GALNT12 — 1708 ClinVar variants
All ClinVar germline GALNT12 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 980 flagged for review →
68 Conflicting · 60 Benign · 172 Benign/Likely benign · 265 Likely benign · 1143 Uncertain significance
Full GALNT12 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 980
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 38
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- GALNT12 p.Ala143Thr Conflicting Single submitter
-
GALNT12 p.Ala47Thr
Conflicting
Single submitter
colorectal cancer, susceptibility to, 1
- GALNT12 p.Ala551Val Conflicting Single submitter
-
GALNT12 p.Arg110His
Conflicting
Single submitter
colorectal cancer, susceptibility to, 1
- GALNT12 p.Arg401His Conflicting Single submitter
-
GALNT12 p.Arg552Lys
Conflicting
Single submitter
colorectal cancer, susceptibility to, 1
- GALNT12 p.Arg579His Conflicting Single submitter
- GALNT12 p.Arg7Leu Conflicting Single submitter
-
GALNT12 p.Arg9Gly
Conflicting
Single submitter
colorectal cancer, susceptibility to, 1
-
GALNT12 p.Asn189Ser
Conflicting
Single submitter
colorectal cancer, susceptibility to, 1
-
GALNT12 p.Asn203Lys
Conflicting
Single submitter
colorectal cancer, susceptibility to, 1
-
GALNT12 p.Asn203Ser
Conflicting
Single submitter
colorectal cancer, susceptibility to, 1
- GALNT12 p.Asp465Asn Conflicting Single submitter
- GALNT12 p.Gln40Leu Conflicting Single submitter
-
GALNT12 p.Gln473Arg
Conflicting
Single submitter
colorectal cancer, susceptibility to, 1
- GALNT12 p.Glu522Lys Conflicting Single submitter
- GALNT12 p.Glu523Gly Conflicting Single submitter
-
GALNT12 p.Gly272Arg
Conflicting
Single submitter
colorectal cancer, susceptibility to, 1
-
GALNT12 p.Gly277Ser
Conflicting
Single submitter
colorectal cancer, susceptibility to, 1
-
GALNT12 p.Gly447Arg
Conflicting
Single submitter
colorectal cancer, susceptibility to, 1
- GALNT12 p.Ile517Thr Conflicting Single submitter
-
GALNT12 p.Leu135Ser
Conflicting
Single submitter
colorectal cancer, susceptibility to, 1
- GALNT12 p.Lys414Arg Conflicting Single submitter
-
GALNT12 p.Lys426Arg
Conflicting
Single submitter
colorectal cancer, susceptibility to, 1
- GALNT12 p.Met65Leu Conflicting Single submitter
- GALNT12 p.Met65Val Conflicting Single submitter
-
GALNT12 p.Pro240Leu
Conflicting
Single submitter
breast neoplasm
-
GALNT12 p.Pro434Leu
Conflicting
Single submitter
colorectal cancer, susceptibility to, 1
- GALNT12 p.Pro50Gln Conflicting Single submitter
-
GALNT12 p.Pro50Leu
Conflicting
Single submitter
colorectal cancer, susceptibility to, 1
- GALNT12 p.Pro50Thr Conflicting Single submitter
- GALNT12 p.Pro53Leu Conflicting Single submitter
- GALNT12 p.Ser35Ala Conflicting Single submitter
-
GALNT12 p.Ser35Trp
Conflicting
Single submitter
colorectal cancer, susceptibility to, 1
- GALNT12 p.Ser555Leu Conflicting Single submitter
-
GALNT12 p.Thr355Ile
Conflicting
Single submitter
colorectal cancer, susceptibility to, 1
- GALNT12 p.Thr515Ile Conflicting Single submitter
- GALNT12 p.Thr55Ile Conflicting Single submitter
Predictors lean, ClinVar uncertain 752
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 752
- GALNT12 p.Ala188Val Uncertain significance Multiple submitters
- GALNT12 p.Ala202Thr Uncertain significance Multiple submitters
- GALNT12 p.Ala29Gly Uncertain significance Multiple submitters
-
GALNT12 p.Ala29Thr
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
- GALNT12 p.Ala29Val Uncertain significance Multiple submitters
- GALNT12 p.Ala311Val Uncertain significance Multiple submitters
- GALNT12 p.Ala369Ser Uncertain significance Multiple submitters
- GALNT12 p.Ala376Ser Uncertain significance Multiple submitters
-
GALNT12 p.Ala378Ser
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
- GALNT12 p.Ala378Val Uncertain significance Multiple submitters
- GALNT12 p.Ala384Val Uncertain significance Multiple submitters
-
GALNT12 p.Ala45Thr
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
-
GALNT12 p.Ala47Asp
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
-
GALNT12 p.Ala47Ser
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
- GALNT12 p.Ala48Thr Uncertain significance Multiple submitters
- GALNT12 p.Ala508Thr Uncertain significance Multiple submitters
- GALNT12 p.Ala508Val Uncertain significance Multiple submitters
- GALNT12 p.Ala511Thr Uncertain significance Multiple submitters
- GALNT12 p.Ala511Val Uncertain significance Multiple submitters
- GALNT12 p.Ala72Ser Uncertain significance Multiple submitters
-
GALNT12 p.Arg110Leu
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
-
GALNT12 p.Arg116Leu
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
- GALNT12 p.Arg137Lys Uncertain significance Multiple submitters
-
GALNT12 p.Arg154Gln
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
-
GALNT12 p.Arg154Trp
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
- GALNT12 p.Arg15Leu Uncertain significance Multiple submitters
- GALNT12 p.Arg180Gly Uncertain significance Multiple submitters
- GALNT12 p.Arg18Gln Uncertain significance Multiple submitters
-
GALNT12 p.Arg18Gly
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
-
GALNT12 p.Arg18Trp
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
-
GALNT12 p.Arg201Cys
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
-
GALNT12 p.Arg201Gly
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
-
GALNT12 p.Arg210Pro
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
- GALNT12 p.Arg212Gln Uncertain significance Multiple submitters
- GALNT12 p.Arg212Trp Uncertain significance Multiple submitters
-
GALNT12 p.Arg282Lys
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
-
GALNT12 p.Arg295Lys
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
-
GALNT12 p.Arg345Ser
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
- GALNT12 p.Arg373Cys Uncertain significance Multiple submitters
-
GALNT12 p.Arg373Leu
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
-
GALNT12 p.Arg382Cys
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
-
GALNT12 p.Arg382His
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
-
GALNT12 p.Arg38Trp
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
- GALNT12 p.Arg398Cys Uncertain significance Multiple submitters
-
GALNT12 p.Arg413Lys
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
- GALNT12 p.Arg417Leu Uncertain significance Multiple submitters
-
GALNT12 p.Arg417Trp
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
-
GALNT12 p.Arg497Gly
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
- GALNT12 p.Arg497His Uncertain significance Multiple submitters
- GALNT12 p.Arg497Leu Uncertain significance Multiple submitters
-
GALNT12 p.Arg4His
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
- GALNT12 p.Arg579Cys Uncertain significance Multiple submitters
-
GALNT12 p.Arg579Pro
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
- GALNT12 p.Arg60Gly Uncertain significance Multiple submitters
- GALNT12 p.Arg60Trp Uncertain significance Multiple submitters
- GALNT12 p.Arg61His Uncertain significance Multiple submitters
-
GALNT12 p.Arg7Gly
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
- GALNT12 p.Arg7Trp Uncertain significance Multiple submitters
-
GALNT12 p.Arg8Pro
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
-
GALNT12 p.Arg8Trp
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
- GALNT12 p.Arg9Cys Uncertain significance Multiple submitters
-
GALNT12 p.Asn122Ser
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
- GALNT12 p.Asn189Asp Uncertain significance Multiple submitters
-
GALNT12 p.Asn270Ser
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
-
GALNT12 p.Asn339Lys
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
- GALNT12 p.Asn462Lys Uncertain significance Multiple submitters
-
GALNT12 p.Asn528Ser
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
-
GALNT12 p.Asn568Lys
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
- GALNT12 p.Asn568Ser Uncertain significance Multiple submitters
- GALNT12 p.Asp109Tyr Uncertain significance Multiple submitters
- GALNT12 p.Asp133Gly Uncertain significance Multiple submitters
- GALNT12 p.Asp176Glu Uncertain significance Multiple submitters
- GALNT12 p.Asp176Val Uncertain significance Multiple submitters
- GALNT12 p.Asp179Asn Uncertain significance Multiple submitters
-
GALNT12 p.Asp280Asn
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
