CAMTA2 — 201 ClinVar variants
All ClinVar germline CAMTA2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 168 flagged for review →
1 Conflicting · 4 Benign · 9 Likely benign · 187 Uncertain significance
Full CAMTA2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 168
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 114
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CAMTA2 p.Ala226Thr Uncertain significance Single submitter
- CAMTA2 p.Ala286Thr Uncertain significance Single submitter
- CAMTA2 p.Ala302Thr Uncertain significance Single submitter
- CAMTA2 p.Ala406Thr Uncertain significance Single submitter
- CAMTA2 p.Ala561Thr Uncertain significance Single submitter
- CAMTA2 p.Ala572Thr Uncertain significance Single submitter
- CAMTA2 p.Ala704Gly Uncertain significance Single submitter
-
CAMTA2 p.Ala763Thr
Uncertain significance
Single submitter
cerebellar dysfunction with variable cognitive and behavioral abnormalities
- CAMTA2 p.Ala772Val Uncertain significance Single submitter
- CAMTA2 p.Ala824Thr Uncertain significance Single submitter
- CAMTA2 p.Ala880Thr Uncertain significance Single submitter
- CAMTA2 p.Ala900Gly Uncertain significance Single submitter
- CAMTA2 p.Ala900Pro Uncertain significance Single submitter
- CAMTA2 p.Arg1008Gln Uncertain significance Single submitter
- CAMTA2 p.Arg1060Gln Uncertain significance Single submitter
- CAMTA2 p.Arg1083Gln Uncertain significance Single submitter
- CAMTA2 p.Arg1120Pro Uncertain significance Single submitter
- CAMTA2 p.Arg1155Ser Uncertain significance Single submitter
- CAMTA2 p.Arg170His Uncertain significance Single submitter
- CAMTA2 p.Arg171Gln Uncertain significance Single submitter
- CAMTA2 p.Arg257Gln Uncertain significance Single submitter
- CAMTA2 p.Arg315Gln Uncertain significance Single submitter
- CAMTA2 p.Arg386Lys Uncertain significance Single submitter
- CAMTA2 p.Arg584Cys Uncertain significance Single submitter
- CAMTA2 p.Arg694His Uncertain significance Single submitter
- CAMTA2 p.Arg702His Uncertain significance Single submitter
- CAMTA2 p.Arg710Trp Uncertain significance Single submitter
- CAMTA2 p.Arg777His Uncertain significance Single submitter
- CAMTA2 p.Arg777Pro Uncertain significance Single submitter
- CAMTA2 p.Arg791His Uncertain significance Single submitter
- CAMTA2 p.Arg804Leu Uncertain significance Single submitter
- CAMTA2 p.Arg807His Uncertain significance Single submitter
- CAMTA2 p.Arg970Gln Uncertain significance Single submitter
- CAMTA2 p.Arg970Pro Uncertain significance Single submitter
- CAMTA2 p.Asn2Thr Uncertain significance Single submitter
- CAMTA2 p.Asp667Asn Uncertain significance Single submitter
- CAMTA2 p.Asp897Gly Uncertain significance Single submitter
- CAMTA2 p.Gln813Glu Uncertain significance Single submitter
- CAMTA2 p.Glu1003Lys Uncertain significance Single submitter
- CAMTA2 p.Glu1044Lys Uncertain significance Single submitter
- CAMTA2 p.Glu1191Gln Uncertain significance Single submitter
- CAMTA2 p.Glu746Asp Uncertain significance Single submitter
- CAMTA2 p.Glu746Gln Uncertain significance Single submitter
- CAMTA2 p.Glu964Gln Uncertain significance Single submitter
- CAMTA2 p.Glu964Lys Uncertain significance Single submitter
- CAMTA2 p.Gly183Ala Uncertain significance Single submitter
- CAMTA2 p.Gly197Arg Uncertain significance Single submitter
- CAMTA2 p.Gly231Arg Uncertain significance Single submitter
- CAMTA2 p.Gly322Asp Uncertain significance Single submitter
- CAMTA2 p.Gly392Val Uncertain significance Single submitter
- CAMTA2 p.Gly395Arg Uncertain significance Single submitter
- CAMTA2 p.Gly722Ser Uncertain significance Single submitter
- CAMTA2 p.Gly848Asp Uncertain significance Single submitter
- CAMTA2 p.Gly882Arg Uncertain significance Single submitter
