Sugi Variant

Sugi Variant/BUB1B

BUB1B — 2314 ClinVar variants

All ClinVar germline BUB1B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1372 flagged for review →

53 Pathogenic · 7 Pathogenic/Likely pathogenic · 20 Likely pathogenic · 44 Conflicting · 53 Benign · 12 Benign/Likely benign · 678 Likely benign · 1447 Uncertain significance

Full BUB1B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1372

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.

Predictors agree, ClinVar conflicts 27

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 1168

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 1168

Predictors split 176

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 176

All BUB1B variants

Pathogenic 53

  • p.Arg114Ter Multiple submitters mosaic variegated aneuploidy syndrome 1
  • p.Arg120Ter Multiple submitters mosaic variegated aneuploidy syndrome 1
  • p.Asp777fs Multiple submitters Inborn genetic diseases
  • p.Gln267Ter Multiple submitters mosaic variegated aneuploidy syndrome 1
  • p.Ala559fs Single submitter
  • p.Ala789fs Single submitter mosaic variegated aneuploidy syndrome 1
  • p.Arg104fs Single submitter mosaic variegated aneuploidy syndrome 1
  • p.Arg349fs Single submitter mosaic variegated aneuploidy syndrome 1
  • p.Arg381fs Single submitter mosaic variegated aneuploidy syndrome 1
  • p.Arg463Ter Single submitter mosaic variegated aneuploidy syndrome 1
  • p.Arg550Ter Single submitter mosaic variegated aneuploidy syndrome 1
  • p.Arg555Ter Single submitter mosaic variegated aneuploidy syndrome 1
  • p.Arg770Ter Single submitter mosaic variegated aneuploidy syndrome 1
  • p.Arg814fs Single submitter mosaic variegated aneuploidy syndrome 1
  • p.Asn268fs Single submitter mosaic variegated aneuploidy syndrome 1
  • p.Cys504Ter Single submitter mosaic variegated aneuploidy syndrome 1
  • p.Gln293Ter Single submitter mosaic variegated aneuploidy syndrome 1
  • p.Gln309Ter Single submitter mosaic variegated aneuploidy syndrome 1
  • p.Gln383Ter Single submitter mosaic variegated aneuploidy syndrome 1
  • p.Gln460Ter Single submitter mosaic variegated aneuploidy syndrome 1
  • p.Gln481Ter Single submitter mosaic variegated aneuploidy syndrome 1
  • p.Gln57Ter Single submitter mosaic variegated aneuploidy syndrome 1
  • p.Gln652Ter Single submitter mosaic variegated aneuploidy syndrome 1
  • p.Gln950Ter Single submitter mosaic variegated aneuploidy syndrome 1
  • p.Glu305Ter Single submitter mosaic variegated aneuploidy syndrome 1
  • p.Glu63_Tyr64insTer Single submitter mosaic variegated aneuploidy syndrome 1
  • p.Glu636fs Single submitter mosaic variegated aneuploidy syndrome 1
  • p.Glu736_Leu737insTer Single submitter mosaic variegated aneuploidy syndrome 1
  • p.Glu95_Ser96insTer Single submitter mosaic variegated aneuploidy syndrome 1
  • p.Gly491fs Single submitter mosaic variegated aneuploidy syndrome 1
  • p.His193fs Single submitter mosaic variegated aneuploidy syndrome 1
  • p.His880fs Single submitter mosaic variegated aneuploidy syndrome 1
  • p.Leu32fs Single submitter mosaic variegated aneuploidy syndrome 1
  • p.Leu433Ter Single submitter mosaic variegated aneuploidy syndrome 1
  • p.Leu959Ter Single submitter mosaic variegated aneuploidy syndrome 1
  • p.Lys400Ter Single submitter mosaic variegated aneuploidy syndrome 1
  • p.Lys438fs Single submitter mosaic variegated aneuploidy syndrome 1
  • p.Lys966Ter Single submitter mosaic variegated aneuploidy syndrome 1
  • p.Met300fs Single submitter mosaic variegated aneuploidy syndrome 1
  • p.Phe581fs Single submitter mosaic variegated aneuploidy syndrome 1
  • p.Ser191fs Single submitter mosaic variegated aneuploidy syndrome 1
  • p.Ser232fs Single submitter mosaic variegated aneuploidy syndrome 1
  • p.Ser435fs Single submitter mosaic variegated aneuploidy syndrome 1
  • p.Ser738fs Single submitter mosaic variegated aneuploidy syndrome 1
  • p.Thr237fs Single submitter mosaic variegated aneuploidy syndrome 1
  • p.Thr291fs Single submitter mosaic variegated aneuploidy syndrome 1
  • p.Thr718fs Single submitter mosaic variegated aneuploidy syndrome 1
  • p.Tyr141Ter Single submitter mosaic variegated aneuploidy syndrome 1
  • p.Tyr155fs Single submitter mosaic variegated aneuploidy syndrome 1
  • p.Tyr766Ter Single submitter mosaic variegated aneuploidy syndrome 1
  • p.Tyr772Ter Single submitter mosaic variegated aneuploidy syndrome 1
  • p.Tyr778Ter Single submitter mosaic variegated aneuploidy syndrome 1
  • p.Tyr826Ter Single submitter mosaic variegated aneuploidy syndrome 1

