UBAP2L — 163 ClinVar variants
All ClinVar germline UBAP2L variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 120 flagged for review →
7 Pathogenic · 2 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 2 Conflicting · 4 Benign · 12 Likely benign · 131 Uncertain significance
Full UBAP2L gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 120
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.
Predicted LoF vs a conflicting call 1
ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.
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UBAP2L p.Tyr908Ter
Conflicting
No assertion criteria
neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies
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.
- UBAP2L p.Arg421His Uncertain significance Multiple submitters
-
UBAP2L p.Pro1072Ser
Uncertain significance
Multiple submitters
neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies
-
UBAP2L p.Pro957Leu
Uncertain significance
Multiple submitters
neurodevelopmental disorder
- UBAP2L p.Val528Ile Uncertain significance Multiple submitters
- UBAP2L p.Ala10Gly Uncertain significance Single submitter
- UBAP2L p.Ala352Val Uncertain significance Single submitter
- UBAP2L p.Ala413Val Uncertain significance Single submitter
- UBAP2L p.Ala509Val Uncertain significance Single submitter
- UBAP2L p.Ala540Thr Uncertain significance Single submitter
- UBAP2L p.Ala642Val Uncertain significance Single submitter
- UBAP2L p.Ala663Val Uncertain significance Single submitter
-
UBAP2L p.Ala781Val
Uncertain significance
Single submitter
neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies
-
UBAP2L p.Ala934Val
Uncertain significance
Single submitter
neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies
- UBAP2L p.Arg11Trp Uncertain significance Single submitter
- UBAP2L p.Arg124Gln Uncertain significance Single submitter
- UBAP2L p.Arg139Lys Uncertain significance Single submitter
- UBAP2L p.Arg172Gly Uncertain significance Single submitter
- UBAP2L p.Asn117Ser Uncertain significance Single submitter
- UBAP2L p.Asn209Asp Uncertain significance Single submitter
- UBAP2L p.Asn263Ile Uncertain significance Single submitter
- UBAP2L p.Asn297Asp Uncertain significance Single submitter
- UBAP2L p.Asp212Gly Uncertain significance Single submitter
- UBAP2L p.Asp47Val Uncertain significance Single submitter
- UBAP2L p.Asp531Gly Uncertain significance Single submitter
- UBAP2L p.Gln306His Uncertain significance Single submitter
- UBAP2L p.Gln312Lys Uncertain significance Single submitter
- UBAP2L p.Gln436Glu Uncertain significance Single submitter
- UBAP2L p.Gln465His Uncertain significance Single submitter
- UBAP2L p.Gln567Glu Uncertain significance Single submitter
- UBAP2L p.Glu229Asp Uncertain significance Single submitter
- UBAP2L p.Glu351Lys Uncertain significance Single submitter
- UBAP2L p.Gly143Asp Uncertain significance Single submitter
- UBAP2L p.Gly143Cys Uncertain significance Single submitter
- UBAP2L p.Gly180Ser Uncertain significance Single submitter
- UBAP2L p.Gly219Ser Uncertain significance Single submitter
- UBAP2L p.Gly589Asp Uncertain significance Single submitter
- UBAP2L p.Gly589Ser Uncertain significance Single submitter
- UBAP2L p.Gly678Arg Uncertain significance Single submitter
- UBAP2L p.His336Arg Uncertain significance Single submitter
- UBAP2L p.Ile276Val Uncertain significance Single submitter
- UBAP2L p.Leu456Met Uncertain significance Single submitter
- UBAP2L p.Leu456Pro Uncertain significance Single submitter
- UBAP2L p.Leu529Phe Uncertain significance Single submitter
- UBAP2L p.Leu591Val Uncertain significance Single submitter
- UBAP2L p.Lys63Arg Uncertain significance Single submitter
- UBAP2L p.Lys786Arg Uncertain significance Single submitter