- CAMTA2 p.Gly882Asp Uncertain significance Single submitter
- CAMTA2 p.Gly887Cys Uncertain significance Single submitter
- CAMTA2 p.His1146Gln Uncertain significance Single submitter
- CAMTA2 p.His15Leu Uncertain significance Single submitter
- CAMTA2 p.His563Arg Uncertain significance Single submitter
- CAMTA2 p.His705Arg Uncertain significance Single submitter
- CAMTA2 p.His802Pro Uncertain significance Single submitter
- CAMTA2 p.Ile276Met Uncertain significance Single submitter
- CAMTA2 p.Ile444Leu Uncertain significance Single submitter
- CAMTA2 p.Ile462Thr Uncertain significance Single submitter
- CAMTA2 p.Ile727Leu Uncertain significance Single submitter
- CAMTA2 p.Leu884Pro Uncertain significance Single submitter
- CAMTA2 p.Lys1086Arg Uncertain significance Single submitter
- CAMTA2 p.Lys157Arg Uncertain significance Single submitter
- CAMTA2 p.Lys22Arg Uncertain significance Single submitter
- CAMTA2 p.Lys285Arg Uncertain significance Single submitter
- CAMTA2 p.Lys904Asn Uncertain significance Single submitter
- CAMTA2 p.Met510Thr Uncertain significance Single submitter
- CAMTA2 p.Met691Thr Uncertain significance Single submitter
- CAMTA2 p.Met876Thr Uncertain significance Single submitter
- CAMTA2 p.Met939Val Uncertain significance Single submitter
- CAMTA2 p.Met969Leu Uncertain significance Single submitter
- CAMTA2 p.Met969Val Uncertain significance Single submitter
- CAMTA2 p.Pro1001Ala Uncertain significance Single submitter
- CAMTA2 p.Pro1005Ser Uncertain significance Single submitter
- CAMTA2 p.Pro1017Ser Uncertain significance Single submitter
- CAMTA2 p.Pro222Ser Uncertain significance Single submitter
- CAMTA2 p.Pro270Ala Uncertain significance Single submitter
- CAMTA2 p.Pro280Ala Uncertain significance Single submitter
- CAMTA2 p.Pro280Ser Uncertain significance Single submitter
- CAMTA2 p.Pro309Arg Uncertain significance Single submitter
- CAMTA2 p.Pro32Arg Uncertain significance Single submitter
- CAMTA2 p.Pro340Ala Uncertain significance Single submitter
- CAMTA2 p.Pro368Ser Uncertain significance Single submitter
- CAMTA2 p.Pro429Leu Uncertain significance Single submitter
- CAMTA2 p.Pro460Ala Uncertain significance Single submitter
- CAMTA2 p.Pro475Leu Uncertain significance Single submitter
- CAMTA2 p.Pro522Ser Uncertain significance Single submitter
- CAMTA2 p.Pro540Leu Uncertain significance Single submitter
- CAMTA2 p.Pro556Leu Uncertain significance Single submitter
- CAMTA2 p.Pro580Ala Uncertain significance Single submitter
- CAMTA2 p.Pro865Leu Uncertain significance Single submitter
- CAMTA2 p.Ser713Asn Uncertain significance Single submitter
- CAMTA2 p.Ser784Gly Uncertain significance Single submitter
- CAMTA2 p.Ser818Leu Uncertain significance Single submitter
- CAMTA2 p.Ser843Leu Uncertain significance Single submitter
- CAMTA2 p.Ser851Pro Uncertain significance Single submitter
- CAMTA2 p.Ser872Phe Uncertain significance Single submitter
- CAMTA2 p.Thr100Ile Uncertain significance Single submitter
- CAMTA2 p.Thr875Ser Uncertain significance Single submitter
- CAMTA2 p.Tyr898Cys Uncertain significance Single submitter
- CAMTA2 p.Val493Ala Uncertain significance Single submitter
- CAMTA2 p.Val493Phe Uncertain significance Single submitter
- CAMTA2 p.Val578Ile Uncertain significance Single submitter
- CAMTA2 p.Val684Ile Uncertain significance Single submitter
- CAMTA2 p.Val686Asp Uncertain significance Single submitter
- CAMTA2 p.Val852Ile Uncertain significance Single submitter
- CAMTA2 p.Val852Phe Uncertain significance Single submitter
- CAMTA2 p.Val960Leu Uncertain significance Single submitter
- CAMTA2 p.Val960Met Uncertain significance Single submitter
Predictors split 53
The independent predictors disagree with each other — read with care.