Pathogenic/Likely pathogenic 7

  • p.Arg194Ter Multiple submitters mosaic variegated aneuploidy syndrome 1
  • p.Arg199Ter Multiple submitters mosaic variegated aneuploidy syndrome 1
  • p.Arg67Ter Multiple submitters BUB1B-related disorder
  • p.Arg80_Tyr81insTer Multiple submitters mosaic variegated aneuploidy syndrome 1
  • p.His856fs Multiple submitters mosaic variegated aneuploidy syndrome 1
  • p.Leu737Ter Multiple submitters mosaic variegated aneuploidy syndrome 1
  • p.Ser788fs Multiple submitters mosaic variegated aneuploidy syndrome 1

Likely pathogenic 20

  • p.Ala957fs Multiple submitters mosaic variegated aneuploidy syndrome 1
  • c.2009+1G>A Single submitter
  • c.2285-2A>G Single submitter mosaic variegated aneuploidy syndrome 1
  • c.2386-2A>G Single submitter mosaic variegated aneuploidy syndrome 1
  • c.239+2T>C Single submitter mosaic variegated aneuploidy syndrome 1
  • c.36-1G>A Single submitter mosaic variegated aneuploidy syndrome 1
  • c.581+1G>T Single submitter mosaic variegated aneuploidy syndrome 1
  • c.751+1G>T Single submitter mosaic variegated aneuploidy syndrome 1
  • c.967-2A>T Single submitter mosaic variegated aneuploidy syndrome 1
  • p.Ala332fs Single submitter mosaic variegated aneuploidy syndrome 1
  • p.Arg224Ter Single submitter
  • p.Arg317fs Single submitter
  • p.Asp917fs Single submitter
  • p.Gln223Ter Single submitter mosaic variegated aneuploidy syndrome
  • p.Gln34Ter Single submitter BUB1B-related disorder
  • p.Gln467His Single submitter mosaic variegated aneuploidy syndrome 1 ⚠
  • p.Gly929fs Single submitter BUB1B-related disorder
  • p.Leu936fs Single submitter mosaic variegated aneuploidy syndrome 1
  • p.Thr458fs Single submitter mosaic variegated aneuploidy syndrome 1
  • p.Trp158Ter Single submitter premature chromatid separation trait

Conflicting classifications of pathogenicity 44

Benign 53

Benign/Likely benign 12

  • c.180-3C>T Multiple submitters Inborn genetic diseases
  • c.2851-17G>A Multiple submitters mosaic variegated aneuploidy syndrome 1
  • c.751+15C>T Multiple submitters mosaic variegated aneuploidy syndrome 1
  • p.Arg550Gln Multiple submitters mosaic variegated aneuploidy syndrome 1
  • p.Asn1004Ser Multiple submitters colorectal cancer
  • p.Asp952= Multiple submitters colorectal cancer
  • p.Lys94= Multiple submitters colorectal cancer
  • p.Phe410= Multiple submitters Inborn genetic diseases
  • p.Pro640= Multiple submitters Inborn genetic diseases
  • p.Ser191= Multiple submitters Inborn genetic diseases
  • p.Thr40Met Multiple submitters mosaic variegated aneuploidy syndrome 1
  • p.Tyr116= Multiple submitters Inborn genetic diseases

Likely benign 678

Showing the top 300 by review status; the full set is in the sitemap.

