WAPL — 126 ClinVar variants
All ClinVar germline WAPL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 115 flagged for review →
3 Likely benign · 123 Uncertain significance
Full WAPL gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 115
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 98
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- WAPL p.Ala278Thr Uncertain significance Single submitter
- WAPL p.Ala337Thr Uncertain significance Single submitter
- WAPL p.Arg247Thr Uncertain significance Single submitter
- WAPL p.Arg379His Uncertain significance Single submitter
-
WAPL p.Arg674Cys
Uncertain significance
Single submitter
Abnormality of the outer ear
- WAPL p.Arg731Gly Uncertain significance Single submitter
-
WAPL p.Arg731His
Uncertain significance
Single submitter
WAPL-related disorder
- WAPL p.Arg900His Uncertain significance Single submitter
- WAPL p.Asn1004Ser Uncertain significance Single submitter
- WAPL p.Asn179Ser Uncertain significance Single submitter
- WAPL p.Asn276His Uncertain significance Single submitter
- WAPL p.Asn447Thr Uncertain significance Single submitter
- WAPL p.Asn495Ser Uncertain significance Single submitter
- WAPL p.Asn507Asp Uncertain significance Single submitter
- WAPL p.Asp1021Asn Uncertain significance Single submitter
- WAPL p.Asp1060Glu Uncertain significance Single submitter
- WAPL p.Asp131Val Uncertain significance Single submitter
- WAPL p.Asp188Gly Uncertain significance Single submitter
- WAPL p.Asp240Gly Uncertain significance Single submitter
- WAPL p.Asp266Gly Uncertain significance Single submitter
- WAPL p.Asp332Gly Uncertain significance Single submitter
- WAPL p.Asp516His Uncertain significance Single submitter
- WAPL p.Asp593Glu Uncertain significance Single submitter
- WAPL p.Asp708Gly Uncertain significance Single submitter
-
WAPL p.Asp735Gly
Uncertain significance
Single submitter
neurodevelopmental disorder
- WAPL p.Asp833Asn Uncertain significance Single submitter
- WAPL p.Asp903Gly Uncertain significance Single submitter
- WAPL p.Cys1001Phe Uncertain significance Single submitter
- WAPL p.Cys964Ser Uncertain significance Single submitter
- WAPL p.Gln214Arg Uncertain significance Single submitter
- WAPL p.Gln531Pro Uncertain significance Single submitter
- WAPL p.Gln590Lys Uncertain significance Single submitter
- WAPL p.Gln897Arg Uncertain significance Single submitter
- WAPL p.Glu1006Lys Uncertain significance Single submitter
- WAPL p.Glu107Lys Uncertain significance Single submitter
- WAPL p.Glu1157Asp Uncertain significance Single submitter
- WAPL p.Glu137Lys Uncertain significance Single submitter
- WAPL p.Glu170Gln Uncertain significance Single submitter
- WAPL p.Glu177Val Uncertain significance Single submitter
- WAPL p.Glu328Lys Uncertain significance Single submitter
- WAPL p.Gly1027Asp Uncertain significance Single submitter
- WAPL p.Gly216Glu Uncertain significance Single submitter
- WAPL p.Gly317Ser Uncertain significance Single submitter
- WAPL p.Gly340Ala Uncertain significance Single submitter
- WAPL p.His434Asn Uncertain significance Single submitter
- WAPL p.Ile1015Thr Uncertain significance Single submitter
- WAPL p.Ile1015Val Uncertain significance Single submitter
- WAPL p.Ile1154Val Uncertain significance Single submitter
- WAPL p.Ile204Val Uncertain significance Single submitter
- WAPL p.Ile225Val Uncertain significance Single submitter
- WAPL p.Ile246Thr Uncertain significance Single submitter
- WAPL p.Ile283Thr Uncertain significance Single submitter
- WAPL p.Ile528Val Uncertain significance Single submitter
- WAPL p.Ile55Ser Uncertain significance Single submitter
- WAPL p.Ile55Thr Uncertain significance Single submitter
- WAPL p.Ile55Val Uncertain significance Single submitter
- WAPL p.Ile611Leu Uncertain significance Single submitter
- WAPL p.Ile611Val Uncertain significance Single submitter