- CAMTA2 p.Ala1096Val Uncertain significance Single submitter
- CAMTA2 p.Ala423Thr Uncertain significance Single submitter
- CAMTA2 p.Ala782Thr Uncertain significance Single submitter
- CAMTA2 p.Ala806Thr Uncertain significance Single submitter
- CAMTA2 p.Ala986Asp Uncertain significance Single submitter
- CAMTA2 p.Arg1065Gln Uncertain significance Single submitter
- CAMTA2 p.Arg1080His Uncertain significance Single submitter
- CAMTA2 p.Arg1180Gly Uncertain significance Single submitter
- CAMTA2 p.Arg178Gln Uncertain significance Single submitter
- CAMTA2 p.Arg178Gly Uncertain significance Single submitter
- CAMTA2 p.Arg178Trp Uncertain significance Single submitter
- CAMTA2 p.Arg334Trp Uncertain significance Single submitter
- CAMTA2 p.Arg40Gln Uncertain significance Single submitter
- CAMTA2 p.Arg710Gln Uncertain significance Single submitter
- CAMTA2 p.Arg725Cys Uncertain significance Single submitter
- CAMTA2 p.Arg725His Uncertain significance Single submitter
- CAMTA2 p.Arg804Cys Uncertain significance Single submitter
- CAMTA2 p.Arg953Leu Uncertain significance Single submitter
- CAMTA2 p.Arg970Trp Uncertain significance Single submitter
- CAMTA2 p.Arg972Trp Uncertain significance Single submitter
- CAMTA2 p.Asn751Thr Uncertain significance Single submitter
- CAMTA2 p.Asp925Tyr Uncertain significance Single submitter
- CAMTA2 p.Cys63Arg Uncertain significance Single submitter
- CAMTA2 p.Glu363Lys Uncertain significance Single submitter
- CAMTA2 p.Glu402Lys Uncertain significance Single submitter
- CAMTA2 p.Glu517Lys Uncertain significance Single submitter
- CAMTA2 p.Glu559Lys Uncertain significance Single submitter
- CAMTA2 p.Glu562Lys Uncertain significance Single submitter
- CAMTA2 p.Glu591Asp Uncertain significance Single submitter
- CAMTA2 p.Glu643Gln Uncertain significance Single submitter
- CAMTA2 p.Glu646Lys Uncertain significance Single submitter
- CAMTA2 p.Glu728Lys Uncertain significance Single submitter
- CAMTA2 p.Glu948Lys Uncertain significance Single submitter
- CAMTA2 p.Gly317Val Uncertain significance Single submitter
- CAMTA2 p.Leu1048Met Uncertain significance Single submitter
- CAMTA2 p.Leu356Trp Uncertain significance Single submitter
- CAMTA2 p.Phe709Leu Uncertain significance Single submitter
- CAMTA2 p.Pro415Arg Uncertain significance Single submitter
- CAMTA2 p.Pro465Ser Uncertain significance Single submitter
- CAMTA2 p.Pro469Leu Uncertain significance Single submitter
- CAMTA2 p.Pro492His Uncertain significance Single submitter
- CAMTA2 p.Pro580Leu Uncertain significance Single submitter
- CAMTA2 p.Pro817Thr Uncertain significance Single submitter
- CAMTA2 p.Ser160Arg Uncertain significance Single submitter
- CAMTA2 p.Ser291Cys Uncertain significance Single submitter
- CAMTA2 p.Ser520Arg Uncertain significance Single submitter
- CAMTA2 p.Ser624Ile Uncertain significance Single submitter
- CAMTA2 p.Ser784Thr Uncertain significance Single submitter
- CAMTA2 p.Ser846Trp Uncertain significance Single submitter
- CAMTA2 p.Thr245Met Uncertain significance Single submitter
- CAMTA2 p.Thr341Ile Uncertain significance Single submitter
- CAMTA2 p.Thr7Ile Uncertain significance Single submitter
- CAMTA2 p.Val493Ile Uncertain significance Single submitter
All CAMTA2 variants
Conflicting classifications of pathogenicity 1
- p.Asp878Gly Single submitter ⚠
