CADPS2 — 179 ClinVar variants
All ClinVar germline CADPS2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 154 flagged for review →
10 Benign · 19 Likely benign · 150 Uncertain significance
Full CADPS2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 154
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 99
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CADPS2 p.Ala145Thr Uncertain significance Single submitter
- CADPS2 p.Ala228Thr Uncertain significance Single submitter
- CADPS2 p.Ala266Thr Uncertain significance Single submitter
- CADPS2 p.Ala479Glu Uncertain significance Single submitter
- CADPS2 p.Ala774Pro Uncertain significance Single submitter
- CADPS2 p.Ala796Gly Uncertain significance Single submitter
- CADPS2 p.Ala859Thr Uncertain significance Single submitter
- CADPS2 p.Arg280Trp Uncertain significance Single submitter
- CADPS2 p.Arg31Gln Uncertain significance Single submitter
- CADPS2 p.Arg339Cys Uncertain significance Single submitter
- CADPS2 p.Arg508Cys Uncertain significance Single submitter
- CADPS2 p.Arg624Gly Uncertain significance Single submitter
- CADPS2 p.Arg624His Uncertain significance Single submitter
- CADPS2 p.Arg835Gly Uncertain significance Single submitter
- CADPS2 p.Arg937Cys Uncertain significance Single submitter
- CADPS2 p.Asn453Ser Uncertain significance Single submitter
- CADPS2 p.Asn637Thr Uncertain significance Single submitter
- CADPS2 p.Asn814Ser Uncertain significance Single submitter
- CADPS2 p.Asn910Asp Uncertain significance Single submitter
- CADPS2 p.Asp1017Glu Uncertain significance Single submitter
- CADPS2 p.Asp1100His Uncertain significance Single submitter
- CADPS2 p.Asp1145Asn Uncertain significance Single submitter
- CADPS2 p.Asp661Tyr Uncertain significance Single submitter
- CADPS2 p.Asp888Tyr Uncertain significance Single submitter
- CADPS2 p.Cys143Ser Uncertain significance Single submitter
- CADPS2 p.Gln1248Arg Uncertain significance Single submitter
- CADPS2 p.Gln220Glu Uncertain significance Single submitter
- CADPS2 p.Gln245Glu Uncertain significance Single submitter
- CADPS2 p.Gln255His Uncertain significance Single submitter
- CADPS2 p.Gln499Lys Uncertain significance Single submitter
- CADPS2 p.Gln79Arg Uncertain significance Single submitter
- CADPS2 p.Glu1038Gln Uncertain significance Single submitter
- CADPS2 p.Glu1196Lys Uncertain significance Single submitter
- CADPS2 p.Glu140Lys Uncertain significance Single submitter
- CADPS2 p.Glu704Val Uncertain significance Single submitter
- CADPS2 p.Glu929Asp Uncertain significance Single submitter
- CADPS2 p.Gly1147Asp Uncertain significance Single submitter
- CADPS2 p.Gly554Cys Uncertain significance Single submitter
- CADPS2 p.Gly706Val Uncertain significance Single submitter
- CADPS2 p.His1036Tyr Uncertain significance Single submitter
- CADPS2 p.His1108Tyr Uncertain significance Single submitter
- CADPS2 p.His1227Arg Uncertain significance Single submitter
- CADPS2 p.His857Asp Uncertain significance Single submitter
- CADPS2 p.Ile1111Thr Uncertain significance Single submitter
- CADPS2 p.Ile1153Leu Uncertain significance Single submitter
- CADPS2 p.Ile136Thr Uncertain significance Single submitter
- CADPS2 p.Ile790Thr Uncertain significance Single submitter
- CADPS2 p.Ile840Met Uncertain significance Single submitter