- WAPL p.Ile881Thr Uncertain significance Single submitter
- WAPL p.Leu260Phe Uncertain significance Single submitter
- WAPL p.Leu913Pro Uncertain significance Single submitter
- WAPL p.Lys168Asn Uncertain significance Single submitter
- WAPL p.Lys185Arg Uncertain significance Single submitter
- WAPL p.Lys192Asn Uncertain significance Single submitter
- WAPL p.Lys474Gln Uncertain significance Single submitter
- WAPL p.Lys843Asn Uncertain significance Single submitter
- WAPL p.Lys87Asn Uncertain significance Single submitter
- WAPL p.Met1005Val Uncertain significance Single submitter
- WAPL p.Met263Thr Uncertain significance Single submitter
- WAPL p.Met377Val Uncertain significance Single submitter
- WAPL p.Pro415Leu Uncertain significance Single submitter
- WAPL p.Pro486Leu Uncertain significance Single submitter
- WAPL p.Pro491Thr Uncertain significance Single submitter
- WAPL p.Pro53Arg Uncertain significance Single submitter
- WAPL p.Pro866Thr Uncertain significance Single submitter
- WAPL p.Ser1008Trp Uncertain significance Single submitter
- WAPL p.Ser1069Gly Uncertain significance Single submitter
- WAPL p.Ser213Phe Uncertain significance Single submitter
- WAPL p.Ser319Asn Uncertain significance Single submitter
- WAPL p.Ser319Ile Uncertain significance Single submitter
- WAPL p.Ser329Leu Uncertain significance Single submitter
- WAPL p.Ser485Leu Uncertain significance Single submitter
- WAPL p.Ser501Arg Uncertain significance Single submitter
- WAPL p.Ser756Leu Uncertain significance Single submitter
- WAPL p.Thr210Ser Uncertain significance Single submitter
- WAPL p.Thr376Ala Uncertain significance Single submitter
- WAPL p.Thr410Ala Uncertain significance Single submitter
- WAPL p.Thr480Ala Uncertain significance Single submitter
- WAPL p.Thr480Asn Uncertain significance Single submitter
- WAPL p.Thr539Ile Uncertain significance Single submitter
- WAPL p.Thr634Ile Uncertain significance Single submitter
- WAPL p.Val129Leu Uncertain significance Single submitter
- WAPL p.Val23Ile Uncertain significance Single submitter
- WAPL p.Val284Ile Uncertain significance Single submitter
- WAPL p.Val424Ile Uncertain significance Single submitter
- WAPL p.Val424Phe Uncertain significance Single submitter
- WAPL p.Val520Leu Uncertain significance Single submitter
- WAPL p.Val92Ile Uncertain significance Single submitter
Predictors split 17
The independent predictors disagree with each other — read with care.
- WAPL p.Ala1032Thr Uncertain significance Single submitter
- WAPL p.Arg1045Trp Uncertain significance Single submitter
- WAPL p.Asn1139Thr Uncertain significance Single submitter
- WAPL p.Asn643Lys Uncertain significance Single submitter
- WAPL p.Asp1012Glu Uncertain significance Single submitter
- WAPL p.Asp403Val Uncertain significance Single submitter
- WAPL p.Gln976His Uncertain significance Single submitter
- WAPL p.Leu1103His Uncertain significance Single submitter
- WAPL p.Lys924Thr Uncertain significance Single submitter
- WAPL p.Phe384Leu Uncertain significance Single submitter
- WAPL p.Ser77Gly Uncertain significance Single submitter
- WAPL p.Ser81Tyr Uncertain significance Single submitter
- WAPL p.Thr33Ala Uncertain significance Single submitter
- WAPL p.Thr949Ile Uncertain significance Single submitter
- WAPL p.Val1121Ala Uncertain significance Single submitter
- WAPL p.Val605Met Uncertain significance Single submitter
- WAPL p.Val922Leu Uncertain significance Single submitter
All WAPL variants
Likely benign 3
- p.Asn195Ser Single submitter
- p.Phe268Leu Single submitter
- p.Thr127Ser Single submitter
Uncertain significance 123
- c.2949+1G>T Single submitter
- p.Ala1032Thr Single submitter ⚠
- p.Ala278Thr Single submitter ⚠
- p.Ala337Thr Single submitter ⚠
- p.Arg1043Ter Single submitter
- p.Arg1045Trp Single submitter ⚠
- p.Arg247Thr Single submitter ⚠
- p.Arg379His Single submitter ⚠