- UBAP2L p.Met295Arg Uncertain significance Single submitter
- UBAP2L p.Met295Val Uncertain significance Single submitter
- UBAP2L p.Phe228Leu Uncertain significance Single submitter
- UBAP2L p.Pro1069Leu Uncertain significance Single submitter
- UBAP2L p.Pro417His Uncertain significance Single submitter
- UBAP2L p.Pro451Ser Uncertain significance Single submitter
- UBAP2L p.Pro575Arg Uncertain significance Single submitter
- UBAP2L p.Pro590Ser Uncertain significance Single submitter
- UBAP2L p.Pro686Ala Uncertain significance Single submitter
- UBAP2L p.Pro747Ser Uncertain significance Single submitter
- UBAP2L p.Ser131Gly Uncertain significance Single submitter
- UBAP2L p.Ser235Arg Uncertain significance Single submitter
- UBAP2L p.Ser467Leu Uncertain significance Single submitter
- UBAP2L p.Ser470Phe Uncertain significance Single submitter
- UBAP2L p.Ser562Pro Uncertain significance Single submitter
- UBAP2L p.Ser578Leu Uncertain significance Single submitter
- UBAP2L p.Ser675Phe Uncertain significance Single submitter
- UBAP2L p.Ser682Asn Uncertain significance Single submitter
- UBAP2L p.Ser706Leu Uncertain significance Single submitter
- UBAP2L p.Ser755Ile Uncertain significance Single submitter
- UBAP2L p.Ser779Pro Uncertain significance Single submitter
- UBAP2L p.Ser907Gly Uncertain significance Single submitter
- UBAP2L p.Ser958Thr Uncertain significance Single submitter
- UBAP2L p.Ser970Ala Uncertain significance Single submitter
- UBAP2L p.Thr275Ala Uncertain significance Single submitter
- UBAP2L p.Thr444Ala Uncertain significance Single submitter
- UBAP2L p.Thr582Ala Uncertain significance Single submitter
- UBAP2L p.Thr631Ile Uncertain significance Single submitter
- UBAP2L p.Thr667Met Uncertain significance Single submitter
- UBAP2L p.Thr738Ser Uncertain significance Single submitter
- UBAP2L p.Thr771Ala Uncertain significance Single submitter
- UBAP2L p.Thr782Met Uncertain significance Single submitter
- UBAP2L p.Thr936Ala Uncertain significance Single submitter
- UBAP2L p.Tyr820Phe Uncertain significance Single submitter
- UBAP2L p.Val433Met Uncertain significance Single submitter
- UBAP2L p.Val624Gly Uncertain significance Single submitter
- UBAP2L p.Val772Leu Uncertain significance Single submitter
- UBAP2L p.Val933Met Uncertain significance Single submitter
-
UBAP2L p.Ser145Asn
Uncertain significance
No assertion criteria
UBAP2L-related condition
Predictors split 33
The independent predictors disagree with each other — read with care.
- UBAP2L p.Ala806Thr Uncertain significance Single submitter
- UBAP2L p.Arg126Trp Uncertain significance Single submitter
- UBAP2L p.Arg132Trp Uncertain significance Single submitter
- UBAP2L p.Arg140Gln Uncertain significance Single submitter
- UBAP2L p.Arg140Trp Uncertain significance Single submitter
- UBAP2L p.Arg28Trp Uncertain significance Single submitter
- UBAP2L p.Arg421Leu Uncertain significance Single submitter
- UBAP2L p.Arg829Gly Uncertain significance Single submitter
- UBAP2L p.Asn318Lys Uncertain significance Single submitter
- UBAP2L p.Asp1054Tyr Uncertain significance Single submitter
- UBAP2L p.Gln30Lys Uncertain significance Single submitter
- UBAP2L p.Gln894His Uncertain significance Single submitter
- UBAP2L p.Glu526Gly Uncertain significance Single submitter
- UBAP2L p.Glu97Gln Uncertain significance Single submitter
- UBAP2L p.Gly135Arg Uncertain significance Single submitter
- UBAP2L p.Gly135Cys Uncertain significance Single submitter
- UBAP2L p.Gly977Arg Uncertain significance Single submitter
- UBAP2L p.His811Arg Uncertain significance Single submitter
- UBAP2L p.Ile60Thr Uncertain significance Single submitter
- UBAP2L p.Ile837Thr Uncertain significance Single submitter
- UBAP2L p.Met505Ile Uncertain significance Single submitter
