C1QTNF12 — 96 ClinVar variants
All ClinVar germline C1QTNF12 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 90 flagged for review →
3 Benign · 5 Likely benign · 88 Uncertain significance
Full C1QTNF12 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 90
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 40
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- C1QTNF12 p.Ala291Glu Uncertain significance Single submitter
- C1QTNF12 p.Ala48Pro Uncertain significance Single submitter
- C1QTNF12 p.Ala86Thr Uncertain significance Single submitter
- C1QTNF12 p.Arg132Gln Uncertain significance Single submitter
- C1QTNF12 p.Arg148Gln Uncertain significance Single submitter
- C1QTNF12 p.Arg157Gln Uncertain significance Single submitter
- C1QTNF12 p.Arg162Ser Uncertain significance Single submitter
- C1QTNF12 p.Arg163Gln Uncertain significance Single submitter
- C1QTNF12 p.Arg167Gln Uncertain significance Single submitter
- C1QTNF12 p.Arg196Gln Uncertain significance Single submitter
- C1QTNF12 p.Arg242His Uncertain significance Single submitter
- C1QTNF12 p.Arg51Leu Uncertain significance Single submitter
- C1QTNF12 p.Arg80Gln Uncertain significance Single submitter
- C1QTNF12 p.Asn281Asp Uncertain significance Single submitter
- C1QTNF12 p.Asp40Val Uncertain significance Single submitter
- C1QTNF12 p.Asp84Gly Uncertain significance Single submitter
- C1QTNF12 p.Asp95His Uncertain significance Single submitter
- C1QTNF12 p.Cys156Tyr Uncertain significance Single submitter
- C1QTNF12 p.Gln262Pro Uncertain significance Single submitter
- C1QTNF12 p.Glu123Lys Uncertain significance Single submitter
- C1QTNF12 p.Glu52Lys Uncertain significance Single submitter
- C1QTNF12 p.Gly144Arg Uncertain significance Single submitter
- C1QTNF12 p.Gly297Arg Uncertain significance Single submitter
- C1QTNF12 p.Gly301Arg Uncertain significance Single submitter
- C1QTNF12 p.Gly301Ser Uncertain significance Single submitter
- C1QTNF12 p.His72Arg Uncertain significance Single submitter
- C1QTNF12 p.Ile204Val Uncertain significance Single submitter
- C1QTNF12 p.Leu137Val Uncertain significance Single submitter
- C1QTNF12 p.Leu140Gln Uncertain significance Single submitter
- C1QTNF12 p.Leu17Val Uncertain significance Single submitter
- C1QTNF12 p.Leu19Val Uncertain significance Single submitter
- C1QTNF12 p.Leu20Pro Uncertain significance Single submitter
- C1QTNF12 p.Leu54Val Uncertain significance Single submitter
- C1QTNF12 p.Lys166Arg Uncertain significance Single submitter
- C1QTNF12 p.Met73Val Uncertain significance Single submitter
- C1QTNF12 p.Phe78Ser Uncertain significance Single submitter
- C1QTNF12 p.Pro139Leu Uncertain significance Single submitter
- C1QTNF12 p.Pro41Thr Uncertain significance Single submitter
- C1QTNF12 p.Ser276Tyr Uncertain significance Single submitter
- C1QTNF12 p.Val170Leu Uncertain significance Single submitter
Predictors split 50
The independent predictors disagree with each other — read with care.