- GALNT12 p.Asp280Gly Uncertain significance Multiple submitters
- GALNT12 p.Asp280Tyr Uncertain significance Multiple submitters
-
GALNT12 p.Asp329Asn
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
-
GALNT12 p.Asp409Val
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
- GALNT12 p.Asp424His Uncertain significance Multiple submitters
- GALNT12 p.Asp456Asn Uncertain significance Multiple submitters
- GALNT12 p.Asp456Glu Uncertain significance Multiple submitters
-
GALNT12 p.Asp514Asn
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
-
GALNT12 p.Asp536Asn
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
-
GALNT12 p.Cys231Arg
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
- GALNT12 p.Cys254Arg Uncertain significance Multiple submitters
- GALNT12 p.Cys349Tyr Uncertain significance Multiple submitters
-
GALNT12 p.Cys358Gly
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
- GALNT12 p.Cys358Phe Uncertain significance Multiple submitters
-
GALNT12 p.Cys358Tyr
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
-
GALNT12 p.Cys422Phe
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
-
GALNT12 p.Cys506Tyr
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
-
GALNT12 p.Cys547Ser
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
- GALNT12 p.Gln275His Uncertain significance Multiple submitters
- GALNT12 p.Gln40Pro Uncertain significance Multiple submitters
- GALNT12 p.Gln421His Uncertain significance Multiple submitters
- GALNT12 p.Gln85Arg Uncertain significance Multiple submitters
-
GALNT12 p.Gln94Arg
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
-
GALNT12 p.Glu170Asp
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
- GALNT12 p.Glu206Asp Uncertain significance Multiple submitters
- GALNT12 p.Glu235Lys Uncertain significance Multiple submitters
- GALNT12 p.Glu249Lys Uncertain significance Multiple submitters
-
GALNT12 p.Glu341Lys
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
-
GALNT12 p.Glu489Lys
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
-
GALNT12 p.Glu535Asp
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
- GALNT12 p.Glu542Gln Uncertain significance Multiple submitters
- GALNT12 p.Glu542Lys Uncertain significance Multiple submitters
-
GALNT12 p.Glu554Lys
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
- GALNT12 p.Glu578Asp Uncertain significance Multiple submitters
- GALNT12 p.Glu95Lys Uncertain significance Multiple submitters
- GALNT12 p.Gly193Ala Uncertain significance Multiple submitters
- GALNT12 p.Gly236Arg Uncertain significance Multiple submitters
- GALNT12 p.Gly313Glu Uncertain significance Multiple submitters
-
GALNT12 p.Gly32Glu
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
-
GALNT12 p.Gly32Trp
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
-
GALNT12 p.Gly350Arg
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
- GALNT12 p.Gly350Asp Uncertain significance Multiple submitters
-
GALNT12 p.Gly351Val
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
- GALNT12 p.Gly362Ser Uncertain significance Multiple submitters
- GALNT12 p.Gly3Glu Uncertain significance Multiple submitters
-
GALNT12 p.Gly46Glu
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
-
GALNT12 p.Gly537Val
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
- GALNT12 p.Gly59Arg Uncertain significance Multiple submitters
- GALNT12 p.Gly76Arg Uncertain significance Multiple submitters
-
GALNT12 p.Gly76Ser
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
- GALNT12 p.Gly79Asp Uncertain significance Multiple submitters
- GALNT12 p.His101Tyr Uncertain significance Multiple submitters
- GALNT12 p.His182Tyr Uncertain significance Multiple submitters
- GALNT12 p.His363Asp Uncertain significance Multiple submitters
-
GALNT12 p.His363Tyr
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
GALNT12 p.His437Arg
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
-
GALNT12 p.His437Tyr
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
- GALNT12 p.His519Arg Uncertain significance Multiple submitters
- GALNT12 p.His571Arg Uncertain significance Multiple submitters
- GALNT12 p.Ile105Asn Uncertain significance Multiple submitters
- GALNT12 p.Ile105Phe Uncertain significance Multiple submitters
- GALNT12 p.Ile111Phe Uncertain significance Multiple submitters
- GALNT12 p.Ile142Thr Uncertain significance Multiple submitters
- GALNT12 p.Ile142Val Uncertain significance Multiple submitters
-
GALNT12 p.Ile260Met
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
- GALNT12 p.Ile469Thr Uncertain significance Multiple submitters
- GALNT12 p.Ile507Thr Uncertain significance Multiple submitters
-
GALNT12 p.Ile532Phe
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
- GALNT12 p.Leu113Pro Uncertain significance Multiple submitters
- GALNT12 p.Leu152Phe Uncertain significance Multiple submitters
- GALNT12 p.Leu187Phe Uncertain significance Multiple submitters
- GALNT12 p.Leu191Val Uncertain significance Multiple submitters
- GALNT12 p.Leu194Val Uncertain significance Multiple submitters
-
GALNT12 p.Leu227Gln
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
-
GALNT12 p.Leu22Phe
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
Predictors split 190
The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 190
-
GALNT12 p.Ala148Val
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
-
GALNT12 p.Ala211Thr
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
-
GALNT12 p.Ala219Val
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
- GALNT12 p.Ala29Glu Uncertain significance Multiple submitters
- GALNT12 p.Ala316Val Uncertain significance Multiple submitters
-
GALNT12 p.Arg110Cys
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
-
GALNT12 p.Arg120Pro
Benign/Likely benign
Multiple submitters
hereditary neoplastic syndrome
- GALNT12 p.Arg186Cys Uncertain significance Multiple submitters
-
GALNT12 p.Arg186Gly
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
-
GALNT12 p.Arg186His
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
-
GALNT12 p.Arg198His
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
-
GALNT12 p.Arg201His
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
-
GALNT12 p.Arg295Gly
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
-
GALNT12 p.Arg297Gln
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
- GALNT12 p.Arg401Cys Uncertain significance Multiple submitters
-
GALNT12 p.Arg403His
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
-
GALNT12 p.Arg417Gln
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
-
GALNT12 p.Arg67Trp
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
- GALNT12 p.Asp222Gly Uncertain significance Multiple submitters
-
GALNT12 p.Asp514Val
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
-
GALNT12 p.Cys229Ser
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
-
GALNT12 p.Glu235Gly
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
-
GALNT12 p.Glu266Gly
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
-
GALNT12 p.Glu266Lys
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
-
GALNT12 p.Glu489Gln
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
-
GALNT12 p.Glu89Gly
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
-
GALNT12 p.Glu89Lys
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
- GALNT12 p.Glu90Lys Uncertain significance Multiple submitters
- GALNT12 p.Gly88Val Uncertain significance Multiple submitters
-
GALNT12 p.His501Tyr
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
- GALNT12 p.Ile305Thr Uncertain significance Multiple submitters
- GALNT12 p.Leu107Phe Uncertain significance Multiple submitters
- GALNT12 p.Leu152Val Uncertain significance Multiple submitters
-
GALNT12 p.Leu27Pro
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
- GALNT12 p.Leu436Val Uncertain significance Multiple submitters
- GALNT12 p.Leu75Arg Uncertain significance Multiple submitters
- GALNT12 p.Phe265Leu Uncertain significance Multiple submitters
-
GALNT12 p.Pro274Ser
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
- GALNT12 p.Pro400Thr Uncertain significance Multiple submitters
- GALNT12 p.Pro434Thr Uncertain significance Multiple submitters
-
GALNT12 p.Pro52Thr
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
- GALNT12 p.Pro63Gln Uncertain significance Multiple submitters
-
GALNT12 p.Ser250Leu
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
