UBAP1L — 105 ClinVar variants
All ClinVar germline UBAP1L variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 92 flagged for review →
6 Pathogenic · 1 Pathogenic/Likely pathogenic · 1 Likely pathogenic · 1 Benign · 4 Likely benign · 92 Uncertain significance
Full UBAP1L gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 92
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
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UBAP1L p.Thr93Lys
Pathogenic
No assertion criteria
RETINAL DYSTROPHY, ZEITZ-HAN TYPE
Predictors lean, ClinVar uncertain 85
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- UBAP1L p.Ala115Val Uncertain significance Single submitter
- UBAP1L p.Ala156Ser Uncertain significance Single submitter
- UBAP1L p.Ala173Asp Uncertain significance Single submitter
- UBAP1L p.Ala183Glu Uncertain significance Single submitter
- UBAP1L p.Ala191Val Uncertain significance Single submitter
- UBAP1L p.Ala203Ser Uncertain significance Single submitter
- UBAP1L p.Ala203Thr Uncertain significance Single submitter
- UBAP1L p.Ala221Ser Uncertain significance Single submitter
- UBAP1L p.Ala221Val Uncertain significance Single submitter
- UBAP1L p.Ala233Val Uncertain significance Single submitter
- UBAP1L p.Ala372Asp Uncertain significance Single submitter
- UBAP1L p.Ala380Thr Uncertain significance Single submitter
- UBAP1L p.Ala380Val Uncertain significance Single submitter
- UBAP1L p.Ala56Ser Uncertain significance Single submitter
- UBAP1L p.Ala99Thr Uncertain significance Single submitter
- UBAP1L p.Arg140Leu Uncertain significance Single submitter
- UBAP1L p.Arg160Gln Uncertain significance Single submitter
- UBAP1L p.Arg161Trp Uncertain significance Single submitter
- UBAP1L p.Arg195Ser Uncertain significance Single submitter
- UBAP1L p.Arg287Gln Uncertain significance Single submitter
- UBAP1L p.Arg313His Uncertain significance Single submitter
- UBAP1L p.Arg316His Uncertain significance Single submitter
- UBAP1L p.Arg343Cys Uncertain significance Single submitter
- UBAP1L p.Arg343His Uncertain significance Single submitter
- UBAP1L p.Arg357Trp Uncertain significance Single submitter
- UBAP1L p.Gln355Glu Uncertain significance Single submitter
- UBAP1L p.Gln355Lys Uncertain significance Single submitter
- UBAP1L p.Glu84Lys Uncertain significance Single submitter
- UBAP1L p.Gly14Val Uncertain significance Single submitter
- UBAP1L p.Gly157Arg Uncertain significance Single submitter
- UBAP1L p.Gly322Val Uncertain significance Single submitter
- UBAP1L p.Gly6Val Uncertain significance Single submitter
- UBAP1L p.His181Arg Uncertain significance Single submitter
- UBAP1L p.His41Pro Uncertain significance Single submitter
- UBAP1L p.Ile17Met Uncertain significance Single submitter
- UBAP1L p.Ile290Met Uncertain significance Single submitter
- UBAP1L p.Leu145Pro Uncertain significance Single submitter
- UBAP1L p.Leu148Gln Uncertain significance Single submitter
- UBAP1L p.Leu153Phe Uncertain significance Single submitter
- UBAP1L p.Leu174Phe Uncertain significance Single submitter
- UBAP1L p.Leu225Pro Uncertain significance Single submitter
- UBAP1L p.Leu22Pro Uncertain significance Single submitter
- UBAP1L p.Leu235Ile Uncertain significance Single submitter
- UBAP1L p.Leu235Phe Uncertain significance Single submitter
