CACTIN — 83 ClinVar variants
All ClinVar germline CACTIN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 78 flagged for review →
6 Likely benign · 77 Uncertain significance
Full CACTIN gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 78
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 30
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CACTIN p.Ala100Ser Uncertain significance Single submitter
- CACTIN p.Ala119Val Uncertain significance Single submitter
- CACTIN p.Arg256Gln Uncertain significance Single submitter
- CACTIN p.Arg301Gln Uncertain significance Single submitter
- CACTIN p.Arg301Trp Uncertain significance Single submitter
- CACTIN p.Arg304Trp Uncertain significance Single submitter
- CACTIN p.Arg733Cys Uncertain significance Single submitter
- CACTIN p.Asp579Glu Uncertain significance Single submitter
- CACTIN p.Asp687Asn Uncertain significance Single submitter
- CACTIN p.Gln488Arg Uncertain significance Single submitter
- CACTIN p.Gln488His Uncertain significance Single submitter
- CACTIN p.Gln488Leu Uncertain significance Single submitter
- CACTIN p.Gln591Leu Uncertain significance Single submitter
- CACTIN p.Gln94His Uncertain significance Single submitter
- CACTIN p.Glu475Gly Uncertain significance Single submitter
- CACTIN p.Glu495Gln Uncertain significance Single submitter
- CACTIN p.Glu62Asp Uncertain significance Single submitter
- CACTIN p.Gly122Glu Uncertain significance Single submitter
- CACTIN p.Gly303Arg Uncertain significance Single submitter
- CACTIN p.Gly511Ser Uncertain significance Single submitter
- CACTIN p.Gly557Ser Uncertain significance Single submitter
- CACTIN p.Gly84Glu Uncertain significance Single submitter
- CACTIN p.Lys358Arg Uncertain significance Single submitter
- CACTIN p.Lys611Arg Uncertain significance Single submitter
- CACTIN p.Lys611Gln Uncertain significance Single submitter
- CACTIN p.Met542Val Uncertain significance Single submitter
- CACTIN p.Pro503Arg Uncertain significance Single submitter
- CACTIN p.Ser139Arg Uncertain significance Single submitter
- CACTIN p.Thr5Arg Uncertain significance Single submitter
- CACTIN p.Trp99Arg Uncertain significance Single submitter
Predictors split 48
The independent predictors disagree with each other — read with care.
- CACTIN p.Ala130Ser Uncertain significance Single submitter
- CACTIN p.Ala131Val Uncertain significance Single submitter
- CACTIN p.Ala317Thr Uncertain significance Single submitter
- CACTIN p.Ala427Thr Uncertain significance Single submitter
- CACTIN p.Ala500Val Uncertain significance Single submitter
- CACTIN p.Arg102Gln Uncertain significance Single submitter
- CACTIN p.Arg104Gln Uncertain significance Single submitter
- CACTIN p.Arg105Cys Uncertain significance Single submitter
- CACTIN p.Arg105His Uncertain significance Single submitter
- CACTIN p.Arg107His Uncertain significance Single submitter
- CACTIN p.Arg123Gln Uncertain significance Single submitter
- CACTIN p.Arg128Trp Uncertain significance Single submitter
- CACTIN p.Arg143Trp Uncertain significance Single submitter
- CACTIN p.Arg147Gln Uncertain significance Single submitter
- CACTIN p.Arg14Cys Uncertain significance Single submitter
- CACTIN p.Arg14Pro Uncertain significance Single submitter
- CACTIN p.Arg150Trp Uncertain significance Single submitter
- CACTIN p.Arg17Leu Uncertain significance Single submitter
- CACTIN p.Arg232Gln Uncertain significance Single submitter
- CACTIN p.Arg3Trp Uncertain significance Single submitter
- CACTIN p.Arg40Trp Uncertain significance Single submitter
- CACTIN p.Arg50Trp Uncertain significance Single submitter
- CACTIN p.Arg562Trp Uncertain significance Single submitter
- CACTIN p.Arg608Trp Uncertain significance Single submitter
- CACTIN p.Arg66His Likely benign Single submitter
- CACTIN p.Arg76Gln Uncertain significance Single submitter
- CACTIN p.Arg96Gln Uncertain significance Single submitter
- CACTIN p.Arg96Trp Uncertain significance Single submitter
