CACNA2D3 — 171 ClinVar variants
All ClinVar germline CACNA2D3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 143 flagged for review →
9 Benign · 17 Likely benign · 145 Uncertain significance
Full CACNA2D3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 143
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 83
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CACNA2D3 p.Ala238Val Uncertain significance Single submitter
- CACNA2D3 p.Ala26Val Uncertain significance Single submitter
- CACNA2D3 p.Ala372Val Uncertain significance Single submitter
- CACNA2D3 p.Ala381Thr Uncertain significance Single submitter
- CACNA2D3 p.Ala58Val Uncertain significance Single submitter
- CACNA2D3 p.Arg1051Cys Uncertain significance Single submitter
- CACNA2D3 p.Arg317Gly Uncertain significance Single submitter
- CACNA2D3 p.Arg32Ser Uncertain significance Single submitter
- CACNA2D3 p.Arg440Gln Uncertain significance Single submitter
- CACNA2D3 p.Arg567Gln Uncertain significance Single submitter
- CACNA2D3 p.Arg630Leu Uncertain significance Single submitter
- CACNA2D3 p.Arg8Ser Uncertain significance Single submitter
- CACNA2D3 p.Asn187Ser Uncertain significance Single submitter
- CACNA2D3 p.Asn293Ser Uncertain significance Single submitter
- CACNA2D3 p.Asn910Lys Uncertain significance Single submitter
- CACNA2D3 p.Asp125Asn Uncertain significance Single submitter
- CACNA2D3 p.Asp288Gly Uncertain significance Single submitter
- CACNA2D3 p.Asp351Val Uncertain significance Single submitter
- CACNA2D3 p.Asp374Glu Uncertain significance Single submitter
- CACNA2D3 p.Asp445Asn Uncertain significance Single submitter
- CACNA2D3 p.Asp445Tyr Uncertain significance Single submitter
- CACNA2D3 p.Asp756Asn Uncertain significance Single submitter
- CACNA2D3 p.Asp808Asn Uncertain significance Single submitter
- CACNA2D3 p.Asp808Gly Uncertain significance Single submitter
- CACNA2D3 p.Asp915Asn Uncertain significance Single submitter
- CACNA2D3 p.Asp954Asn Uncertain significance Single submitter
- CACNA2D3 p.Gln277Arg Uncertain significance Single submitter
- CACNA2D3 p.Gln64His Uncertain significance Single submitter
- CACNA2D3 p.Gln745Glu Uncertain significance Single submitter
- CACNA2D3 p.Glu193Asp Uncertain significance Single submitter
- CACNA2D3 p.Glu400Gly Uncertain significance Single submitter
- CACNA2D3 p.Glu429Gln Uncertain significance Single submitter
- CACNA2D3 p.Glu447Gln Uncertain significance Single submitter
- CACNA2D3 p.Glu454Lys Uncertain significance Single submitter
- CACNA2D3 p.Glu544Lys Uncertain significance Single submitter
- CACNA2D3 p.Gly3Arg Uncertain significance Single submitter
- CACNA2D3 p.Gly519Glu Uncertain significance Single submitter
- CACNA2D3 p.Gly617Asp Uncertain significance Single submitter
-
CACNA2D3 p.His624Asn
Uncertain significance
Single submitter
CACNA2D3-related disorder
- CACNA2D3 p.Ile1000Met Uncertain significance Single submitter
- CACNA2D3 p.Ile1025Val Uncertain significance Single submitter
- CACNA2D3 p.Ile1048Val Uncertain significance Single submitter
- CACNA2D3 p.Ile340Val Uncertain significance Single submitter
- CACNA2D3 p.Ile360Val Uncertain significance Single submitter
- CACNA2D3 p.Ile392Val Uncertain significance Single submitter