- C1QTNF12 p.Ala145Val Likely benign Single submitter
- C1QTNF12 p.Ala291Val Uncertain significance Single submitter
- C1QTNF12 p.Ala71Thr Uncertain significance Single submitter
- C1QTNF12 p.Arg131Cys Uncertain significance Single submitter
- C1QTNF12 p.Arg131His Likely benign Single submitter
- C1QTNF12 p.Arg132Trp Uncertain significance Single submitter
- C1QTNF12 p.Arg148Trp Uncertain significance Single submitter
- C1QTNF12 p.Arg157Trp Uncertain significance Single submitter
- C1QTNF12 p.Arg162Cys Uncertain significance Single submitter
- C1QTNF12 p.Arg196Gly Uncertain significance Single submitter
- C1QTNF12 p.Arg223Gln Uncertain significance Single submitter
- C1QTNF12 p.Arg223Trp Uncertain significance Single submitter
- C1QTNF12 p.Arg225Gln Uncertain significance Single submitter
- C1QTNF12 p.Arg225Trp Uncertain significance Single submitter
- C1QTNF12 p.Arg227Gln Uncertain significance Single submitter
- C1QTNF12 p.Arg27Trp Uncertain significance Single submitter
- C1QTNF12 p.Arg3His Uncertain significance Single submitter
- C1QTNF12 p.Arg51Cys Uncertain significance Single submitter
- C1QTNF12 p.Arg80Gly Uncertain significance Single submitter
- C1QTNF12 p.Arg80Pro Uncertain significance Single submitter
- C1QTNF12 p.Arg80Trp Uncertain significance Single submitter
- C1QTNF12 p.Arg81Trp Uncertain significance Single submitter
- C1QTNF12 p.Arg90Trp Uncertain significance Single submitter
- C1QTNF12 p.Asp214Ala Uncertain significance Single submitter
- C1QTNF12 p.Glu115Lys Uncertain significance Single submitter
- C1QTNF12 p.Glu237Lys Uncertain significance Single submitter
- C1QTNF12 p.Gly106Arg Uncertain significance Single submitter
- C1QTNF12 p.Gly189Ser Uncertain significance Single submitter
- C1QTNF12 p.Gly203Ser Uncertain significance Single submitter
- C1QTNF12 p.Gly203Val Uncertain significance Single submitter
- C1QTNF12 p.Gly220Val Uncertain significance Single submitter
- C1QTNF12 p.Gly24Val Uncertain significance Single submitter
- C1QTNF12 p.Gly284Arg Uncertain significance Single submitter
- C1QTNF12 p.Gly85Cys Uncertain significance Single submitter
- C1QTNF12 p.Leu172Val Uncertain significance Single submitter
- C1QTNF12 p.Leu17Phe Uncertain significance Single submitter
- C1QTNF12 p.Pro105Arg Uncertain significance Single submitter
- C1QTNF12 p.Pro105Ser Uncertain significance Single submitter
- C1QTNF12 p.Ser194Leu Uncertain significance Single submitter
- C1QTNF12 p.Ser216Ile Uncertain significance Single submitter
- C1QTNF12 p.Ser254Asn Uncertain significance Single submitter
- C1QTNF12 p.Thr116Ile Uncertain significance Single submitter
- C1QTNF12 p.Thr168Met Uncertain significance Single submitter
- C1QTNF12 p.Thr198Ala Uncertain significance Single submitter
- C1QTNF12 p.Thr260Met Uncertain significance Single submitter
- C1QTNF12 p.Thr288Ile Uncertain significance Single submitter
- C1QTNF12 p.Val11Ile Uncertain significance Single submitter
- C1QTNF12 p.Val201Met Uncertain significance Single submitter
- C1QTNF12 p.Val213Met Uncertain significance Single submitter
- C1QTNF12 p.Val23Ile Uncertain significance Single submitter
All C1QTNF12 variants
Benign 3
