CACNA1I — 581 ClinVar variants
All ClinVar germline CACNA1I variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 461 flagged for review →
4 Pathogenic · 2 Likely pathogenic · 2 Conflicting · 26 Benign · 3 Benign/Likely benign · 64 Likely benign · 480 Uncertain significance
Full CACNA1I gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 461
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 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- CACNA1I p.Ala305Val Conflicting Single submitter
-
CACNA1I p.Arg1774Gln
Conflicting
Single submitter
neurodevelopmental disorder with speech impairment and with or without seizures
Predictors lean, ClinVar uncertain 301
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 301
- CACNA1I p.Cys555Trp Uncertain significance Multiple submitters
-
CACNA1I p.Gly976Arg
Uncertain significance
Multiple submitters
neurodevelopmental disorder with speech impairment and with or without seizures
- CACNA1I p.Met1425Thr Uncertain significance Multiple submitters
- CACNA1I p.Ser1834Leu Uncertain significance Multiple submitters
-
CACNA1I p.Val1427Met
Uncertain significance
Multiple submitters
CACNA1I-related disorder
-
CACNA1I p.Val655Ile
Uncertain significance
Multiple submitters
neurodevelopmental disorder with speech impairment and with or without seizures
- CACNA1I p.Ala1001Gly Uncertain significance Single submitter
- CACNA1I p.Ala1009Glu Uncertain significance Single submitter
- CACNA1I p.Ala1015Pro Uncertain significance Single submitter
- CACNA1I p.Ala1022Ser Uncertain significance Single submitter
- CACNA1I p.Ala1030Thr Uncertain significance Single submitter
- CACNA1I p.Ala1073Gly Uncertain significance Single submitter
- CACNA1I p.Ala1081Pro Uncertain significance Single submitter
- CACNA1I p.Ala1084Gly Uncertain significance Single submitter
- CACNA1I p.Ala1088Asp Uncertain significance Single submitter
- CACNA1I p.Ala127Val Uncertain significance Single submitter
- CACNA1I p.Ala1576Thr Uncertain significance Single submitter
- CACNA1I p.Ala1771Thr Uncertain significance Single submitter
- CACNA1I p.Ala1797Val Uncertain significance Single submitter
- CACNA1I p.Ala17Thr Uncertain significance Single submitter
-
CACNA1I p.Ala1971Val
Uncertain significance
Single submitter
neurodevelopmental disorder with speech impairment and with or without seizures
- CACNA1I p.Ala1995Ser Uncertain significance Single submitter
- CACNA1I p.Ala2010Asp Uncertain significance Single submitter
- CACNA1I p.Ala2119Gly Uncertain significance Single submitter
- CACNA1I p.Ala305Thr Uncertain significance Single submitter
- CACNA1I p.Ala398Glu Uncertain significance Single submitter
- CACNA1I p.Ala426Val Uncertain significance Single submitter
- CACNA1I p.Ala429Thr Uncertain significance Single submitter
- CACNA1I p.Ala544Thr Uncertain significance Single submitter
- CACNA1I p.Ala551Ser Uncertain significance Single submitter
- CACNA1I p.Ala589Glu Uncertain significance Single submitter
- CACNA1I p.Ala844Asp Uncertain significance Single submitter
- CACNA1I p.Arg1011Gly Uncertain significance Single submitter
- CACNA1I p.Arg1011Ser Uncertain significance Single submitter
- CACNA1I p.Arg1016Gln Uncertain significance Single submitter
- CACNA1I p.Arg1016Gly Uncertain significance Single submitter
- CACNA1I p.Arg1028Gln Uncertain significance Single submitter
- CACNA1I p.Arg1028Gly Uncertain significance Single submitter
- CACNA1I p.Arg1049His Uncertain significance Single submitter
- CACNA1I p.Arg111Leu Uncertain significance Single submitter
-
CACNA1I p.Arg1284Ser
Uncertain significance
Single submitter
neurodevelopmental disorder with speech impairment and with or without seizures
-
CACNA1I p.Arg1341His
Uncertain significance
Single submitter
neurodevelopmental disorder with speech impairment and with or without seizures
- CACNA1I p.Arg1447Trp Uncertain significance Single submitter
- CACNA1I p.Arg1455Trp Uncertain significance Single submitter
-
CACNA1I p.Arg1461Cys
Uncertain significance
Single submitter
neurodevelopmental disorder with speech impairment and with or without seizures
- CACNA1I p.Arg1462Trp Uncertain significance Single submitter
- CACNA1I p.Arg1466Gln Uncertain significance Single submitter
- CACNA1I p.Arg1477Trp Uncertain significance Single submitter
- CACNA1I p.Arg152Cys Uncertain significance Single submitter
- CACNA1I p.Arg1591Cys Uncertain significance Single submitter
- CACNA1I p.Arg1696His Uncertain significance Single submitter
- CACNA1I p.Arg178Cys Uncertain significance Single submitter
- CACNA1I p.Arg1791Gln Uncertain significance Single submitter
- CACNA1I p.Arg1792Cys Uncertain significance Single submitter
- CACNA1I p.Arg181His Uncertain significance Single submitter
- CACNA1I p.Arg1884His Uncertain significance Single submitter
- CACNA1I p.Arg1898His Uncertain significance Single submitter
- CACNA1I p.Arg191His Uncertain significance Single submitter
-
CACNA1I p.Arg196Gln
Uncertain significance
Single submitter
neurodevelopmental disorder with speech impairment and with or without seizures
-
CACNA1I p.Arg196Trp
Uncertain significance
Single submitter
neurodevelopmental disorder with speech impairment and with or without seizures
- CACNA1I p.Arg1998Gln Uncertain significance Single submitter
- CACNA1I p.Arg2164His Uncertain significance Single submitter
- CACNA1I p.Arg2164Ser Uncertain significance Single submitter
- CACNA1I p.Arg291His Uncertain significance Single submitter
