
DIP2A-related disorder
- DIP2A p.Asp809Gly Uncertain significance No assertion criteria
-
DIP2A p.Glu63Asp
Uncertain significance
No assertion criteria
DIP2A-related disorder
-
DIP2A p.Lys281Thr
Uncertain significance
No assertion criteria
DIP2A-related disorder
Predictors split 96
The independent predictors disagree with each other — read with care.
- DIP2A p.Pro798Leu Benign/Likely benign Multiple submitters
-
DIP2A p.Ala1026Ser
Uncertain significance
Single submitter
DIP2A-related disorder
- DIP2A p.Ala1116Val Uncertain significance Single submitter
- DIP2A p.Ala1170Val Uncertain significance Single submitter
- DIP2A p.Ala1174Thr Uncertain significance Single submitter
- DIP2A p.Ala1411Val Uncertain significance Single submitter
- DIP2A p.Ala1568Thr Uncertain significance Single submitter
- DIP2A p.Ala194Asp Uncertain significance Single submitter
- DIP2A p.Ala203Asp Uncertain significance Single submitter
- DIP2A p.Ala43Gly Uncertain significance Single submitter
- DIP2A p.Ala510Ser Uncertain significance Single submitter
- DIP2A p.Ala583Val Uncertain significance Single submitter
- DIP2A p.Ala604Thr Uncertain significance Single submitter
- DIP2A p.Ala604Val Uncertain significance Single submitter
- DIP2A p.Ala843Ser Uncertain significance Single submitter
- DIP2A p.Arg1350Trp Uncertain significance Single submitter
- DIP2A p.Arg1417Trp Uncertain significance Single submitter
- DIP2A p.Arg1448Trp Uncertain significance Single submitter
- DIP2A p.Arg147Trp Uncertain significance Single submitter
- DIP2A p.Arg169Trp Uncertain significance Single submitter
- DIP2A p.Arg282Ser Uncertain significance Single submitter
- DIP2A p.Arg285His Uncertain significance Single submitter
- DIP2A p.Arg373Gln Uncertain significance Single submitter
- DIP2A p.Arg4Cys Uncertain significance Single submitter
- DIP2A p.Arg537Trp Uncertain significance Single submitter
- DIP2A p.Arg854Trp Uncertain significance Single submitter
- DIP2A p.Arg876Cys Conflicting Single submitter
- DIP2A p.Arg916Cys Uncertain significance Single submitter
- DIP2A p.Arg916His Uncertain significance Single submitter
- DIP2A p.Arg93Trp Uncertain significance Single submitter
- DIP2A p.Asn1271Thr Uncertain significance Single submitter
- DIP2A p.Asn820Asp Uncertain significance Single submitter
- DIP2A p.Asp1412Asn Uncertain significance Single submitter
- DIP2A p.Asp979Asn Uncertain significance Single submitter
- DIP2A p.Cys536Gly Uncertain significance Single submitter
- DIP2A p.Glu110Lys Uncertain significance Single submitter
- DIP2A p.Glu27Lys Uncertain significance Single submitter
- DIP2A p.Glu298Lys Uncertain significance Single submitter
- DIP2A p.Gly1324Cys Uncertain significance Single submitter
- DIP2A p.His1044Tyr Uncertain significance Single submitter
- DIP2A p.His1342Arg Uncertain significance Single submitter
- DIP2A p.His1385Gln Uncertain significance Single submitter
-
DIP2A p.His1482Gln
Likely benign
Single submitter
autism spectrum disorder
- DIP2A p.Ile908Val Uncertain significance Single submitter
- DIP2A p.Ile954Thr Uncertain significance Single submitter
- DIP2A p.Leu1109Phe Uncertain significance Single submitter
- DIP2A p.Leu152Phe Uncertain significance Single submitter