- CACNA2D3 p.Ile82Thr Uncertain significance Single submitter
- CACNA2D3 p.Ile847Phe Uncertain significance Single submitter
- CACNA2D3 p.Leu118Met Uncertain significance Single submitter
- CACNA2D3 p.Leu146Phe Uncertain significance Single submitter
- CACNA2D3 p.Leu616Ser Uncertain significance Single submitter
- CACNA2D3 p.Leu65Val Uncertain significance Single submitter
- CACNA2D3 p.Leu841Pro Uncertain significance Single submitter
-
CACNA2D3 p.Leu938Phe
Uncertain significance
Single submitter
CACNA2D3-related disorder
- CACNA2D3 p.Leu947Phe Uncertain significance Single submitter
- CACNA2D3 p.Lys515Arg Uncertain significance Single submitter
- CACNA2D3 p.Lys721Arg Uncertain significance Single submitter
- CACNA2D3 p.Lys844Arg Uncertain significance Single submitter
- CACNA2D3 p.Lys90Gln Uncertain significance Single submitter
-
CACNA2D3 p.Lys983Arg
Uncertain significance
Single submitter
CACNA2D3-related disorder
-
CACNA2D3 p.Met481Lys
Uncertain significance
Single submitter
CACNA2D3-related disorder
- CACNA2D3 p.Phe696Cys Uncertain significance Single submitter
- CACNA2D3 p.Pro1071Arg Uncertain significance Single submitter
- CACNA2D3 p.Pro1071Leu Uncertain significance Single submitter
- CACNA2D3 p.Pro4Ser Uncertain significance Single submitter
- CACNA2D3 p.Pro682Ser Uncertain significance Single submitter
- CACNA2D3 p.Pro703Arg Uncertain significance Single submitter
- CACNA2D3 p.Ser1006Asn Uncertain significance Single submitter
- CACNA2D3 p.Ser40Pro Uncertain significance Single submitter
- CACNA2D3 p.Ser648Phe Uncertain significance Single submitter
- CACNA2D3 p.Ser846Pro Uncertain significance Single submitter
- CACNA2D3 p.Thr1077Ala Uncertain significance Single submitter
- CACNA2D3 p.Thr872Ala Uncertain significance Single submitter
- CACNA2D3 p.Tyr303Ser Uncertain significance Single submitter
- CACNA2D3 p.Tyr60Phe Uncertain significance Single submitter
- CACNA2D3 p.Val200Ile Uncertain significance Single submitter
- CACNA2D3 p.Val443Ala Uncertain significance Single submitter
- CACNA2D3 p.Val451Leu Uncertain significance Single submitter
- CACNA2D3 p.Val77Ile Uncertain significance Single submitter
- CACNA2D3 p.Val854Leu Uncertain significance Single submitter
-
CACNA2D3 p.Ala16Val
Uncertain significance
No assertion criteria
CACNA2D3-related disorder
-
CACNA2D3 p.Asn347Ser
Uncertain significance
No assertion criteria
CACNA2D3-related disorder
-
CACNA2D3 p.His765Tyr
Uncertain significance
No assertion criteria
CACNA2D3-related disorder
-
CACNA2D3 p.Val174Ile
Uncertain significance
No assertion criteria
CACNA2D3-related disorder
Predictors split 60
The independent predictors disagree with each other — read with care.
- CACNA2D3 p.Ala1070Thr Uncertain significance Single submitter
- CACNA2D3 p.Ala14Thr Uncertain significance Single submitter
- CACNA2D3 p.Ala217Gly Uncertain significance Single submitter
- CACNA2D3 p.Ala217Thr Uncertain significance Single submitter
- CACNA2D3 p.Ala381Val Uncertain significance Single submitter
- CACNA2D3 p.Ala524Val Uncertain significance Single submitter
- CACNA2D3 p.Ala57Val Uncertain significance Single submitter
-
CACNA2D3 p.Ala702Thr
Uncertain significance
Single submitter
CACNA2D3-related disorder