- UBAP2L p.Met825Ile Uncertain significance Single submitter
-
UBAP2L p.Phe865Leu
Uncertain significance
Single submitter
neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies
- UBAP2L p.Phe897Leu Uncertain significance Single submitter
- UBAP2L p.Pro900Leu Uncertain significance Single submitter
-
UBAP2L p.Pro921Ala
Uncertain significance
Single submitter
neurodevelopmental disorder
- UBAP2L p.Ser548Arg Uncertain significance Single submitter
- UBAP2L p.Ser596Cys Uncertain significance Single submitter
- UBAP2L p.Ser605Cys Uncertain significance Single submitter
- UBAP2L p.Ser664Cys Uncertain significance Single submitter
- UBAP2L p.Ser722Cys Uncertain significance Single submitter
- UBAP2L p.Thr936Ile Uncertain significance Single submitter
- UBAP2L p.Tyr204Asn Uncertain significance Single submitter
All UBAP2L variants
Pathogenic 7
- c.3168+3A>G Single submitter neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies
- p.Ala854fs Single submitter
- p.Gln616Ter Single submitter
- p.Leu656fs Single submitter Neurodevelopmental abnormality
- c.590+1G>A No assertion criteria neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies
- p.Gln30Ter No assertion criteria neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies
- p.Gly188Ter No assertion criteria neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies
Pathogenic/Likely pathogenic 2
- p.Arg187Ter Multiple submitters neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies
- p.Thr976fs Multiple submitters neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies
Likely pathogenic 5
- p.Ala663fs Single submitter neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies
- p.Gln990Ter Single submitter neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies
- p.Leu798Ter Single submitter neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies
- p.Phe518fs Single submitter neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies
- p.Pro814= Single submitter
Conflicting classifications of pathogenicity 2
- p.Ala413Ser Single submitter ⚠
- p.Tyr908Ter No assertion criteria neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies ⚠
Benign 4
- p.Ser950= Multiple submitters
- c.1491+10C>A Single submitter
- p.Ser596= Single submitter
- p.Val414Ala Single submitter
Likely benign 12
- p.Ala413Thr Single submitter
- p.Ala901= Single submitter
- p.Gln567Lys Single submitter
- p.Gln633= Single submitter
- p.Gly767Ser Single submitter
- p.Ile981= Single submitter
- p.Pro480= Single submitter
- p.Ser106Ala Single submitter
- p.Ser217Asn Single submitter
- p.Thr688= Single submitter
- p.Thr696Met Single submitter
- p.Val5= Single submitter
Uncertain significance 131
- p.Arg421His Multiple submitters ⚠
- p.Pro1072Ser Multiple submitters neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies ⚠
- p.Pro957Leu Multiple submitters neurodevelopmental disorder ⚠
- p.Val528Ile Multiple submitters ⚠
- c.1491+21A>G Single submitter neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies
- c.2902+6C>T Single submitter neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies
- c.2903-9C>T Single submitter
- c.2971-2A>G Single submitter
- c.448+1G>A Single submitter
- c.448+3A>G Single submitter
- c.544+19G>T Single submitter
- c.-40-2A>G Single submitter
- p.Ala10Gly Single submitter ⚠
- p.Ala352Val Single submitter ⚠
- p.Ala413Val Single submitter ⚠
- p.Ala509Val Single submitter ⚠
- p.Ala540Thr Single submitter ⚠
- p.Ala642Val Single submitter ⚠
- p.Ala663Val Single submitter ⚠
- p.Ala781Val Single submitter neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies ⚠
- p.Ala806Thr Single submitter ⚠
- p.Ala934Val Single submitter neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies ⚠