- DIP2A p.Leu763Phe Uncertain significance Single submitter
- DIP2A p.Lys1378Thr Uncertain significance Single submitter
-
DIP2A p.Lys284Gln
Likely benign
Single submitter
autism spectrum disorder
- DIP2A p.Lys348Arg Uncertain significance Single submitter
- DIP2A p.Lys388Glu Uncertain significance Single submitter
- DIP2A p.Lys493Thr Uncertain significance Single submitter
- DIP2A p.Lys767Asn Uncertain significance Single submitter
- DIP2A p.Met1551Ile Uncertain significance Single submitter
- DIP2A p.Met929Leu Uncertain significance Single submitter
- DIP2A p.Pro332Arg Uncertain significance Single submitter
- DIP2A p.Pro347Arg Uncertain significance Single submitter
- DIP2A p.Pro51Leu Uncertain significance Single submitter
- DIP2A p.Pro686Leu Uncertain significance Single submitter
- DIP2A p.Pro774Leu Uncertain significance Single submitter
- DIP2A p.Pro833Ser Uncertain significance Single submitter
- DIP2A p.Pro941Arg Uncertain significance Single submitter
- DIP2A p.Pro999Ser Uncertain significance Single submitter
- DIP2A p.Ser1096Thr Uncertain significance Single submitter
- DIP2A p.Ser126Leu Uncertain significance Single submitter
- DIP2A p.Ser1309Asn Uncertain significance Single submitter
- DIP2A p.Ser184Leu Uncertain significance Single submitter
- DIP2A p.Ser267Arg Uncertain significance Single submitter
- DIP2A p.Ser866Leu Uncertain significance Single submitter
- DIP2A p.Thr1014Lys Uncertain significance Single submitter
- DIP2A p.Thr1129Ala Uncertain significance Single submitter
- DIP2A p.Thr153Ile Uncertain significance Single submitter
- DIP2A p.Thr200Met Uncertain significance Single submitter
- DIP2A p.Thr338Ile Uncertain significance Single submitter
- DIP2A p.Thr344Ala Uncertain significance Single submitter
- DIP2A p.Thr516Ala Uncertain significance Single submitter
- DIP2A p.Thr921Met Likely benign Single submitter
- DIP2A p.Tyr1334Cys Uncertain significance Single submitter
- DIP2A p.Tyr760Cys Uncertain significance Single submitter
- DIP2A p.Val1029Leu Uncertain significance Single submitter
- DIP2A p.Val1072Leu Uncertain significance Single submitter
- DIP2A p.Val1091Leu Uncertain significance Single submitter
- DIP2A p.Val1091Met Uncertain significance Single submitter
- DIP2A p.Val1118Met Uncertain significance Single submitter
- DIP2A p.Val1243Phe Uncertain significance Single submitter
- DIP2A p.Val1280Ala Uncertain significance Single submitter
- DIP2A p.Val1348Leu Uncertain significance Single submitter
- DIP2A p.Val527Leu Uncertain significance Single submitter
- DIP2A p.Val606Leu Uncertain significance Single submitter
- DIP2A p.Val719Ile Uncertain significance Single submitter
- DIP2A p.Val847Leu Uncertain significance Single submitter
- DIP2A p.Val889Met Uncertain significance Single submitter
-
DIP2A p.Arg602Trp
Uncertain significance
No assertion criteria
DIP2A-related disorder
-
DIP2A p.Ser1249Cys
Uncertain significance
No assertion criteria
DIP2A-related disorder
-
DIP2A p.Ser372Asn
Benign
No assertion criteria
DIP2A-related disorder
All DIP2A variants
Likely pathogenic 2
- c.1429+2T>G Single submitter autism spectrum disorder
- p.Ala726fs Single submitter autism spectrum disorder