  • c.1628+17T>G Multiple submitters mosaic variegated aneuploidy syndrome 1
  • c.1628+24_1628+32del Multiple submitters mosaic variegated aneuploidy syndrome 1
  • c.1628+9T>C Multiple submitters mosaic variegated aneuploidy syndrome 1
  • c.2284+18C>T Multiple submitters mosaic variegated aneuploidy syndrome 1
  • c.2535+19A>G Multiple submitters mosaic variegated aneuploidy syndrome 1
  • c.2850+108A>G Multiple submitters
  • c.2958-10A>G Multiple submitters mosaic variegated aneuploidy syndrome 1
  • c.36-14_36-13insG Multiple submitters mosaic variegated aneuploidy syndrome 1
  • c.751+9G>A Multiple submitters mosaic variegated aneuploidy syndrome 1
  • c.-42A>G Multiple submitters
  • p.Ala2= Multiple submitters Inborn genetic diseases
  • p.Ala228= Multiple submitters Inborn genetic diseases
  • p.Ala238= Multiple submitters Inborn genetic diseases
  • p.Ala279= Multiple submitters Inborn genetic diseases
  • p.Ala282= Multiple submitters Inborn genetic diseases
  • p.Ala430= Multiple submitters Inborn genetic diseases
  • p.Ala436= Multiple submitters mosaic variegated aneuploidy syndrome 1
  • p.Ala44= Multiple submitters mosaic variegated aneuploidy syndrome 1
  • p.Ala505= Multiple submitters Inborn genetic diseases
  • p.Ala559= Multiple submitters mosaic variegated aneuploidy syndrome 1
  • p.Ala784= Multiple submitters mosaic variegated aneuploidy syndrome 1
  • p.Ala876= Multiple submitters Inborn genetic diseases
  • p.Ala943= Multiple submitters Inborn genetic diseases
  • p.Arg165= Multiple submitters Inborn genetic diseases
  • p.Arg244= Multiple submitters mosaic variegated aneuploidy syndrome 1
  • p.Arg36= Multiple submitters mosaic variegated aneuploidy syndrome 1
  • p.Arg416= Multiple submitters Inborn genetic diseases
  • p.Arg891= Multiple submitters Inborn genetic diseases
  • p.Arg999= Multiple submitters Inborn genetic diseases
  • p.Asn28= Multiple submitters mosaic variegated aneuploidy syndrome 1
  • p.Asn513= Multiple submitters Inborn genetic diseases
  • p.Asn52= Multiple submitters mosaic variegated aneuploidy syndrome 1
  • p.Asn53= Multiple submitters Inborn genetic diseases
  • p.Asn816= Multiple submitters mosaic variegated aneuploidy syndrome 1
  • p.Asn840= Multiple submitters Inborn genetic diseases
  • p.Asn901= Multiple submitters mosaic variegated aneuploidy syndrome 1
  • p.Asp20= Multiple submitters Inborn genetic diseases
  • p.Asp675= Multiple submitters mosaic variegated aneuploidy syndrome 1
  • p.Asp73= Multiple submitters mosaic variegated aneuploidy syndrome 1
  • p.Asp804= Multiple submitters Inborn genetic diseases
  • p.Asp818= Multiple submitters Inborn genetic diseases
  • p.Cys832= Multiple submitters Inborn genetic diseases
  • p.Gln1028= Multiple submitters Inborn genetic diseases
  • p.Gln110= Multiple submitters mosaic variegated aneuploidy syndrome 1
  • p.Gln180= Multiple submitters Inborn genetic diseases
  • p.Gln192= Multiple submitters Inborn genetic diseases
  • p.Gln197= Multiple submitters Inborn genetic diseases
  • p.Gln223= Multiple submitters Inborn genetic diseases
  • p.Gln481= Multiple submitters Inborn genetic diseases
  • p.Gln57= Multiple submitters Inborn genetic diseases
  • p.Gln827= Multiple submitters Inborn genetic diseases
  • p.Gln837= Multiple submitters mosaic variegated aneuploidy syndrome 1