- CACTIN p.Asn205Ser Uncertain significance Single submitter
- CACTIN p.Asn431Ser Uncertain significance Single submitter
- CACTIN p.Asp321Asn Uncertain significance Single submitter
- CACTIN p.Asp321Glu Uncertain significance Single submitter
- CACTIN p.Asp528Gly Uncertain significance Single submitter
- CACTIN p.Glu183Gly Uncertain significance Single submitter
- CACTIN p.Glu231Lys Uncertain significance Single submitter
- CACTIN p.Glu346Asp Uncertain significance Single submitter
- CACTIN p.Glu422Lys Uncertain significance Single submitter
- CACTIN p.Glu471Gln Uncertain significance Single submitter
- CACTIN p.His711Gln Uncertain significance Single submitter
- CACTIN p.Lys272Arg Uncertain significance Single submitter
- CACTIN p.Lys722Arg Uncertain significance Single submitter
- CACTIN p.Pro481Ser Uncertain significance Single submitter
- CACTIN p.Pro75Leu Uncertain significance Single submitter
- CACTIN p.Ser126Arg Uncertain significance Single submitter
- CACTIN p.Ser135Asn Uncertain significance Single submitter
- CACTIN p.Ser25Ile Uncertain significance Single submitter
- CACTIN p.Ser86Phe Uncertain significance Single submitter
- CACTIN p.Thr370Ser Uncertain significance Single submitter
All CACTIN variants
Likely benign 6
- p.Ala106Thr Single submitter
- p.Arg66His Single submitter ⚠
- p.Lys78Arg Single submitter
- p.Pro163= Single submitter
- p.Thr368Ile Single submitter
- p.Val517Ala Single submitter
Uncertain significance 77
- p.Ala100Ser Single submitter ⚠
- p.Ala119Val Single submitter ⚠
- p.Ala130Ser Single submitter ⚠
- p.Ala131Val Single submitter ⚠
- p.Ala317Thr Single submitter ⚠
- p.Ala427Thr Single submitter ⚠
- p.Ala500Val Single submitter ⚠
- p.Arg102Gln Single submitter ⚠
- p.Arg104Gln Single submitter ⚠
- p.Arg105Cys Single submitter ⚠
- p.Arg105His Single submitter ⚠
- p.Arg107His Single submitter ⚠
- p.Arg123Gln Single submitter ⚠
- p.Arg128Trp Single submitter ⚠
- p.Arg143Trp Single submitter ⚠
- p.Arg147Gln Single submitter ⚠
- p.Arg14Cys Single submitter ⚠
- p.Arg14Pro Single submitter ⚠
- p.Arg150Trp Single submitter ⚠
- p.Arg17Leu Single submitter ⚠
- p.Arg232Gln Single submitter ⚠
- p.Arg256Gln Single submitter ⚠
- p.Arg301Gln Single submitter ⚠
- p.Arg301Trp Single submitter ⚠
- p.Arg304Trp Single submitter ⚠
- p.Arg3Trp Single submitter ⚠
- p.Arg40Trp Single submitter ⚠
- p.Arg50Trp Single submitter ⚠
- p.Arg562Trp Single submitter ⚠
- p.Arg608Trp Single submitter ⚠
- p.Arg733Cys Single submitter ⚠
- p.Arg76Gln Single submitter ⚠
- p.Arg96Gln Single submitter ⚠
- p.Arg96Trp Single submitter ⚠
- p.Asn205Ser Single submitter ⚠
- p.Asn431Ser Single submitter ⚠
- p.Asp321Asn Single submitter ⚠
- p.Asp321Glu Single submitter ⚠
- p.Asp528Gly Single submitter ⚠
- p.Asp579Glu Single submitter ⚠
- p.Asp687Asn Single submitter ⚠
- p.Gln488Arg Single submitter ⚠
- p.Gln488His Single submitter ⚠
- p.Gln488Leu Single submitter ⚠
- p.Gln591Leu Single submitter ⚠
- p.Gln94His Single submitter ⚠
- p.Glu183Gly Single submitter ⚠
- p.Glu231Lys Single submitter ⚠
- p.Glu346Asp Single submitter ⚠
- p.Glu422Lys Single submitter ⚠
- p.Glu471Gln Single submitter ⚠
- p.Glu475Gly Single submitter ⚠
- p.Glu495Gln Single submitter ⚠
- p.Glu62Asp Single submitter ⚠
- p.Gly122Glu Single submitter ⚠
- p.Gly303Arg Single submitter ⚠
- p.Gly511Ser Single submitter ⚠
- p.Gly557Ser Single submitter ⚠
- p.Gly84Glu Single submitter ⚠
- p.His711Gln Single submitter ⚠
- p.Lys272Arg Single submitter ⚠
- p.Lys358Arg Single submitter ⚠
- p.Lys611Arg Single submitter ⚠
- p.Lys611Gln Single submitter ⚠
- p.Lys722Arg Single submitter ⚠
- p.Met542Val Single submitter ⚠
- p.Pro481Ser Single submitter ⚠
- p.Pro503Arg Single submitter ⚠
- p.Pro75Leu Single submitter ⚠
- p.Ser126Arg Single submitter ⚠
- p.Ser135Asn Single submitter ⚠
- p.Ser139Arg Single submitter ⚠
- p.Ser25Ile Single submitter ⚠
- p.Ser86Phe Single submitter ⚠
- p.Thr370Ser Single submitter ⚠
- p.Thr5Arg Single submitter ⚠
- p.Trp99Arg Single submitter ⚠