- p.Glu253= Multiple submitters
- p.Leu261Val Multiple submitters
- p.Val286Ile Multiple submitters
Likely benign 5
- p.Ala145Val Single submitter ⚠
- p.Arg131His Single submitter ⚠
- p.Gly85Ser Single submitter
- p.Pro98Leu Single submitter
- p.Pro98Ser Single submitter
Uncertain significance 88
- p.Ala291Glu Single submitter ⚠
- p.Ala291Val Single submitter ⚠
- p.Ala48Pro Single submitter ⚠
- p.Ala71Thr Single submitter ⚠
- p.Ala86Thr Single submitter ⚠
- p.Arg131Cys Single submitter ⚠
- p.Arg132Gln Single submitter ⚠
- p.Arg132Trp Single submitter ⚠
- p.Arg148Gln Single submitter ⚠
- p.Arg148Trp Single submitter ⚠
- p.Arg157Gln Single submitter ⚠
- p.Arg157Trp Single submitter ⚠
- p.Arg162Cys Single submitter ⚠
- p.Arg162Ser Single submitter ⚠
- p.Arg163Gln Single submitter ⚠
- p.Arg167Gln Single submitter ⚠
- p.Arg196Gln Single submitter ⚠
- p.Arg196Gly Single submitter ⚠
- p.Arg223Gln Single submitter ⚠
- p.Arg223Trp Single submitter ⚠
- p.Arg225Gln Single submitter ⚠
- p.Arg225Trp Single submitter ⚠
- p.Arg227Gln Single submitter ⚠
- p.Arg242His Single submitter ⚠
- p.Arg27Trp Single submitter ⚠
- p.Arg3His Single submitter ⚠
- p.Arg51Cys Single submitter ⚠
- p.Arg51Leu Single submitter ⚠
- p.Arg80Gln Single submitter ⚠
- p.Arg80Gly Single submitter ⚠
- p.Arg80Pro Single submitter ⚠
- p.Arg80Trp Single submitter ⚠
- p.Arg81Trp Single submitter ⚠
- p.Arg90Trp Single submitter ⚠
- p.Asn281Asp Single submitter ⚠
- p.Asp214Ala Single submitter ⚠
- p.Asp40Val Single submitter ⚠
- p.Asp84Gly Single submitter ⚠
- p.Asp95His Single submitter ⚠
- p.Cys156Tyr Single submitter ⚠
- p.Gln262Pro Single submitter ⚠
- p.Glu115Lys Single submitter ⚠
- p.Glu123Lys Single submitter ⚠
- p.Glu237Lys Single submitter ⚠
- p.Glu52Lys Single submitter ⚠
- p.Gly106Arg Single submitter ⚠
- p.Gly144Arg Single submitter ⚠
- p.Gly189Ser Single submitter ⚠
- p.Gly203Ser Single submitter ⚠
- p.Gly203Val Single submitter ⚠
- p.Gly220Val Single submitter ⚠
- p.Gly24Val Single submitter ⚠
- p.Gly284Arg Single submitter ⚠
- p.Gly297Arg Single submitter ⚠
- p.Gly301Arg Single submitter ⚠
- p.Gly301Ser Single submitter ⚠
- p.Gly85Cys Single submitter ⚠
- p.His72Arg Single submitter ⚠
- p.Ile204Val Single submitter ⚠
- p.Leu137Val Single submitter ⚠
- p.Leu140Gln Single submitter ⚠
- p.Leu172Val Single submitter ⚠
- p.Leu17Phe Single submitter ⚠
- p.Leu17Val Single submitter ⚠
- p.Leu19Val Single submitter ⚠
- p.Leu20Pro Single submitter ⚠
- p.Leu54Val Single submitter ⚠
- p.Lys166Arg Single submitter ⚠
- p.Met73Val Single submitter ⚠
- p.Phe78Ser Single submitter ⚠
- p.Pro105Arg Single submitter ⚠
- p.Pro105Ser Single submitter ⚠
- p.Pro139Leu Single submitter ⚠
- p.Pro41Thr Single submitter ⚠
- p.Ser194Leu Single submitter ⚠
- p.Ser216Ile Single submitter ⚠
- p.Ser254Asn Single submitter ⚠
- p.Ser276Tyr Single submitter ⚠
- p.Thr116Ile Single submitter ⚠
- p.Thr168Met Single submitter ⚠
- p.Thr198Ala Single submitter ⚠
- p.Thr260Met Single submitter ⚠
- p.Thr288Ile Single submitter ⚠
- p.Val11Ile Single submitter ⚠
- p.Val170Leu Single submitter ⚠
- p.Val201Met Single submitter ⚠
- p.Val213Met Single submitter ⚠
- p.Val23Ile Single submitter ⚠