- CACNA1I p.Arg321His Uncertain significance Single submitter
- CACNA1I p.Arg321Leu Uncertain significance Single submitter
- CACNA1I p.Arg416Trp Uncertain significance Single submitter
- CACNA1I p.Arg447His Uncertain significance Single submitter
- CACNA1I p.Arg485Gln Uncertain significance Single submitter
- CACNA1I p.Arg562Gln Uncertain significance Single submitter
- CACNA1I p.Arg595Gln Uncertain significance Single submitter
- CACNA1I p.Arg634Pro Uncertain significance Single submitter
- CACNA1I p.Arg69Gln Uncertain significance Single submitter
- CACNA1I p.Arg69Pro Uncertain significance Single submitter
- CACNA1I p.Arg731Trp Uncertain significance Single submitter
- CACNA1I p.Arg734Gln Uncertain significance Single submitter
- CACNA1I p.Arg750Cys Uncertain significance Single submitter
- CACNA1I p.Arg791His Uncertain significance Single submitter
- CACNA1I p.Asn1241Lys Uncertain significance Single submitter
- CACNA1I p.Asn1500Ser Uncertain significance Single submitter
- CACNA1I p.Asn1574Ser Uncertain significance Single submitter
-
CACNA1I p.Asn1621Thr
Uncertain significance
Single submitter
neurodevelopmental disorder with speech impairment and with or without seizures
- CACNA1I p.Asn1920Asp Uncertain significance Single submitter
- CACNA1I p.Asn391Asp Uncertain significance Single submitter
- CACNA1I p.Asn705Asp Uncertain significance Single submitter
- CACNA1I p.Asn992Ser Uncertain significance Single submitter
- CACNA1I p.Asp103Glu Uncertain significance Single submitter
- CACNA1I p.Asp1063Glu Uncertain significance Single submitter
- CACNA1I p.Asp1871Asn Uncertain significance Single submitter
- CACNA1I p.Asp274Asn Uncertain significance Single submitter
- CACNA1I p.Asp302Glu Uncertain significance Single submitter
- CACNA1I p.Asp433Asn Uncertain significance Single submitter
- CACNA1I p.Asp549Asn Uncertain significance Single submitter
- CACNA1I p.Asp549Glu Uncertain significance Single submitter
- CACNA1I p.Asp805Asn Uncertain significance Single submitter
- CACNA1I p.Cys1018Ser Uncertain significance Single submitter
- CACNA1I p.Cys1094Gly Uncertain significance Single submitter
- CACNA1I p.Cys1314Ser Uncertain significance Single submitter
- CACNA1I p.Cys1838Trp Uncertain significance Single submitter
- CACNA1I p.Cys1841Trp Uncertain significance Single submitter
- CACNA1I p.Cys1841Tyr Uncertain significance Single submitter
- CACNA1I p.Cys622Ser Uncertain significance Single submitter
-
CACNA1I p.Gln1553His
Uncertain significance
Single submitter
CACNA1I-related disorder
- CACNA1I p.Gln1973Arg Uncertain significance Single submitter
- CACNA1I p.Gln2084Arg Uncertain significance Single submitter
- CACNA1I p.Gln2084Leu Uncertain significance Single submitter
- CACNA1I p.Gln2206Glu Uncertain significance Single submitter
-
CACNA1I p.Gln229Arg
Uncertain significance
Single submitter
neurodevelopmental disorder with speech impairment and with or without seizures
- CACNA1I p.Gln25Glu Uncertain significance Single submitter
- CACNA1I p.Gln461His Uncertain significance Single submitter
- CACNA1I p.Gln540Arg Uncertain significance Single submitter
- CACNA1I p.Gln664His Uncertain significance Single submitter
-
CACNA1I p.Gln964Arg
Uncertain significance
Single submitter
neurodevelopmental disorder with speech impairment and with or without seizures
- CACNA1I p.Glu1010Gly Uncertain significance Single submitter
- CACNA1I p.Glu1745Lys Uncertain significance Single submitter
- CACNA1I p.Glu1751Lys Uncertain significance Single submitter
- CACNA1I p.Glu1786Lys Uncertain significance Single submitter
- CACNA1I p.Glu1815Asp Uncertain significance Single submitter
- CACNA1I p.Glu1875Gly Uncertain significance Single submitter
- CACNA1I p.Glu1904Lys Uncertain significance Single submitter
- CACNA1I p.Glu1963Lys Uncertain significance Single submitter
- CACNA1I p.Glu403Gly Uncertain significance Single submitter
- CACNA1I p.Glu437Asp Uncertain significance Single submitter
- CACNA1I p.Glu878Lys Uncertain significance Single submitter
- CACNA1I p.Gly1013Ser Uncertain significance Single submitter
- CACNA1I p.Gly1014Ala Uncertain significance Single submitter
- CACNA1I p.Gly1025Glu Uncertain significance Single submitter
- CACNA1I p.Gly1269Arg Uncertain significance Single submitter
- CACNA1I p.Gly1637Trp Uncertain significance Single submitter
- CACNA1I p.Gly1642Glu Uncertain significance Single submitter
- CACNA1I p.Gly1665Ser Uncertain significance Single submitter
- CACNA1I p.Gly1777Ala Uncertain significance Single submitter
- CACNA1I p.Gly1783Ser Uncertain significance Single submitter
- CACNA1I p.Gly1788Ser Uncertain significance Single submitter
- CACNA1I p.Gly1983Ala Uncertain significance Single submitter
- CACNA1I p.Gly2071Ser Uncertain significance Single submitter
- CACNA1I p.Gly2091Ala Uncertain significance Single submitter
- CACNA1I p.Gly2146Val Uncertain significance Single submitter
-
CACNA1I p.Gly2163Ala
Uncertain significance
Single submitter
CACNA1I-related disorder
- CACNA1I p.Gly2163Arg Uncertain significance Single submitter
- CACNA1I p.Gly2210Arg Uncertain significance Single submitter
- CACNA1I p.Gly249Glu Uncertain significance Single submitter
- CACNA1I p.Gly279Arg Uncertain significance Single submitter
- CACNA1I p.Gly306Arg Uncertain significance Single submitter
- CACNA1I p.Gly306Glu Uncertain significance Single submitter
- CACNA1I p.Gly493Asp Uncertain significance Single submitter