- CACNA2D3 p.Ala92Thr Uncertain significance Single submitter
- CACNA2D3 p.Arg12Gln Uncertain significance Single submitter
- CACNA2D3 p.Arg205His Uncertain significance Single submitter
- CACNA2D3 p.Arg549Gln Uncertain significance Single submitter
- CACNA2D3 p.Asn234Ser Uncertain significance Single submitter
- CACNA2D3 p.Asn243Lys Uncertain significance Single submitter
- CACNA2D3 p.Asn353Tyr Uncertain significance Single submitter
- CACNA2D3 p.Asp232Gly Uncertain significance Single submitter
- CACNA2D3 p.Asp469His Uncertain significance Single submitter
- CACNA2D3 p.Gln428Arg Uncertain significance Single submitter
- CACNA2D3 p.Glu121Ala Uncertain significance Single submitter
- CACNA2D3 p.Glu300Lys Uncertain significance Single submitter
- CACNA2D3 p.Glu489Lys Uncertain significance Single submitter
- CACNA2D3 p.Glu636Lys Uncertain significance Single submitter
- CACNA2D3 p.Gly28Trp Uncertain significance Single submitter
- CACNA2D3 p.Gly5Val Uncertain significance Single submitter
- CACNA2D3 p.Gly729Ser Uncertain significance Single submitter
- CACNA2D3 p.Gly987Ala Uncertain significance Single submitter
- CACNA2D3 p.Ile185Val Uncertain significance Single submitter
- CACNA2D3 p.Ile274Val Uncertain significance Single submitter
- CACNA2D3 p.Ile282Val Uncertain significance Single submitter
- CACNA2D3 p.Ile365Val Uncertain significance Single submitter
- CACNA2D3 p.Ile457Thr Uncertain significance Single submitter
- CACNA2D3 p.Ile704Thr Uncertain significance Single submitter
- CACNA2D3 p.Leu1081Arg Uncertain significance Single submitter
- CACNA2D3 p.Leu675Val Uncertain significance Single submitter
- CACNA2D3 p.Leu695Phe Uncertain significance Single submitter
- CACNA2D3 p.Leu734Val Uncertain significance Single submitter
- CACNA2D3 p.Leu739Pro Uncertain significance Single submitter
- CACNA2D3 p.Leu966Pro Uncertain significance Single submitter
- CACNA2D3 p.Lys54Asn Uncertain significance Single submitter
- CACNA2D3 p.Phe49Leu Uncertain significance Single submitter
- CACNA2D3 p.Phe740Leu Uncertain significance Single submitter
- CACNA2D3 p.Phe761Leu Uncertain significance Single submitter
- CACNA2D3 p.Phe99Leu Uncertain significance Single submitter
- CACNA2D3 p.Pro306Thr Uncertain significance Single submitter
- CACNA2D3 p.Ser459Gly Uncertain significance Single submitter
- CACNA2D3 p.Ser459Ile Uncertain significance Single submitter
- CACNA2D3 p.Ser668Pro Uncertain significance Single submitter
- CACNA2D3 p.Ser710Arg Uncertain significance Single submitter
- CACNA2D3 p.Ser929Phe Uncertain significance Single submitter
- CACNA2D3 p.Ser949Gly Uncertain significance Single submitter
- CACNA2D3 p.Thr378Ile Uncertain significance Single submitter
- CACNA2D3 p.Thr580Lys Uncertain significance Single submitter
- CACNA2D3 p.Thr658Ala Uncertain significance Single submitter
- CACNA2D3 p.Thr732Met Benign Single submitter
- CACNA2D3 p.Thr874Ile Uncertain significance Single submitter
- CACNA2D3 p.Tyr73Cys Uncertain significance Single submitter
- CACNA2D3 p.Val106Ile Uncertain significance Single submitter
- CACNA2D3 p.Val110Met Uncertain significance Single submitter
- CACNA2D3 p.Val500Ile Uncertain significance Single submitter
- CACNA2D3 p.Val700Ala Uncertain significance Single submitter