Conflicting classifications of pathogenicity 2
- p.Arg341Cys Single submitter ⚠
- p.Arg876Cys Single submitter ⚠
Benign 14
- p.Pro333= Multiple submitters
- p.Thr848= Multiple submitters
- p.Val1531= Multiple submitters
- p.Asn1228= Single submitter
- p.Val163Ile Single submitter
- c.1708-5C>G No assertion criteria DIP2A-related disorder
- c.2840-8G>A No assertion criteria DIP2A-related disorder
- p.Ala1411= No assertion criteria DIP2A-related disorder
- p.Ile796= No assertion criteria DIP2A-related disorder
- p.Leu693= No assertion criteria DIP2A-related disorder
- p.Pro58= No assertion criteria DIP2A-related disorder
- p.Ser372Asn No assertion criteria DIP2A-related disorder ⚠
- p.Thr1083= No assertion criteria DIP2A-related disorder
- p.Thr921= No assertion criteria DIP2A-related disorder
Benign/Likely benign 1
- p.Pro798Leu Multiple submitters ⚠
Likely benign 27
- c.3388+10C>T Single submitter
- p.Ala635= Single submitter
- p.Ala86Thr Single submitter
- p.Asp458= Single submitter
- p.Gly1081= Single submitter
- p.His1482Gln Single submitter autism spectrum disorder ⚠
- p.Ile1485= Single submitter
- p.Ile428Thr Single submitter
- p.Lys284Gln Single submitter autism spectrum disorder ⚠
- p.Pro149= Single submitter
- p.Pro156= Single submitter
- p.Pro165= Single submitter
- p.Ser126= Single submitter
- p.Thr136= Single submitter
- p.Thr338Ala Single submitter
- p.Thr358Ala Single submitter
- p.Thr827= Single submitter
- p.Thr921Met Single submitter ⚠
- p.Val1140Ile Single submitter
- p.Val824Ile Single submitter
- c.1707+7G>A No assertion criteria DIP2A-related disorder
- c.2637+17G>A No assertion criteria long QT syndrome
- c.2637+29G>A No assertion criteria DIP2A-related disorder
- c.91+8G>A No assertion criteria DIP2A-related disorder
- p.Asn696= No assertion criteria DIP2A-related disorder
- p.Thr1311= No assertion criteria DIP2A-related disorder
- p.Tyr1566= No assertion criteria DIP2A-related disorder
Uncertain significance 222
- p.Ala676Thr Multiple submitters ⚠
- p.Glu832Lys Multiple submitters ⚠
- c.2395-2A>G Single submitter
- p.Ala1017Thr Single submitter ⚠
- p.Ala1026Ser Single submitter DIP2A-related disorder ⚠
- p.Ala1031Thr Single submitter ⚠
- p.Ala1116Val Single submitter ⚠
- p.Ala1170Val Single submitter ⚠
- p.Ala1174Thr Single submitter ⚠
- p.Ala1408Val Single submitter ⚠
- p.Ala1411Val Single submitter ⚠
- p.Ala1568Thr Single submitter ⚠
- p.Ala15Pro Single submitter ⚠
- p.Ala194Asp Single submitter ⚠
- p.Ala194Pro Single submitter ⚠
- p.Ala203Asp Single submitter ⚠
- p.Ala204Thr Single submitter ⚠
- p.Ala208Val Single submitter ⚠
- p.Ala43Gly Single submitter ⚠
- p.Ala459Thr Single submitter ⚠
- p.Ala510Ser Single submitter ⚠
- p.Ala583Val Single submitter ⚠
- p.Ala603Val Single submitter ⚠
- p.Ala604Thr Single submitter ⚠
- p.Ala604Val Single submitter ⚠
- p.Ala843Ser Single submitter ⚠
- p.Ala960Ser Single submitter ⚠
- p.Ala973Thr Single submitter ⚠
- p.Arg1107Gln Single submitter ⚠
- p.Arg1189Trp Single submitter ⚠
- p.Arg1350Trp Single submitter ⚠
- p.Arg1417Trp Single submitter ⚠
- p.Arg1448Gln Single submitter ⚠
- p.Arg1448Trp Single submitter ⚠
- p.Arg147Gln Single submitter ⚠