- CACNA1I p.Gly566Val Uncertain significance Single submitter
- CACNA1I p.Gly593Glu Uncertain significance Single submitter
- CACNA1I p.Gly635Arg Uncertain significance Single submitter
- CACNA1I p.Gly645Ala Uncertain significance Single submitter
Predictors split 158
The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 158
-
CACNA1I p.Arg1131Leu
Uncertain significance
Multiple submitters
neurodevelopmental disorder with speech impairment and with or without seizures
-
CACNA1I p.Arg1453Gln
Uncertain significance
Multiple submitters
neurodevelopmental disorder with speech impairment and with or without seizures
- CACNA1I p.Arg1466Trp Uncertain significance Multiple submitters
- CACNA1I p.Arg2064His Uncertain significance Multiple submitters
-
CACNA1I p.Arg950Gln
Uncertain significance
Multiple submitters
neurodevelopmental disorder with speech impairment and with or without seizures
- CACNA1I p.Arg965Cys Uncertain significance Multiple submitters
-
CACNA1I p.Asp1784Asn
Uncertain significance
Multiple submitters
neurodevelopmental disorder with speech impairment and with or without seizures
- CACNA1I p.Ile1417Val Uncertain significance Multiple submitters
-
CACNA1I p.Lys1170Arg
Uncertain significance
Multiple submitters
neurodevelopmental disorder with speech impairment and with or without seizures
-
CACNA1I p.Ser1008Phe
Uncertain significance
Multiple submitters
neurodevelopmental disorder with speech impairment and with or without seizures
- CACNA1I p.Ala12Val Uncertain significance Single submitter
- CACNA1I p.Ala1755Asp Uncertain significance Single submitter
- CACNA1I p.Ala1755Val Uncertain significance Single submitter
- CACNA1I p.Ala2114Thr Uncertain significance Single submitter
- CACNA1I p.Ala2144Val Uncertain significance Single submitter
- CACNA1I p.Ala2168Val Uncertain significance Single submitter
- CACNA1I p.Ala475Thr Uncertain significance Single submitter
- CACNA1I p.Ala684Val Uncertain significance Single submitter
-
CACNA1I p.Arg1049Cys
Uncertain significance
Single submitter
neurodevelopmental disorder with speech impairment and with or without seizures
- CACNA1I p.Arg1054Cys Uncertain significance Single submitter
- CACNA1I p.Arg1055Gln Uncertain significance Single submitter
- CACNA1I p.Arg1055Trp Uncertain significance Single submitter
- CACNA1I p.Arg1079Trp Uncertain significance Single submitter
- CACNA1I p.Arg1115His Uncertain significance Single submitter
- CACNA1I p.Arg1145His Uncertain significance Single submitter
- CACNA1I p.Arg1456Cys Uncertain significance Single submitter
- CACNA1I p.Arg1461His Uncertain significance Single submitter
- CACNA1I p.Arg1791Trp Uncertain significance Single submitter
- CACNA1I p.Arg1884Cys Uncertain significance Single submitter
- CACNA1I p.Arg1998Trp Uncertain significance Single submitter
- CACNA1I p.Arg2085His Uncertain significance Single submitter
- CACNA1I p.Arg2151Gly Uncertain significance Single submitter
- CACNA1I p.Arg2164Cys Uncertain significance Single submitter
- CACNA1I p.Arg410Trp Uncertain significance Single submitter
- CACNA1I p.Arg463Gln Uncertain significance Single submitter
- CACNA1I p.Arg463Trp Uncertain significance Single submitter
- CACNA1I p.Arg485Trp Uncertain significance Single submitter
- CACNA1I p.Arg562Trp Uncertain significance Single submitter
- CACNA1I p.Arg563Trp Uncertain significance Single submitter
- CACNA1I p.Arg595Trp Uncertain significance Single submitter
-
CACNA1I p.Arg627Gln
Uncertain significance
Single submitter
neurodevelopmental disorder with speech impairment and with or without seizures
- CACNA1I p.Arg627Trp Uncertain significance Single submitter
- CACNA1I p.Arg634Cys Uncertain significance Single submitter
- CACNA1I p.Arg935Gln Uncertain significance Single submitter
-
CACNA1I p.Arg980Cys
Uncertain significance
Single submitter
neurodevelopmental disorder with speech impairment and with or without seizures
- CACNA1I p.Arg987Cys Uncertain significance Single submitter
- CACNA1I p.Asn1353Ser Uncertain significance Single submitter
- CACNA1I p.Asn1650Lys Uncertain significance Single submitter
- CACNA1I p.Asp1114Asn Uncertain significance Single submitter
- CACNA1I p.Asp148Glu Uncertain significance Single submitter
- CACNA1I p.Asp1678Glu Uncertain significance Single submitter
- CACNA1I p.Asp1735Asn Uncertain significance Single submitter
- CACNA1I p.Asp1861Tyr Uncertain significance Single submitter
- CACNA1I p.Asp2040Tyr Likely benign Single submitter
- CACNA1I p.Asp262Tyr Uncertain significance Single submitter
-
CACNA1I p.Asp433Tyr
Uncertain significance
Single submitter
neurodevelopmental disorder with speech impairment and with or without seizures
- CACNA1I p.Asp571Asn Uncertain significance Single submitter
- CACNA1I p.Asp616Tyr Uncertain significance Single submitter
- CACNA1I p.Asp638Gly Uncertain significance Single submitter
- CACNA1I p.Asp724Glu Uncertain significance Single submitter
-
CACNA1I p.Asp793Asn
Uncertain significance
Single submitter
neurodevelopmental disorder with speech impairment and with or without seizures
- CACNA1I p.Cys556Tyr Uncertain significance Single submitter
- CACNA1I p.Gln1164His Uncertain significance Single submitter
- CACNA1I p.Gln1439Leu Uncertain significance Single submitter
- CACNA1I p.Glu1010Lys Uncertain significance Single submitter
- CACNA1I p.Glu1649Ala Uncertain significance Single submitter
-
CACNA1I p.Glu1649Lys