- UBAP1L p.Leu244Phe Uncertain significance Single submitter
- UBAP1L p.Leu275Val Uncertain significance Single submitter
- UBAP1L p.Leu27Phe Uncertain significance Single submitter
- UBAP1L p.Pro105Leu Uncertain significance Single submitter
- UBAP1L p.Pro130Ala Uncertain significance Single submitter
- UBAP1L p.Pro171Ala Uncertain significance Single submitter
- UBAP1L p.Pro171Arg Uncertain significance Single submitter
- UBAP1L p.Pro171Leu Uncertain significance Single submitter
- UBAP1L p.Pro171Ser Uncertain significance Single submitter
- UBAP1L p.Pro194Ser Uncertain significance Single submitter
- UBAP1L p.Pro200Leu Uncertain significance Single submitter
- UBAP1L p.Pro210Leu Uncertain significance Single submitter
- UBAP1L p.Pro213His Uncertain significance Single submitter
- UBAP1L p.Pro213Leu Uncertain significance Single submitter
- UBAP1L p.Pro21Leu Uncertain significance Single submitter
- UBAP1L p.Pro224Leu Uncertain significance Single submitter
- UBAP1L p.Pro230Ala Uncertain significance Single submitter
- UBAP1L p.Pro230Ser Uncertain significance Single submitter
- UBAP1L p.Pro237Leu Uncertain significance Single submitter
- UBAP1L p.Pro253His Uncertain significance Single submitter
- UBAP1L p.Pro258Ser Uncertain significance Single submitter
- UBAP1L p.Pro30Leu Uncertain significance Single submitter
- UBAP1L p.Pro68Leu Uncertain significance Single submitter
- UBAP1L p.Ser119Arg Uncertain significance Single submitter
- UBAP1L p.Ser135Gly Uncertain significance Single submitter
- UBAP1L p.Ser169Phe Uncertain significance Single submitter
- UBAP1L p.Ser185Arg Uncertain significance Single submitter
- UBAP1L p.Ser212Ala Uncertain significance Single submitter
- UBAP1L p.Ser217Pro Uncertain significance Single submitter
- UBAP1L p.Ser227Asn Uncertain significance Single submitter
- UBAP1L p.Ser306Gly Uncertain significance Single submitter
- UBAP1L p.Ser336Asn Uncertain significance Single submitter
- UBAP1L p.Ser336Thr Uncertain significance Single submitter
- UBAP1L p.Ser82Ile Uncertain significance Single submitter
- UBAP1L p.Thr218Ala Uncertain significance Single submitter
- UBAP1L p.Thr218Met Uncertain significance Single submitter
- UBAP1L p.Val147Leu Uncertain significance Single submitter
- UBAP1L p.Val168Ile Uncertain significance Single submitter
- UBAP1L p.Val168Phe Uncertain significance Single submitter
- UBAP1L p.Val364Gly Uncertain significance Single submitter
- UBAP1L p.Val53Leu Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- UBAP1L p.Arg369Gln Uncertain significance Single submitter
- UBAP1L p.Glu272Asp Uncertain significance Single submitter
- UBAP1L p.Leu301Gln Uncertain significance Single submitter
- UBAP1L p.Leu308Val Uncertain significance Single submitter
- UBAP1L p.Leu344Phe Uncertain significance Single submitter
- UBAP1L p.Ser236Arg Uncertain significance Single submitter
All UBAP1L variants
Pathogenic 6
- c.121-2A>C Single submitter inherited retinal dystrophy
- p.Arg287Ter Single submitter UBAP1L-related disorder
- p.Pro237fs Single submitter inherited retinal dystrophy
- p.Ser212fs Single submitter inherited retinal dystrophy
- p.Met351Val No assertion criteria RETINAL DYSTROPHY, ZEITZ-HAN TYPE
- p.Thr93Lys No assertion criteria RETINAL DYSTROPHY, ZEITZ-HAN TYPE ⚠
Pathogenic/Likely pathogenic 1
- c.910-7G>A Multiple submitters inherited retinal dystrophy