- p.Arg147Trp Single submitter ⚠
- p.Arg148Gln Single submitter ⚠
- p.Arg151Gln Single submitter ⚠
- p.Arg169Gln Single submitter ⚠
- p.Arg169Trp Single submitter ⚠
- p.Arg282Ser Single submitter ⚠
- p.Arg285His Single submitter ⚠
- p.Arg373Gln Single submitter ⚠
- p.Arg48His Single submitter ⚠
- p.Arg4Cys Single submitter ⚠
- p.Arg4Gly Single submitter ⚠
- p.Arg537Gln Single submitter ⚠
- p.Arg537Trp Single submitter ⚠
- p.Arg559= Single submitter
- p.Arg574Gly Single submitter ⚠
- p.Arg602Gln Single submitter ⚠
- p.Arg65Gly Single submitter ⚠
- p.Arg689Thr Single submitter ⚠
- p.Arg854Trp Single submitter ⚠
- p.Arg862Leu Single submitter ⚠
- p.Arg862Trp Single submitter ⚠
- p.Arg916Cys Single submitter ⚠
- p.Arg916His Single submitter ⚠
- p.Arg93Leu Single submitter ⚠
- p.Arg93Trp Single submitter ⚠
- p.Arg982Gln Single submitter ⚠
- p.Asn1271Thr Single submitter ⚠
- p.Asn1495Ser Single submitter ⚠
- p.Asn1543Ser Single submitter ⚠
- p.Asn696Lys Single submitter ⚠
- p.Asn727Lys Single submitter ⚠
- p.Asn768Ser Single submitter ⚠
- p.Asn820Asp Single submitter ⚠
- p.Asn820Ser Single submitter ⚠
- p.Asn898Ser Single submitter ⚠
- p.Asp1336Val Single submitter ⚠
- p.Asp1412Asn Single submitter ⚠
- p.Asp168Asn Single submitter ⚠
- p.Asp57Val Single submitter ⚠
- p.Asp636Asn Single submitter ⚠
- p.Asp706Asn Single submitter ⚠
- p.Asp799Glu Single submitter ⚠
- p.Asp979Asn Single submitter ⚠
- p.Cys536Gly Single submitter ⚠
- p.Gln1561Arg Single submitter ⚠
- p.Gln172His Single submitter ⚠
- p.Gln54Arg Single submitter ⚠
- p.Gln654Lys Single submitter ⚠
- p.Glu110Lys Single submitter ⚠
- p.Glu213Lys Single submitter ⚠
- p.Glu27Lys Single submitter ⚠
- p.Glu298Lys Single submitter ⚠
- p.Glu708Asp Single submitter ⚠
- p.Glu971Asp Single submitter ⚠
- p.Glu9Asp Single submitter ⚠
- p.Gly1081Ser Single submitter ⚠
- p.Gly1324Cys Single submitter ⚠
- p.Gly150Glu Single submitter ⚠
- p.Gly202Glu Single submitter ⚠
- p.Gly211Val Single submitter ⚠
- p.Gly359Glu Single submitter ⚠
- p.Gly37Arg Single submitter ⚠
- p.Gly417Ala Single submitter ⚠
- p.Gly477= Single submitter long QT syndrome
- p.Gly520Asp Single submitter ⚠
- p.Gly620Ser Single submitter ⚠
- p.Gly697Ser Single submitter ⚠
- p.Gly797Arg Single submitter ⚠
- p.Gly810Arg Single submitter ⚠
- p.His1044Tyr Single submitter ⚠
- p.His1342Arg Single submitter ⚠
- p.His1385Gln Single submitter ⚠
- p.His1410Gln Single submitter ⚠
- p.His1525Tyr Single submitter ⚠
- p.His186Pro Single submitter ⚠
- p.His234Arg Single submitter ⚠
- p.Ile1161Met Single submitter ⚠
- p.Ile1426Asn Single submitter ⚠
- p.Ile56Thr Single submitter ⚠
- p.Ile782Met Single submitter ⚠
- p.Ile908Val Single submitter ⚠
- p.Ile954Thr Single submitter ⚠
- p.Leu1109Phe Single submitter ⚠
- p.Leu1462Gln Single submitter ⚠
- p.Leu152Phe Single submitter ⚠
- p.Leu481Pro Single submitter ⚠
- p.Leu711Phe Single submitter ⚠
- p.Leu733Ser Single submitter ⚠
- p.Leu763Phe Single submitter ⚠
- p.Lys1369Gln Single submitter ⚠
- p.Lys1378Arg Single submitter ⚠
- p.Lys1378Thr Single submitter ⚠
- p.Lys348Arg Single submitter ⚠
- p.Lys388Glu Single submitter ⚠
- p.Lys493Thr Single submitter ⚠
- p.Lys741Gln Single submitter ⚠
- p.Lys741Glu Single submitter ⚠
