PAF1 — 51 ClinVar variants
All ClinVar germline PAF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 41 flagged for review →
7 Benign · 2 Likely benign · 42 Uncertain significance
Full PAF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 41
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 31
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PAF1 p.Ala282Val Uncertain significance Single submitter
- PAF1 p.Ala464Val Uncertain significance Single submitter
- PAF1 p.Ala500Gly Uncertain significance Single submitter
- PAF1 p.Arg336Trp Uncertain significance Single submitter
- PAF1 p.Arg471Lys Uncertain significance Single submitter
- PAF1 p.Asn487Ser Uncertain significance Single submitter
- PAF1 p.Asn97Ser Uncertain significance Single submitter
- PAF1 p.Asp468His Uncertain significance Single submitter
- PAF1 p.Asp514Asn Uncertain significance Single submitter
- PAF1 p.Gln473His Uncertain significance Single submitter
- PAF1 p.Gln475Glu Uncertain significance Single submitter
- PAF1 p.Glu111Asp Uncertain significance Single submitter
- PAF1 p.Glu390Ala Uncertain significance Single submitter
- PAF1 p.Glu390Asp Uncertain significance Single submitter
- PAF1 p.Glu390Lys Uncertain significance Single submitter
- PAF1 p.Glu419Gln Uncertain significance Single submitter
- PAF1 p.Glu438Asp Uncertain significance Single submitter
- PAF1 p.Gly14Ser Uncertain significance Single submitter
- PAF1 p.Gly423Asp Uncertain significance Single submitter
- PAF1 p.Gly472Arg Uncertain significance Single submitter
- PAF1 p.Gly489Ser Uncertain significance Single submitter
- PAF1 p.Ile146Leu Uncertain significance Single submitter
- PAF1 p.Ile5Val Uncertain significance Single submitter
- PAF1 p.Lys119Arg Uncertain significance Single submitter
- PAF1 p.Lys290Arg Uncertain significance Single submitter
- PAF1 p.Lys305Glu Uncertain significance Single submitter
- PAF1 p.Ser439Asn Uncertain significance Single submitter
- PAF1 p.Ser478Gly Uncertain significance Single submitter
- PAF1 p.Ser493Gly Uncertain significance Single submitter
- PAF1 p.Ser524Asn Uncertain significance Single submitter
- PAF1 p.Thr232Met Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- PAF1 p.Arg93Leu Uncertain significance Single submitter
- PAF1 p.Gln113Arg Uncertain significance Single submitter
- PAF1 p.Gly318Asp Uncertain significance Single submitter
- PAF1 p.Ile87Val Uncertain significance Single submitter
- PAF1 p.Ile94Leu Uncertain significance Single submitter
- PAF1 p.Lys272Asn Uncertain significance Single submitter
- PAF1 p.Ser304Thr Uncertain significance Single submitter
- PAF1 p.Ser414Leu Uncertain significance Single submitter
-
PAF1 p.Ser482Leu
Uncertain significance
Single submitter
peroxisome biogenesis disorder 1A (Zellweger)
- PAF1 p.Ser530Arg Uncertain significance Single submitter
All PAF1 variants
Benign 7
- c.568-8T>C Multiple submitters
- c.858-37G>A Multiple submitters
- c.986+22G>C Multiple submitters
- c.987-166A>G Multiple submitters
- c.987-297A>G Multiple submitters
- p.His124= Multiple submitters
- c.48-87_48-86insCTT Single submitter
Uncertain significance 42
- p.Ala282Val Single submitter ⚠
- p.Ala464Val Single submitter ⚠
- p.Ala500Gly Single submitter ⚠
- p.Arg336Trp Single submitter ⚠
- p.Arg471Lys Single submitter ⚠
- p.Arg93Leu Single submitter ⚠
- p.Asn487Ser Single submitter ⚠
- p.Asn97Ser Single submitter ⚠
- p.Asp468His Single submitter ⚠
- p.Asp514Asn Single submitter ⚠
- p.Gln113Arg Single submitter ⚠
- p.Gln473His Single submitter ⚠
- p.Gln475Glu Single submitter ⚠
- p.Glu111Asp Single submitter ⚠
- p.Glu390Ala Single submitter ⚠
- p.Glu390Asp Single submitter ⚠
- p.Glu390Lys Single submitter ⚠
- p.Glu419Gln Single submitter ⚠
- p.Glu438Asp Single submitter ⚠
- p.Gly14Ser Single submitter ⚠
- p.Gly318Asp Single submitter ⚠
- p.Gly423Asp Single submitter ⚠
- p.Gly472Arg Single submitter ⚠
- p.Gly489Ser Single submitter ⚠
- p.Ile146Leu Single submitter ⚠
- p.Ile5Val Single submitter ⚠
- p.Ile87Val Single submitter ⚠
- p.Ile94Leu Single submitter ⚠
- p.Lys119Arg Single submitter ⚠
- p.Lys272Asn Single submitter ⚠
- p.Lys290Arg Single submitter ⚠
- p.Lys305Glu Single submitter ⚠
- p.Ser304Thr Single submitter ⚠
- p.Ser414Leu Single submitter ⚠
- p.Ser439Asn Single submitter ⚠
- p.Ser478Gly Single submitter ⚠
- p.Ser482Leu Single submitter peroxisome biogenesis disorder 1A (Zellweger) ⚠
- p.Ser493Gly Single submitter ⚠
- p.Ser524Asn Single submitter ⚠
- p.Ser530Arg Single submitter ⚠
- p.Thr232Met Single submitter ⚠
- p.Gln10Ter No assertion criteria