Uncertain significance
Single submitter
CACNA1I-related disorder
- CACNA1I p.Glu1662Lys Uncertain significance Single submitter
- CACNA1I p.Glu1751Gln Uncertain significance Single submitter
- CACNA1I p.Glu2108Gln Uncertain significance Single submitter
-
CACNA1I p.Glu242Ala
Uncertain significance
Single submitter
Ventriculomegaly
- CACNA1I p.Glu282Gly Uncertain significance Single submitter
-
CACNA1I p.Glu292Lys
Uncertain significance
Single submitter
neurodevelopmental disorder with speech impairment and with or without seizures
-
CACNA1I p.Glu430Lys
Uncertain significance
Single submitter
neurodevelopmental disorder with speech impairment and with or without seizures
- CACNA1I p.Glu575Val Uncertain significance Single submitter
- CACNA1I p.Glu598Lys Uncertain significance Single submitter
- CACNA1I p.Glu663Lys Uncertain significance Single submitter
- CACNA1I p.Gly1013Cys Uncertain significance Single submitter
- CACNA1I p.Gly1096Ser Uncertain significance Single submitter
- CACNA1I p.Gly1116Arg Uncertain significance Single submitter
- CACNA1I p.Gly1197Ser Uncertain significance Single submitter
- CACNA1I p.Gly1231Ser Likely benign Single submitter
- CACNA1I p.Gly1783Asp Uncertain significance Single submitter
- CACNA1I p.Gly1788Asp Uncertain significance Single submitter
- CACNA1I p.Gly1826Ala Uncertain significance Single submitter
- CACNA1I p.Gly2090Val Uncertain significance Single submitter
- CACNA1I p.Gly2112Ser Uncertain significance Single submitter
- CACNA1I p.Gly455Asp Uncertain significance Single submitter
- CACNA1I p.Gly580Arg Uncertain significance Single submitter
- CACNA1I p.Gly593Arg Uncertain significance Single submitter
- CACNA1I p.Gly600Arg Uncertain significance Single submitter
- CACNA1I p.Gly948Asp Uncertain significance Single submitter
- CACNA1I p.His1050Gln Uncertain significance Single submitter
- CACNA1I p.His281Leu Uncertain significance Single submitter
- CACNA1I p.His500Tyr Uncertain significance Single submitter
- CACNA1I p.His536Tyr Uncertain significance Single submitter
- CACNA1I p.His782Asp Uncertain significance Single submitter
- CACNA1I p.Ile114Thr Uncertain significance Single submitter
- CACNA1I p.Ile1167Val Uncertain significance Single submitter
-
CACNA1I p.Ile1300Leu
Uncertain significance
Single submitter
neurodevelopmental disorder with speech impairment and with or without seizures
- CACNA1I p.Ile1318Val Uncertain significance Single submitter
- CACNA1I p.Ile177Val Uncertain significance Single submitter
- CACNA1I p.Ile343Val Uncertain significance Single submitter
- CACNA1I p.Ile783Met Uncertain significance Single submitter
- CACNA1I p.Leu1228Met Uncertain significance Single submitter
- CACNA1I p.Leu1489Val Uncertain significance Single submitter
- CACNA1I p.Leu1801Met Benign Single submitter
- CACNA1I p.Leu1874Phe Uncertain significance Single submitter
- CACNA1I p.Leu1909Met Uncertain significance Single submitter
- CACNA1I p.Leu241Met Uncertain significance Single submitter
- CACNA1I p.Leu936Phe Uncertain significance Single submitter
- CACNA1I p.Met134Ile Uncertain significance Single submitter
- CACNA1I p.Met1746Ile Uncertain significance Single submitter
- CACNA1I p.Met682Ile Uncertain significance Single submitter
- CACNA1I p.Phe1704Tyr Uncertain significance Single submitter
- CACNA1I p.Pro15Leu Uncertain significance Single submitter
- CACNA1I p.Pro1762Arg Uncertain significance Single submitter
- CACNA1I p.Pro2189His Uncertain significance Single submitter
- CACNA1I p.Pro2200Thr Uncertain significance Single submitter
-
CACNA1I p.Pro285Leu
Uncertain significance
Single submitter
neurodevelopmental disorder with speech impairment and with or without seizures
- CACNA1I p.Pro41His Uncertain significance Single submitter
-
CACNA1I p.Pro431Ser
Uncertain significance
Single submitter
CACNA1I-related disorder
- CACNA1I p.Ser1910Phe Uncertain significance Single submitter
- CACNA1I p.Ser1947Arg Uncertain significance Single submitter
- CACNA1I p.Ser1954Cys Uncertain significance Single submitter
- CACNA1I p.Ser2179Leu Uncertain significance Single submitter
- CACNA1I p.Ser2179Trp Uncertain significance Single submitter
- CACNA1I p.Ser2219Asn Uncertain significance Single submitter
- CACNA1I p.Ser313Asn Uncertain significance Single submitter
- CACNA1I p.Ser503Asn Uncertain significance Single submitter
- CACNA1I p.Ser514Tyr Uncertain significance Single submitter
- CACNA1I p.Ser572Leu Uncertain significance Single submitter
- CACNA1I p.Ser581Asn Uncertain significance Single submitter
- CACNA1I p.Ser602Phe Uncertain significance Single submitter
- CACNA1I p.Ser681Gly Uncertain significance Single submitter
- CACNA1I p.Ser970Cys Uncertain significance Single submitter
- CACNA1I p.Ser986Thr Uncertain significance Single submitter
- CACNA1I p.Thr1199Ile Uncertain significance Single submitter
- CACNA1I p.Thr1517Ala Uncertain significance Single submitter
- CACNA1I p.Thr1528Ile Uncertain significance Single submitter
-
CACNA1I p.Thr2011Ile
Uncertain significance
Single submitter
neurodevelopmental disorder with speech impairment and with or without seizures
- CACNA1I p.Thr2015Met Uncertain significance Single submitter
-
CACNA1I p.Thr2148Met
Uncertain significance
Single submitter
CACNA1I-related disorder
- CACNA1I p.Thr328Met Uncertain significance Single submitter
- CACNA1I p.Thr545Met Likely benign Single submitter
-
CACNA1I p.Thr792Met
Uncertain significance