  • p.Gln939= Multiple submitters mosaic variegated aneuploidy syndrome 1
  • p.Glu1014= Multiple submitters mosaic variegated aneuploidy syndrome 1
  • p.Glu209= Multiple submitters mosaic variegated aneuploidy syndrome 1
  • p.Glu212= Multiple submitters mosaic variegated aneuploidy syndrome 1
  • p.Glu346= Multiple submitters Inborn genetic diseases
  • p.Glu448= Multiple submitters mosaic variegated aneuploidy syndrome 1
  • p.Glu469= Multiple submitters Inborn genetic diseases
  • p.Glu736= Multiple submitters mosaic variegated aneuploidy syndrome 1
  • p.Glu746= Multiple submitters Inborn genetic diseases
  • p.Glu764= Multiple submitters mosaic variegated aneuploidy syndrome 1
  • p.Glu790= Multiple submitters Inborn genetic diseases
  • p.Gly1021= Multiple submitters mosaic variegated aneuploidy syndrome 1
  • p.Gly129= Multiple submitters mosaic variegated aneuploidy syndrome 1
  • p.Gly35= Multiple submitters mosaic variegated aneuploidy syndrome 1
  • p.Gly657= Multiple submitters Inborn genetic diseases
  • p.Gly93= Multiple submitters Inborn genetic diseases
  • p.His895= Multiple submitters Inborn genetic diseases
  • p.Ile403= Multiple submitters mosaic variegated aneuploidy syndrome 1
  • p.Ile446= Multiple submitters Inborn genetic diseases
  • p.Ile456= Multiple submitters Inborn genetic diseases
  • p.Ile530= Multiple submitters Inborn genetic diseases
  • p.Ile659= Multiple submitters mosaic variegated aneuploidy syndrome 1
  • p.Ile889= Multiple submitters Inborn genetic diseases
  • p.Leu1035= Multiple submitters mosaic variegated aneuploidy syndrome 1
  • p.Leu109= Multiple submitters Inborn genetic diseases
  • p.Leu122= Multiple submitters mosaic variegated aneuploidy syndrome 1
  • p.Leu189= Multiple submitters mosaic variegated aneuploidy syndrome 1
  • p.Leu227= Multiple submitters Inborn genetic diseases
  • p.Leu258= Multiple submitters mosaic variegated aneuploidy syndrome 1
  • p.Leu258Phe Multiple submitters mosaic variegated aneuploidy syndrome 1
  • p.Leu432= Multiple submitters mosaic variegated aneuploidy syndrome 1
  • p.Leu494= Multiple submitters Inborn genetic diseases
  • p.Leu707= Multiple submitters Inborn genetic diseases
  • p.Leu730= Multiple submitters Inborn genetic diseases
  • p.Leu873= Multiple submitters mosaic variegated aneuploidy syndrome 1
  • p.Leu922= Multiple submitters mosaic variegated aneuploidy syndrome 1
  • p.Leu963= Multiple submitters mosaic variegated aneuploidy syndrome 1
  • p.Lys210= Multiple submitters Inborn genetic diseases
  • p.Lys357= Multiple submitters mosaic variegated aneuploidy syndrome 1
  • p.Lys373= Multiple submitters mosaic variegated aneuploidy syndrome 1
  • p.Lys393= Multiple submitters Inborn genetic diseases
  • p.Lys479= Multiple submitters Inborn genetic diseases
  • p.Lys5= Multiple submitters Inborn genetic diseases
  • p.Lys539= Multiple submitters Inborn genetic diseases
  • p.Lys6= Multiple submitters mosaic variegated aneuploidy syndrome 1
  • p.Lys752= Multiple submitters Inborn genetic diseases
  • p.Lys779= Multiple submitters Inborn genetic diseases
  • p.Lys940= Multiple submitters Inborn genetic diseases
  • p.Phe1049= Multiple submitters Inborn genetic diseases
  • p.Phe168= Multiple submitters Inborn genetic diseases
  • p.Phe954= Multiple submitters Inborn genetic diseases
