HOXB13 — 1662 ClinVar variants

All ClinVar germline HOXB13 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 855 flagged for review →

1 Pathogenic · 48 Conflicting · 27 Benign · 115 Benign/Likely benign · 127 Likely benign · 1344 Uncertain significance

Full HOXB13 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 855

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 35

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

Predictors lean, ClinVar uncertain 631

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 631

Predictors split 189

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 189

All HOXB13 variants

Pathogenic 1

Conflicting classifications of pathogenicity 48

Benign 27

  • c.601+134G>A Multiple submitters
  • c.601+49G>A Single submitter
  • c.602-335G>A Single submitter
  • c.-47C>T Single submitter
  • c.*28C>A Single submitter
  • c.*3G>A Single submitter prostate cancer, hereditary, 9
  • c.*5T>A Single submitter prostate cancer, hereditary, 9
  • c.*5T>G Single submitter prostate cancer, hereditary, 9
  • c.*7T>C Single submitter prostate cancer, hereditary, 9
  • c.*8C>A Single submitter prostate cancer, hereditary, 9
  • p.Ala7= Single submitter prostate cancer, hereditary, 9
  • p.Arg233= Single submitter prostate cancer, hereditary, 9
  • p.Arg247= Single submitter prostate cancer, hereditary, 9
  • p.Asp167= Single submitter prostate cancer, hereditary, 9
  • p.Cys100= Single submitter prostate cancer, hereditary, 9
  • p.Gln138= Single submitter prostate cancer, hereditary, 9
  • p.Gln205= Single submitter prostate cancer, hereditary, 9
  • p.Glu126= Single submitter prostate cancer, hereditary, 9
  • p.Gly132= Single submitter prostate cancer, hereditary, 9
  • p.Gly135= Single submitter prostate cancer, hereditary, 9
  • p.His36= Single submitter prostate cancer, hereditary, 9
  • p.Phe199= Single submitter prostate cancer, hereditary, 9
  • p.Pro121_Ser122= Single submitter prostate cancer, hereditary, 9
  • p.Pro190= Single submitter prostate cancer, hereditary, 9
  • p.Ser122_Arg123= Single submitter prostate cancer, hereditary, 9
  • p.Ser93= Single submitter prostate cancer, hereditary, 9
  • p.Thr8= Single submitter prostate cancer, hereditary, 9