- GALNT12 p.Ser327Cys Uncertain significance Multiple submitters
- GALNT12 p.Ser372Cys Uncertain significance Multiple submitters
- GALNT12 p.Thr151Pro Uncertain significance Multiple submitters
-
GALNT12 p.Trp262Arg
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
-
GALNT12 p.Val259Gly
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
-
GALNT12 p.Val317Leu
Uncertain significance
Multiple submitters
colorectal cancer, susceptibility to, 1
- GALNT12 p.Val509Met Uncertain significance Multiple submitters
- GALNT12 p.Ala143Pro Uncertain significance Single submitter
- GALNT12 p.Ala148Asp Uncertain significance Single submitter
- GALNT12 p.Ala202Pro Uncertain significance Single submitter
- GALNT12 p.Ala20Glu Uncertain significance Single submitter
- GALNT12 p.Ala20Ser Uncertain significance Single submitter
- GALNT12 p.Ala211Val Uncertain significance Single submitter
- GALNT12 p.Ala216Val Uncertain significance Single submitter
- GALNT12 p.Ala26Glu Uncertain significance Single submitter
- GALNT12 p.Ala376Pro Uncertain significance Single submitter
- GALNT12 p.Ala402Gly Uncertain significance Single submitter
- GALNT12 p.Ala525Asp Uncertain significance Single submitter
- GALNT12 p.Ala550Val Uncertain significance Single submitter
- GALNT12 p.Ala77Pro Uncertain significance Single submitter
- GALNT12 p.Ala81Val Uncertain significance Single submitter
- GALNT12 p.Arg110Gly Uncertain significance Single submitter
- GALNT12 p.Arg110Ser Uncertain significance Single submitter
- GALNT12 p.Arg116Cys Uncertain significance Single submitter
- GALNT12 p.Arg186Leu Uncertain significance Single submitter
- GALNT12 p.Arg198Cys Uncertain significance Single submitter
- GALNT12 p.Arg198Leu Uncertain significance Single submitter
- GALNT12 p.Arg293Thr Uncertain significance Single submitter
- GALNT12 p.Arg295Met Uncertain significance Single submitter
-
GALNT12 p.Arg297Pro
Uncertain significance
Single submitter
colorectal cancer, susceptibility to, 1
-
GALNT12 p.Arg297Trp
Conflicting
Single submitter
colorectal cancer, susceptibility to, 1
- GALNT12 p.Arg403Leu Uncertain significance Single submitter
- GALNT12 p.Arg41Cys Uncertain significance Single submitter
- GALNT12 p.Arg54Cys Uncertain significance Single submitter
- GALNT12 p.Arg57Cys Uncertain significance Single submitter
- GALNT12 p.Arg61Cys Uncertain significance Single submitter
- GALNT12 p.Arg78Trp Uncertain significance Single submitter
- GALNT12 p.Arg92Gly Uncertain significance Single submitter
- GALNT12 p.Arg92Trp Uncertain significance Single submitter
- GALNT12 p.Arg99Trp Uncertain significance Single submitter
- GALNT12 p.Asn146Asp Uncertain significance Single submitter
- GALNT12 p.Asn203Ile Likely benign Single submitter
- GALNT12 p.Asn399Lys Uncertain significance Single submitter
- GALNT12 p.Asn485Ser Uncertain significance Single submitter
- GALNT12 p.Asp131Gly Uncertain significance Single submitter
- GALNT12 p.Asp179Gly Uncertain significance Single submitter
- GALNT12 p.Asp222Asn Conflicting Single submitter
- GALNT12 p.Asp222Tyr Uncertain significance Single submitter
-
GALNT12 p.Asp303Asn
Conflicting
Single submitter
colorectal cancer, susceptibility to, 1
- GALNT12 p.Asp389Gly Uncertain significance Single submitter
- GALNT12 p.Asp424Glu Uncertain significance Single submitter
- GALNT12 p.Asp465Tyr Uncertain significance Single submitter
- GALNT12 p.Asp536Gly Uncertain significance Single submitter
- GALNT12 p.Asp565Gly Uncertain significance Single submitter
- GALNT12 p.Asp565His Uncertain significance Single submitter
- GALNT12 p.Cys479Ser Uncertain significance Single submitter
- GALNT12 p.Gln243Pro Uncertain significance Single submitter
- GALNT12 p.Gln484Arg Uncertain significance Single submitter
- GALNT12 p.Gln529His Uncertain significance Single submitter
- GALNT12 p.Gln549Arg Uncertain significance Single submitter
- GALNT12 p.Glu161Ala Uncertain significance Single submitter
- GALNT12 p.Glu161Gly Uncertain significance Single submitter
- GALNT12 p.Glu181Gln Uncertain significance Single submitter
- GALNT12 p.Glu181Gly Uncertain significance Single submitter
- GALNT12 p.Glu185Lys Uncertain significance Single submitter
- GALNT12 p.Glu185Val Uncertain significance Single submitter
- GALNT12 p.Glu190Gly Uncertain significance Single submitter
- GALNT12 p.Glu249Gly Uncertain significance Single submitter
- GALNT12 p.Glu294Asp Uncertain significance Single submitter
- GALNT12 p.Glu323Lys Uncertain significance Single submitter
- GALNT12 p.Glu62Lys Uncertain significance Single submitter
- GALNT12 p.Glu80Ala Uncertain significance Single submitter
- GALNT12 p.Glu80Lys Uncertain significance Single submitter
- GALNT12 p.Glu96Lys Uncertain significance Single submitter
- GALNT12 p.Gly269Arg Uncertain significance Single submitter
- GALNT12 p.Gly277Asp Uncertain significance Single submitter
- GALNT12 p.Gly331Arg Uncertain significance Single submitter
- GALNT12 p.Gly453Glu Uncertain significance Single submitter
- GALNT12 p.Gly46Trp Uncertain significance Single submitter
- GALNT12 p.Gly512Arg Uncertain significance Single submitter
- GALNT12 p.Gly76Ala Uncertain significance Single submitter
- GALNT12 p.Gly88Ser Uncertain significance Single submitter
-
GALNT12 p.His101Gln
Conflicting
Single submitter
GALNT12-related disorder
- GALNT12 p.Ile257Thr Uncertain significance Single submitter
- GALNT12 p.Ile257Val Uncertain significance Single submitter
- GALNT12 p.Leu124Pro Uncertain significance Single submitter
- GALNT12 p.Leu214Val Uncertain significance Single submitter
-
GALNT12 p.Leu24Pro
Uncertain significance
Single submitter
colorectal cancer, susceptibility to, 1
- GALNT12 p.Leu25Pro Uncertain significance Single submitter
- GALNT12 p.Leu28Arg Uncertain significance Single submitter
- GALNT12 p.Leu28Pro Uncertain significance Single submitter
- GALNT12 p.Leu30Ser Uncertain significance Single submitter
- GALNT12 p.Leu454Pro Uncertain significance Single submitter
- GALNT12 p.Leu563Phe Likely benign Single submitter
- GALNT12 p.Leu86Gln Uncertain significance Single submitter
- GALNT12 p.Leu86Val Uncertain significance Single submitter
- GALNT12 p.Leu91Pro Uncertain significance Single submitter
- GALNT12 p.Lys204Glu Uncertain significance Single submitter
- GALNT12 p.Lys426Asn Uncertain significance Single submitter
- GALNT12 p.Met310Ile Uncertain significance Single submitter
- GALNT12 p.Phe342Leu Uncertain significance Single submitter
- GALNT12 p.Phe342Val Uncertain significance Single submitter
- GALNT12 p.Phe446Ser Uncertain significance Single submitter
- GALNT12 p.Phe459Leu Uncertain significance Single submitter
- GALNT12 p.Phe487Leu Uncertain significance Single submitter
- GALNT12 p.Phe488Leu Uncertain significance Single submitter
- GALNT12 p.Phe559Cys Uncertain significance Single submitter
All GALNT12 variants
Conflicting classifications of pathogenicity 68
- c.1213-10G>T Single submitter colorectal cancer, susceptibility to, 1
- c.372-5T>C Single submitter colorectal cancer, susceptibility to, 1
- c.372-9T>C Single submitter colorectal cancer, susceptibility to, 1
- c.731+4C>T Single submitter
- c.*10T>C Single submitter colorectal cancer, susceptibility to, 1
- c.*1A>G Single submitter colorectal cancer, susceptibility to, 1
- c.*9G>A Single submitter colorectal cancer, susceptibility to, 1
- p.42_43GA[4] Single submitter
- p.Ala143Thr Single submitter ⚠
- p.Ala43= Single submitter colorectal cancer, susceptibility to, 1
- p.Ala47Thr Single submitter colorectal cancer, susceptibility to, 1 ⚠
- p.Ala551Val Single submitter ⚠
- p.Arg110His Single submitter colorectal cancer, susceptibility to, 1 ⚠
- p.Arg198= Single submitter colorectal cancer, susceptibility to, 1
- p.Arg244= Single submitter
- p.Arg297Trp Single submitter colorectal cancer, susceptibility to, 1 ⚠
- p.Arg373= Single submitter colorectal cancer, susceptibility to, 1
- p.Arg401His Single submitter ⚠
- p.Arg552Lys Single submitter colorectal cancer, susceptibility to, 1 ⚠
- p.Arg579His Single submitter ⚠
- p.Arg7Leu Single submitter ⚠
- p.Arg9Gly Single submitter colorectal cancer, susceptibility to, 1 ⚠
- p.Asn104= Single submitter colorectal cancer, susceptibility to, 1
- p.Asn189Ser Single submitter colorectal cancer, susceptibility to, 1 ⚠
- p.Asn203Lys Single submitter colorectal cancer, susceptibility to, 1 ⚠
