PCSK7 — 109 ClinVar variants
All ClinVar germline PCSK7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 94 flagged for review →
2 Benign · 9 Likely benign · 98 Uncertain significance
Full PCSK7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 94
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 71
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
PCSK7 p.Arg560Gly
Uncertain significance
Multiple submitters
Midline facial cleft
-
PCSK7 p.Lys545Thr
Uncertain significance
Multiple submitters
skin tag
- PCSK7 p.Ala26Thr Uncertain significance Single submitter
- PCSK7 p.Ala475Thr Uncertain significance Single submitter
- PCSK7 p.Ala558Thr Uncertain significance Single submitter
- PCSK7 p.Ala80Thr Uncertain significance Single submitter
- PCSK7 p.Arg114Gln Uncertain significance Single submitter
- PCSK7 p.Arg128His Uncertain significance Single submitter
- PCSK7 p.Arg160Gln Uncertain significance Single submitter
- PCSK7 p.Arg160Trp Uncertain significance Single submitter
- PCSK7 p.Arg174His Uncertain significance Single submitter
- PCSK7 p.Arg179Gln Uncertain significance Single submitter
- PCSK7 p.Arg254Leu Uncertain significance Single submitter
- PCSK7 p.Arg383Gln Uncertain significance Single submitter
- PCSK7 p.Arg445Gly Uncertain significance Single submitter
- PCSK7 p.Arg539His Uncertain significance Single submitter
- PCSK7 p.Arg709Gln Uncertain significance Single submitter
- PCSK7 p.Arg739Ser Uncertain significance Single submitter
- PCSK7 p.Asn146Ser Uncertain significance Single submitter
- PCSK7 p.Asn175Ser Uncertain significance Single submitter
- PCSK7 p.Asn212Ser Uncertain significance Single submitter
- PCSK7 p.Asn242Asp Uncertain significance Single submitter
- PCSK7 p.Asn763Thr Uncertain significance Single submitter
- PCSK7 p.Asp64Asn Uncertain significance Single submitter
- PCSK7 p.Cys20Tyr Uncertain significance Single submitter
- PCSK7 p.Cys673Ser Uncertain significance Single submitter
- PCSK7 p.Cys785Tyr Uncertain significance Single submitter
- PCSK7 p.Gln72His Uncertain significance Single submitter
- PCSK7 p.Gln762Glu Uncertain significance Single submitter
- PCSK7 p.Gln783His Uncertain significance Single submitter
- PCSK7 p.Glu204Lys Uncertain significance Single submitter
- PCSK7 p.Glu223Lys Uncertain significance Single submitter
- PCSK7 p.Glu518Gln Uncertain significance Single submitter
- PCSK7 p.Glu67Lys Uncertain significance Single submitter
- PCSK7 p.Glu733Lys Uncertain significance Single submitter
-
PCSK7 p.Gly205Ser
Uncertain significance
Single submitter
hereditary breast ovarian cancer syndrome
- PCSK7 p.Gly289Glu Uncertain significance Single submitter
- PCSK7 p.Gly358Glu Uncertain significance Single submitter
- PCSK7 p.Gly42Ser Uncertain significance Single submitter
- PCSK7 p.Gly50Glu Uncertain significance Single submitter
- PCSK7 p.Gly63Ser Uncertain significance Single submitter
- PCSK7 p.His10Arg Uncertain significance Single submitter
- PCSK7 p.His536Gln Uncertain significance Single submitter
- PCSK7 p.Lys394Glu Uncertain significance Single submitter
- PCSK7 p.Lys712Gln Uncertain significance Single submitter
- PCSK7 p.Met360Val Uncertain significance Single submitter
- PCSK7 p.Met552Thr Uncertain significance Single submitter
- PCSK7 p.Met553Ile Uncertain significance Single submitter