All CACNA2D3 variants
Benign 9
- c.676+9A>C Multiple submitters
- p.Ala1064= Multiple submitters
- p.Ala1070= Single submitter
- p.Ile82= Single submitter
- p.Thr732Met Single submitter ⚠
- c.1399-7C>T No assertion criteria CACNA2D3-related disorder
- c.1783-10_1783-9del No assertion criteria CACNA2D3-related disorder
- p.Thr311= No assertion criteria CACNA2D3-related disorder
- p.Tyr543= No assertion criteria CACNA2D3-related disorder
Likely benign 17
- c.2449+18617_2449+18618del Multiple submitters
- c.1471-5G>A Single submitter
- p.Asn762= Single submitter
- p.Leu768= Single submitter
- p.Thr468Ala Single submitter
- c.1398+8C>T No assertion criteria CACNA2D3-related disorder
- c.1627-9C>G No assertion criteria CACNA2D3-related disorder
- c.2820-4T>C No assertion criteria CACNA2D3-related disorder
- c.322-7_322-3dup No assertion criteria CACNA2D3-related disorder
- c.322-9_322-3dup No assertion criteria CACNA2D3-related disorder
- p.Asp697= No assertion criteria CACNA2D3-related disorder
- p.Glu809Gly No assertion criteria CACNA2D3-related disorder
- p.Gly226= No assertion criteria CACNA2D3-related disorder
- p.Leu940Phe No assertion criteria CACNA2D3-related disorder
- p.Pro473= No assertion criteria CACNA2D3-related disorder
- p.Ser914= No assertion criteria CACNA2D3-related disorder
- p.Thr874= No assertion criteria CACNA2D3-related disorder
Uncertain significance 145
- c.2620-4A>G Single submitter
- p.Ala1070Thr Single submitter ⚠
- p.Ala14Thr Single submitter ⚠
- p.Ala217Gly Single submitter ⚠
- p.Ala217Thr Single submitter ⚠
- p.Ala238Val Single submitter ⚠
- p.Ala26Val Single submitter ⚠
- p.Ala372Val Single submitter ⚠
- p.Ala381Thr Single submitter ⚠
- p.Ala381Val Single submitter ⚠
- p.Ala524Val Single submitter ⚠
- p.Ala57Val Single submitter ⚠
- p.Ala58Val Single submitter ⚠
- p.Ala702Thr Single submitter CACNA2D3-related disorder ⚠
- p.Ala92Thr Single submitter ⚠
- p.Arg1051Cys Single submitter ⚠
- p.Arg12Gln Single submitter ⚠
- p.Arg205His Single submitter ⚠
- p.Arg317Gly Single submitter ⚠
- p.Arg32Ser Single submitter ⚠
- p.Arg440Gln Single submitter ⚠
- p.Arg549Gln Single submitter ⚠
- p.Arg567Gln Single submitter ⚠
- p.Arg630Leu Single submitter ⚠
- p.Arg8Ser Single submitter ⚠
- p.Asn187Ser Single submitter ⚠
- p.Asn234Ser Single submitter ⚠
- p.Asn243Lys Single submitter ⚠
- p.Asn293Ser Single submitter ⚠
- p.Asn353Tyr Single submitter ⚠
- p.Asn910Lys Single submitter ⚠
- p.Asp125Asn Single submitter ⚠
- p.Asp232Gly Single submitter ⚠
- p.Asp288Gly Single submitter ⚠
- p.Asp351Val Single submitter ⚠
- p.Asp374Glu Single submitter ⚠
- p.Asp445Asn Single submitter ⚠
- p.Asp445Tyr Single submitter ⚠
- p.Asp469His Single submitter ⚠
- p.Asp756Asn Single submitter ⚠
- p.Asp76fs Single submitter CACNA2D3-related disorder
- p.Asp808Asn Single submitter ⚠
- p.Asp808Gly Single submitter ⚠
- p.Asp915Asn Single submitter ⚠
- p.Asp954Asn Single submitter ⚠
- p.Gln277Arg Single submitter ⚠
- p.Gln428Arg Single submitter ⚠
- p.Gln64His Single submitter ⚠
- p.Gln745Glu Single submitter ⚠
- p.Glu121Ala Single submitter ⚠
- p.Glu193Asp Single submitter ⚠
- p.Glu300Lys Single submitter ⚠
- p.Glu400Gly Single submitter ⚠
- p.Glu429Gln Single submitter ⚠
