UTP4 — 159 ClinVar variants
All ClinVar germline UTP4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 63 flagged for review →
9 Conflicting · 12 Benign · 6 Benign/Likely benign · 60 Likely benign · 72 Uncertain significance
Full UTP4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 63
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.
-
UTP4 p.Gly101Val
Conflicting
Single submitter
hereditary North American Indian childhood cirrhosis
Predictors lean, ClinVar uncertain 52
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
UTP4 p.Arg417Trp
Uncertain significance
Multiple submitters
hereditary North American Indian childhood cirrhosis
- UTP4 p.Arg634Gln Uncertain significance Multiple submitters
- UTP4 p.Asn25Ser Uncertain significance Multiple submitters
-
UTP4 p.Asn537Ser
Uncertain significance
Multiple submitters
UTP4-related disorder
-
UTP4 p.Gly459Glu
Uncertain significance
Multiple submitters
hereditary North American Indian childhood cirrhosis
-
UTP4 p.Val522Met
Uncertain significance
Multiple submitters
UTP4-related disorder
- UTP4 p.Ala326Thr Uncertain significance Single submitter
- UTP4 p.Ala638Thr Uncertain significance Single submitter
- UTP4 p.Arg438Cys Uncertain significance Single submitter
-
UTP4 p.Arg635Lys
Uncertain significance
Single submitter
hereditary North American Indian childhood cirrhosis
- UTP4 p.Arg666Trp Uncertain significance Single submitter
-
UTP4 p.Asn140Asp
Uncertain significance
Single submitter
hereditary North American Indian childhood cirrhosis
- UTP4 p.Asn26Thr Uncertain significance Single submitter
- UTP4 p.Asn497Ser Uncertain significance Single submitter
-
UTP4 p.Asn80His
Uncertain significance
Single submitter
UTP4-related disorder
- UTP4 p.Asp246Glu Uncertain significance Single submitter
- UTP4 p.Asp380Gly Uncertain significance Single submitter
- UTP4 p.Asp670Asn Uncertain significance Single submitter
- UTP4 p.Gln264Glu Uncertain significance Single submitter
-
UTP4 p.Gln559His
Uncertain significance
Single submitter
hereditary North American Indian childhood cirrhosis
- UTP4 p.Gln570Glu Uncertain significance Single submitter
- UTP4 p.Gln72Arg Uncertain significance Single submitter
- UTP4 p.Glu82Lys Uncertain significance Single submitter
- UTP4 p.Gly254Asp Uncertain significance Single submitter
- UTP4 p.Ile210Val Uncertain significance Single submitter
- UTP4 p.Ile534Val Uncertain significance Single submitter
-
UTP4 p.Leu541Phe
Uncertain significance
Single submitter
hereditary North American Indian childhood cirrhosis
- UTP4 p.Lys680Glu Uncertain significance Single submitter
- UTP4 p.Met487Ile Uncertain significance Single submitter
- UTP4 p.Met487Val Uncertain significance Single submitter
-
UTP4 p.Phe311Leu
Uncertain significance
Single submitter
UTP4-related disorder
- UTP4 p.Pro267Ala Uncertain significance Single submitter
- UTP4 p.Pro390Leu Uncertain significance Single submitter
-
UTP4 p.Ser211Asn
Uncertain significance
Single submitter
hereditary North American Indian childhood cirrhosis
- UTP4 p.Thr363Ala Uncertain significance Single submitter
- UTP4 p.Thr366Ala Uncertain significance Single submitter
- UTP4 p.Thr366Ile Uncertain significance Single submitter
- UTP4 p.Thr39Ala Uncertain significance Single submitter
- UTP4 p.Thr504Ala Uncertain significance Single submitter
- UTP4 p.Thr637Ile Uncertain significance Single submitter
- UTP4 p.Val191Met Uncertain significance Single submitter
- UTP4 p.Val244Ile Uncertain significance Single submitter
-
UTP4 p.Val252Leu
Uncertain significance
Single submitter
hereditary North American Indian childhood cirrhosis
- UTP4 p.Val252Met Uncertain significance Single submitter
- UTP4 p.Val310Ile Uncertain significance Single submitter
- UTP4 p.Val33Ala Uncertain significance Single submitter
-
UTP4 p.Val484Gly
Uncertain significance
Single submitter
hereditary North American Indian childhood cirrhosis
-
UTP4 p.Cys520Tyr
Uncertain significance
No assertion criteria
UTP4-related disorder
-
UTP4 p.Ile160Val
Uncertain significance
No assertion criteria
UTP4-related disorder
-
UTP4 p.Pro649His
Uncertain significance
No assertion criteria
UTP4-related disorder
-
UTP4 p.Thr387Ala
Uncertain significance
No assertion criteria
UTP4-related disorder
-
UTP4 p.Thr450Ala
Uncertain significance
No assertion criteria
UTP4-related disorder
Predictors split 10
The independent predictors disagree with each other — read with care.