- p.Arg674Cys Single submitter Abnormality of the outer ear ⚠
- p.Arg731Gly Single submitter ⚠
- p.Arg731His Single submitter WAPL-related disorder ⚠
- p.Arg806Ter Single submitter
- p.Arg900His Single submitter ⚠
- p.Asn1004Ser Single submitter ⚠
- p.Asn1139Thr Single submitter ⚠
- p.Asn179Ser Single submitter ⚠
- p.Asn276His Single submitter ⚠
- p.Asn447Thr Single submitter ⚠
- p.Asn495Ser Single submitter ⚠
- p.Asn507Asp Single submitter ⚠
- p.Asn643Lys Single submitter ⚠
- p.Asp1012Glu Single submitter ⚠
- p.Asp1021Asn Single submitter ⚠
- p.Asp1060Glu Single submitter ⚠
- p.Asp131Val Single submitter ⚠
- p.Asp188Gly Single submitter ⚠
- p.Asp240Gly Single submitter ⚠
- p.Asp266Gly Single submitter ⚠
- p.Asp332Gly Single submitter ⚠
- p.Asp403Val Single submitter ⚠
- p.Asp516His Single submitter ⚠
- p.Asp593Glu Single submitter ⚠
- p.Asp708Gly Single submitter ⚠
- p.Asp735Gly Single submitter neurodevelopmental disorder ⚠
- p.Asp833Asn Single submitter ⚠
- p.Asp903Gly Single submitter ⚠
- p.Cys1001Phe Single submitter ⚠
- p.Cys964Ser Single submitter ⚠
- p.Gln214Arg Single submitter ⚠
- p.Gln531fs Single submitter
- p.Gln531Pro Single submitter ⚠
- p.Gln590Lys Single submitter ⚠
- p.Gln897Arg Single submitter ⚠
- p.Gln976His Single submitter ⚠
- p.Glu1006Lys Single submitter ⚠
- p.Glu107Lys Single submitter ⚠
- p.Glu1157Asp Single submitter ⚠
- p.Glu137Lys Single submitter ⚠
- p.Glu170Gln Single submitter ⚠
- p.Glu177Val Single submitter ⚠
- p.Glu328Lys Single submitter ⚠
- p.Gly1027Asp Single submitter ⚠
- p.Gly216Glu Single submitter ⚠
- p.Gly317Ser Single submitter ⚠
- p.Gly340Ala Single submitter ⚠
- p.His434Asn Single submitter ⚠
- p.Ile1015Thr Single submitter ⚠
- p.Ile1015Val Single submitter ⚠
- p.Ile1154Val Single submitter ⚠
- p.Ile204Val Single submitter ⚠
- p.Ile225Val Single submitter ⚠
- p.Ile246Thr Single submitter ⚠
- p.Ile283Thr Single submitter ⚠
- p.Ile528Val Single submitter ⚠
- p.Ile55Ser Single submitter ⚠
- p.Ile55Thr Single submitter ⚠
- p.Ile55Val Single submitter ⚠
- p.Ile611Leu Single submitter ⚠
- p.Ile611Val Single submitter ⚠
- p.Ile881Thr Single submitter ⚠
- p.Leu1103His Single submitter ⚠
- p.Leu260Phe Single submitter ⚠
- p.Leu727fs Single submitter
- p.Leu913Pro Single submitter ⚠
- p.Lys168Asn Single submitter ⚠
- p.Lys185Arg Single submitter ⚠
- p.Lys192Asn Single submitter ⚠
- p.Lys313fs Single submitter
- p.Lys474Gln Single submitter ⚠
- p.Lys843Asn Single submitter ⚠
- p.Lys87Asn Single submitter ⚠
- p.Lys911fs Single submitter
- p.Lys924Thr Single submitter ⚠
- p.Met1005Val Single submitter ⚠
- p.Met263Thr Single submitter ⚠
- p.Met377Val Single submitter ⚠
- p.Phe384Leu Single submitter ⚠
- p.Phe642fs Single submitter
- p.Pro415Leu Single submitter ⚠
- p.Pro486Leu Single submitter ⚠
- p.Pro491Thr Single submitter ⚠
- p.Pro53Arg Single submitter ⚠
- p.Pro866Thr Single submitter ⚠
- p.Ser1008Trp Single submitter ⚠
- p.Ser1069Gly Single submitter ⚠
- p.Ser213Phe Single submitter ⚠
- p.Ser319Asn Single submitter ⚠
- p.Ser319Ile Single submitter ⚠
- p.Ser329Leu Single submitter ⚠
- p.Ser485Leu Single submitter ⚠
- p.Ser501Arg Single submitter ⚠
- p.Ser756Leu Single submitter ⚠
- p.Ser77Gly Single submitter ⚠
- p.Ser81Tyr Single submitter ⚠
- p.Thr210Ser Single submitter ⚠
- p.Thr33Ala Single submitter ⚠
- p.Thr376Ala Single submitter ⚠
- p.Thr410Ala Single submitter ⚠
- p.Thr480Ala Single submitter ⚠
- p.Thr480Asn Single submitter ⚠
- p.Thr539Ile Single submitter ⚠
- p.Thr634Ile Single submitter ⚠
- p.Thr949Ile Single submitter ⚠
- p.Val1121Ala Single submitter ⚠
- p.Val129Leu Single submitter ⚠
- p.Val23Ile Single submitter ⚠
- p.Val284Ile Single submitter ⚠
- p.Val424Ile Single submitter ⚠
- p.Val424Phe Single submitter ⚠
- p.Val520Leu Single submitter ⚠
- p.Val605Met Single submitter ⚠
- p.Val922Leu Single submitter ⚠
- p.Val92Ile Single submitter ⚠