- p.Glu447Gln Single submitter ⚠
- p.Glu454Lys Single submitter ⚠
- p.Glu489Lys Single submitter ⚠
- p.Glu544Lys Single submitter ⚠
- p.Glu636Lys Single submitter ⚠
- p.Gly28Trp Single submitter ⚠
- p.Gly3Arg Single submitter ⚠
- p.Gly519Glu Single submitter ⚠
- p.Gly5Val Single submitter ⚠
- p.Gly617Asp Single submitter ⚠
- p.Gly729Ser Single submitter ⚠
- p.Gly987Ala Single submitter ⚠
- p.His624Asn Single submitter CACNA2D3-related disorder ⚠
- p.Ile1000Met Single submitter ⚠
- p.Ile1025Val Single submitter ⚠
- p.Ile1048Val Single submitter ⚠
- p.Ile185Val Single submitter ⚠
- p.Ile274Val Single submitter ⚠
- p.Ile282Val Single submitter ⚠
- p.Ile340Val Single submitter ⚠
- p.Ile360Val Single submitter ⚠
- p.Ile365Val Single submitter ⚠
- p.Ile392Val Single submitter ⚠
- p.Ile457Thr Single submitter ⚠
- p.Ile704Thr Single submitter ⚠
- p.Ile82Thr Single submitter ⚠
- p.Ile847Phe Single submitter ⚠
- p.Leu1081Arg Single submitter ⚠
- p.Leu118Met Single submitter ⚠
- p.Leu146Phe Single submitter ⚠
- p.Leu616Ser Single submitter ⚠
- p.Leu65Val Single submitter ⚠
- p.Leu675Val Single submitter ⚠
- p.Leu695Phe Single submitter ⚠
- p.Leu734Val Single submitter ⚠
- p.Leu739Pro Single submitter ⚠
- p.Leu841Pro Single submitter ⚠
- p.Leu938Phe Single submitter CACNA2D3-related disorder ⚠
- p.Leu947Phe Single submitter ⚠
- p.Leu966Pro Single submitter ⚠
- p.Lys515Arg Single submitter ⚠
- p.Lys54Asn Single submitter ⚠
- p.Lys721Arg Single submitter ⚠
- p.Lys844Arg Single submitter ⚠
- p.Lys90Gln Single submitter ⚠
- p.Lys983Arg Single submitter CACNA2D3-related disorder ⚠
- p.Met481Lys Single submitter CACNA2D3-related disorder ⚠
- p.Phe49Leu Single submitter ⚠
- p.Phe696Cys Single submitter ⚠
- p.Phe740Leu Single submitter ⚠
- p.Phe761Leu Single submitter ⚠
- p.Phe99Leu Single submitter ⚠
- p.Pro1071Arg Single submitter ⚠
- p.Pro1071Leu Single submitter ⚠
- p.Pro306Thr Single submitter ⚠
- p.Pro4Ser Single submitter ⚠
- p.Pro682Ser Single submitter ⚠
- p.Pro703Arg Single submitter ⚠
- p.Ser1006Asn Single submitter ⚠
- p.Ser40Pro Single submitter ⚠
- p.Ser459Gly Single submitter ⚠
- p.Ser459Ile Single submitter ⚠
- p.Ser648Phe Single submitter ⚠
- p.Ser668Pro Single submitter ⚠
- p.Ser710Arg Single submitter ⚠
- p.Ser846Pro Single submitter ⚠
- p.Ser929Phe Single submitter ⚠
- p.Ser949Gly Single submitter ⚠
- p.Thr1077Ala Single submitter ⚠
- p.Thr378Ile Single submitter ⚠
- p.Thr580Lys Single submitter ⚠
- p.Thr658Ala Single submitter ⚠
- p.Thr872Ala Single submitter ⚠
- p.Thr874Ile Single submitter ⚠
- p.Tyr1034Cys Single submitter
- p.Tyr303Ser Single submitter ⚠
- p.Tyr60Phe Single submitter ⚠
- p.Tyr73Cys Single submitter ⚠
- p.Val106Ile Single submitter ⚠
- p.Val110Met Single submitter ⚠
- p.Val200Ile Single submitter ⚠
- p.Val443Ala Single submitter ⚠
- p.Val451Leu Single submitter ⚠
- p.Val500Ile Single submitter ⚠
- p.Val700Ala Single submitter ⚠
- p.Val77Ile Single submitter ⚠
- p.Val854Leu Single submitter ⚠
- p.Ala16Val No assertion criteria CACNA2D3-related disorder ⚠
- p.Asn347Ser No assertion criteria CACNA2D3-related disorder ⚠
- p.His765Tyr No assertion criteria CACNA2D3-related disorder ⚠
- p.Val174Ile No assertion criteria CACNA2D3-related disorder ⚠