Likely pathogenic 1
- c.120+1G>T Single submitter isolated macular dystrophy
Benign 1
- p.Pro230= Single submitter
Likely benign 4
- p.Ala88Val Single submitter
- p.Pro136= Single submitter
- p.Pro224Gln Single submitter
- p.Thr93Ala Single submitter
Uncertain significance 92
- p.Ala115Val Single submitter ⚠
- p.Ala156Ser Single submitter ⚠
- p.Ala173Asp Single submitter ⚠
- p.Ala183Glu Single submitter ⚠
- p.Ala191Val Single submitter ⚠
- p.Ala203Ser Single submitter ⚠
- p.Ala203Thr Single submitter ⚠
- p.Ala221Ser Single submitter ⚠
- p.Ala221Val Single submitter ⚠
- p.Ala233Val Single submitter ⚠
- p.Ala372Asp Single submitter ⚠
- p.Ala380Thr Single submitter ⚠
- p.Ala380Val Single submitter ⚠
- p.Ala56Ser Single submitter ⚠
- p.Ala99Thr Single submitter ⚠
- p.Arg140Leu Single submitter ⚠
- p.Arg160Gln Single submitter ⚠
- p.Arg161Trp Single submitter ⚠
- p.Arg195Ser Single submitter ⚠
- p.Arg287Gln Single submitter ⚠
- p.Arg313His Single submitter ⚠
- p.Arg316His Single submitter ⚠
- p.Arg343Cys Single submitter ⚠
- p.Arg343His Single submitter ⚠
- p.Arg357Trp Single submitter ⚠
- p.Arg369Gln Single submitter ⚠
- p.Gln355Glu Single submitter ⚠
- p.Gln355Lys Single submitter ⚠
- p.Glu272Asp Single submitter ⚠
- p.Glu84Lys Single submitter ⚠
- p.Gly14Val Single submitter ⚠
- p.Gly157Arg Single submitter ⚠
- p.Gly322Val Single submitter ⚠
- p.Gly6Val Single submitter ⚠
- p.His181Arg Single submitter ⚠
- p.His41Pro Single submitter ⚠
- p.Ile17Met Single submitter ⚠
- p.Ile290Met Single submitter ⚠
- p.Leu145Pro Single submitter ⚠
- p.Leu148Gln Single submitter ⚠
- p.Leu153Phe Single submitter ⚠
- p.Leu174Phe Single submitter ⚠
- p.Leu225Pro Single submitter ⚠
- p.Leu22Pro Single submitter ⚠
- p.Leu235Ile Single submitter ⚠
- p.Leu235Phe Single submitter ⚠
- p.Leu244Phe Single submitter ⚠
- p.Leu275Val Single submitter ⚠
- p.Leu27Phe Single submitter ⚠
- p.Leu301Gln Single submitter ⚠
- p.Leu308Val Single submitter ⚠
- p.Leu344Phe Single submitter ⚠
- p.Leu4Pro Single submitter
- p.Pro105Leu Single submitter ⚠
- p.Pro130Ala Single submitter ⚠
- p.Pro171Ala Single submitter ⚠
- p.Pro171Arg Single submitter ⚠
- p.Pro171Leu Single submitter ⚠
- p.Pro171Ser Single submitter ⚠
- p.Pro194Ser Single submitter ⚠
- p.Pro200Leu Single submitter ⚠
- p.Pro210Leu Single submitter ⚠
- p.Pro213His Single submitter ⚠
- p.Pro213Leu Single submitter ⚠
- p.Pro21Leu Single submitter ⚠
- p.Pro224Leu Single submitter ⚠
- p.Pro230Ala Single submitter ⚠
- p.Pro230Ser Single submitter ⚠
- p.Pro237Leu Single submitter ⚠
- p.Pro253His Single submitter ⚠
- p.Pro258Ser Single submitter ⚠
- p.Pro30Leu Single submitter ⚠
- p.Pro68Leu Single submitter ⚠
- p.Ser119Arg Single submitter ⚠
- p.Ser135Gly Single submitter ⚠
- p.Ser169Phe Single submitter ⚠
- p.Ser185Arg Single submitter ⚠
- p.Ser212Ala Single submitter ⚠
- p.Ser217Pro Single submitter ⚠
- p.Ser227Asn Single submitter ⚠
- p.Ser236Arg Single submitter ⚠
- p.Ser306Gly Single submitter ⚠
- p.Ser336Asn Single submitter ⚠
- p.Ser336Thr Single submitter ⚠
- p.Ser82Ile Single submitter ⚠
- p.Thr218Ala Single submitter ⚠
- p.Thr218Met Single submitter ⚠
- p.Val147Leu Single submitter ⚠
- p.Val168Ile Single submitter ⚠
- p.Val168Phe Single submitter ⚠
- p.Val364Gly Single submitter ⚠
- p.Val53Leu Single submitter ⚠