  • p.Phe996= Multiple submitters Inborn genetic diseases
  • p.Pro261= Multiple submitters Inborn genetic diseases
  • p.Pro299= Multiple submitters mosaic variegated aneuploidy syndrome 1
  • p.Pro334= Multiple submitters mosaic variegated aneuploidy syndrome 1
  • p.Pro338= Multiple submitters Inborn genetic diseases
  • p.Pro371= Multiple submitters Inborn genetic diseases
  • p.Pro473= Multiple submitters Inborn genetic diseases
  • p.Pro575= Multiple submitters Inborn genetic diseases
  • p.Pro635= Multiple submitters mosaic variegated aneuploidy syndrome 1
  • p.Pro721= Multiple submitters Inborn genetic diseases
  • p.Pro802= Multiple submitters mosaic variegated aneuploidy syndrome 1
  • p.Pro90= Multiple submitters mosaic variegated aneuploidy syndrome 1
  • p.Ser157= Multiple submitters Inborn genetic diseases
  • p.Ser318= Multiple submitters Inborn genetic diseases
  • p.Ser525= Multiple submitters Inborn genetic diseases
  • p.Ser537= Multiple submitters Inborn genetic diseases
  • p.Ser564= Multiple submitters Inborn genetic diseases
  • p.Ser588= Multiple submitters Inborn genetic diseases
  • p.Ser682= Multiple submitters mosaic variegated aneuploidy syndrome 1
  • p.Ser691= Multiple submitters Inborn genetic diseases
  • p.Ser724= Multiple submitters Inborn genetic diseases
  • p.Ser788= Multiple submitters mosaic variegated aneuploidy syndrome 1
  • p.Ser797= Multiple submitters Inborn genetic diseases
  • p.Ser928= Multiple submitters Inborn genetic diseases
  • p.Thr100= Multiple submitters Inborn genetic diseases
  • p.Thr1008= Multiple submitters Inborn genetic diseases
  • p.Thr40= Multiple submitters Inborn genetic diseases
  • p.Thr471= Multiple submitters Inborn genetic diseases
  • p.Thr654= Multiple submitters mosaic variegated aneuploidy syndrome 1
  • p.Thr855= Multiple submitters Inborn genetic diseases
  • p.Tyr141= Multiple submitters Inborn genetic diseases
  • p.Val106= Multiple submitters Inborn genetic diseases
  • p.Val336= Multiple submitters Inborn genetic diseases
  • p.Val344= Multiple submitters mosaic variegated aneuploidy syndrome 1
  • p.Val4Met Multiple submitters Inborn genetic diseases
  • p.Val526= Multiple submitters Inborn genetic diseases
  • p.Val573= Multiple submitters Inborn genetic diseases
  • p.Val646= Multiple submitters Inborn genetic diseases
  • p.Val860= Multiple submitters mosaic variegated aneuploidy syndrome 1
  • p.Val920= Multiple submitters mosaic variegated aneuploidy syndrome 1
  • p.Val933= Multiple submitters Inborn genetic diseases
  • p.Val998= Multiple submitters Inborn genetic diseases
  • c.1058+11T>G Single submitter mosaic variegated aneuploidy syndrome 1
  • c.1058+16G>C Single submitter mosaic variegated aneuploidy syndrome 1
  • c.1058+17G>A Single submitter mosaic variegated aneuploidy syndrome 1
  • c.1058+7G>A Single submitter mosaic variegated aneuploidy syndrome 1
  • c.1058+7G>T Single submitter mosaic variegated aneuploidy syndrome 1
  • c.1058+8_1058+9del Single submitter mosaic variegated aneuploidy syndrome 1
  • c.1058+9G>A Single submitter mosaic variegated aneuploidy syndrome 1
  • c.1059-10G>A Single submitter mosaic variegated aneuploidy syndrome 1
  • c.1059-13T>G Single submitter mosaic variegated aneuploidy syndrome 1
  • c.1059-292A>T Single submitter
  • c.1059-3del Single submitter mosaic variegated aneuploidy syndrome 1