Benign/Likely benign 115

  • c.602-9G>A Multiple submitters prostate cancer, hereditary, 9
  • p.Ala104= Multiple submitters prostate cancer, hereditary, 9
  • p.Ala107= Multiple submitters prostate cancer, hereditary, 9
  • p.Ala108= Multiple submitters prostate cancer, hereditary, 9
  • p.Ala111= Multiple submitters prostate cancer, hereditary, 9
  • p.Ala116= Multiple submitters prostate cancer, hereditary, 9
  • p.Ala173= Multiple submitters prostate cancer, hereditary, 9
  • p.Ala21= Multiple submitters prostate cancer, hereditary, 9
  • p.Ala236= Multiple submitters prostate cancer, hereditary, 9
  • p.Ala237= Multiple submitters prostate cancer, hereditary, 9
  • p.Ala29= Multiple submitters prostate cancer, hereditary, 9
  • p.Ala38= Multiple submitters hereditary neoplastic syndrome
  • p.Ala49= Multiple submitters prostate cancer, hereditary, 9
  • p.Arg214= Multiple submitters hereditary neoplastic syndrome
  • p.Arg215= Multiple submitters hereditary neoplastic syndrome
  • p.Arg229= Multiple submitters prostate cancer, hereditary, 9
  • p.Arg246= Multiple submitters prostate cancer, hereditary, 9
  • p.Arg25= Multiple submitters prostate cancer, hereditary, 9
  • p.Arg258= Multiple submitters prostate cancer, hereditary, 9
  • p.Arg267= Multiple submitters prostate cancer, hereditary, 9
  • p.Arg91= Multiple submitters prostate cancer, hereditary, 9
  • p.Asn189= Multiple submitters hereditary neoplastic syndrome
  • p.Asn266= Multiple submitters prostate cancer, hereditary, 9
  • p.Asn47= Multiple submitters prostate cancer, hereditary, 9
  • p.Asn5= Multiple submitters prostate cancer, hereditary, 9
  • p.Asp209= Multiple submitters prostate cancer, hereditary, 9
  • p.Cys211= Multiple submitters hereditary neoplastic syndrome
  • p.Cys63= Multiple submitters hereditary neoplastic syndrome
  • p.Gln102= Multiple submitters prostate cancer, hereditary, 9
  • p.Gln185= Multiple submitters prostate cancer, hereditary, 9
  • p.Gln259= Multiple submitters prostate cancer, hereditary, 9
  • p.Gln71= Multiple submitters prostate cancer, hereditary, 9
  • p.Glu112= Multiple submitters prostate cancer, hereditary, 9
  • p.Glu118= Multiple submitters prostate cancer, hereditary, 9
  • p.Glu187= Multiple submitters prostate cancer, hereditary, 9
  • p.Glu234= Multiple submitters hereditary neoplastic syndrome
  • p.Glu58= Multiple submitters prostate cancer, hereditary, 9
  • p.Gly117= Multiple submitters prostate cancer, hereditary, 9
  • p.Gly153= Multiple submitters prostate cancer, hereditary, 9
  • p.Gly20= Multiple submitters prostate cancer, hereditary, 9
  • p.Gly204= Multiple submitters prostate cancer, hereditary, 9
  • p.Gly226= Multiple submitters prostate cancer, hereditary, 9
  • p.Gly23= Multiple submitters hereditary neoplastic syndrome
  • p.Gly24= Multiple submitters prostate cancer, hereditary, 9
  • p.Gly68= Multiple submitters hereditary neoplastic syndrome
  • p.Gly84= Multiple submitters prostate cancer, hereditary, 9
  • p.His30= Multiple submitters prostate cancer, hereditary, 9
  • p.Ile241= Multiple submitters prostate cancer, hereditary, 9
  • p.Ile249= Multiple submitters hereditary neoplastic syndrome
  • p.Ile262= Multiple submitters prostate cancer, hereditary, 9
  • p.Leu106= Multiple submitters prostate cancer, hereditary, 9
  • p.Leu152= Multiple submitters hereditary neoplastic syndrome
  • p.Leu18= Multiple submitters prostate cancer, hereditary, 9
  • p.Leu19= Multiple submitters hereditary neoplastic syndrome
  • p.Leu228= Multiple submitters hereditary neoplastic syndrome
  • p.Leu255= Multiple submitters prostate cancer, hereditary, 9
  • p.Leu27= Multiple submitters hereditary neoplastic syndrome