Benign 4
- p.Ala267Pro Multiple submitters
- p.His343= Multiple submitters
- p.Pro749= Multiple submitters
- c.411+9G>T Single submitter
Likely benign 9
- c.*11G>A Single submitter
- p.Ala616Thr Single submitter
- p.Ala824Val Single submitter
- p.Cys1081= Single submitter
- p.Pro1198= Single submitter
- p.Pro588= Single submitter
- p.Ser243= Single submitter
- p.Thr1027Ala Single submitter
- p.Val661= Single submitter
Uncertain significance 187
- c.1765+1G>A Single submitter
- c.-18C>G Single submitter
- c.-2C>A Single submitter
- c.-32C>T Single submitter
- c.-35G>C Single submitter
- c.-39C>G Single submitter
- c.-42C>A Single submitter
- c.-45C>G Single submitter
- c.-45C>T Single submitter
- c.-56C>T Single submitter
- c.-8C>T Single submitter
- c.*10C>T Single submitter
- c.*12C>T Single submitter
- c.*30G>A Single submitter
- c.*34G>A Single submitter
- p.Ala1096Val Single submitter ⚠
- p.Ala226Thr Single submitter ⚠
- p.Ala286Thr Single submitter ⚠
- p.Ala302Thr Single submitter ⚠
- p.Ala406Thr Single submitter ⚠
- p.Ala423Thr Single submitter ⚠
- p.Ala561Thr Single submitter ⚠
- p.Ala572Thr Single submitter ⚠
- p.Ala704Gly Single submitter ⚠
- p.Ala763Thr Single submitter cerebellar dysfunction with variable cognitive and behavioral abnormalities ⚠
- p.Ala772Val Single submitter ⚠
- p.Ala782Thr Single submitter ⚠
- p.Ala806Thr Single submitter ⚠
- p.Ala824Thr Single submitter ⚠
- p.Ala880Thr Single submitter ⚠
- p.Ala900Gly Single submitter ⚠
- p.Ala900Pro Single submitter ⚠
- p.Ala986Asp Single submitter ⚠
- p.Arg1008Gln Single submitter ⚠
- p.Arg1060Gln Single submitter ⚠
- p.Arg1065Gln Single submitter ⚠
- p.Arg1080His Single submitter ⚠
- p.Arg1083Gln Single submitter ⚠
- p.Arg1120Pro Single submitter ⚠
- p.Arg1155Ser Single submitter ⚠
- p.Arg1180Gly Single submitter ⚠
- p.Arg1184= Single submitter
- p.Arg170His Single submitter ⚠
- p.Arg171Gln Single submitter ⚠
- p.Arg178Gln Single submitter ⚠
- p.Arg178Gly Single submitter ⚠
- p.Arg178Trp Single submitter ⚠
- p.Arg257Gln Single submitter ⚠
- p.Arg315Gln Single submitter ⚠
- p.Arg334Trp Single submitter ⚠
- p.Arg386Lys Single submitter ⚠
- p.Arg40Gln Single submitter ⚠
- p.Arg584Cys Single submitter ⚠
- p.Arg694His Single submitter ⚠
- p.Arg702His Single submitter ⚠
- p.Arg710Gln Single submitter ⚠
- p.Arg710Trp Single submitter ⚠
- p.Arg725Cys Single submitter ⚠
- p.Arg725His Single submitter ⚠
- p.Arg777His Single submitter ⚠
- p.Arg777Pro Single submitter ⚠
- p.Arg791His Single submitter ⚠
- p.Arg804Cys Single submitter ⚠
- p.Arg804Leu Single submitter ⚠
- p.Arg807His Single submitter ⚠
- p.Arg953Leu Single submitter ⚠
- p.Arg970Gln Single submitter ⚠
- p.Arg970Pro Single submitter ⚠
- p.Arg970Trp Single submitter ⚠
- p.Arg972Trp Single submitter ⚠
- p.Asn1189= Single submitter
- p.Asn2Thr Single submitter ⚠
- p.Asn751Thr Single submitter ⚠
- p.Asp667Asn Single submitter ⚠
- p.Asp897Gly Single submitter ⚠
- p.Asp925Tyr Single submitter ⚠
- p.Cys63Arg Single submitter ⚠
- p.Gln813Glu Single submitter ⚠
- p.Glu1003Lys Single submitter ⚠
- p.Glu1044Lys Single submitter ⚠
- p.Glu1191Gln Single submitter ⚠
- p.Glu363Lys Single submitter ⚠
- p.Glu402Lys Single submitter ⚠
- p.Glu517Lys Single submitter ⚠
- p.Glu559Lys Single submitter ⚠
- p.Glu562Lys Single submitter ⚠