-
UTP4 p.Arg291His
Uncertain significance
Multiple submitters
hereditary North American Indian childhood cirrhosis
- UTP4 p.Arg143Trp Uncertain significance Single submitter
- UTP4 p.Arg147His Uncertain significance Single submitter
-
UTP4 p.Arg291Cys
Uncertain significance
Single submitter
hereditary North American Indian childhood cirrhosis
-
UTP4 p.Cys395Arg
Conflicting
Single submitter
hereditary North American Indian childhood cirrhosis
- UTP4 p.Ser223Leu Uncertain significance Single submitter
- UTP4 p.Ser456Leu Uncertain significance Single submitter
- UTP4 p.Tyr647Cys Uncertain significance Single submitter
- UTP4 p.Val179Phe Likely benign Single submitter
-
UTP4 p.Ser192Cys
Uncertain significance
No assertion criteria
UTP4-related disorder
All UTP4 variants
Conflicting classifications of pathogenicity 9
- c.1165-7T>C Single submitter hereditary North American Indian childhood cirrhosis
- p.Arg565Trp Single submitter hereditary North American Indian childhood cirrhosis
- p.Asn512= Single submitter hereditary North American Indian childhood cirrhosis
- p.Cys395Arg Single submitter hereditary North American Indian childhood cirrhosis ⚠
- p.Gly101Val Single submitter hereditary North American Indian childhood cirrhosis ⚠
- p.Gly361= Single submitter hereditary North American Indian childhood cirrhosis
- p.Phe436= Single submitter hereditary North American Indian childhood cirrhosis
- p.Pro282= Single submitter hereditary North American Indian childhood cirrhosis
- p.Ser177= Single submitter hereditary North American Indian childhood cirrhosis
Benign 12
- c.*68A>G Multiple submitters hereditary North American Indian childhood cirrhosis
- p.Ala90= Multiple submitters hereditary North American Indian childhood cirrhosis
- p.Arg636Cys Multiple submitters hereditary North American Indian childhood cirrhosis
- p.Asn419= Multiple submitters hereditary North American Indian childhood cirrhosis
- p.Asp238= Multiple submitters hereditary North American Indian childhood cirrhosis
- c.1834-3dup Single submitter
- c.1945-12A>G Single submitter
- p.Gln284= Single submitter
- p.Glu319= Single submitter
- p.Ile197= Single submitter
- p.Ile338= Single submitter
- p.Tyr323= Single submitter
Benign/Likely benign 6
- c.1164+8A>G Multiple submitters hereditary North American Indian childhood cirrhosis
- c.1287+4A>G Multiple submitters hereditary North American Indian childhood cirrhosis
- p.Arg438His Multiple submitters hereditary North American Indian childhood cirrhosis
- p.Ile596= Multiple submitters hereditary North American Indian childhood cirrhosis
- p.Ser205= Multiple submitters hereditary North American Indian childhood cirrhosis
- p.Val212Ala Multiple submitters hereditary North American Indian childhood cirrhosis
Likely benign 60
- p.Leu499= Multiple submitters
- c.1003-17T>C Single submitter
- c.1100-17G>C Single submitter
- c.1100-18G>T Single submitter
- c.1164+19G>A Single submitter
- c.1288-19A>G Single submitter
- c.1288-6C>T Single submitter
- c.1552-12dup Single submitter
- c.1648-17G>T Single submitter
- c.1834-18G>A Single submitter
- c.1944+6A>G Single submitter
- c.352-16C>T Single submitter
- p.Ala178= Single submitter
- p.Ala256= Single submitter
- p.Ala531= Single submitter
- p.Arg636His Single submitter
- p.Asp289= Single submitter
- p.Gln350= Single submitter
- p.Glu356= Single submitter
- p.Gly190= Single submitter
- p.Gly571= Single submitter
- p.His509= Single submitter
- p.His573= Single submitter
- p.His585= Single submitter
- p.Ile130= Single submitter
- p.Ile543= Single submitter
- p.Leu300= Single submitter
- p.Leu620= Single submitter
- p.Lys217= Single submitter
- p.Phe12= Single submitter
- p.Phe75= Single submitter
- p.Pro155= Single submitter
- p.Pro155His Single submitter
- p.Pro593= Single submitter
- p.Ser446= Single submitter
- p.Thr227= Single submitter
- p.Thr255= Single submitter
- p.Thr292= Single submitter
- p.Thr627= Single submitter
- p.Tyr95= Single submitter
- p.Val179Phe Single submitter ⚠
- p.Val492= Single submitter
- c.1002+6T>C No assertion criteria UTP4-related disorder
- c.1164+6G>A No assertion criteria UTP4-related disorder
- c.1648-10C>G No assertion criteria UTP4-related disorder
- c.436+7G>A No assertion criteria UTP4-related disorder
- c.910+4_910+5delinsAA No assertion criteria UTP4-related disorder