- CADPS2 p.Leu226Pro Uncertain significance Single submitter
- CADPS2 p.Leu552Phe Uncertain significance Single submitter
- CADPS2 p.Leu611Pro Uncertain significance Single submitter
- CADPS2 p.Leu87Phe Uncertain significance Single submitter
- CADPS2 p.Lys113Gln Uncertain significance Single submitter
- CADPS2 p.Lys183Asn Uncertain significance Single submitter
- CADPS2 p.Lys251Gln Uncertain significance Single submitter
- CADPS2 p.Lys299Arg Uncertain significance Single submitter
- CADPS2 p.Lys456Glu Uncertain significance Single submitter
- CADPS2 p.Lys640Asn Uncertain significance Single submitter
- CADPS2 p.Lys925Arg Uncertain significance Single submitter
- CADPS2 p.Met1048Val Uncertain significance Single submitter
- CADPS2 p.Met1082Ile Uncertain significance Single submitter
- CADPS2 p.Met1180Thr Uncertain significance Single submitter
- CADPS2 p.Met162Leu Uncertain significance Single submitter
- CADPS2 p.Met522Ile Uncertain significance Single submitter
- CADPS2 p.Met536Thr Uncertain significance Single submitter
- CADPS2 p.Met557Val Uncertain significance Single submitter
- CADPS2 p.Met630Val Uncertain significance Single submitter
- CADPS2 p.Phe1203Ser Uncertain significance Single submitter
- CADPS2 p.Phe345Val Uncertain significance Single submitter
- CADPS2 p.Phe559Ile Uncertain significance Single submitter
- CADPS2 p.Phe633Val Uncertain significance Single submitter
- CADPS2 p.Phe669Leu Uncertain significance Single submitter
- CADPS2 p.Phe762Leu Uncertain significance Single submitter
- CADPS2 p.Pro34Ala Uncertain significance Single submitter
- CADPS2 p.Pro532Ser Uncertain significance Single submitter
- CADPS2 p.Pro903Arg Uncertain significance Single submitter
- CADPS2 p.Ser1209Arg Uncertain significance Single submitter
- CADPS2 p.Ser326Trp Uncertain significance Single submitter
- CADPS2 p.Ser343Thr Uncertain significance Single submitter
- CADPS2 p.Ser664Tyr Uncertain significance Single submitter
- CADPS2 p.Ser949Leu Uncertain significance Single submitter
- CADPS2 p.Thr1081Ala Uncertain significance Single submitter
- CADPS2 p.Thr1177Ser Uncertain significance Single submitter
- CADPS2 p.Thr417Ile Uncertain significance Single submitter
- CADPS2 p.Thr542Ile Uncertain significance Single submitter
- CADPS2 p.Thr819Ala Uncertain significance Single submitter
- CADPS2 p.Trp668Cys Uncertain significance Single submitter
- CADPS2 p.Tyr1164Cys Uncertain significance Single submitter
- CADPS2 p.Tyr1260His Uncertain significance Single submitter
- CADPS2 p.Val1167Ile Uncertain significance Single submitter
- CADPS2 p.Val163Ile Uncertain significance Single submitter
- CADPS2 p.Val24Leu Uncertain significance Single submitter
- CADPS2 p.Val370Ile Uncertain significance Single submitter
- CADPS2 p.Val374Ala Uncertain significance Single submitter
- CADPS2 p.Val63Gly Uncertain significance Single submitter
- CADPS2 p.Val708Leu Uncertain significance Single submitter
-
CADPS2 p.Asp208Tyr
Uncertain significance
No assertion criteria
CADPS2-related disorder
-
CADPS2 p.Cys556Ser
Uncertain significance
No assertion criteria
CADPS2-related disorder
-
CADPS2 p.Val1079Ile
Uncertain significance
No assertion criteria
CADPS2-related disorder
Predictors split 55
The independent predictors disagree with each other — read with care.