  • p.Leu275= Multiple submitters prostate cancer, hereditary, 9
  • p.Leu33= Multiple submitters prostate cancer, hereditary, 9
  • p.Leu9= Multiple submitters prostate cancer, hereditary, 9
  • p.Lys13= Multiple submitters hereditary neoplastic syndrome
  • p.Lys225= Multiple submitters prostate cancer, hereditary, 9
  • p.Lys239= Multiple submitters prostate cancer, hereditary, 9
  • p.Lys245= Multiple submitters prostate cancer, hereditary, 9
  • p.Lys273= Multiple submitters prostate cancer, hereditary, 9
  • p.Lys61= Multiple submitters prostate cancer, hereditary, 9
  • p.Lys98= Multiple submitters prostate cancer, hereditary, 9
  • p.Phe129= Multiple submitters hereditary neoplastic syndrome
  • p.Phe240= Multiple submitters prostate cancer, hereditary, 9
  • p.Phe83= Multiple submitters hereditary neoplastic syndrome
  • p.Pro110= Multiple submitters hereditary neoplastic syndrome
  • p.Pro114= Multiple submitters hereditary neoplastic syndrome
  • p.Pro121= Multiple submitters prostate cancer, hereditary, 9
  • p.Pro131= Multiple submitters prostate cancer, hereditary, 9
  • p.Pro139= Multiple submitters prostate cancer, hereditary, 9
  • p.Pro155= Multiple submitters hereditary neoplastic syndrome
  • p.Pro158= Multiple submitters hereditary neoplastic syndrome
  • p.Pro165= Multiple submitters prostate cancer, hereditary, 9
  • p.Pro191= Multiple submitters prostate cancer, hereditary, 9
  • p.Pro222= Multiple submitters hereditary neoplastic syndrome
  • p.Pro3= Multiple submitters prostate cancer, hereditary, 9
  • p.Pro32= Multiple submitters hereditary neoplastic syndrome
  • p.Pro50= Multiple submitters prostate cancer, hereditary, 9
  • p.Pro59= Multiple submitters prostate cancer, hereditary, 9
  • p.Pro70= Multiple submitters prostate cancer, hereditary, 9
  • p.Pro77= Multiple submitters prostate cancer, hereditary, 9
  • p.Pro79= Multiple submitters prostate cancer, hereditary, 9
  • p.Ser122= Multiple submitters prostate cancer, hereditary, 9
  • p.Ser162= Multiple submitters prostate cancer, hereditary, 9
  • p.Ser171= Multiple submitters prostate cancer, hereditary, 9
  • p.Ser203= Multiple submitters prostate cancer, hereditary, 9
  • p.Ser250= Multiple submitters hereditary neoplastic syndrome
  • p.Ser254= Multiple submitters prostate cancer, hereditary, 9
  • p.Ser281= Multiple submitters prostate cancer, hereditary, 9
  • p.Ser35= Multiple submitters hereditary neoplastic syndrome
  • p.Ser56= Multiple submitters prostate cancer, hereditary, 9
  • p.Ser95= Multiple submitters hereditary neoplastic syndrome
  • p.Ser96= Multiple submitters hereditary neoplastic syndrome
  • p.Thr105= Multiple submitters prostate cancer, hereditary, 9
  • p.Thr115= Multiple submitters prostate cancer, hereditary, 9
  • p.Thr136= Multiple submitters prostate cancer, hereditary, 9
  • p.Thr253= Multiple submitters prostate cancer, hereditary, 9
  • p.Thr34= Multiple submitters hereditary neoplastic syndrome
  • p.Thr41= Multiple submitters prostate cancer, hereditary, 9
  • p.Tyr120= Multiple submitters prostate cancer, hereditary, 9
  • p.Tyr137= Multiple submitters prostate cancer, hereditary, 9
  • p.Tyr143= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr169= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr235= Multiple submitters prostate cancer, hereditary, 9
  • p.Tyr6= Multiple submitters prostate cancer, hereditary, 9
  • p.Tyr80= Multiple submitters prostate cancer, hereditary, 9
  • p.Tyr82= Multiple submitters prostate cancer, hereditary, 9
  • p.Val149= Multiple submitters hereditary neoplastic syndrome
  • p.Val28= Multiple submitters prostate cancer, hereditary, 9
  • p.Val78= Multiple submitters hereditary neoplastic syndrome