- p.Glu591Asp Single submitter ⚠
- p.Glu643Gln Single submitter ⚠
- p.Glu646Lys Single submitter ⚠
- p.Glu728Lys Single submitter ⚠
- p.Glu746Asp Single submitter ⚠
- p.Glu746Gln Single submitter ⚠
- p.Glu948Lys Single submitter ⚠
- p.Glu964Gln Single submitter ⚠
- p.Glu964Lys Single submitter ⚠
- p.Gly1158= Single submitter
- p.Gly1194= Single submitter
- p.Gly183Ala Single submitter ⚠
- p.Gly197Arg Single submitter ⚠
- p.Gly231Arg Single submitter ⚠
- p.Gly317Val Single submitter ⚠
- p.Gly322Asp Single submitter ⚠
- p.Gly392Val Single submitter ⚠
- p.Gly395Arg Single submitter ⚠
- p.Gly722Ser Single submitter ⚠
- p.Gly848Asp Single submitter ⚠
- p.Gly882Arg Single submitter ⚠
- p.Gly882Asp Single submitter ⚠
- p.Gly887Cys Single submitter ⚠
- p.His1146Gln Single submitter ⚠
- p.His15Leu Single submitter ⚠
- p.His563Arg Single submitter ⚠
- p.His705Arg Single submitter ⚠
- p.His802Pro Single submitter ⚠
- p.Ile276Met Single submitter ⚠
- p.Ile444Leu Single submitter ⚠
- p.Ile462Thr Single submitter ⚠
- p.Ile727Leu Single submitter ⚠
- p.Leu1048Met Single submitter ⚠
- p.Leu356Trp Single submitter ⚠
- p.Leu884Pro Single submitter ⚠
- p.Lys1086Arg Single submitter ⚠
- p.Lys157Arg Single submitter ⚠
- p.Lys22Arg Single submitter ⚠
- p.Lys285Arg Single submitter ⚠
- p.Lys904Asn Single submitter ⚠
- p.Met510Thr Single submitter ⚠
- p.Met691Thr Single submitter ⚠
- p.Met876Thr Single submitter ⚠
- p.Met939Val Single submitter ⚠
- p.Met969Leu Single submitter ⚠
- p.Met969Val Single submitter ⚠
- p.Phe709Leu Single submitter ⚠
- p.Pro1001Ala Single submitter ⚠
- p.Pro1005Ser Single submitter ⚠
- p.Pro1017Ser Single submitter ⚠
- p.Pro222Ser Single submitter ⚠
- p.Pro270Ala Single submitter ⚠
- p.Pro280Ala Single submitter ⚠
- p.Pro280Ser Single submitter ⚠
- p.Pro309Arg Single submitter ⚠
- p.Pro32Arg Single submitter ⚠
- p.Pro340Ala Single submitter ⚠
- p.Pro368Ser Single submitter ⚠
- p.Pro415Arg Single submitter ⚠
- p.Pro429Leu Single submitter ⚠
- p.Pro460Ala Single submitter ⚠
- p.Pro465Ser Single submitter ⚠
- p.Pro469Leu Single submitter ⚠
- p.Pro475Leu Single submitter ⚠
- p.Pro492His Single submitter ⚠
- p.Pro522Ser Single submitter ⚠
- p.Pro540Leu Single submitter ⚠
- p.Pro556Leu Single submitter ⚠
- p.Pro580Ala Single submitter ⚠
- p.Pro580Leu Single submitter ⚠
- p.Pro817Thr Single submitter ⚠
- p.Pro865Leu Single submitter ⚠
- p.Ser160Arg Single submitter ⚠
- p.Ser291Cys Single submitter ⚠
- p.Ser520Arg Single submitter ⚠
- p.Ser624Ile Single submitter ⚠
- p.Ser713Asn Single submitter ⚠
- p.Ser784Gly Single submitter ⚠
- p.Ser784Thr Single submitter ⚠
- p.Ser818Leu Single submitter ⚠
- p.Ser843Leu Single submitter ⚠
- p.Ser846Trp Single submitter ⚠
- p.Ser851Pro Single submitter ⚠
- p.Ser872Phe Single submitter ⚠
- p.Thr100Ile Single submitter ⚠
- p.Thr245Met Single submitter ⚠
- p.Thr341Ile Single submitter ⚠
- p.Thr7Ile Single submitter ⚠
- p.Thr875Ser Single submitter ⚠
- p.Tyr898Cys Single submitter ⚠
- p.Val493Ala Single submitter ⚠
- p.Val493Ile Single submitter ⚠
- p.Val493Phe Single submitter ⚠
- p.Val578Ile Single submitter ⚠
- p.Val684Ile Single submitter ⚠
- p.Val686Asp Single submitter ⚠
- p.Val852Ile Single submitter ⚠
- p.Val852Phe Single submitter ⚠
- p.Val960Leu Single submitter ⚠
- p.Val960Met Single submitter ⚠
- c.-107G>A No assertion criteria