- CADPS2 p.Met828Val Benign Multiple submitters
- CADPS2 p.Ala298Pro Uncertain significance Single submitter
- CADPS2 p.Ala947Thr Uncertain significance Single submitter
- CADPS2 p.Arg1183Gln Uncertain significance Single submitter
- CADPS2 p.Arg20His Uncertain significance Single submitter
- CADPS2 p.Arg462Gln Likely benign Single submitter
- CADPS2 p.Arg481Gln Uncertain significance Single submitter
- CADPS2 p.Arg743Lys Uncertain significance Single submitter
- CADPS2 p.Asn131Ser Uncertain significance Single submitter
- CADPS2 p.Asp1116Asn Uncertain significance Single submitter
- CADPS2 p.Asp1291Glu Uncertain significance Single submitter
- CADPS2 p.Asp216Tyr Uncertain significance Single submitter
- CADPS2 p.Asp21Asn Uncertain significance Single submitter
- CADPS2 p.Asp21Tyr Uncertain significance Single submitter
- CADPS2 p.Asp360Glu Uncertain significance Single submitter
- CADPS2 p.Asp547Asn Uncertain significance Single submitter
- CADPS2 p.Asp76Gly Uncertain significance Single submitter
- CADPS2 p.Asp870Gly Uncertain significance Single submitter
- CADPS2 p.Asp940Glu Uncertain significance Single submitter
- CADPS2 p.Gln470Glu Uncertain significance Single submitter
- CADPS2 p.Glu16Gln Uncertain significance Single submitter
- CADPS2 p.Glu321Gly Uncertain significance Single submitter
- CADPS2 p.Glu746Gly Uncertain significance Single submitter
- CADPS2 p.Glu820Lys Uncertain significance Single submitter
- CADPS2 p.Glu957Asp Uncertain significance Single submitter
- CADPS2 p.Gly1005Val Uncertain significance Single submitter
- CADPS2 p.Gly1279Arg Uncertain significance Single submitter
- CADPS2 p.Gly248Asp Uncertain significance Single submitter
- CADPS2 p.Ile1123Thr Uncertain significance Single submitter
- CADPS2 p.Ile1199Thr Uncertain significance Single submitter
- CADPS2 p.Ile794Thr Uncertain significance Single submitter
- CADPS2 p.Leu232Val Uncertain significance Single submitter
- CADPS2 p.Leu538Val Uncertain significance Single submitter
- CADPS2 p.Lys378Arg Uncertain significance Single submitter
- CADPS2 p.Met1180Ile Uncertain significance Single submitter
- CADPS2 p.Phe293Ile Uncertain significance Single submitter
- CADPS2 p.Phe633Leu Uncertain significance Single submitter
- CADPS2 p.Pro997Thr Uncertain significance Single submitter
- CADPS2 p.Ser11Pro Uncertain significance Single submitter
- CADPS2 p.Ser187Gly Uncertain significance Single submitter
- CADPS2 p.Ser752Phe Uncertain significance Single submitter
- CADPS2 p.Ser994Leu Uncertain significance Single submitter
- CADPS2 p.Thr1254Ile Uncertain significance Single submitter
- CADPS2 p.Thr519Ala Uncertain significance Single submitter
- CADPS2 p.Thr546Ala Uncertain significance Single submitter
- CADPS2 p.Thr958Ile Uncertain significance Single submitter
- CADPS2 p.Thr992Asn Uncertain significance Single submitter
- CADPS2 p.Tyr211Cys Uncertain significance Single submitter
- CADPS2 p.Tyr593Cys Uncertain significance Single submitter
- CADPS2 p.Tyr680Phe Likely benign Single submitter
- CADPS2 p.Val361Leu Uncertain significance Single submitter
- CADPS2 p.Val596Phe Uncertain significance Single submitter