- PCSK7 p.Pro101Ala Uncertain significance Single submitter
- PCSK7 p.Pro151Leu Uncertain significance Single submitter
- PCSK7 p.Pro240Ser Uncertain significance Single submitter
- PCSK7 p.Pro290Ala Uncertain significance Single submitter
- PCSK7 p.Pro2Leu Uncertain significance Single submitter
- PCSK7 p.Pro559Arg Uncertain significance Single submitter
- PCSK7 p.Pro750Ser Uncertain significance Single submitter
- PCSK7 p.Ser161Ile Uncertain significance Single submitter
- PCSK7 p.Ser384Gly Uncertain significance Single submitter
- PCSK7 p.Ser618Thr Uncertain significance Single submitter
- PCSK7 p.Ser695Pro Uncertain significance Single submitter
- PCSK7 p.Thr743Ile Uncertain significance Single submitter
- PCSK7 p.Trp390Cys Uncertain significance Single submitter
- PCSK7 p.Tyr363Cys Uncertain significance Single submitter
- PCSK7 p.Tyr442Cys Uncertain significance Single submitter
- PCSK7 p.Tyr687Cys Uncertain significance Single submitter
- PCSK7 p.Val110Ala Uncertain significance Single submitter
- PCSK7 p.Val185Ile Uncertain significance Single submitter
- PCSK7 p.Val349Ile Uncertain significance Single submitter
- PCSK7 p.Val373Ala Uncertain significance Single submitter
- PCSK7 p.Val431Ile Uncertain significance Single submitter
- PCSK7 p.Val669Ala Uncertain significance Single submitter
- PCSK7 p.Val84Met Uncertain significance Single submitter
Predictors split 23
The independent predictors disagree with each other — read with care.
- PCSK7 p.Ala273Val Uncertain significance Single submitter
- PCSK7 p.Ala372Thr Uncertain significance Single submitter
- PCSK7 p.Ala469Thr Uncertain significance Single submitter
- PCSK7 p.Arg114Gly Uncertain significance Single submitter
- PCSK7 p.Arg423Gln Uncertain significance Single submitter
- PCSK7 p.Arg606Trp Uncertain significance Single submitter
- PCSK7 p.Arg88His Uncertain significance Single submitter
- PCSK7 p.Asn452Ser Uncertain significance Single submitter
- PCSK7 p.Glu685Lys Uncertain significance Single submitter
- PCSK7 p.His227Asp Uncertain significance Single submitter
- PCSK7 p.His227Tyr Uncertain significance Single submitter
- PCSK7 p.Leu265Pro Uncertain significance Single submitter
- PCSK7 p.Leu467Phe Uncertain significance Single submitter
- PCSK7 p.Met217Thr Uncertain significance Single submitter
- PCSK7 p.Met217Val Uncertain significance Single submitter
- PCSK7 p.Pro424Arg Uncertain significance Single submitter
- PCSK7 p.Pro424Ser Uncertain significance Single submitter
- PCSK7 p.Thr350Ala Uncertain significance Single submitter
- PCSK7 p.Thr374Ala Uncertain significance Single submitter
- PCSK7 p.Thr438Ala Uncertain significance Single submitter
- PCSK7 p.Trp617Arg Uncertain significance Single submitter
- PCSK7 p.Tyr339Cys Uncertain significance Single submitter
- PCSK7 p.Val512Gly Uncertain significance Single submitter
All PCSK7 variants
Benign 2
- c.1786+7C>T Multiple submitters
- p.Pro777Leu Multiple submitters
Likely benign 9
- p.Leu590= Multiple submitters
- p.Arg446His Single submitter
- p.Arg593= Single submitter
- p.His527= Single submitter
- p.His639= Single submitter
- p.Lys149= Single submitter
- p.Phe600Leu Single submitter
- p.Thr49Pro Single submitter
- p.Arg159Ter No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
Uncertain significance 98
