HPCA — 64 ClinVar variants
All ClinVar germline HPCA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 26 flagged for review →
1 Pathogenic · 1 Conflicting · 3 Benign · 31 Likely benign · 28 Uncertain significance
Full HPCA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 26
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.
-
HPCA p.Asn75Lys
Conflicting
No assertion criteria
torsion dystonia 2
Predictors lean, ClinVar uncertain 18
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- HPCA p.Ala127Thr Uncertain significance Single submitter
-
HPCA p.Ala88Glu
Uncertain significance
Single submitter
torsion dystonia 2
- HPCA p.Arg118Gln Uncertain significance Single submitter
- HPCA p.Arg17Gln Uncertain significance Single submitter
- HPCA p.Arg96His Uncertain significance Single submitter
- HPCA p.Arg9Gln Uncertain significance Single submitter
- HPCA p.Arg9Trp Uncertain significance Single submitter
- HPCA p.Glu168Gln Uncertain significance Single submitter
- HPCA p.Gly114Ser Uncertain significance Single submitter
-
HPCA p.Gly172Arg
Uncertain significance
Single submitter
torsion dystonia 2
- HPCA p.Ile87Val Uncertain significance Single submitter
- HPCA p.Lys151Asn Uncertain significance Single submitter
- HPCA p.Met102Leu Uncertain significance Single submitter
- HPCA p.Met102Thr Uncertain significance Single submitter
- HPCA p.Phe55Leu Uncertain significance Single submitter
- HPCA p.Pro145Leu Uncertain significance Single submitter
- HPCA p.Pro177Ala Uncertain significance Single submitter
- HPCA p.Tyr115His Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- HPCA p.Arg181Ser Uncertain significance Single submitter
- HPCA p.Asp15Glu Uncertain significance Single submitter
- HPCA p.Gln184His Uncertain significance Single submitter
- HPCA p.Glu66Gly Uncertain significance Single submitter
- HPCA p.Gly112Ala Uncertain significance Single submitter
- HPCA p.Lys63Asn Uncertain significance Single submitter
- HPCA p.Ser90Asn Uncertain significance Single submitter
All HPCA variants
Pathogenic 1
- p.Thr71Asn No assertion criteria torsion dystonia 2
Conflicting classifications of pathogenicity 1
- p.Asn75Lys No assertion criteria torsion dystonia 2 ⚠
Benign 3
- c.379-16C>A Single submitter
- c.379-260C>T Single submitter
- c.484+15C>T Single submitter
Likely benign 31
- c.484+32G>C Multiple submitters
- c.378+19C>T Single submitter
- c.378+285del Single submitter
- c.378+8C>T Single submitter
- c.379-19C>T Single submitter
- c.379-217G>T Single submitter
- c.379-4C>A Single submitter
- c.484+11G>C Single submitter
- c.484+13G>A Single submitter
- c.*213T>C Single submitter
- p.Ala190Thr Single submitter torsion dystonia 2
- p.Ala53= Single submitter
- p.Ala65= Single submitter
- p.Ala88= Single submitter
- p.Arg94= Single submitter
- p.Asn113= Single submitter
- p.Asp111= Single submitter
- p.Asp60= Single submitter
- p.Glu84= Single submitter
- p.Glu98= Single submitter
- p.Gly41= Single submitter
- p.His67= Single submitter
- p.Ile124= Single submitter
- p.Leu183= Single submitter
- p.Lys100= Single submitter
- p.Phe193= Single submitter
- p.Pro177= Single submitter
- p.Ser133= Single submitter
- p.Ser76= Single submitter
- p.Ser93= Single submitter
- p.Tyr52= Single submitter
Uncertain significance 28
- p.Lys147Met Multiple submitters
- c.379-3C>T Single submitter
- c.-5C>T Single submitter
- p.Ala127Thr Single submitter ⚠
- p.Ala88Glu Single submitter torsion dystonia 2 ⚠
- p.Arg118Gln Single submitter ⚠
- p.Arg17Gln Single submitter ⚠
- p.Arg181Ser Single submitter ⚠
- p.Arg96His Single submitter ⚠
- p.Arg9Gln Single submitter ⚠
- p.Arg9Trp Single submitter ⚠
- p.Asp15Glu Single submitter ⚠
- p.Gln184His Single submitter ⚠
- p.Glu168Gln Single submitter ⚠
- p.Glu66Gly Single submitter ⚠
- p.Gly112Ala Single submitter ⚠
- p.Gly114Ser Single submitter ⚠
- p.Gly172Arg Single submitter torsion dystonia 2 ⚠
- p.Ile87Val Single submitter ⚠
- p.Lys151Asn Single submitter ⚠
- p.Lys63Asn Single submitter ⚠
- p.Met102Leu Single submitter ⚠
- p.Met102Thr Single submitter ⚠
- p.Phe55Leu Single submitter ⚠
- p.Pro145Leu Single submitter ⚠
- p.Pro177Ala Single submitter ⚠
- p.Ser90Asn Single submitter ⚠
- p.Tyr115His Single submitter ⚠