- p.Asn203Ser Single submitter colorectal cancer, susceptibility to, 1 ⚠
- p.Asp222Asn Single submitter ⚠
- p.Asp303Asn Single submitter colorectal cancer, susceptibility to, 1 ⚠
- p.Asp424= Single submitter
- p.Asp465Asn Single submitter ⚠
- p.Gln40Leu Single submitter ⚠
- p.Gln473Arg Single submitter colorectal cancer, susceptibility to, 1 ⚠
- p.Glu522Lys Single submitter ⚠
- p.Glu523Gly Single submitter ⚠
- p.Glu527= Single submitter colorectal cancer, susceptibility to, 1
- p.Gly272Arg Single submitter colorectal cancer, susceptibility to, 1 ⚠
- p.Gly277Ser Single submitter colorectal cancer, susceptibility to, 1 ⚠
- p.Gly447= Single submitter colorectal cancer, susceptibility to, 1
- p.Gly447Arg Single submitter colorectal cancer, susceptibility to, 1 ⚠
- p.Gly46Arg Single submitter colorectal cancer, susceptibility to, 1
- p.His101Gln Single submitter GALNT12-related disorder ⚠
- p.Ile517Thr Single submitter ⚠
- p.Leu135Ser Single submitter colorectal cancer, susceptibility to, 1 ⚠
- p.Leu224= Single submitter colorectal cancer, susceptibility to, 1
- p.Lys414Arg Single submitter ⚠
- p.Lys426Arg Single submitter colorectal cancer, susceptibility to, 1 ⚠
- p.Lys546= Single submitter colorectal cancer, susceptibility to, 1
- p.Met1Thr Single submitter
- p.Met65Leu Single submitter ⚠
- p.Met65Val Single submitter ⚠
- p.Pro240Leu Single submitter breast neoplasm ⚠
- p.Pro434Leu Single submitter colorectal cancer, susceptibility to, 1 ⚠
- p.Pro50Gln Single submitter ⚠
- p.Pro50Leu Single submitter colorectal cancer, susceptibility to, 1 ⚠
- p.Pro50Thr Single submitter ⚠
- p.Pro52Ser Single submitter ⚠
- p.Pro53Leu Single submitter ⚠
- p.Pro58fs Single submitter colorectal cancer, susceptibility to, 1
- p.Pro71Leu Single submitter colorectal cancer, susceptibility to, 1 ⚠
- p.Ser35Ala Single submitter ⚠
- p.Ser35Trp Single submitter colorectal cancer, susceptibility to, 1 ⚠
- p.Ser555Leu Single submitter ⚠
- p.Thr355Ile Single submitter colorectal cancer, susceptibility to, 1 ⚠
- p.Thr515Ile Single submitter ⚠
- p.Thr55Ile Single submitter ⚠
- p.Trp237Ter Single submitter
- p.Val253= Single submitter colorectal cancer, susceptibility to, 1
- p.Val259Ala Single submitter colorectal cancer, susceptibility to, 1 ⚠
Benign 60
- c.1036-42del Multiple submitters hereditary neoplastic syndrome
- c.1212+128A>T Multiple submitters
- c.1213-113C>G Multiple submitters
- c.1344+61G>T Multiple submitters
- c.1458+58G>T Multiple submitters
- c.372-94G>C Multiple submitters
- c.541+74G>T Multiple submitters
- c.917+24C>T Multiple submitters
- c.*171A>G Multiple submitters
- p.Gln299= Multiple submitters hereditary neoplastic syndrome
- c.1036-204A>G Single submitter
- c.1212+178C>G Single submitter
- c.1344+135dup Single submitter
- c.1458+189C>T Single submitter
- c.1459-105T>A Single submitter
- c.1459-216G>A Single submitter
- c.1459-234C>A Single submitter
- c.1459-327T>A Single submitter
- c.372-27_372-20del Single submitter colorectal cancer, susceptibility to, 1
- c.541+124C>T Single submitter
- c.541+285G>A Single submitter
- c.542-304T>G Single submitter
- c.732-171T>G Single submitter
- c.732-229T>C Single submitter
- c.918-263A>C Single submitter
- c.*1A>C Single submitter colorectal cancer, susceptibility to, 1
- c.*67A>T Single submitter
- c.*6C>T Single submitter colorectal cancer, susceptibility to, 1
- c.*7G>A Single submitter colorectal cancer, susceptibility to, 1
- c.*8T>C Single submitter colorectal cancer, susceptibility to, 1
- p.Ala211= Single submitter colorectal cancer, susceptibility to, 1
- p.Arg212= Single submitter colorectal cancer, susceptibility to, 1
- p.Arg442= Single submitter colorectal cancer, susceptibility to, 1
- p.Arg497= Single submitter colorectal cancer, susceptibility to, 1
- p.Arg61= Single submitter colorectal cancer, susceptibility to, 1
- p.Asn134= Single submitter colorectal cancer, susceptibility to, 1
- p.Asn374= Single submitter colorectal cancer, susceptibility to, 1
- p.Asn568= Single submitter colorectal cancer, susceptibility to, 1
- p.Asn73= Single submitter colorectal cancer, susceptibility to, 1
- p.Asp131= Single submitter colorectal cancer, susceptibility to, 1
- p.Gln243= Single submitter colorectal cancer, susceptibility to, 1
- p.Glu13= Single submitter colorectal cancer, susceptibility to, 1
- p.Glu323= Single submitter colorectal cancer, susceptibility to, 1
- p.Glu354= Single submitter colorectal cancer, susceptibility to, 1
- p.Gly88= Single submitter colorectal cancer, susceptibility to, 1
- p.His114= Single submitter colorectal cancer, susceptibility to, 1
- p.His246= Single submitter colorectal cancer, susceptibility to, 1
- p.Ile141= Single submitter colorectal cancer, susceptibility to, 1
- p.Leu173= Single submitter colorectal cancer, susceptibility to, 1
- p.Leu208= Single submitter colorectal cancer, susceptibility to, 1
- p.Leu213= Single submitter colorectal cancer, susceptibility to, 1
- p.Lys530= Single submitter colorectal cancer, susceptibility to, 1
- p.Pro291= Single submitter colorectal cancer, susceptibility to, 1
- p.Ser372= Single submitter colorectal cancer, susceptibility to, 1
- p.Ser492= Single submitter colorectal cancer, susceptibility to, 1
- p.Thr138= Single submitter colorectal cancer, susceptibility to, 1
- p.Tyr321= Single submitter colorectal cancer, susceptibility to, 1
- p.Val290= Single submitter colorectal cancer, susceptibility to, 1
- p.Val317= Single submitter colorectal cancer, susceptibility to, 1
- p.Val438= Single submitter colorectal cancer, susceptibility to, 1
Benign/Likely benign 172
- c.1605+4G>A Multiple submitters colorectal cancer, susceptibility to, 1
- c.372-14C>T Multiple submitters colorectal cancer, susceptibility to, 1
- c.372-7T>A Multiple submitters hereditary neoplastic syndrome
- c.918-3dup Multiple submitters colorectal cancer, susceptibility to, 1
- p.Ala148= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Ala20= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Ala202= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Ala218= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Ala219= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Ala48= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Ala508= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Ala551= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Ala74= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Ala77= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Arg116= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Arg12= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Arg120Pro Multiple submitters hereditary neoplastic syndrome ⚠
- p.Arg137= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Arg15= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Arg201= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Arg282= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Arg295= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Arg398= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Arg401= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Arg41= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Arg564= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Arg60= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Arg67= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Arg78= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Arg8= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Arg83= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Arg99= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Asn189= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Asn203= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Asn399= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Asn499= Multiple submitters hereditary neoplastic syndrome
- p.Asn528= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Asp133= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Asp222= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Asp228= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Asp258= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Asp261= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Asp261Asn Multiple submitters hereditary neoplastic syndrome