- CADPS2 p.Val738Ala Uncertain significance Single submitter
- CADPS2 p.Val932Ile Uncertain significance Single submitter
-
CADPS2 p.Val799Leu
Likely benign
No assertion criteria
CADPS2-related disorder
All CADPS2 variants
Benign 10
- c.3718-15A>C Multiple submitters
- p.Ala298Thr Multiple submitters
- p.Glu1010Lys Multiple submitters
- p.Lys338= Multiple submitters
- p.Met828Val Multiple submitters ⚠
- p.Thr819= Multiple submitters
- p.Val799= Multiple submitters
- p.Ala209= Single submitter
- p.His726= Single submitter
- p.Leu252= Single submitter
Likely benign 19
- p.Asp1088Asn Multiple submitters
- p.Leu154= Multiple submitters
- c.1223+10T>C Single submitter
- c.1336-4A>G Single submitter
- c.2288+7del Single submitter
- c.2477-10T>C Single submitter
- c.2477-4A>G Single submitter
- p.Arg462Gln Single submitter ⚠
- p.Gln960Glu Single submitter
- p.Ile569Thr Single submitter
- p.Leu1231= Single submitter
- p.Leu1247= Single submitter
- p.Ser202= Single submitter
- p.Ser359= Single submitter
- p.Ser994= Single submitter
- p.Thr37Ala Single submitter
- p.Tyr680Phe Single submitter ⚠
- p.Lys292Arg No assertion criteria CADPS2-related disorder
- p.Val799Leu No assertion criteria CADPS2-related disorder ⚠
Uncertain significance 150
- p.Ala145Thr Single submitter ⚠
- p.Ala228Thr Single submitter ⚠
- p.Ala266Thr Single submitter ⚠
- p.Ala298Pro Single submitter ⚠
- p.Ala479Glu Single submitter ⚠
- p.Ala774Pro Single submitter ⚠
- p.Ala796Gly Single submitter ⚠
- p.Ala859Thr Single submitter ⚠
- p.Ala947Thr Single submitter ⚠
- p.Arg1183Gln Single submitter ⚠
- p.Arg20His Single submitter ⚠
- p.Arg280Trp Single submitter ⚠
- p.Arg31Gln Single submitter ⚠
- p.Arg339Cys Single submitter ⚠
- p.Arg481Gln Single submitter ⚠
- p.Arg508Cys Single submitter ⚠
- p.Arg624Gly Single submitter ⚠
- p.Arg624His Single submitter ⚠
- p.Arg743Lys Single submitter ⚠
- p.Arg835Gly Single submitter ⚠
- p.Arg937Cys Single submitter ⚠
- p.Asn131Ser Single submitter ⚠
- p.Asn453Ser Single submitter ⚠
- p.Asn637Thr Single submitter ⚠
- p.Asn814Ser Single submitter ⚠
- p.Asn910Asp Single submitter ⚠
- p.Asp1017Glu Single submitter ⚠
- p.Asp1100His Single submitter ⚠
- p.Asp1116Asn Single submitter ⚠
- p.Asp1145Asn Single submitter ⚠
- p.Asp1291Glu Single submitter ⚠
- p.Asp216Tyr Single submitter ⚠
- p.Asp21Asn Single submitter ⚠
- p.Asp21Tyr Single submitter ⚠
- p.Asp360Glu Single submitter ⚠
- p.Asp547Asn Single submitter ⚠
- p.Asp661Tyr Single submitter ⚠
- p.Asp76Gly Single submitter ⚠
- p.Asp870Gly Single submitter ⚠
- p.Asp888Tyr Single submitter ⚠
- p.Asp940Glu Single submitter ⚠
- p.Cys143Ser Single submitter ⚠
- p.Gln1248Arg Single submitter ⚠
- p.Gln220Glu Single submitter ⚠
- p.Gln245Glu Single submitter ⚠
- p.Gln255His Single submitter ⚠
- p.Gln470Glu Single submitter ⚠
- p.Gln499Lys Single submitter ⚠
- p.Gln79Arg Single submitter ⚠
- p.Glu1038Gln Single submitter ⚠
- p.Glu1196Lys Single submitter ⚠
- p.Glu140Lys Single submitter ⚠
- p.Glu16Gln Single submitter ⚠
- p.Glu321Gly Single submitter ⚠
- p.Glu704Val Single submitter ⚠
- p.Glu746Gly Single submitter ⚠
- p.Glu820Lys Single submitter ⚠
- p.Glu929Asp Single submitter ⚠