  • c.1288+12T>C Single submitter mosaic variegated aneuploidy syndrome 1
  • c.1288+13C>T Single submitter mosaic variegated aneuploidy syndrome 1
  • c.1288+18T>G Single submitter mosaic variegated aneuploidy syndrome 1
  • c.1288+211G>T Single submitter
  • c.1289-11A>C Single submitter mosaic variegated aneuploidy syndrome 1
  • c.1289-146G>A Single submitter
  • c.1289-4C>T Single submitter mosaic variegated aneuploidy syndrome 1
  • c.1289-7T>C Single submitter mosaic variegated aneuploidy syndrome 1
  • c.1289-8G>A Single submitter mosaic variegated aneuploidy syndrome 1
  • c.1289-9T>C Single submitter mosaic variegated aneuploidy syndrome 1
  • c.1401+18A>G Single submitter mosaic variegated aneuploidy syndrome 1
  • c.1401+20A>G Single submitter mosaic variegated aneuploidy syndrome 1
  • c.1402-40G>A Single submitter
  • c.1517+10C>T Single submitter mosaic variegated aneuploidy syndrome 1
  • c.1517+117T>A Single submitter
  • c.1517+15G>C Single submitter mosaic variegated aneuploidy syndrome 1
  • c.1517+20del Single submitter mosaic variegated aneuploidy syndrome 1
  • c.1517+7C>G Single submitter mosaic variegated aneuploidy syndrome 1
  • c.1517+9A>G Single submitter mosaic variegated aneuploidy syndrome 1
  • c.1518-17A>T Single submitter mosaic variegated aneuploidy syndrome 1
  • c.1518-5T>C Single submitter mosaic variegated aneuploidy syndrome 1
  • c.1567+10A>G Single submitter mosaic variegated aneuploidy syndrome 1
  • c.1568-12C>G Single submitter mosaic variegated aneuploidy syndrome 1
  • c.1568-14C>G Single submitter
  • c.1568-16G>A Single submitter mosaic variegated aneuploidy syndrome 1
  • c.1568-16G>T Single submitter mosaic variegated aneuploidy syndrome 1
  • c.1568-17A>G Single submitter
  • c.1568-5T>A Single submitter mosaic variegated aneuploidy syndrome 1
  • c.1628+11T>C Single submitter mosaic variegated aneuploidy syndrome 1
  • c.1628+15T>G Single submitter mosaic variegated aneuploidy syndrome 1
  • c.1628+16G>T Single submitter mosaic variegated aneuploidy syndrome 1
  • c.1628+17_1628+24del Single submitter mosaic variegated aneuploidy syndrome 1
  • c.1628+18T>G Single submitter mosaic variegated aneuploidy syndrome 1
  • c.1628+20_1628+23del Single submitter mosaic variegated aneuploidy syndrome 1
  • c.1628+20T>C Single submitter mosaic variegated aneuploidy syndrome 1
  • c.1628+24_1628+31del Single submitter mosaic variegated aneuploidy syndrome 1
  • c.1628+8del Single submitter mosaic variegated aneuploidy syndrome 1
  • c.1628+8G>A Single submitter mosaic variegated aneuploidy syndrome 1
  • c.1629-17G>A Single submitter mosaic variegated aneuploidy syndrome 1
  • c.1734+16C>T Single submitter mosaic variegated aneuploidy syndrome 1
  • c.1734+18T>C Single submitter mosaic variegated aneuploidy syndrome 1
  • c.1734+9C>T Single submitter mosaic variegated aneuploidy syndrome 1
  • c.1735-12T>C Single submitter mosaic variegated aneuploidy syndrome 1
  • c.1735-19T>C Single submitter mosaic variegated aneuploidy syndrome 1
  • c.1735-20T>A Single submitter mosaic variegated aneuploidy syndrome 1
  • c.1735-242A>G Single submitter
  • c.179+15T>C Single submitter mosaic variegated aneuploidy syndrome 1
  • c.179+16G>A Single submitter mosaic variegated aneuploidy syndrome 1
  • c.179+20C>A Single submitter mosaic variegated aneuploidy syndrome 1