- p.Asp280= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Asp303= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Asp409= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Asp418= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Asp441= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Cys10= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Cys125= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Cys254= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Cys521= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Gln348= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Gln415= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Gln87= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Glu119= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Glu119Val Multiple submitters hereditary neoplastic syndrome
- p.Glu181= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Glu190= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Glu338= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Glu405= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Glu440= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Glu578= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Glu95= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Glu96= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Gly17= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Gly193= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Gly221= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Gly269= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Gly277= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Gly3= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Gly312= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Gly336= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Gly337= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Gly453= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Gly481= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Gly505= Multiple submitters colorectal cancer, susceptibility to, 1
- p.His182= Multiple submitters colorectal cancer, susceptibility to, 1
- p.His234= Multiple submitters colorectal cancer, susceptibility to, 1
- p.His356= Multiple submitters colorectal cancer, susceptibility to, 1
- p.His360= Multiple submitters colorectal cancer, susceptibility to, 1
- p.His437= Multiple submitters colorectal cancer, susceptibility to, 1
- p.His480= Multiple submitters colorectal cancer, susceptibility to, 1
- p.His541= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Ile105= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Ile172= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Ile200= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Ile260= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Ile276= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Ile346= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Ile517= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Leu107= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Leu113= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Leu167= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Leu199= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Leu214= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Leu22= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Leu227Val Multiple submitters
- p.Leu24= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Leu28= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Leu283= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Leu377= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Leu429= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Leu436= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Leu478= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Leu516= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Leu533= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Leu562= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Leu581= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Leu91= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Leu93= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Lys196= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Lys375= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Lys494= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Lys573= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Phe265= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Phe279= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Phe315= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Phe445= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Phe446= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Phe488= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Phe559= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Phe576= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Pro123= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Pro164= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Pro195= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Pro240= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Pro255= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Pro274= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Pro301= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Pro308= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Pro357= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Pro464= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Pro503= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Pro561= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Pro58= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Pro63= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Pro68= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Ser108= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Ser112= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Ser139= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Ser158= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Ser163= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Ser192= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Ser250= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Ser307= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Ser359= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Ser380= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Ser555= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Ser556= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Ser569= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Ser97= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Thr225= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Thr225Ser Multiple submitters
- p.Thr286= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Thr330= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Thr431= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Thr491= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Thr500= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Thr55= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Tyr106= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Tyr132= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Tyr267= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Tyr371= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Tyr477= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Tyr490= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Val159= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Val171= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Val23= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Val284= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Val302= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Val334= Multiple submitters colorectal cancer, susceptibility to, 1
Likely benign 265
- c.1035+7A>G Multiple submitters colorectal cancer, susceptibility to, 1
- c.1036-13T>C Multiple submitters colorectal cancer, susceptibility to, 1
- c.1036-15T>C Multiple submitters colorectal cancer, susceptibility to, 1
- c.1212+15C>T Multiple submitters colorectal cancer, susceptibility to, 1
- c.1213-10_1213-8del Multiple submitters colorectal cancer, susceptibility to, 1
- c.1213-14T>C Multiple submitters colorectal cancer, susceptibility to, 1
- c.1213-6T>C Multiple submitters colorectal cancer, susceptibility to, 1
- c.1344+9G>A Multiple submitters colorectal cancer, susceptibility to, 1
- c.1345-13_1345-12del Multiple submitters colorectal cancer, susceptibility to, 1
- c.1345-18C>T Multiple submitters colorectal cancer, susceptibility to, 1