Single submitter
neurodevelopmental disorder with speech impairment and with or without seizures
-
CACNA1I p.Thr797Met
Uncertain significance
Single submitter
neurodevelopmental disorder with speech impairment and with or without seizures
- CACNA1I p.Tyr1633Phe Uncertain significance Single submitter
- CACNA1I p.Tyr323Phe Uncertain significance Single submitter
- CACNA1I p.Val135Met Uncertain significance Single submitter
All CACNA1I variants
Pathogenic 4
- c.3474-2_3476del No assertion criteria neurodevelopmental disorder with speech impairment and with or without seizures
- p.Ile860Asn No assertion criteria neurodevelopmental disorder with speech impairment and with or without seizures
- p.Ile860Met No assertion criteria neurodevelopmental disorder with speech impairment and with or without seizures
- p.Met1425Ile No assertion criteria neurodevelopmental disorder with speech impairment and with or without seizures
Likely pathogenic 2
- p.Met687Val Single submitter neurodevelopmental disorder with speech impairment and with or without seizures
- p.Tyr1235Ser Single submitter neurodevelopmental disorder with speech impairment and with or without seizures
Conflicting classifications of pathogenicity 2
- p.Ala305Val Single submitter ⚠
- p.Arg1774Gln Single submitter neurodevelopmental disorder with speech impairment and with or without seizures ⚠
Benign 26
- p.Cys622= Multiple submitters
- p.Gly273= Multiple submitters
- p.His1756= Multiple submitters
- p.Ile719= Multiple submitters
- p.Leu501= Multiple submitters
- p.Val1270= Multiple submitters
- p.Val843= Multiple submitters
- c.5056-5C>T Single submitter
- p.Ala583Thr Single submitter
- p.Asn1500= Single submitter
- p.Asp870= Single submitter
- p.Gly432= Single submitter
- p.His505Asn Single submitter
- p.Leu1801Met Single submitter ⚠
- p.Pro1026Leu Single submitter
- p.Pro1762Leu Single submitter
- p.Val163= Single submitter
- c.3852-6C>T No assertion criteria CACNA1I-related disorder
- p.Ala1744= No assertion criteria CACNA1I-related disorder
- p.Gly1782Arg No assertion criteria CACNA1I-related disorder ⚠
- p.His1831= No assertion criteria CACNA1I-related disorder
- p.Ile1040Val No assertion criteria CACNA1I-related disorder
- p.Pro1951= No assertion criteria CACNA1I-related disorder
- p.Pro7Leu No assertion criteria CACNA1I-related disorder
- p.Ser33= No assertion criteria CACNA1I-related disorder
- p.Ser953= No assertion criteria CACNA1I-related disorder
Benign/Likely benign 3
- p.Ala533= Multiple submitters
- p.Leu1423= Multiple submitters
- p.Pro259= Multiple submitters
Likely benign 64
- p.Ala594Ser Multiple submitters
- p.Met1109Leu Multiple submitters
- p.Ala1009= Single submitter
- p.Ala1351= Single submitter
- p.Ala136= Single submitter
- p.Ala1836= Single submitter
- p.Ala2082= Single submitter
- p.Ala763Thr Single submitter neurodevelopmental disorder with speech impairment and with or without seizures
- p.Arg1898Cys Single submitter
- p.Arg1934Gln Single submitter
- p.Arg2001Ser Single submitter
- p.Arg29Gln Single submitter
- p.Arg307His Single submitter
- p.Asp1743= Single submitter
- p.Asp2040Tyr Single submitter ⚠
- p.Asp299= Single submitter
- p.Asp302Gly Single submitter
- p.Asp800Asn Single submitter neurodevelopmental disorder with speech impairment and with or without seizures
- p.Gln1193His Single submitter
- p.Gly1231Ser Single submitter ⚠
- p.Gly1767Ser Single submitter
- p.Gly2115= Single submitter
- p.Gly578= Single submitter
- p.Leu1152= Single submitter
- p.Leu1409= Single submitter
- p.Leu1733= Single submitter
- p.Leu1902= Single submitter
- p.Leu1990= Single submitter
- p.Lys2152Arg Single submitter
- p.Phe707= Single submitter
- p.Pro1290= Single submitter
- p.Pro1769= Single submitter
- p.Pro1918= Single submitter
- p.Pro472= Single submitter
- p.Pro910= Single submitter
- p.Pro940= Single submitter
- p.Ser109= Single submitter
- p.Ser2041= Single submitter
- p.Thr1982Ala Single submitter
- p.Thr545= Single submitter
- p.Thr545Met Single submitter ⚠
- p.Trp620Arg Single submitter
- p.Tyr441= Single submitter
- p.Val798= Single submitter
- c.1057-8C>T No assertion criteria CACNA1I-related disorder
- c.1463-3C>T No assertion criteria CACNA1I-related disorder
- c.1993-6C>T No assertion criteria CACNA1I-related disorder
- c.349-8C>T No assertion criteria CACNA1I-related disorder
- c.*6G>A No assertion criteria CACNA1I-related disorder
- p.Ala1740= No assertion criteria CACNA1I-related disorder
- p.Ala232= No assertion criteria CACNA1I-related disorder
- p.Ala429= No assertion criteria CACNA1I-related disorder
- p.Arg504Trp No assertion criteria CACNA1I-related disorder ⚠
- p.Arg634= No assertion criteria CACNA1I-related disorder
- p.Glu2109= No assertion criteria CACNA1I-related disorder
- p.Gly233= No assertion criteria CACNA1I-related disorder
- p.Ile438= No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
- p.Pro474= No assertion criteria CACNA1I-related disorder
- p.Pro515= No assertion criteria CACNA1I-related disorder
- p.Ser1825= No assertion criteria CACNA1I-related disorder
- p.Ser1915= No assertion criteria CACNA1I-related disorder
- p.Ser876= No assertion criteria CACNA1I-related disorder
- p.Thr570= No assertion criteria CACNA1I-related disorder
- p.Thr792= No assertion criteria CACNA1I-related disorder
Uncertain significance 480
Showing the top 300 by review status; the full set is in the sitemap.
