BUB3 — 414 ClinVar variants

All ClinVar germline BUB3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 265 flagged for review →

2 Benign · 147 Likely benign · 265 Uncertain significance

Full BUB3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 265

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 177

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 177

Predictors split 88

The independent predictors disagree with each other — read with care.

All BUB3 variants

Benign 2

c.972-7C>T Single submitter
c.266-7T>C No assertion criteria BUB3-related disorder

Likely benign 147

p.Arg314= Multiple submitters
p.Ser197= Multiple submitters
p.Ser198= Multiple submitters
p.Ala131= Single submitter
p.Ala187= Single submitter
p.Ala204= Single submitter
p.Ala220= Single submitter
p.Ala280= Single submitter
p.Ala294= Single submitter
p.Ala319= Single submitter
p.Ala46= Single submitter
p.Ala58= Single submitter
p.Ala63= Single submitter
p.Ala70= Single submitter
p.Ala97= Single submitter
p.Arg158= Single submitter
p.Arg165= Single submitter
p.Arg173= Single submitter
p.Arg174= Single submitter
p.Arg186= Single submitter
p.Arg202= Single submitter
p.Arg50= Single submitter
p.Asn10= Single submitter
p.Asn130= Single submitter
p.Asn166= Single submitter
p.Asn190= Single submitter
p.Asn25= Single submitter
p.Asn259= Single submitter
p.Asn265= Single submitter
p.Asn286= Single submitter
p.Asn47= Single submitter
p.Asn5= Single submitter
p.Asn85= Single submitter
p.Asp163= Single submitter
p.Asp209= Single submitter
p.Asp302= Single submitter
p.Asp43= Single submitter
p.Asp61= Single submitter
p.Asp66= Single submitter
p.Asp76= Single submitter
p.Cys184= Single submitter
p.Cys62= Single submitter
p.Gln11= Single submitter
p.Gln136= Single submitter
p.Gln172= Single submitter
p.Gln271= Single submitter
p.Gln28= Single submitter
p.Gln315= Single submitter
p.Gln88= Single submitter
p.Glu14= Single submitter
p.Glu175= Single submitter
p.Glu228= Single submitter
p.Glu300= Single submitter
p.Glu305= Single submitter
p.Gly114= Single submitter
p.Gly168= Single submitter
p.Gly193= Single submitter
p.Gly201= Single submitter
p.Gly256= Single submitter
p.Gly310= Single submitter
p.Gly57= Single submitter
p.His246= Single submitter
p.His82= Single submitter
p.Ile231= Single submitter
p.Ile279= Single submitter
p.Ile311= Single submitter
p.Ile99= Single submitter
p.Leu122= Single submitter
p.Leu150= Single submitter
p.Leu178= Single submitter
p.Leu208= Single submitter
p.Leu226= Single submitter
p.Leu269= Single submitter
p.Leu30= Single submitter
p.Leu31= Single submitter
p.Leu51= Single submitter
p.Leu60= Single submitter
p.Leu75= Single submitter
p.Leu79= Single submitter
p.Leu84= Single submitter
p.Leu9= Single submitter
p.Leu91= Single submitter
p.Lys121= Single submitter
p.Lys179= Single submitter
p.Lys218= Single submitter
p.Lys227= Single submitter
p.Lys322= Single submitter
p.Lys52= Single submitter
p.Phe272= Single submitter
p.Phe29= Single submitter
p.Phe312= Single submitter
p.Pro106= Single submitter
p.Pro12= Single submitter
p.Pro128= Single submitter
p.Pro13= Single submitter
p.Pro24= Single submitter
p.Pro323= Single submitter
p.Pro45= Single submitter
p.Ser146= Single submitter
p.Ser18= Single submitter
p.Ser19= Single submitter
p.Ser211= Single submitter
p.Ser254= Single submitter
p.Ser27= Single submitter
p.Ser278= Single submitter
p.Ser295= Single submitter
p.Ser296= Single submitter
p.Ser325= Single submitter
p.Ser33= Single submitter
p.Ser34= Single submitter
p.Ser38= Single submitter
p.Ser48= Single submitter
p.Thr113= Single submitter
p.Thr142= Single submitter
p.Thr154= Single submitter
p.Thr2= Single submitter
p.Thr26= Single submitter
p.Thr277= Single submitter
p.Thr290= Single submitter
p.Thr304= Single submitter
p.Thr317= Single submitter
p.Thr321= Single submitter
p.Thr37= Single submitter
p.Thr56= Single submitter
p.Thr68= Single submitter
p.Thr86= Single submitter
p.Thr94= Single submitter
p.Tyr169= Single submitter
p.Tyr180= Single submitter
p.Tyr194= Single submitter
p.Tyr219= Single submitter
p.Tyr235= Single submitter
p.Tyr42= Single submitter
p.Val110= Single submitter
p.Val120= Single submitter
p.Val140= Single submitter
p.Val145= Single submitter
p.Val152= Single submitter
p.Val159= Single submitter
p.Val161= Single submitter
p.Val170= Single submitter
p.Val214= Single submitter
p.Val237= Single submitter
p.Val316= Single submitter
p.Val32= Single submitter
p.Val39= Single submitter
p.Val59= Single submitter