- c.1345-9T>C Multiple submitters colorectal cancer, susceptibility to, 1
- c.1459-8A>G Multiple submitters colorectal cancer, susceptibility to, 1
- c.1606-10T>C Multiple submitters colorectal cancer, susceptibility to, 1
- c.372-13G>A Multiple submitters colorectal cancer, susceptibility to, 1
- c.372-4G>T Multiple submitters colorectal cancer, susceptibility to, 1
- c.541+10G>A Multiple submitters colorectal cancer, susceptibility to, 1
- c.541+9C>T Multiple submitters colorectal cancer, susceptibility to, 1
- c.542-11dup Multiple submitters colorectal cancer, susceptibility to, 1
- c.542-4C>T Multiple submitters colorectal cancer, susceptibility to, 1
- c.732-8G>T Multiple submitters colorectal cancer, susceptibility to, 1
- c.917+9C>T Multiple submitters colorectal cancer, susceptibility to, 1
- p.Ala511= Multiple submitters
- p.Ala6= Multiple submitters
- p.Arg212Pro Multiple submitters
- p.Arg564Gln Multiple submitters
- p.Asp465= Multiple submitters
- p.Asp536= Multiple submitters
- p.Glu247= Multiple submitters
- p.Glu292= Multiple submitters
- p.Leu268= Multiple submitters
- p.Leu314= Multiple submitters
- p.Phe459= Multiple submitters
- p.Pro118= Multiple submitters
- p.Pro400= Multiple submitters
- p.Pro71= Multiple submitters colorectal cancer, susceptibility to, 1
- p.Ser343= Multiple submitters
- p.Thr5= Multiple submitters
- p.Val302Ile Multiple submitters
- c.1035+11del Single submitter
- c.1035+19T>C Single submitter
- c.1036-17C>T Single submitter colorectal cancer, susceptibility to, 1
- c.1036-18C>T Single submitter colorectal cancer, susceptibility to, 1
- c.1036-20C>T Single submitter colorectal cancer, susceptibility to, 1
- c.1036-7T>C Single submitter colorectal cancer, susceptibility to, 1
- c.1036-8G>C Single submitter colorectal cancer, susceptibility to, 1
- c.1212+11C>T Single submitter
- c.1212+12G>A Single submitter
- c.1212+18C>T Single submitter
- c.1213-15T>C Single submitter colorectal cancer, susceptibility to, 1
- c.1344+7G>A Single submitter colorectal cancer, susceptibility to, 1
- c.1345-11G>A Single submitter colorectal cancer, susceptibility to, 1
- c.1345-13A>C Single submitter colorectal cancer, susceptibility to, 1
- c.1345-13A>G Single submitter colorectal cancer, susceptibility to, 1
- c.1345-14T>C Single submitter colorectal cancer, susceptibility to, 1
- c.1345-7T>C Single submitter
- c.1458+12C>G Single submitter
- c.1458+16A>G Single submitter
- c.1458+20G>A Single submitter
- c.1458+20G>C Single submitter
- c.1458+7A>C Single submitter colorectal cancer, susceptibility to, 1
- c.1458+7A>G Single submitter
- c.1458+8T>G Single submitter colorectal cancer, susceptibility to, 1
- c.1459-10C>T Single submitter colorectal cancer, susceptibility to, 1
- c.1459-13G>T Single submitter colorectal cancer, susceptibility to, 1
- c.1459-19T>G Single submitter
- c.1459-3T>C Single submitter colorectal cancer, susceptibility to, 1
- c.1459-7T>C Single submitter colorectal cancer, susceptibility to, 1
- c.1605+16C>G Single submitter
- c.1605+19T>C Single submitter
- c.1605+7G>T Single submitter
- c.1606-19A>G Single submitter colorectal cancer, susceptibility to, 1
- c.1606-19A>T Single submitter colorectal cancer, susceptibility to, 1
- c.1606-4G>A Single submitter colorectal cancer, susceptibility to, 1
- c.1606-4G>C Single submitter
- c.1606-9C>G Single submitter
- c.371+10C>T Single submitter colorectal cancer, susceptibility to, 1
- c.371+130A>T Single submitter
- c.371+13C>T Single submitter
- c.371+19G>A Single submitter
- c.371+7G>A Single submitter colorectal cancer, susceptibility to, 1
- c.371+7G>T Single submitter colorectal cancer, susceptibility to, 1
- c.371+8C>T Single submitter colorectal cancer, susceptibility to, 1
- c.372-10G>C Single submitter colorectal cancer, susceptibility to, 1
- c.372-13G>C Single submitter colorectal cancer, susceptibility to, 1
- c.372-19A>C Single submitter colorectal cancer, susceptibility to, 1
- c.372-19A>T Single submitter colorectal cancer, susceptibility to, 1
- c.372-8A>G Single submitter colorectal cancer, susceptibility to, 1
- c.541+11G>A Single submitter
- c.541+19T>A Single submitter
- c.541+20C>G Single submitter
- c.542-13T>C Single submitter
- c.542-16T>C Single submitter
- c.542-19G>A Single submitter colorectal cancer, susceptibility to, 1
- c.542-19G>T Single submitter colorectal cancer, susceptibility to, 1
- c.542-22_542-17del Single submitter colorectal cancer, susceptibility to, 1
- c.542-6C>T Single submitter colorectal cancer, susceptibility to, 1
- c.542-7T>C Single submitter colorectal cancer, susceptibility to, 1
- c.542-9C>T Single submitter colorectal cancer, susceptibility to, 1
- c.731+11C>T Single submitter
- c.731+12G>A Single submitter
- c.731+14C>A Single submitter
- c.731+19A>G Single submitter
- c.732-13T>C Single submitter colorectal cancer, susceptibility to, 1
- c.732-14T>C Single submitter colorectal cancer, susceptibility to, 1
- c.732-15del Single submitter
- c.732-16T>C Single submitter colorectal cancer, susceptibility to, 1
- c.732-20G>A Single submitter colorectal cancer, susceptibility to, 1
- c.732-7C>T Single submitter colorectal cancer, susceptibility to, 1
- c.917+10T>A Single submitter
- c.917+10T>C Single submitter colorectal cancer, susceptibility to, 1
- c.918-10A>C Single submitter colorectal cancer, susceptibility to, 1
- c.918-12A>G Single submitter colorectal cancer, susceptibility to, 1
- c.918-12A>T Single submitter colorectal cancer, susceptibility to, 1
- c.918-13C>T Single submitter colorectal cancer, susceptibility to, 1
- c.918-16dup Single submitter colorectal cancer, susceptibility to, 1
- c.918-17A>T Single submitter colorectal cancer, susceptibility to, 1
- c.918-18G>A Single submitter
- c.918-6T>C Single submitter colorectal cancer, susceptibility to, 1
- c.918-9C>T Single submitter colorectal cancer, susceptibility to, 1
- p.Ala216= Single submitter
- p.Ala218Val Single submitter
- p.Ala251= Single submitter
- p.Ala26= Single submitter
- p.Ala29= Single submitter
- p.Ala31= Single submitter
- p.Ala376= Single submitter
- p.Ala378= Single submitter
- p.Ala384= Single submitter
- p.Ala39= Single submitter
- p.Ala402= Single submitter
- p.Ala45= Single submitter colorectal cancer, susceptibility to, 1
- p.Ala47= Single submitter
- p.Ala525Thr Single submitter
- p.Ala550= Single submitter
- p.Ala72= Single submitter
- p.Arg115= Single submitter
- p.Arg154= Single submitter
- p.Arg16= Single submitter
- p.Arg205= Single submitter
- p.Arg220= Single submitter
- p.Arg297= Single submitter
- p.Arg38= Single submitter
- p.Arg4= Single submitter
- p.Arg54= Single submitter
- p.Arg552= Single submitter
- p.Arg57= Single submitter
- p.Arg7= Single submitter
- p.Arg9= Single submitter
- p.Arg92= Single submitter
- p.Asn122= Single submitter
- p.Asn203Ile Single submitter ⚠
- p.Asn339= Single submitter
- p.Asn379= Single submitter
- p.Asn462= Single submitter
- p.Asp514= Single submitter
- p.Asp557= Single submitter
- p.Asp565= Single submitter
- p.Cys506= Single submitter
- p.Gln299Arg Single submitter
- p.Gln421= Single submitter
- p.Gln572= Single submitter
- p.Glu127= Single submitter
- p.Glu19= Single submitter
- p.Glu273= Single submitter
- p.Glu341= Single submitter
- p.Glu49= Single submitter
- p.Glu49Asp Single submitter
- p.Glu522Gln Single submitter
- p.Glu554= Single submitter
- p.Glu554Ala Single submitter
- p.Glu62= Single submitter
- p.Glu89= Single submitter
- p.Gly207= Single submitter
- p.Gly215= Single submitter
- p.Gly236= Single submitter
- p.Gly272= Single submitter
- p.Gly313= Single submitter
- p.Gly32= Single submitter
- p.Gly326= Single submitter
- p.Gly34= Single submitter
- p.Gly362= Single submitter
- p.Gly42= Single submitter
- p.Gly44= Single submitter
- p.Gly46= Single submitter
- p.Gly483= Single submitter
- p.Gly51= Single submitter
- p.Gly537= Single submitter
- p.Gly59= Single submitter
- p.Gly76= Single submitter
- p.Gly79= Single submitter
- p.His288= Single submitter
- p.His501= Single submitter
- p.Ile103= Single submitter
- p.Ile166= Single submitter
- p.Ile245= Single submitter
- p.Ile507= Single submitter
- p.Leu100= Single submitter
- p.Leu117= Single submitter
- p.Leu14= Single submitter
- p.Leu168= Single submitter
- p.Leu21= Single submitter
- p.Leu241= Single submitter
- p.Leu242= Single submitter