  • c.179+8G>A Single submitter mosaic variegated aneuploidy syndrome 1
  • c.179+9A>G Single submitter
  • c.180-15C>T Single submitter mosaic variegated aneuploidy syndrome 1
  • c.180-234G>T Single submitter
  • c.180-7A>G Single submitter mosaic variegated aneuploidy syndrome 1
  • c.2009+10G>A Single submitter mosaic variegated aneuploidy syndrome 1
  • c.2009+17_2009+18insC Single submitter mosaic variegated aneuploidy syndrome 1
  • c.2010-11G>T Single submitter mosaic variegated aneuploidy syndrome 1
  • c.2010-16T>C Single submitter mosaic variegated aneuploidy syndrome 1
  • c.2010-19T>A Single submitter mosaic variegated aneuploidy syndrome 1
  • c.2143+12A>G Single submitter mosaic variegated aneuploidy syndrome 1
  • c.2143+13T>C Single submitter mosaic variegated aneuploidy syndrome 1
  • c.2143+15C>G Single submitter mosaic variegated aneuploidy syndrome 1
  • c.2143+16C>A Single submitter mosaic variegated aneuploidy syndrome 1
  • c.2143+17A>G Single submitter mosaic variegated aneuploidy syndrome 1
  • c.2143+19T>C Single submitter mosaic variegated aneuploidy syndrome 1
  • c.2143+20A>G Single submitter mosaic variegated aneuploidy syndrome 1
  • c.2144-13C>T Single submitter mosaic variegated aneuploidy syndrome 1
  • c.2144-14C>G Single submitter mosaic variegated aneuploidy syndrome 1
  • c.2144-14C>T Single submitter mosaic variegated aneuploidy syndrome 1
  • c.2144-4G>A Single submitter mosaic variegated aneuploidy syndrome 1
  • c.2144-6T>C Single submitter mosaic variegated aneuploidy syndrome 1
  • c.2284+11T>C Single submitter mosaic variegated aneuploidy syndrome 1
  • c.2284+13G>A Single submitter mosaic variegated aneuploidy syndrome 1
  • c.2284+17T>A Single submitter mosaic variegated aneuploidy syndrome 1
  • c.2284+8C>A Single submitter mosaic variegated aneuploidy syndrome 1
  • c.2285-12C>T Single submitter mosaic variegated aneuploidy syndrome 1
  • c.2385+13C>G Single submitter mosaic variegated aneuploidy syndrome 1
  • c.2385+7C>T Single submitter mosaic variegated aneuploidy syndrome 1
  • c.2386-10T>C Single submitter mosaic variegated aneuploidy syndrome 1
  • c.2386-4A>G Single submitter mosaic variegated aneuploidy syndrome 1
  • c.2386-5T>C Single submitter mosaic variegated aneuploidy syndrome 1
  • c.2386-6T>C Single submitter mosaic variegated aneuploidy syndrome 1
  • c.2386-9G>A Single submitter mosaic variegated aneuploidy syndrome 1
  • c.240-11C>T Single submitter mosaic variegated aneuploidy syndrome 1
  • c.240-18C>A Single submitter mosaic variegated aneuploidy syndrome 1
  • c.240-6A>C Single submitter mosaic variegated aneuploidy syndrome 1
  • c.240-8C>T Single submitter mosaic variegated aneuploidy syndrome 1
  • c.240-9C>A Single submitter mosaic variegated aneuploidy syndrome 1
  • c.2535+10A>C Single submitter mosaic variegated aneuploidy syndrome 1
  • c.2535+15A>G Single submitter mosaic variegated aneuploidy syndrome 1
  • c.2535+16A>G Single submitter mosaic variegated aneuploidy syndrome 1
  • c.2535+297C>T Single submitter
  • c.2535+8A>G Single submitter mosaic variegated aneuploidy syndrome 1
  • c.2536-20T>C Single submitter mosaic variegated aneuploidy syndrome 1
  • c.2536-302G>C Single submitter
  • c.2678+13C>G Single submitter mosaic variegated aneuploidy syndrome 1
  • c.2678+15T>G Single submitter mosaic variegated aneuploidy syndrome 1