- p.Glu957Asp Single submitter ⚠
- p.Gly1005Val Single submitter ⚠
- p.Gly1147Asp Single submitter ⚠
- p.Gly1279Arg Single submitter ⚠
- p.Gly248Asp Single submitter ⚠
- p.Gly554Cys Single submitter ⚠
- p.Gly706Val Single submitter ⚠
- p.His1036Tyr Single submitter ⚠
- p.His1108Tyr Single submitter ⚠
- p.His1227Arg Single submitter ⚠
- p.His857Asp Single submitter ⚠
- p.Ile1111Thr Single submitter ⚠
- p.Ile1123Thr Single submitter ⚠
- p.Ile1153Leu Single submitter ⚠
- p.Ile1199Thr Single submitter ⚠
- p.Ile136Thr Single submitter ⚠
- p.Ile790Thr Single submitter ⚠
- p.Ile794Thr Single submitter ⚠
- p.Ile840Met Single submitter ⚠
- p.Leu226Pro Single submitter ⚠
- p.Leu232Val Single submitter ⚠
- p.Leu538Val Single submitter ⚠
- p.Leu552Phe Single submitter ⚠
- p.Leu611Pro Single submitter ⚠
- p.Leu87Phe Single submitter ⚠
- p.Lys113Gln Single submitter ⚠
- p.Lys183Asn Single submitter ⚠
- p.Lys251Gln Single submitter ⚠
- p.Lys299Arg Single submitter ⚠
- p.Lys378Arg Single submitter ⚠
- p.Lys456Glu Single submitter ⚠
- p.Lys640Asn Single submitter ⚠
- p.Lys925Arg Single submitter ⚠
- p.Met1048Val Single submitter ⚠
- p.Met1082Ile Single submitter ⚠
- p.Met1180Ile Single submitter ⚠
- p.Met1180Thr Single submitter ⚠
- p.Met162Leu Single submitter ⚠
- p.Met522Ile Single submitter ⚠
- p.Met536Thr Single submitter ⚠
- p.Met557Val Single submitter ⚠
- p.Met630Val Single submitter ⚠
- p.Phe1203Ser Single submitter ⚠
- p.Phe293Ile Single submitter ⚠
- p.Phe345Val Single submitter ⚠
- p.Phe559Ile Single submitter ⚠
- p.Phe633Leu Single submitter ⚠
- p.Phe633Val Single submitter ⚠
- p.Phe669Leu Single submitter ⚠
- p.Phe762Leu Single submitter ⚠
- p.Pro34Ala Single submitter ⚠
- p.Pro532Ser Single submitter ⚠
- p.Pro903Arg Single submitter ⚠
- p.Pro997Thr Single submitter ⚠
- p.Ser11Pro Single submitter ⚠
- p.Ser1209Arg Single submitter ⚠
- p.Ser187Gly Single submitter ⚠
- p.Ser326Trp Single submitter ⚠
- p.Ser343Thr Single submitter ⚠
- p.Ser664Tyr Single submitter ⚠
- p.Ser752Phe Single submitter ⚠
- p.Ser949Leu Single submitter ⚠
- p.Ser994Leu Single submitter ⚠
- p.Thr1081Ala Single submitter ⚠
- p.Thr1177Ser Single submitter ⚠
- p.Thr1254Ile Single submitter ⚠
- p.Thr417Ile Single submitter ⚠
- p.Thr519Ala Single submitter ⚠
- p.Thr542Ile Single submitter ⚠
- p.Thr546Ala Single submitter ⚠
- p.Thr819Ala Single submitter ⚠
- p.Thr958Ile Single submitter ⚠
- p.Thr992Asn Single submitter ⚠
- p.Trp668Cys Single submitter ⚠
- p.Tyr1164Cys Single submitter ⚠
- p.Tyr1260His Single submitter ⚠
- p.Tyr211Cys Single submitter ⚠
- p.Tyr593Cys Single submitter ⚠
- p.Val1167Ile Single submitter ⚠
- p.Val163Ile Single submitter ⚠
- p.Val24Leu Single submitter ⚠
- p.Val361Leu Single submitter ⚠
- p.Val370Ile Single submitter ⚠
- p.Val374Ala Single submitter ⚠
- p.Val596Phe Single submitter ⚠
- p.Val63Gly Single submitter ⚠
- p.Val708Leu Single submitter ⚠
- p.Val738Ala Single submitter ⚠
- p.Val932Ile Single submitter ⚠
- p.Asp208Tyr No assertion criteria CADPS2-related disorder ⚠
- p.Cys556Ser No assertion criteria CADPS2-related disorder ⚠
- p.Val1079Ile No assertion criteria CADPS2-related disorder ⚠