- p.Leu25= Single submitter
- p.Leu27= Single submitter
- p.Leu325= Single submitter
- p.Leu33= Single submitter
- p.Leu340= Single submitter
- p.Leu353= Single submitter
- p.Leu37= Single submitter
- p.Leu394= Single submitter
- p.Leu416= Single submitter
- p.Leu449= Single submitter
- p.Leu454= Single submitter
- p.Leu476= Single submitter
- p.Leu563Phe Single submitter ⚠
- p.Leu75= Single submitter
- p.Lys184= Single submitter
- p.Lys320= Single submitter
- p.Lys367= Single submitter
- p.Lys426= Single submitter
- p.Lys452= Single submitter
- p.Lys452Gln Single submitter
- p.Lys577Arg Single submitter
- p.Met513Thr Single submitter
- p.Phe344= Single submitter
- p.Phe531= Single submitter
- p.Phe559Leu Single submitter
- p.Pro11= Single submitter
- p.Pro370= Single submitter
- p.Pro50= Single submitter
- p.Pro52= Single submitter
- p.Pro53= Single submitter
- p.Pro53Arg Single submitter
- p.Pro56= Single submitter
- p.Pro58Leu Single submitter
- p.Pro66= Single submitter
- p.Pro69= Single submitter
- p.Ser271= Single submitter
- p.Ser300= Single submitter
- p.Ser35= Single submitter
- p.Ser558= Single submitter
- p.Ser97Thr Single submitter
- p.Thr151= Single submitter
- p.Thr515= Single submitter
- p.Thr55Ala Single submitter
- p.Thr5Ala Single submitter
- p.Tyr130= Single submitter
- p.Tyr177= Single submitter
- p.Tyr328= Single submitter
- p.Tyr396= Single submitter
- p.Val209= Single submitter
- p.Val252= Single submitter
- p.Val352= Single submitter
- p.Val36= Single submitter
- p.Val361= Single submitter
- p.Val381= Single submitter
- p.Val410= Single submitter
- p.Val509= Single submitter
- p.Val70= Single submitter
- p.Val98= Single submitter
- c.1036-27C>T No assertion criteria hereditary neoplastic syndrome
- c.371+1744G>T No assertion criteria hereditary neoplastic syndrome
- c.-10T>C No assertion criteria GALNT12-related disorder
- c.-9G>A No assertion criteria GALNT12-related disorder
Uncertain significance 1143
Showing the top 300 by review status; the full set is in the sitemap.
- c.1036-3C>T Multiple submitters
- c.1212+1G>T Multiple submitters
- c.1213-3C>T Multiple submitters
- c.1344+4A>C Multiple submitters
- c.1459-15_1459-1dup Multiple submitters GALNT12-related disorder
- c.732-4_771dup Multiple submitters
- c.732-5T>G Multiple submitters
- c.876_917+174del Multiple submitters
- c.918-2A>C Multiple submitters colorectal cancer, susceptibility to, 1
- p.42GA[4] Multiple submitters
- p.Ala148Ser Multiple submitters colorectal cancer, susceptibility to, 1
- p.Ala148Val Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Ala188Val Multiple submitters ⚠
- p.Ala20_Leu22dup Multiple submitters colorectal cancer, susceptibility to, 1
- p.Ala202Thr Multiple submitters ⚠
- p.Ala211Thr Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Ala216Thr Multiple submitters
- p.Ala219Val Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Ala29Glu Multiple submitters ⚠
- p.Ala29Gly Multiple submitters ⚠
- p.Ala29Thr Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Ala29Val Multiple submitters ⚠
- p.Ala311Val Multiple submitters ⚠
- p.Ala316Val Multiple submitters ⚠
- p.Ala369Ser Multiple submitters ⚠
- p.Ala376Ser Multiple submitters ⚠
- p.Ala378Ser Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Ala378Val Multiple submitters ⚠
- p.Ala384Val Multiple submitters ⚠
- p.Ala45fs Multiple submitters
- p.Ala45Thr Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Ala47Asp Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Ala47Ser Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Ala48Thr Multiple submitters ⚠
- p.Ala508Thr Multiple submitters ⚠
- p.Ala508Val Multiple submitters ⚠
- p.Ala511Thr Multiple submitters ⚠
- p.Ala511Val Multiple submitters ⚠
- p.Ala72Ser Multiple submitters ⚠
- p.Ala77_Gly79dup Multiple submitters colorectal cancer, susceptibility to, 1
- p.Arg110Cys Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Arg110Leu Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Arg116del Multiple submitters colorectal cancer, susceptibility to, 1
- p.Arg116Leu Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Arg137Lys Multiple submitters ⚠
- p.Arg154Gln Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Arg154Trp Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Arg15Leu Multiple submitters ⚠
- p.Arg180Gly Multiple submitters ⚠
- p.Arg186Cys Multiple submitters ⚠
- p.Arg186Gly Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Arg186His Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Arg18fs Multiple submitters
- p.Arg18Gln Multiple submitters ⚠
- p.Arg18Gly Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Arg18Trp Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Arg198His Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Arg201Cys Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Arg201Gly Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Arg201His Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Arg205Ter Multiple submitters
- p.Arg210fs Multiple submitters
- p.Arg210Gln Multiple submitters colorectal cancer, susceptibility to, 1
- p.Arg210Pro Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Arg212Gln Multiple submitters ⚠
- p.Arg212Trp Multiple submitters ⚠
- p.Arg282Lys Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Arg295Gly Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Arg295Lys Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Arg297Gln Multiple submitters hereditary neoplastic syndrome ⚠
- p.Arg345= Multiple submitters
- p.Arg345Ser Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Arg373Cys Multiple submitters ⚠
- p.Arg373His Multiple submitters colorectal cancer, susceptibility to, 1
- p.Arg373Leu Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Arg382Cys Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Arg382His Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Arg38Trp Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Arg398Cys Multiple submitters ⚠
- p.Arg398His Multiple submitters
- p.Arg401Cys Multiple submitters ⚠
- p.Arg403Cys Multiple submitters
- p.Arg403His Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Arg413Lys Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Arg417Gln Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Arg417Leu Multiple submitters ⚠
- p.Arg417Trp Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Arg497Cys Multiple submitters colorectal cancer, susceptibility to, 1
- p.Arg497Gly Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Arg497His Multiple submitters ⚠
- p.Arg497Leu Multiple submitters ⚠
- p.Arg4fs Multiple submitters colorectal cancer, susceptibility to, 1
- p.Arg4His Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Arg564Ter Multiple submitters
- p.Arg579Cys Multiple submitters ⚠
- p.Arg579Pro Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Arg60Gly Multiple submitters ⚠
- p.Arg60Trp Multiple submitters ⚠
- p.Arg61His Multiple submitters ⚠
- p.Arg67Trp Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Arg7Gly Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Arg7Trp Multiple submitters ⚠
- p.Arg8Pro Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Arg8Trp Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Arg9Cys Multiple submitters ⚠
- p.Asn122Ser Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Asn189Asp Multiple submitters ⚠
- p.Asn270Ser Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Asn339Lys Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Asn462Lys Multiple submitters ⚠
- p.Asn528Ser Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Asn568Lys Multiple submitters hereditary neoplastic syndrome ⚠
- p.Asn568Ser Multiple submitters ⚠
- p.Asp109Tyr Multiple submitters ⚠
- p.Asp133Gly Multiple submitters ⚠
- p.Asp176Glu Multiple submitters ⚠
- p.Asp176Val Multiple submitters ⚠
- p.Asp179Asn Multiple submitters ⚠
- p.Asp222Gly Multiple submitters ⚠
- p.Asp261His Multiple submitters
- p.Asp280Asn Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Asp280Gly Multiple submitters ⚠
- p.Asp280Tyr Multiple submitters ⚠
- p.Asp329Asn Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Asp409Val Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Asp424His Multiple submitters ⚠
- p.Asp456Asn Multiple submitters ⚠
- p.Asp456Glu Multiple submitters ⚠
- p.Asp514Asn Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Asp514Val Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Asp536Asn Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Asp536Val Multiple submitters