  • c.2850+17C>A Single submitter mosaic variegated aneuploidy syndrome 1
  • c.2850+18C>T Single submitter mosaic variegated aneuploidy syndrome 1
  • c.2850+9A>G Single submitter mosaic variegated aneuploidy syndrome 1
  • c.2851-14T>C Single submitter mosaic variegated aneuploidy syndrome 1
  • c.2851-16C>T Single submitter mosaic variegated aneuploidy syndrome 1
  • c.2851-341A>T Single submitter
  • c.2957+16T>C Single submitter mosaic variegated aneuploidy syndrome 1
  • c.2957+17G>A Single submitter mosaic variegated aneuploidy syndrome 1
  • c.2957+19C>T Single submitter mosaic variegated aneuploidy syndrome 1
  • c.2957+8T>C Single submitter mosaic variegated aneuploidy syndrome 1
  • c.2958-134A>G Single submitter
  • c.2958-13T>A Single submitter mosaic variegated aneuploidy syndrome 1
  • c.35+9G>A Single submitter mosaic variegated aneuploidy syndrome 1
  • c.36-4A>G Single submitter mosaic variegated aneuploidy syndrome 1
  • c.36-8C>T Single submitter mosaic variegated aneuploidy syndrome 1
  • c.384+13C>T Single submitter mosaic variegated aneuploidy syndrome 1
  • c.384+16G>A Single submitter mosaic variegated aneuploidy syndrome 1
  • c.384+18G>A Single submitter mosaic variegated aneuploidy syndrome 1
  • c.384+9_384+12del Single submitter mosaic variegated aneuploidy syndrome 1
  • c.385-19G>A Single submitter mosaic variegated aneuploidy syndrome 1
  • c.385-7G>C Single submitter mosaic variegated aneuploidy syndrome 1
  • c.581+10_581+13del Single submitter mosaic variegated aneuploidy syndrome 1
  • c.581+18C>T Single submitter mosaic variegated aneuploidy syndrome 1
  • c.581+7T>G Single submitter mosaic variegated aneuploidy syndrome 1
  • c.581+8T>G Single submitter
  • c.582-14T>A Single submitter mosaic variegated aneuploidy syndrome 1
  • c.582-15A>G Single submitter mosaic variegated aneuploidy syndrome 1
  • c.582-6C>A Single submitter mosaic variegated aneuploidy syndrome 1
  • c.582-9C>A Single submitter mosaic variegated aneuploidy syndrome 1
  • c.751+12A>C Single submitter mosaic variegated aneuploidy syndrome 1
  • c.751+9G>C Single submitter mosaic variegated aneuploidy syndrome 1
  • c.752-5C>T Single submitter mosaic variegated aneuploidy syndrome 1
  • c.752-6T>C Single submitter mosaic variegated aneuploidy syndrome 1
  • c.966+14G>C Single submitter mosaic variegated aneuploidy syndrome 1
  • c.966+20G>T Single submitter mosaic variegated aneuploidy syndrome 1
  • c.966+7A>C Single submitter mosaic variegated aneuploidy syndrome 1
  • c.966+8C>T Single submitter mosaic variegated aneuploidy syndrome 1
  • c.967-17TTC[2] Single submitter mosaic variegated aneuploidy syndrome 1
  • c.967-4C>G Single submitter mosaic variegated aneuploidy syndrome 1
  • c.967-6C>T Single submitter mosaic variegated aneuploidy syndrome 1
  • c.967-8A>C Single submitter mosaic variegated aneuploidy syndrome 1
  • c.967-8A>G Single submitter mosaic variegated aneuploidy syndrome 1
  • p.Ala1016= Single submitter Inborn genetic diseases
  • p.Ala1017= Single submitter Inborn genetic diseases
  • p.Ala1034= Single submitter Inborn genetic diseases
  • p.Ala1046= Single submitter Inborn genetic diseases
  • p.Ala105= Single submitter Inborn genetic diseases

Uncertain significance 1447

Showing the top 300 by review status; the full set is in the sitemap.