Uncertain significance 265

p.Ala131Val Single submitter ⚠
p.Ala155Val Single submitter ⚠
p.Ala187Gly Single submitter ⚠
p.Ala239Gly Single submitter ⚠
p.Ala292Val Single submitter ⚠
p.Ala294Glu Single submitter ⚠
p.Ala46Pro Single submitter ⚠
p.Ala46Thr Single submitter ⚠
p.Ala46Val Single submitter ⚠
p.Ala58Val Single submitter ⚠
p.Ala63Asp Single submitter ⚠
p.Ala63Thr Single submitter ⚠
p.Ala70Gly Single submitter ⚠
p.Ala70Thr Single submitter ⚠
p.Ala97Ser Single submitter ⚠
p.Arg100Gly Single submitter ⚠
p.Arg149Trp Single submitter ⚠
p.Arg165Gly Single submitter ⚠
p.Arg165Trp Single submitter ⚠
p.Arg173Gly Single submitter ⚠
p.Arg183Cys Single submitter ⚠
p.Arg183His Single submitter ⚠
p.Arg183Leu Single submitter ⚠
p.Arg183Pro Single submitter ⚠
p.Arg183Ser Single submitter ⚠
p.Arg186Gln Single submitter ⚠
p.Arg202Gln Single submitter ⚠
p.Arg274Gln Single submitter ⚠
p.Arg274Trp Single submitter ⚠
p.Arg314Cys Single submitter ⚠
p.Arg314His Single submitter ⚠
p.Arg40Cys Single submitter ⚠
p.Arg40Gly Single submitter ⚠
p.Arg40His Single submitter ⚠
p.Asn10Ser Single submitter ⚠
p.Asn130Ser Single submitter ⚠
p.Asn166Asp Single submitter ⚠
p.Asn190Lys Single submitter ⚠
p.Asn229Ser Single submitter ⚠
p.Asn229Tyr Single submitter ⚠
p.Asn230Ser Single submitter ⚠
p.Asn238Ser Single submitter ⚠
p.Asn247Lys Single submitter ⚠
p.Asn247Ser Single submitter ⚠
p.Asn259Asp Single submitter ⚠
p.Asn25Ser Single submitter ⚠
p.Asn265Lys Single submitter ⚠
p.Asn265Ser Single submitter ⚠
p.Asn286Ser Single submitter ⚠
p.Asn47Asp Single submitter ⚠
p.Asn47Ser Single submitter ⚠
p.Asp209Glu Single submitter ⚠
p.Asp255Val Single submitter ⚠
p.Asp302Gly Single submitter ⚠
p.Asp36Asn Single submitter ⚠
p.Asp36His Single submitter ⚠
p.Asp43Glu Single submitter ⚠
p.Asp43Gly Single submitter ⚠
p.Asp61His Single submitter ⚠
p.Asp76Tyr Single submitter ⚠
p.Asp87Gly Single submitter ⚠
p.Asp96Val Single submitter ⚠
p.Cys327Arg Single submitter ⚠
p.Cys327Gly Single submitter ⚠
p.Cys62Phe Single submitter ⚠
p.Gln118His Single submitter ⚠
p.Gln136His Single submitter ⚠
p.Gln181His Single submitter ⚠
p.Gln192Arg Single submitter ⚠
p.Gln233Arg Single submitter ⚠
p.Gln28His Single submitter ⚠
p.Gln28Leu Single submitter ⚠
p.Gln54Arg Single submitter ⚠
p.Gln54His Single submitter ⚠
p.Gln78Arg Single submitter ⚠
p.Gln88His Single submitter ⚠
p.Glu103Lys Single submitter ⚠
p.Glu107Ala Single submitter ⚠
p.Glu107Lys Single submitter ⚠
p.Glu14Gly Single submitter ⚠
p.Glu14Lys Single submitter ⚠
p.Glu175Asp Single submitter ⚠
p.Glu305Gln Single submitter ⚠
p.Glu308Ala Single submitter ⚠
p.Glu89Ala Single submitter ⚠
p.Glu89Gly Single submitter ⚠
p.Gly147Arg Single submitter ⚠
p.Gly153Val Single submitter ⚠