- p.Arg11Trp Single submitter ⚠
- p.Arg124Gln Single submitter ⚠
- p.Arg126Trp Single submitter ⚠
- p.Arg132Trp Single submitter ⚠
- p.Arg139Lys Single submitter ⚠
- p.Arg140Gln Single submitter ⚠
- p.Arg140Trp Single submitter ⚠
- p.Arg172Gly Single submitter ⚠
- p.Arg28Trp Single submitter ⚠
- p.Arg421Leu Single submitter ⚠
- p.Arg829Gly Single submitter ⚠
- p.Asn117Ser Single submitter ⚠
- p.Asn209Asp Single submitter ⚠
- p.Asn263Ile Single submitter ⚠
- p.Asn297Asp Single submitter ⚠
- p.Asn318Lys Single submitter ⚠
- p.Asp1054Tyr Single submitter ⚠
- p.Asp212Gly Single submitter ⚠
- p.Asp47Val Single submitter ⚠
- p.Asp531Gly Single submitter ⚠
- p.Gln306His Single submitter ⚠
- p.Gln30Lys Single submitter ⚠
- p.Gln312Lys Single submitter ⚠
- p.Gln436Glu Single submitter ⚠
- p.Gln465His Single submitter ⚠
- p.Gln567Glu Single submitter ⚠
- p.Gln816= Single submitter
- p.Gln894His Single submitter ⚠
- p.Glu229Asp Single submitter ⚠
- p.Glu351Lys Single submitter ⚠
- p.Glu526Gly Single submitter ⚠
- p.Glu97Gln Single submitter ⚠
- p.Gly135Arg Single submitter ⚠
- p.Gly135Cys Single submitter ⚠
- p.Gly143Asp Single submitter ⚠
- p.Gly143Cys Single submitter ⚠
- p.Gly180Ser Single submitter ⚠
- p.Gly219Ser Single submitter ⚠
- p.Gly589Asp Single submitter ⚠
- p.Gly589Ser Single submitter ⚠
- p.Gly678Arg Single submitter ⚠
- p.Gly977Arg Single submitter ⚠
- p.His1043Leu Single submitter
- p.His336Arg Single submitter ⚠
- p.His811Arg Single submitter ⚠
- p.Ile276Val Single submitter ⚠
- p.Ile60Thr Single submitter ⚠
- p.Ile837Thr Single submitter ⚠
- p.Leu456Met Single submitter ⚠
- p.Leu456Pro Single submitter ⚠
- p.Leu529Phe Single submitter ⚠
- p.Leu591Val Single submitter ⚠
- p.Lys63Arg Single submitter ⚠
- p.Lys786Arg Single submitter ⚠
- p.Met1Leu Single submitter neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies
- p.Met295Arg Single submitter ⚠
- p.Met295Val Single submitter ⚠
- p.Met505Ile Single submitter ⚠
- p.Met825Ile Single submitter ⚠
- p.Phe228Leu Single submitter ⚠
- p.Phe865Leu Single submitter neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies ⚠
- p.Phe897Leu Single submitter ⚠
- p.Pro1069Leu Single submitter ⚠
- p.Pro417His Single submitter ⚠
- p.Pro451Ser Single submitter ⚠
- p.Pro575Arg Single submitter ⚠
- p.Pro590Ser Single submitter ⚠
- p.Pro686Ala Single submitter ⚠
- p.Pro747Ser Single submitter ⚠
- p.Pro900Leu Single submitter ⚠
- p.Pro921Ala Single submitter neurodevelopmental disorder ⚠
- p.Ser131Gly Single submitter ⚠
- p.Ser235Arg Single submitter ⚠
- p.Ser467Leu Single submitter ⚠
- p.Ser470Phe Single submitter ⚠
- p.Ser530del Single submitter
- p.Ser548Arg Single submitter ⚠
- p.Ser562Pro Single submitter ⚠
- p.Ser578Leu Single submitter ⚠
- p.Ser596Cys Single submitter ⚠
- p.Ser605Cys Single submitter ⚠
- p.Ser664Cys Single submitter ⚠
- p.Ser675Phe Single submitter ⚠
- p.Ser682Asn Single submitter ⚠
- p.Ser706Leu Single submitter ⚠
- p.Ser722Cys Single submitter ⚠
- p.Ser755Ile Single submitter ⚠
- p.Ser779Pro Single submitter ⚠
- p.Ser907Gly Single submitter ⚠
- p.Ser958Thr Single submitter ⚠
- p.Ser970Ala Single submitter ⚠
- p.Thr275Ala Single submitter ⚠
- p.Thr444Ala Single submitter ⚠
- p.Thr582Ala Single submitter ⚠
- p.Thr631Ile Single submitter ⚠
- p.Thr667Met Single submitter ⚠
- p.Thr738Ser Single submitter ⚠
- p.Thr771Ala Single submitter ⚠
- p.Thr782Met Single submitter ⚠
- p.Thr936Ala Single submitter ⚠
- p.Thr936Ile Single submitter ⚠
- p.Tyr1027Ser Single submitter
- p.Tyr204Asn Single submitter ⚠
- p.Tyr820Phe Single submitter ⚠
- p.Val433Met Single submitter ⚠
- p.Val624Gly Single submitter ⚠
- p.Val772Leu Single submitter ⚠
- p.Val933Met Single submitter ⚠
- p.Ser145Asn No assertion criteria UBAP2L-related condition ⚠