- p.Arg560Gly Multiple submitters Midline facial cleft ⚠
- p.Lys545Thr Multiple submitters skin tag ⚠
- c.1691+1G>A Single submitter
- p.Ala26Thr Single submitter ⚠
- p.Ala273Val Single submitter ⚠
- p.Ala372Thr Single submitter ⚠
- p.Ala469Thr Single submitter ⚠
- p.Ala475Thr Single submitter ⚠
- p.Ala558Thr Single submitter ⚠
- p.Ala74Val Single submitter
- p.Ala80Thr Single submitter ⚠
- p.Arg114Gln Single submitter ⚠
- p.Arg114Gly Single submitter ⚠
- p.Arg128His Single submitter ⚠
- p.Arg160Gln Single submitter ⚠
- p.Arg160Trp Single submitter ⚠
- p.Arg174His Single submitter ⚠
- p.Arg179Gln Single submitter ⚠
- p.Arg254Leu Single submitter ⚠
- p.Arg383Gln Single submitter ⚠
- p.Arg423Gln Single submitter ⚠
- p.Arg445Gly Single submitter ⚠
- p.Arg539His Single submitter ⚠
- p.Arg606Trp Single submitter ⚠
- p.Arg709Gln Single submitter ⚠
- p.Arg739Ser Single submitter ⚠
- p.Arg88His Single submitter ⚠
- p.Asn146Ser Single submitter ⚠
- p.Asn175Ser Single submitter ⚠
- p.Asn212Ser Single submitter ⚠
- p.Asn242Asp Single submitter ⚠
- p.Asn452Ser Single submitter ⚠
- p.Asn763Thr Single submitter ⚠
- p.Asp282Asn Single submitter
- p.Asp64Asn Single submitter ⚠
- p.Cys20Tyr Single submitter ⚠
- p.Cys673Ser Single submitter ⚠
- p.Cys785Tyr Single submitter ⚠
- p.Gln72His Single submitter ⚠
- p.Gln762Glu Single submitter ⚠
- p.Gln783His Single submitter ⚠
- p.Glu204Lys Single submitter ⚠
- p.Glu223Lys Single submitter ⚠
- p.Glu518Gln Single submitter ⚠
- p.Glu67Lys Single submitter ⚠
- p.Glu685Lys Single submitter ⚠
- p.Glu733Lys Single submitter ⚠
- p.Gly205Ser Single submitter hereditary breast ovarian cancer syndrome ⚠
- p.Gly289Glu Single submitter ⚠
- p.Gly358Glu Single submitter ⚠
- p.Gly42Ser Single submitter ⚠
- p.Gly50Glu Single submitter ⚠
- p.Gly63Ser Single submitter ⚠
- p.His10Arg Single submitter ⚠
- p.His227Asp Single submitter ⚠
- p.His227Tyr Single submitter ⚠
- p.His536Gln Single submitter ⚠
- p.Leu265Pro Single submitter ⚠
- p.Leu467Phe Single submitter ⚠
- p.Lys394Glu Single submitter ⚠
- p.Lys712Gln Single submitter ⚠
- p.Met217Thr Single submitter ⚠
- p.Met217Val Single submitter ⚠
- p.Met360Val Single submitter ⚠
- p.Met552Ile Single submitter
- p.Met552Thr Single submitter ⚠
- p.Met553Ile Single submitter ⚠
- p.Pro101Ala Single submitter ⚠
- p.Pro151Leu Single submitter ⚠
- p.Pro240Ser Single submitter ⚠
- p.Pro290Ala Single submitter ⚠
- p.Pro2Leu Single submitter ⚠
- p.Pro424Arg Single submitter ⚠
- p.Pro424Ser Single submitter ⚠
- p.Pro559Arg Single submitter ⚠
- p.Pro750Ser Single submitter ⚠
- p.Ser161Ile Single submitter ⚠
- p.Ser384Gly Single submitter ⚠
- p.Ser618Thr Single submitter ⚠
- p.Ser695Pro Single submitter ⚠
- p.Thr350Ala Single submitter ⚠
- p.Thr374Ala Single submitter ⚠
- p.Thr438Ala Single submitter ⚠
- p.Thr743Ile Single submitter ⚠
- p.Trp390Cys Single submitter ⚠
- p.Trp617Arg Single submitter ⚠
- p.Tyr339Cys Single submitter ⚠
- p.Tyr363Cys Single submitter ⚠
- p.Tyr442Cys Single submitter ⚠
- p.Tyr687Cys Single submitter ⚠
- p.Val110Ala Single submitter ⚠
- p.Val185Ile Single submitter ⚠
- p.Val349Ile Single submitter ⚠
- p.Val373Ala Single submitter ⚠
- p.Val431Ile Single submitter ⚠
- p.Val512Gly Single submitter ⚠
- p.Val669Ala Single submitter ⚠
- p.Val84Met Single submitter ⚠