- p.Arg1131Leu Multiple submitters neurodevelopmental disorder with speech impairment and with or without seizures ⚠
- p.Arg1453Gln Multiple submitters neurodevelopmental disorder with speech impairment and with or without seizures ⚠
- p.Arg1466Trp Multiple submitters ⚠
- p.Arg2064His Multiple submitters ⚠
- p.Arg950Gln Multiple submitters neurodevelopmental disorder with speech impairment and with or without seizures ⚠
- p.Arg965Cys Multiple submitters ⚠
- p.Asp1784Asn Multiple submitters neurodevelopmental disorder with speech impairment and with or without seizures ⚠
- p.Cys555Trp Multiple submitters ⚠
- p.Gly976Arg Multiple submitters neurodevelopmental disorder with speech impairment and with or without seizures ⚠
- p.Ile1417Val Multiple submitters ⚠
- p.Lys1170Arg Multiple submitters neurodevelopmental disorder with speech impairment and with or without seizures ⚠
- p.Met1425Thr Multiple submitters ⚠
- p.Ser1008Phe Multiple submitters neurodevelopmental disorder with speech impairment and with or without seizures ⚠
- p.Ser1834Leu Multiple submitters ⚠
- p.Val1427Met Multiple submitters CACNA1I-related disorder ⚠
- p.Val655Ile Multiple submitters neurodevelopmental disorder with speech impairment and with or without seizures ⚠
- c.2449-4A>G Single submitter neurodevelopmental disorder with speech impairment and with or without seizures
- c.2901+1_2901+3del Single submitter
- c.2901+1G>A Single submitter
- c.4387+2T>A Single submitter
- c.4540-11T>C Single submitter neurodevelopmental disorder with speech impairment and with or without seizures
- c.5056-10T>C Single submitter neurodevelopmental disorder with speech impairment and with or without seizures
- c.5395-1G>T Single submitter
- c.580+4A>G Single submitter
- p.Ala1001Gly Single submitter ⚠
- p.Ala1009Glu Single submitter ⚠
- p.Ala1015Pro Single submitter ⚠
- p.Ala1022Ser Single submitter ⚠
- p.Ala1030Thr Single submitter ⚠
- p.Ala1073Gly Single submitter ⚠
- p.Ala1081Pro Single submitter ⚠
- p.Ala1084Gly Single submitter ⚠
- p.Ala1088Asp Single submitter ⚠
- p.Ala127Val Single submitter ⚠
- p.Ala12Val Single submitter ⚠
- p.Ala1576Thr Single submitter ⚠
- p.Ala1755Asp Single submitter ⚠
- p.Ala1755Val Single submitter ⚠
- p.Ala1771Thr Single submitter ⚠
- p.Ala1797Val Single submitter ⚠
- p.Ala17Thr Single submitter ⚠
- p.Ala1971Val Single submitter neurodevelopmental disorder with speech impairment and with or without seizures ⚠
- p.Ala1995Ser Single submitter ⚠
- p.Ala2010Asp Single submitter ⚠
- p.Ala2114Thr Single submitter ⚠
- p.Ala2119Gly Single submitter ⚠
- p.Ala2144Val Single submitter ⚠
- p.Ala2168Val Single submitter ⚠
- p.Ala2218Asn Single submitter neurodevelopmental disorder with speech impairment and with or without seizures
- p.Ala305Thr Single submitter ⚠
- p.Ala398Glu Single submitter ⚠
- p.Ala426Val Single submitter ⚠
- p.Ala429Thr Single submitter ⚠
- p.Ala475Thr Single submitter ⚠
- p.Ala544Thr Single submitter ⚠
- p.Ala551Ser Single submitter ⚠
- p.Ala589Glu Single submitter ⚠
- p.Ala684Val Single submitter ⚠
- p.Ala844Asp Single submitter ⚠
- p.Arg1011Gly Single submitter ⚠
- p.Arg1011Ser Single submitter ⚠
- p.Arg1016Gln Single submitter ⚠
- p.Arg1016Gly Single submitter ⚠
- p.Arg1028Gln Single submitter ⚠
- p.Arg1028Gly Single submitter ⚠
- p.Arg1049Cys Single submitter neurodevelopmental disorder with speech impairment and with or without seizures ⚠
- p.Arg1049His Single submitter ⚠
- p.Arg1054Cys Single submitter ⚠
- p.Arg1055Gln Single submitter ⚠
- p.Arg1055Trp Single submitter ⚠
- p.Arg1079Trp Single submitter ⚠
- p.Arg1115His Single submitter ⚠
- p.Arg111Leu Single submitter ⚠
- p.Arg1145His Single submitter ⚠
- p.Arg1158= Single submitter
- p.Arg1284Ser Single submitter neurodevelopmental disorder with speech impairment and with or without seizures ⚠
- p.Arg1341His Single submitter neurodevelopmental disorder with speech impairment and with or without seizures ⚠
- p.Arg1447Trp Single submitter ⚠
- p.Arg1455Trp Single submitter ⚠
- p.Arg1456Cys Single submitter ⚠
- p.Arg1461Cys Single submitter neurodevelopmental disorder with speech impairment and with or without seizures ⚠
- p.Arg1461His Single submitter ⚠
- p.Arg1462Trp Single submitter ⚠
- p.Arg1466Gln Single submitter ⚠
- p.Arg1477Trp Single submitter ⚠