p.Gly16Ser Single submitter ⚠
p.Gly16Val Single submitter ⚠
p.Gly288Ala Single submitter ⚠
p.Gly288Arg Single submitter ⚠
p.Gly310Ala Single submitter ⚠
p.Gly310Asp Single submitter ⚠
p.Gly310Ser Single submitter ⚠
p.Gly3Ser Single submitter ⚠
p.Gly57Arg Single submitter ⚠
p.Gly57Asp Single submitter ⚠
p.Gly73Arg Single submitter ⚠
p.Gly73Glu Single submitter ⚠
p.Gly74Ala Single submitter ⚠
p.Gly74Arg Single submitter ⚠
p.Gly93Trp Single submitter ⚠
p.His243Gln Single submitter ⚠
p.His246Arg Single submitter ⚠
p.His246Tyr Single submitter ⚠
p.His273Tyr Single submitter ⚠
p.His306Tyr Single submitter ⚠
p.His55Gln Single submitter ⚠
p.His55Tyr Single submitter ⚠
p.His69Arg Single submitter ⚠
p.His69Tyr Single submitter ⚠
p.His77Arg Single submitter ⚠
p.His82Arg Single submitter ⚠
p.His82Asn Single submitter ⚠
p.His82Tyr Single submitter ⚠
p.His95Tyr Single submitter ⚠
p.Ile185Leu Single submitter ⚠
p.Ile185Met Single submitter ⚠
p.Ile185Thr Single submitter ⚠
p.Ile185Val Single submitter ⚠
p.Ile234Thr Single submitter ⚠
p.Ile240Thr Single submitter ⚠
p.Ile245Leu Single submitter ⚠
p.Ile245Met Single submitter ⚠
p.Ile245Val Single submitter ⚠
p.Ile260Met Single submitter ⚠
p.Ile260Phe Single submitter ⚠
p.Ile260Val Single submitter ⚠
p.Ile279Ser Single submitter ⚠
p.Ile279Val Single submitter ⚠
p.Ile293Leu Single submitter ⚠
p.Ile311Val Single submitter ⚠
p.Ile313Met Single submitter ⚠
p.Ile99Val Single submitter ⚠
p.Leu143Val Single submitter ⚠
p.Leu150Val Single submitter ⚠
p.Leu196Ile Single submitter ⚠
p.Leu226Val Single submitter ⚠
p.Leu269Pro Single submitter ⚠
p.Leu282His Single submitter ⚠
p.Leu291Phe Single submitter ⚠
p.Leu41Val Single submitter ⚠
p.Leu51Phe Single submitter ⚠
p.Leu60Pro Single submitter ⚠
p.Leu60Val Single submitter ⚠
p.Leu91Ile Single submitter ⚠
p.Leu91Phe Single submitter ⚠
p.Leu9Met Single submitter ⚠
p.Lys121Arg Single submitter ⚠
p.Lys139Thr Single submitter ⚠
p.Lys216Arg Single submitter ⚠
p.Lys218Met Single submitter ⚠
p.Lys21Arg Single submitter ⚠
p.Lys80Asn Single submitter ⚠
p.Met167Ile Single submitter ⚠
p.Met298Val Single submitter ⚠
p.Met301Val Single submitter ⚠
p.Met49Leu Single submitter ⚠
p.Met49Thr Single submitter ⚠
p.Met81Ile Single submitter ⚠
p.Met81Thr Single submitter ⚠
p.Phe188Leu Single submitter ⚠
p.Phe22Leu Single submitter ⚠
p.Phe284Leu Single submitter ⚠
p.Phe29Leu Single submitter ⚠
p.Phe312Ile Single submitter ⚠
p.Phe312Val Single submitter ⚠
p.Phe64Leu Single submitter ⚠
p.Pro106Leu Single submitter ⚠
p.Pro106Thr Single submitter ⚠
p.Pro128Ala Single submitter ⚠
p.Pro12Gln Single submitter ⚠
p.Pro12Ser Single submitter ⚠
p.Pro12Thr Single submitter ⚠
p.Pro13Arg Single submitter ⚠