- p.Lys767Asn Single submitter ⚠
- p.Met1034Ile Single submitter ⚠
- p.Met113Leu Single submitter ⚠
- p.Met1551Ile Single submitter ⚠
- p.Met412Val Single submitter ⚠
- p.Met611Val Single submitter ⚠
- p.Met631Val Single submitter ⚠
- p.Met723Ile Single submitter ⚠
- p.Met874Thr Single submitter ⚠
- p.Met929Leu Single submitter ⚠
- p.Pro156Leu Single submitter ⚠
- p.Pro201Leu Single submitter ⚠
- p.Pro240Leu Single submitter ⚠
- p.Pro332Arg Single submitter ⚠
- p.Pro332Leu Single submitter ⚠
- p.Pro333Leu Single submitter ⚠
- p.Pro347Arg Single submitter ⚠
- p.Pro480Leu Single submitter ⚠
- p.Pro51Leu Single submitter ⚠
- p.Pro640Leu Single submitter ⚠
- p.Pro681Leu Single submitter ⚠
- p.Pro686Leu Single submitter ⚠
- p.Pro774Leu Single submitter ⚠
- p.Pro833Ser Single submitter ⚠
- p.Pro904Ser Single submitter ⚠
- p.Pro941Arg Single submitter ⚠
- p.Pro999Ser Single submitter ⚠
- p.Ser1096Thr Single submitter ⚠
- p.Ser1234Leu Single submitter ⚠
- p.Ser126Leu Single submitter ⚠
- p.Ser1309Asn Single submitter ⚠
- p.Ser184Leu Single submitter ⚠
- p.Ser235Leu Single submitter ⚠
- p.Ser267Arg Single submitter ⚠
- p.Ser866Leu Single submitter ⚠
- p.Thr1014Lys Single submitter ⚠
- p.Thr1125Ile Single submitter ⚠
- p.Thr1129Ala Single submitter ⚠
- p.Thr153Ile Single submitter ⚠
- p.Thr200Met Single submitter ⚠
- p.Thr326Pro Single submitter ⚠
- p.Thr338Ile Single submitter ⚠
- p.Thr344Ala Single submitter ⚠
- p.Thr456Ile Single submitter ⚠
- p.Thr516Ala Single submitter ⚠
- p.Thr674Ile Single submitter ⚠
- p.Thr757Arg Single submitter ⚠
- p.Thr98Ser Single submitter ⚠
- p.Trp166Gly Single submitter ⚠
- p.Tyr1334Cys Single submitter ⚠
- p.Tyr1400Asp Single submitter ⚠
- p.Tyr760Cys Single submitter ⚠
- p.Val101Met Single submitter ⚠
- p.Val1029Leu Single submitter ⚠
- p.Val1053Met Single submitter ⚠
- p.Val1072Leu Single submitter ⚠
- p.Val1091Leu Single submitter ⚠
- p.Val1091Met Single submitter ⚠
- p.Val1118Met Single submitter ⚠
- p.Val1229Met Single submitter ⚠
- p.Val1243Ile Single submitter ⚠
- p.Val1243Phe Single submitter ⚠
- p.Val124Ala Single submitter ⚠
- p.Val1280Ala Single submitter ⚠
- p.Val1348Leu Single submitter ⚠
- p.Val1403fs Single submitter DIP2A-related disorder
- p.Val1403Ile Single submitter ⚠
- p.Val1455Ile Single submitter ⚠
- p.Val1517Met Single submitter ⚠
- p.Val170Ala Single submitter ⚠
- p.Val232Met Single submitter ⚠
- p.Val263Ile Single submitter ⚠
- p.Val527Leu Single submitter ⚠
- p.Val606Leu Single submitter ⚠
- p.Val606Met Single submitter ⚠
- p.Val624Ile Single submitter ⚠
- p.Val719Ile Single submitter ⚠
- p.Val813Ala Single submitter ⚠
- p.Val831Met Single submitter ⚠
- p.Val847Leu Single submitter ⚠
- p.Val889Met Single submitter ⚠
- p.Val895Ala Single submitter ⚠
- p.Val955Met Single submitter ⚠
- c.2637+25G>T No assertion criteria DIP2A-related disorder
- p.Ala1260Ser No assertion criteria DIP2A-related disorder ⚠
- p.Arg602Trp No assertion criteria DIP2A-related disorder ⚠
- p.Asp809Gly No assertion criteria ⚠
- p.Glu63Asp No assertion criteria DIP2A-related disorder ⚠
- p.Lys281Thr No assertion criteria DIP2A-related disorder ⚠
- p.Ser1249Cys No assertion criteria DIP2A-related disorder ⚠