- p.Arg152Cys Single submitter ⚠
- p.Arg1550Ter Single submitter CACNA1I-related disorder
- p.Arg1591Cys Single submitter ⚠
- p.Arg1696His Single submitter ⚠
- p.Arg178Cys Single submitter ⚠
- p.Arg1791Gln Single submitter ⚠
- p.Arg1791Trp Single submitter ⚠
- p.Arg1792Cys Single submitter ⚠
- p.Arg181His Single submitter ⚠
- p.Arg1884Cys Single submitter ⚠
- p.Arg1884His Single submitter ⚠
- p.Arg1898His Single submitter ⚠
- p.Arg191His Single submitter ⚠
- p.Arg196Gln Single submitter neurodevelopmental disorder with speech impairment and with or without seizures ⚠
- p.Arg196Trp Single submitter neurodevelopmental disorder with speech impairment and with or without seizures ⚠
- p.Arg1998Gln Single submitter ⚠
- p.Arg1998Trp Single submitter ⚠
- p.Arg2085His Single submitter ⚠
- p.Arg2151Gly Single submitter ⚠
- p.Arg2164Cys Single submitter ⚠
- p.Arg2164His Single submitter ⚠
- p.Arg2164Ser Single submitter ⚠
- p.Arg291His Single submitter ⚠
- p.Arg321His Single submitter ⚠
- p.Arg321Leu Single submitter ⚠
- p.Arg410Trp Single submitter ⚠
- p.Arg416Trp Single submitter ⚠
- p.Arg447His Single submitter ⚠
- p.Arg463Gln Single submitter ⚠
- p.Arg463Trp Single submitter ⚠
- p.Arg485Gln Single submitter ⚠
- p.Arg485Trp Single submitter ⚠
- p.Arg562Gln Single submitter ⚠
- p.Arg562Trp Single submitter ⚠
- p.Arg563Trp Single submitter ⚠
- p.Arg595_Ala601del Single submitter CACNA1I-related disorder
- p.Arg595Gln Single submitter ⚠
- p.Arg595Trp Single submitter ⚠
- p.Arg627Gln Single submitter neurodevelopmental disorder with speech impairment and with or without seizures ⚠
- p.Arg627Trp Single submitter ⚠
- p.Arg634Cys Single submitter ⚠
- p.Arg634Pro Single submitter ⚠
- p.Arg69Gln Single submitter ⚠
- p.Arg69Pro Single submitter ⚠
- p.Arg731Trp Single submitter ⚠
- p.Arg734Gln Single submitter ⚠
- p.Arg750Cys Single submitter ⚠
- p.Arg791His Single submitter ⚠
- p.Arg935Gln Single submitter ⚠
- p.Arg980Cys Single submitter neurodevelopmental disorder with speech impairment and with or without seizures ⚠
- p.Arg987Cys Single submitter ⚠
- p.Asn1241Lys Single submitter ⚠
- p.Asn1353Ser Single submitter ⚠
- p.Asn1500Ser Single submitter ⚠
- p.Asn1574Ser Single submitter ⚠
- p.Asn1621Thr Single submitter neurodevelopmental disorder with speech impairment and with or without seizures ⚠
- p.Asn1650Lys Single submitter ⚠
- p.Asn1920Asp Single submitter ⚠
- p.Asn342del Single submitter CACNA1I-related disorder
- p.Asn391Asp Single submitter ⚠
- p.Asn705Asp Single submitter ⚠
- p.Asn992Ser Single submitter ⚠
- p.Asp103Glu Single submitter ⚠
- p.Asp1063Glu Single submitter ⚠
- p.Asp1114Asn Single submitter ⚠
- p.Asp148Glu Single submitter ⚠
- p.Asp1678Glu Single submitter ⚠
- p.Asp1735Asn Single submitter ⚠
- p.Asp1861Tyr Single submitter ⚠
- p.Asp1871Asn Single submitter ⚠
- p.Asp262Tyr Single submitter ⚠
- p.Asp274Asn Single submitter ⚠
- p.Asp302Glu Single submitter ⚠
- p.Asp433Asn Single submitter ⚠
- p.Asp433Tyr Single submitter neurodevelopmental disorder with speech impairment and with or without seizures ⚠
- p.Asp549Asn Single submitter ⚠
- p.Asp549Glu Single submitter ⚠
- p.Asp571Asn Single submitter ⚠
- p.Asp616Tyr Single submitter ⚠
- p.Asp638Gly Single submitter ⚠
- p.Asp724Glu Single submitter ⚠
- p.Asp793Asn Single submitter neurodevelopmental disorder with speech impairment and with or without seizures ⚠
- p.Asp805Asn Single submitter ⚠
- p.Cys1018Ser Single submitter ⚠
- p.Cys1094Gly Single submitter ⚠
- p.Cys1314Ser Single submitter ⚠
- p.Cys1838Trp Single submitter ⚠
- p.Cys1841Trp Single submitter ⚠
- p.Cys1841Tyr Single submitter ⚠
- p.Cys556Tyr Single submitter ⚠
- p.Cys622Ser Single submitter ⚠
- p.Gln1164His Single submitter ⚠
- p.Gln1439Leu Single submitter ⚠
- p.Gln1553His Single submitter CACNA1I-related disorder ⚠
- p.Gln1846Ter Single submitter
- p.Gln1973Arg Single submitter ⚠
- p.Gln2084Arg Single submitter ⚠
- p.Gln2084Leu Single submitter ⚠
- p.Gln2206Glu Single submitter ⚠
- p.Gln229Arg Single submitter neurodevelopmental disorder with speech impairment and with or without seizures ⚠
- p.Gln25Glu Single submitter ⚠
- p.Gln461His Single submitter ⚠
- p.Gln540Arg Single submitter ⚠
- p.Gln664His Single submitter ⚠