Likely benign 127

  • c.601+10T>C Multiple submitters prostate cancer, hereditary, 9
  • c.601+7C>A Multiple submitters prostate cancer, hereditary, 9
  • c.601+9A>G Multiple submitters prostate cancer, hereditary, 9
  • c.602-10C>T Multiple submitters prostate cancer, hereditary, 9
  • c.602-11A>G Multiple submitters prostate cancer, hereditary, 9
  • c.602-12C>T Multiple submitters prostate cancer, hereditary, 9
  • c.602-20C>T Multiple submitters prostate cancer, hereditary, 9
  • c.602-4G>C Multiple submitters prostate cancer, hereditary, 9
  • c.602-4G>T Multiple submitters prostate cancer, hereditary, 9
  • c.602-6G>A Multiple submitters prostate cancer, hereditary, 9
  • c.602-6G>T Multiple submitters prostate cancer, hereditary, 9
  • c.602-7C>T Multiple submitters prostate cancer, hereditary, 9
  • c.-6G>A Multiple submitters prostate cancer
  • p.Ala154= Multiple submitters hereditary neoplastic syndrome
  • p.Ala198= Multiple submitters hereditary neoplastic syndrome
  • p.Ala39= Multiple submitters hereditary neoplastic syndrome
  • p.Ala57= Multiple submitters hereditary neoplastic syndrome
  • p.Arg123= Multiple submitters hereditary neoplastic syndrome
  • p.Arg217= Multiple submitters hereditary neoplastic syndrome
  • p.Arg220= Multiple submitters hereditary neoplastic syndrome
  • p.Arg94= Multiple submitters
  • p.Asp201= Multiple submitters hereditary neoplastic syndrome
  • p.Cys183= Multiple submitters hereditary neoplastic syndrome
  • p.Cys184= Multiple submitters hereditary neoplastic syndrome
  • p.Glu119= Multiple submitters hereditary neoplastic syndrome
  • p.Glu232= Multiple submitters hereditary neoplastic syndrome
  • p.Gly216= Multiple submitters hereditary neoplastic syndrome
  • p.His206= Multiple submitters hereditary neoplastic syndrome
  • p.His64= Multiple submitters hereditary neoplastic syndrome
  • p.Leu144= Multiple submitters hereditary neoplastic syndrome
  • p.Leu163= Multiple submitters hereditary neoplastic syndrome
  • p.Leu164= Multiple submitters hereditary neoplastic syndrome
  • p.Lys218= Multiple submitters hereditary neoplastic syndrome
  • p.Lys270= Multiple submitters hereditary neoplastic syndrome
  • p.Lys277= Multiple submitters hereditary neoplastic syndrome
  • p.Pro134= Multiple submitters hereditary neoplastic syndrome
  • p.Pro193= Multiple submitters hereditary neoplastic syndrome
  • p.Pro65= Multiple submitters hereditary neoplastic syndrome
  • p.Ser202= Multiple submitters hereditary neoplastic syndrome
  • p.Thr151= Multiple submitters hereditary neoplastic syndrome
  • p.Thr73= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr109= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr87= Multiple submitters hereditary neoplastic syndrome
  • p.Val269= Multiple submitters hereditary neoplastic syndrome
  • p.Val46= Multiple submitters hereditary neoplastic syndrome
  • p.Val69= Multiple submitters hereditary neoplastic syndrome
  • c.601+11T>C Single submitter
  • c.601+12del Single submitter
  • c.601+12dup Single submitter
  • c.601+14C>G Single submitter
  • c.601+14C>T Single submitter
  • c.601+15C>G Single submitter
  • c.601+15del Single submitter
  • c.601+16T>A Single submitter
  • c.601+16T>C Single submitter
  • c.601+17_601+25del Single submitter
  • c.601+17G>A Single submitter
  • c.601+19G>A Single submitter prostate cancer, hereditary, 1
  • c.601+9A>C Single submitter
  • c.602-13dup Single submitter
  • c.602-16C>A Single submitter
  • c.602-16C>T Single submitter prostate cancer, hereditary, 1
  • c.602-17C>T Single submitter prostate cancer, hereditary, 9
  • c.602-18C>T Single submitter
  • c.602-19T>G Single submitter
  • c.602-20del Single submitter
  • c.602-8C>T Single submitter prostate cancer, hereditary, 9
  • c.*57G>A Single submitter
  • p.Ala175= Single submitter hereditary neoplastic syndrome
  • p.Ala197= Single submitter prostate cancer, hereditary, 1
  • p.Ala212= Single submitter
  • p.Ala236Ser Single submitter hereditary neoplastic syndrome
  • p.Ala282= Single submitter
  • p.Ala45= Single submitter
  • p.Ala49Ser Single submitter hereditary neoplastic syndrome
  • p.Arg159= Single submitter
  • p.Asn280= Single submitter
  • p.Asp14= Single submitter hereditary neoplastic syndrome
  • p.Asp145= Single submitter hereditary neoplastic syndrome
  • p.Asp161= Single submitter hereditary neoplastic syndrome
  • p.Asp244= Single submitter
  • p.Cys66= Single submitter hereditary neoplastic syndrome
  • p.Cys90= Single submitter
  • p.Gln170= Single submitter hereditary neoplastic syndrome
  • p.Gln265= Single submitter
  • p.Glu230= Single submitter hereditary neoplastic syndrome
  • p.Gly11= Single submitter
  • p.Gly23Trp Single submitter hereditary neoplastic syndrome
  • p.Gly4= Single submitter
  • p.Gly55= Single submitter
  • p.Gly81= Single submitter hereditary neoplastic syndrome
  • p.Gly86= Single submitter
  • p.Ile15= Single submitter hereditary neoplastic syndrome
  • p.Ile260= Single submitter
  • p.Leu174= Single submitter
  • p.Leu231= Single submitter hereditary neoplastic syndrome
  • p.Leu42= Single submitter
  • p.Lys219= Single submitter
  • p.Lys248= Single submitter hereditary neoplastic syndrome
  • p.Lys272= Single submitter hereditary neoplastic syndrome
  • p.Met43Lys Single submitter hereditary neoplastic syndrome
  • p.Phe127= Single submitter hereditary neoplastic syndrome
  • p.Phe213= Single submitter hereditary neoplastic syndrome
  • p.Pro124= Single submitter hereditary neoplastic syndrome
  • p.Pro208= Single submitter hereditary neoplastic syndrome
  • p.Pro37= Single submitter hereditary neoplastic syndrome
  • p.Pro44= Single submitter hereditary neoplastic syndrome
  • p.Pro67= Single submitter hereditary neoplastic syndrome
  • p.Pro99= Single submitter hereditary neoplastic syndrome
  • p.Pro99Thr Single submitter hereditary neoplastic syndrome
  • p.Ser122Asn Single submitter hereditary neoplastic syndrome
  • p.Ser142= Single submitter hereditary neoplastic syndrome
  • p.Ser147= Single submitter hereditary neoplastic syndrome
  • p.Ser180= Single submitter
  • p.Ser224= Single submitter hereditary neoplastic syndrome
  • p.Ser256= Single submitter
  • p.Ser31= Single submitter hereditary neoplastic syndrome
  • p.Ser74= Single submitter
  • p.Ser89= Single submitter hereditary neoplastic syndrome
  • p.Ter285= Single submitter
  • p.Thr113= Single submitter hereditary neoplastic syndrome
  • p.Thr242= Single submitter
  • p.Thr261= Single submitter
  • p.Thr283= Single submitter hereditary neoplastic syndrome
  • p.Tyr133= Single submitter hereditary neoplastic syndrome
  • p.Tyr223= Single submitter hereditary neoplastic syndrome
  • p.Tyr48= Single submitter hereditary neoplastic syndrome

Uncertain significance 1344

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