p.Pro13His Single submitter ⚠
p.Pro13Leu Single submitter ⚠
p.Pro13Ser Single submitter ⚠
p.Pro13Thr Single submitter ⚠
p.Pro210Ala Single submitter ⚠
p.Pro210Arg Single submitter ⚠
p.Pro212Ser Single submitter ⚠
p.Pro24Arg Single submitter ⚠
p.Pro263Ala Single submitter ⚠
p.Pro263Gln Single submitter ⚠
p.Pro263Leu Single submitter ⚠
p.Pro276Thr Single submitter ⚠
p.Pro307Leu Single submitter ⚠
p.Pro323Ala Single submitter ⚠
p.Pro323Ser Single submitter ⚠
p.Pro326Ser Single submitter ⚠
p.Pro326Thr Single submitter ⚠
p.Pro45Arg Single submitter ⚠
p.Pro45Gln Single submitter ⚠
p.Pro45Leu Single submitter ⚠
p.Pro67Leu Single submitter ⚠
p.Ser115Gly Single submitter ⚠
p.Ser115Ile Single submitter ⚠
p.Ser135Cys Single submitter ⚠
p.Ser144Ala Single submitter ⚠
p.Ser146Pro Single submitter ⚠
p.Ser146Thr Single submitter ⚠
p.Ser176Tyr Single submitter ⚠
p.Ser198Ala Single submitter ⚠
p.Ser211Asn Single submitter ⚠
p.Ser211Ile Single submitter ⚠
p.Ser241Cys Single submitter ⚠
p.Ser278Arg Single submitter ⚠
p.Ser285Asn Single submitter ⚠
p.Ser325Leu Single submitter ⚠
p.Ser33Cys Single submitter ⚠
p.Ser34Cys Single submitter ⚠
p.Ser34Phe Single submitter ⚠
p.Ser34Tyr Single submitter ⚠
p.Ser38Phe Single submitter ⚠
p.Ser4Cys Single submitter ⚠
p.Thr133Asn Single submitter ⚠
p.Thr133Ile Single submitter ⚠
p.Thr142Ile Single submitter ⚠
p.Thr154Ala Single submitter ⚠
p.Thr248Ala Single submitter ⚠
p.Thr251Ala Single submitter ⚠
p.Thr26Ala Single submitter ⚠
p.Thr26Ser Single submitter ⚠
p.Thr277Ala Single submitter ⚠
p.Thr289Ala Single submitter ⚠
p.Thr290Ala Single submitter ⚠
p.Thr290Met Single submitter ⚠
p.Thr304Arg Single submitter ⚠
p.Thr37Met Single submitter ⚠
p.Thr56Ser Single submitter ⚠
p.Thr68Met Single submitter ⚠
p.Thr86Ala Single submitter ⚠
p.Thr94Ile Single submitter ⚠
p.Trp162Leu Single submitter ⚠
p.Tyr141Cys Single submitter ⚠
p.Tyr180Cys Single submitter ⚠
p.Tyr180His Single submitter ⚠
p.Tyr275Cys Single submitter ⚠
p.Tyr297Cys Single submitter ⚠
p.Tyr297His Single submitter ⚠
p.Tyr42His Single submitter ⚠
p.Tyr53Asn Single submitter ⚠
p.Tyr53Cys Single submitter ⚠
p.Tyr65Cys Single submitter ⚠
p.Tyr65Ser Single submitter ⚠
p.Val102Gly Single submitter ⚠
p.Val108Gly Single submitter ⚠
p.Val108Leu Single submitter ⚠
p.Val110Ala Single submitter ⚠
p.Val110Met Single submitter ⚠
p.Val112Ala Single submitter ⚠
p.Val145Met Single submitter ⚠
p.Val159Leu Single submitter ⚠
p.Val161Leu Single submitter ⚠
p.Val161Met Single submitter ⚠
p.Val170Met Single submitter ⚠
p.Val237Ile Single submitter ⚠
p.Val258Ile Single submitter ⚠
p.Val258Leu Single submitter ⚠
p.Val32Ile Single submitter ⚠
p.Val39Leu Single submitter ⚠
p.Val59Leu Single submitter ⚠
p.Val92Ala Single submitter ⚠