- p.Gln964Arg Single submitter neurodevelopmental disorder with speech impairment and with or without seizures ⚠
- p.Glu1010Gly Single submitter ⚠
- p.Glu1010Lys Single submitter ⚠
- p.Glu1024Ter Single submitter
- p.Glu1117fs Single submitter
- p.Glu1649Ala Single submitter ⚠
- p.Glu1649Lys Single submitter CACNA1I-related disorder ⚠
- p.Glu1662Lys Single submitter ⚠
- p.Glu1745Lys Single submitter ⚠
- p.Glu1751Gln Single submitter ⚠
- p.Glu1751Lys Single submitter ⚠
- p.Glu1786Lys Single submitter ⚠
- p.Glu1815Asp Single submitter ⚠
- p.Glu1875Gly Single submitter ⚠
- p.Glu1904Lys Single submitter ⚠
- p.Glu1963Lys Single submitter ⚠
- p.Glu2108Gln Single submitter ⚠
- p.Glu242Ala Single submitter Ventriculomegaly ⚠
- p.Glu282Gly Single submitter ⚠
- p.Glu292Lys Single submitter neurodevelopmental disorder with speech impairment and with or without seizures ⚠
- p.Glu403Gly Single submitter ⚠
- p.Glu430Lys Single submitter neurodevelopmental disorder with speech impairment and with or without seizures ⚠
- p.Glu437Asp Single submitter ⚠
- p.Glu437del Single submitter neurodevelopmental disorder with speech impairment and with or without seizures
- p.Glu470Ter Single submitter
- p.Glu575Val Single submitter ⚠
- p.Glu598Lys Single submitter ⚠
- p.Glu663Lys Single submitter ⚠
- p.Glu878Lys Single submitter ⚠
- p.Gly1013Cys Single submitter ⚠
- p.Gly1013Ser Single submitter ⚠
- p.Gly1014Ala Single submitter ⚠
- p.Gly1025Glu Single submitter ⚠
- p.Gly1096Ser Single submitter ⚠
- p.Gly1116Arg Single submitter ⚠
- p.Gly1116fs Single submitter
- p.Gly1197Ser Single submitter ⚠
- p.Gly1269Arg Single submitter ⚠
- p.Gly1637Trp Single submitter ⚠
- p.Gly1642Glu Single submitter ⚠
- p.Gly1665Ser Single submitter ⚠
- p.Gly1777Ala Single submitter ⚠
- p.Gly1783Asp Single submitter ⚠
- p.Gly1783Ser Single submitter ⚠
- p.Gly1788Asp Single submitter ⚠
- p.Gly1788Ser Single submitter ⚠
- p.Gly1826Ala Single submitter ⚠
- p.Gly1975His Single submitter
- p.Gly1983Ala Single submitter ⚠
- p.Gly2071Ser Single submitter ⚠
- p.Gly2090Val Single submitter ⚠
- p.Gly2091Ala Single submitter ⚠
- p.Gly2112Ser Single submitter ⚠
- p.Gly2118_Ala2119insGlyGly Single submitter
- p.Gly2146Val Single submitter ⚠
- p.Gly2163Ala Single submitter CACNA1I-related disorder ⚠
- p.Gly2163Arg Single submitter ⚠
- p.Gly2210Arg Single submitter ⚠
- p.Gly249Glu Single submitter ⚠
- p.Gly279Arg Single submitter ⚠
- p.Gly306Arg Single submitter ⚠
- p.Gly306Glu Single submitter ⚠
- p.Gly455Asp Single submitter ⚠
- p.Gly493Asp Single submitter ⚠
- p.Gly566Val Single submitter ⚠
- p.Gly580Arg Single submitter ⚠
- p.Gly593Arg Single submitter ⚠
- p.Gly593Glu Single submitter ⚠
- p.Gly600Arg Single submitter ⚠
- p.Gly635Arg Single submitter ⚠
- p.Gly645Ala Single submitter ⚠
- p.Gly830Ser Single submitter ⚠
- p.Gly899Arg Single submitter ⚠
- p.Gly912Trp Single submitter ⚠
- p.Gly948Asp Single submitter ⚠
- p.Gly979Ala Single submitter ⚠
- p.His1050Gln Single submitter ⚠
- p.His1052_Arg1054del Single submitter
- p.His1077Arg Single submitter ⚠
- p.His1077Pro Single submitter ⚠
- p.His1169Gln Single submitter ⚠
- p.His2087Arg Single submitter ⚠
- p.His2099Arg Single submitter CACNA1I-related disorder ⚠
- p.His2166Asn Single submitter ⚠
- p.His2172Pro Single submitter ⚠
- p.His281Leu Single submitter ⚠
- p.His334fs Single submitter
- p.His409Gln Single submitter ⚠
- p.His486Gln Single submitter ⚠
- p.His500Tyr Single submitter ⚠
- p.His528Arg Single submitter ⚠
- p.His536Tyr Single submitter ⚠
- p.His782Asp Single submitter ⚠
- p.Ile114Thr Single submitter ⚠
- p.Ile1167Val Single submitter ⚠
- p.Ile1252Val Single submitter ⚠
- p.Ile1267Asn Single submitter ⚠
- p.Ile1300Leu Single submitter neurodevelopmental disorder with speech impairment and with or without seizures ⚠
- p.Ile1306Thr Single submitter neurodevelopmental disorder with speech impairment and with or without seizures ⚠
- p.Ile1318Val Single submitter ⚠
- p.Ile1319Thr Single submitter ⚠
- p.Ile1322Thr Single submitter ⚠
- p.Ile1385Met Single submitter ⚠
- p.Ile1496Leu Single submitter ⚠
- p.Ile157Asn Single submitter ⚠
- p.Ile177Val Single submitter ⚠
- p.Ile1866Met Single submitter ⚠
- p.Ile222Phe Single submitter ⚠
- p.Ile247Val Single submitter ⚠
- p.Ile283Met Single submitter ⚠
- p.Ile343Val Single submitter ⚠