- p.Cys229Ser Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Cys231Arg Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Cys254Arg Multiple submitters ⚠
- p.Cys349Tyr Multiple submitters ⚠
- p.Cys358Gly Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Cys358Phe Multiple submitters ⚠
- p.Cys358Tyr Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Cys422Phe Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Cys506Tyr Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Cys547Ser Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Gln275His Multiple submitters ⚠
- p.Gln299fs Multiple submitters
- p.Gln299Ter Multiple submitters colorectal cancer, susceptibility to, 1
- p.Gln40Pro Multiple submitters ⚠
- p.Gln421His Multiple submitters ⚠
- p.Gln473Ter Multiple submitters colorectal cancer, susceptibility to, 1
- p.Gln85_Leu91del Multiple submitters colorectal cancer, susceptibility to, 1
- p.Gln85Arg Multiple submitters ⚠
- p.Gln94Arg Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Glu170Asp Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Glu170del Multiple submitters colorectal cancer, susceptibility to, 1
- p.Glu206Asp Multiple submitters ⚠
- p.Glu235Gly Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Glu235Lys Multiple submitters ⚠
- p.Glu239Gln Multiple submitters colorectal cancer, susceptibility to, 1
- p.Glu249Lys Multiple submitters ⚠
- p.Glu266Gly Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Glu266Lys Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Glu292fs Multiple submitters
- p.Glu341Lys Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Glu489Gln Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Glu489Lys Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Glu522Ter Multiple submitters colorectal cancer, susceptibility to, 1
- p.Glu535Asp Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Glu542Gln Multiple submitters ⚠
- p.Glu542Lys Multiple submitters ⚠
- p.Glu542Ter Multiple submitters colorectal cancer, susceptibility to, 1
- p.Glu554Lys Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Glu578Asp Multiple submitters ⚠
- p.Glu89Gly Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Glu89Lys Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Glu89Ter Multiple submitters colorectal cancer, susceptibility to, 1
- p.Glu90Lys Multiple submitters ⚠
- p.Glu95Lys Multiple submitters ⚠
- p.Glu96del Multiple submitters
- p.Gly193Ala Multiple submitters ⚠
- p.Gly221Ala Multiple submitters colorectal cancer, susceptibility to, 1
- p.Gly236Arg Multiple submitters ⚠
- p.Gly278Ser Multiple submitters colorectal cancer, susceptibility to, 1
- p.Gly313Glu Multiple submitters ⚠
- p.Gly32Glu Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Gly32Trp Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Gly350Arg Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Gly350Asp Multiple submitters ⚠
- p.Gly351Val Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Gly362Ser Multiple submitters ⚠
- p.Gly3Glu Multiple submitters ⚠
- p.Gly46_Ala47insSerGly Multiple submitters
- p.Gly46Glu Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Gly481Glu Multiple submitters
- p.Gly483Ser Multiple submitters
- p.Gly537Val Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Gly59Arg Multiple submitters ⚠
- p.Gly76Arg Multiple submitters ⚠
- p.Gly76Ser Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Gly79Asp Multiple submitters ⚠
- p.Gly88Val Multiple submitters ⚠
- p.His101Tyr Multiple submitters ⚠
- p.His182Arg Multiple submitters colorectal cancer, susceptibility to, 1
- p.His182Tyr Multiple submitters ⚠
- p.His234Gln Multiple submitters colorectal cancer, susceptibility to, 1
- p.His356Tyr Multiple submitters colorectal cancer, susceptibility to, 1
- p.His363Asp Multiple submitters ⚠
- p.His363Tyr Multiple submitters hereditary neoplastic syndrome ⚠
- p.His437Arg Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.His437Tyr Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.His501Tyr Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.His519Arg Multiple submitters ⚠
- p.His571Arg Multiple submitters ⚠
- p.Ile105Asn Multiple submitters ⚠
- p.Ile105Phe Multiple submitters ⚠
- p.Ile111Phe Multiple submitters ⚠
- p.Ile142Thr Multiple submitters ⚠
- p.Ile142Val Multiple submitters ⚠
- p.Ile260Met Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Ile305Thr Multiple submitters ⚠
- p.Ile469Thr Multiple submitters ⚠
- p.Ile507Thr Multiple submitters ⚠
- p.Ile517del Multiple submitters
- p.Ile532Phe Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Leu107Phe Multiple submitters ⚠
- p.Leu113Pro Multiple submitters ⚠
- p.Leu135Ter Multiple submitters
- p.Leu152Phe Multiple submitters ⚠
- p.Leu152Val Multiple submitters ⚠
- p.Leu187Phe Multiple submitters ⚠
- p.Leu191Val Multiple submitters ⚠
- p.Leu194Val Multiple submitters ⚠
- p.Leu227Gln Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Leu22Phe Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Leu22Ser Multiple submitters ⚠
- p.Leu238Pro Multiple submitters ⚠
- p.Leu268Val Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Leu27Pro Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Leu340Arg Multiple submitters ⚠
- p.Leu436Val Multiple submitters ⚠
- p.Leu476Val Multiple submitters ⚠
- p.Leu516Ile Multiple submitters ⚠
- p.Leu562Arg Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Leu75Arg Multiple submitters ⚠
- p.Leu84Pro Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Leu86_Gln94dup Multiple submitters
- p.Leu91Val Multiple submitters ⚠
- p.Lys184Gln Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Lys196Arg Multiple submitters ⚠
- p.Lys204Arg Multiple submitters ⚠
- p.Lys204fs Multiple submitters colorectal cancer, susceptibility to, 1
- p.Lys546Arg Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Lys553Glu Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Met1Ile Multiple submitters colorectal cancer, susceptibility to, 1
- p.Met1Val Multiple submitters
- p.Met310Val Multiple submitters ⚠
- p.Met332Thr Multiple submitters ⚠
- p.Met388Ile Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Met448Leu Multiple submitters ⚠
- p.Met482Ile Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Met518Arg Multiple submitters ⚠
- p.Met518Ile Multiple submitters ⚠
- p.Met518Thr Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Met518Val Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Met580Ile Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Met580Thr Multiple submitters ⚠
- p.Met580Val Multiple submitters ⚠
- p.Phe144Leu Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Phe265Leu Multiple submitters ⚠
- p.Phe279Leu Multiple submitters ⚠
- p.Phe279Val Multiple submitters ⚠
- p.Phe344Cys Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Phe446Leu Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Phe488Cys Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Pro11Leu Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Pro123Arg Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Pro164Gln Multiple submitters ⚠
- p.Pro164Leu Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Pro195Ser Multiple submitters ⚠
- p.Pro255Arg Multiple submitters ⚠
- p.Pro255Leu Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Pro274Ser Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Pro291Ser Multiple submitters
- p.Pro301Ser Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Pro308Leu Multiple submitters ⚠
- p.Pro366Leu Multiple submitters ⚠
- p.Pro370Ser Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Pro400Thr Multiple submitters ⚠
- p.Pro406Leu Multiple submitters ⚠
- p.Pro406Thr Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Pro434Thr Multiple submitters ⚠
- p.Pro443Leu Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Pro463Ala Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Pro503His Multiple submitters ⚠
- p.Pro526Ala Multiple submitters ⚠
- p.Pro526Ser Multiple submitters ⚠
- p.Pro52Leu Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Pro52Thr Multiple submitters colorectal cancer, susceptibility to, 1 ⚠
- p.Pro56_Pro58dup Multiple submitters colorectal cancer, susceptibility to, 1
- p.Pro561Leu Multiple submitters ⚠
- p.Pro56Leu Multiple submitters ⚠
- p.Pro63Gln Multiple submitters ⚠