- c.*10C>T No assertion criteria UTP4-related disorder
- p.Ala299= No assertion criteria UTP4-related disorder
- p.Ala325= No assertion criteria UTP4-related disorder
- p.Ala486= No assertion criteria UTP4-related disorder
- p.Ala501= No assertion criteria UTP4-related disorder
- p.Gln115= No assertion criteria UTP4-related disorder
- p.His599= No assertion criteria UTP4-related disorder
- p.Ile583= No assertion criteria UTP4-related disorder
- p.Leu31= No assertion criteria UTP4-related disorder
- p.Pro536= No assertion criteria UTP4-related disorder
- p.Ser467= No assertion criteria UTP4-related disorder
- p.Ser610= No assertion criteria UTP4-related disorder
- p.Tyr602= No assertion criteria UTP4-related disorder
Uncertain significance 72
- c.1287+6T>C Multiple submitters hereditary North American Indian childhood cirrhosis
- c.1444+6A>C Multiple submitters hereditary North American Indian childhood cirrhosis
- p.Arg291His Multiple submitters hereditary North American Indian childhood cirrhosis ⚠
- p.Arg417Trp Multiple submitters hereditary North American Indian childhood cirrhosis ⚠
- p.Arg634Gln Multiple submitters ⚠
- p.Asn25Ser Multiple submitters ⚠
- p.Asn537Ser Multiple submitters UTP4-related disorder ⚠
- p.Gly459Glu Multiple submitters hereditary North American Indian childhood cirrhosis ⚠
- p.Val522Met Multiple submitters UTP4-related disorder ⚠
- c.1002+15C>T Single submitter hereditary North American Indian childhood cirrhosis
- c.739-6C>G Single submitter hereditary North American Indian childhood cirrhosis
- c.-2-3T>C Single submitter hereditary North American Indian childhood cirrhosis
- c.*67A>C Single submitter hereditary North American Indian childhood cirrhosis
- p.Ala326Thr Single submitter ⚠
- p.Ala638Thr Single submitter ⚠
- p.Arg143Trp Single submitter ⚠
- p.Arg147His Single submitter ⚠
- p.Arg291Cys Single submitter hereditary North American Indian childhood cirrhosis ⚠
- p.Arg438Cys Single submitter ⚠
- p.Arg635Lys Single submitter hereditary North American Indian childhood cirrhosis ⚠
- p.Arg666Trp Single submitter ⚠
- p.Asn140Asp Single submitter hereditary North American Indian childhood cirrhosis ⚠
- p.Asn26Thr Single submitter ⚠
- p.Asn497Ser Single submitter ⚠
- p.Asn80His Single submitter UTP4-related disorder ⚠
- p.Asp246Glu Single submitter ⚠
- p.Asp380Gly Single submitter ⚠
- p.Asp670Asn Single submitter ⚠
- p.Gln264Glu Single submitter ⚠
- p.Gln458Ter Single submitter
- p.Gln559His Single submitter hereditary North American Indian childhood cirrhosis ⚠
- p.Gln570Glu Single submitter ⚠
- p.Gln72Arg Single submitter ⚠
- p.Glu82Lys Single submitter ⚠
- p.Gly254Asp Single submitter ⚠
- p.Ile19= Single submitter hereditary North American Indian childhood cirrhosis
- p.Ile210Val Single submitter ⚠
- p.Ile534Val Single submitter ⚠
- p.Leu541Phe Single submitter hereditary North American Indian childhood cirrhosis ⚠
- p.Lys680Glu Single submitter ⚠
- p.Met487Ile Single submitter ⚠
- p.Met487Val Single submitter ⚠
- p.Phe311Leu Single submitter UTP4-related disorder ⚠
- p.Pro267Ala Single submitter ⚠
- p.Pro390Leu Single submitter ⚠
- p.Pro676Leu Single submitter
- p.Ser211Asn Single submitter hereditary North American Indian childhood cirrhosis ⚠
- p.Ser223Leu Single submitter ⚠
- p.Ser339del Single submitter
- p.Ser439= Single submitter
- p.Ser456Leu Single submitter ⚠
- p.Thr363Ala Single submitter ⚠
- p.Thr366Ala Single submitter ⚠
- p.Thr366Ile Single submitter ⚠
- p.Thr39Ala Single submitter ⚠
- p.Thr504Ala Single submitter ⚠
- p.Thr637Ile Single submitter ⚠
- p.Tyr647Cys Single submitter ⚠
- p.Val191Met Single submitter ⚠
- p.Val244Ile Single submitter ⚠
- p.Val252Leu Single submitter hereditary North American Indian childhood cirrhosis ⚠
- p.Val252Met Single submitter ⚠
- p.Val310Ile Single submitter ⚠
- p.Val33Ala Single submitter ⚠
- p.Val484Gly Single submitter hereditary North American Indian childhood cirrhosis ⚠
- p.Cys340Gly No assertion criteria UTP4-related disorder
- p.Cys520Tyr No assertion criteria UTP4-related disorder ⚠
- p.Ile160Val No assertion criteria UTP4-related disorder ⚠
- p.Pro649His No assertion criteria UTP4-related disorder ⚠
- p.Ser192Cys No assertion criteria UTP4-related disorder ⚠
- p.Thr387Ala No assertion criteria UTP4-related disorder ⚠
- p.Thr450Ala No assertion criteria UTP4-related disorder ⚠