ABL1 — 858 ClinVar variants
All ClinVar germline ABL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 363 flagged for review →
10 Pathogenic · 5 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 35 Conflicting · 103 Benign · 22 Benign/Likely benign · 388 Likely benign · 285 Uncertain significance
Full ABL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 363
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 2
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
ABL1 p.Pro784Leu
Likely pathogenic
Single submitter
congenital heart defects and skeletal malformations syndrome
- ABL1 p.Tyr342Cys Likely pathogenic Single submitter
Predictors agree, ClinVar conflicts 23
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
ABL1 p.Ala1023Thr
Conflicting
Single submitter
ABL1-related disorder
-
ABL1 p.Arg191Cys
Conflicting
Single submitter
Inborn genetic diseases
-
ABL1 p.Arg577Gln
Conflicting
Single submitter
Inborn genetic diseases
-
ABL1 p.Arg674Gln
Conflicting
Single submitter
Inborn genetic diseases
-
ABL1 p.Arg715His
Conflicting
Single submitter
Inborn genetic diseases
-
ABL1 p.Arg819Gln
Conflicting
Single submitter
chronic myeloid leukemia
-
ABL1 p.Asn331Asp
Conflicting
Single submitter
congenital heart defects and skeletal malformations syndrome
-
ABL1 p.Asn812Lys
Conflicting
Single submitter
Inborn genetic diseases
-
ABL1 p.Asn812Thr
Conflicting
Single submitter
Inborn genetic diseases
-
ABL1 p.Asp739Asn
Conflicting
Single submitter
Inborn genetic diseases
-
ABL1 p.Gln1076His
Conflicting
Single submitter
Inborn genetic diseases
- ABL1 p.Glu197Lys Conflicting Single submitter
-
ABL1 p.His1053Tyr
Conflicting
Single submitter
Inborn genetic diseases
-
ABL1 p.Lys867Arg
Conflicting
Single submitter
Inborn genetic diseases
- ABL1 p.Pro1018Leu Conflicting Single submitter
-
ABL1 p.Pro548Thr
Conflicting
Single submitter
Inborn genetic diseases
-
ABL1 p.Pro566Thr
Conflicting
Single submitter
Inborn genetic diseases
- ABL1 p.Pro723Ser Conflicting Single submitter
- ABL1 p.Pro784Ala Conflicting Single submitter
- ABL1 p.Pro806Leu Conflicting Single submitter
-
ABL1 p.Pro831Leu
Conflicting
Single submitter
Inborn genetic diseases
-
ABL1 p.Pro975Leu
Conflicting
Single submitter
Inborn genetic diseases
-
ABL1 p.Thr117Met
Conflicting
Single submitter
congenital heart defects and skeletal malformations syndrome
Predictors lean, ClinVar uncertain 176
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 176
-
ABL1 p.Ala1001Val
Uncertain significance
Multiple submitters
ABL1-related disorder
-
ABL1 p.Ala767Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABL1 p.Arg771Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABL1 p.Asn414Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ABL1 p.Asp421Asn Uncertain significance Multiple submitters
-
ABL1 p.Glu123Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ABL1 p.Gly626Asp Uncertain significance Multiple submitters
-
ABL1 p.Gly677Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABL1 p.Pro784Arg
Uncertain significance
Multiple submitters
congenital heart defects and skeletal malformations syndrome
-
ABL1 p.Ser998Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABL1 p.Thr104Ser
Uncertain significance
Multiple submitters
congenital heart defects and skeletal malformations syndrome
-
ABL1 p.Ala1026Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABL1 p.Ala1109Val
Uncertain significance
Single submitter
cardiomyopathy
- ABL1 p.Ala366Ser Uncertain significance Single submitter
-
ABL1 p.Ala397Val
Uncertain significance
Single submitter
congenital heart defects and skeletal malformations syndrome
- ABL1 p.Ala46Thr Uncertain significance Single submitter
- ABL1 p.Ala567Val Uncertain significance Single submitter
- ABL1 p.Ala633Thr Uncertain significance Single submitter
- ABL1 p.Ala767Glu Uncertain significance Single submitter
- ABL1 p.Ala904Thr Uncertain significance Single submitter
- ABL1 p.Ala905Thr Uncertain significance Single submitter
- ABL1 p.Ala926Glu Uncertain significance Single submitter
-
ABL1 p.Ala940Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- ABL1 p.Ala940Ser Uncertain significance Single submitter
-
ABL1 p.Ala962Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABL1 p.Arg1016His
Uncertain significance
Single submitter
Inborn genetic diseases
- ABL1 p.Arg152His Uncertain significance Single submitter
-
ABL1 p.Arg191Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- ABL1 p.Arg239Cys Uncertain significance Single submitter
-
ABL1 p.Arg239His
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABL1 p.Arg307Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- ABL1 p.Arg307Trp Uncertain significance Single submitter
-
ABL1 p.Arg31Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- ABL1 p.Arg457Cys Uncertain significance Single submitter
-
ABL1 p.Arg457Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABL1 p.Arg460Ser
Uncertain significance
Single submitter
congenital heart defects and skeletal malformations syndrome
- ABL1 p.Arg47Cys Uncertain significance Single submitter
- ABL1 p.Arg483Trp Uncertain significance Single submitter
-
ABL1 p.Arg516His
Uncertain significance
Single submitter
Inborn genetic diseases
- ABL1 p.Arg574Gly Uncertain significance Single submitter
- ABL1 p.Arg617His Uncertain significance Single submitter
- ABL1 p.Arg639Gln Uncertain significance Single submitter
- ABL1 p.Arg639Pro Uncertain significance Single submitter
- ABL1 p.Arg764Leu Uncertain significance Single submitter
- ABL1 p.Arg766Thr Uncertain significance Single submitter
- ABL1 p.Arg771Ser Uncertain significance Single submitter
- ABL1 p.Arg89Trp Uncertain significance Single submitter
- ABL1 p.Asn1046Asp Uncertain significance Single submitter
-
ABL1 p.Asn106Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- ABL1 p.Asn120Thr Uncertain significance Single submitter
- ABL1 p.Asn135Asp Uncertain significance Single submitter
-
ABL1 p.Asn146His
Uncertain significance
Single submitter
Inborn genetic diseases
- ABL1 p.Asn146Ser Uncertain significance Single submitter
- ABL1 p.Asn358Thr Uncertain significance Single submitter
- ABL1 p.Asp1034Ala Uncertain significance Single submitter
- ABL1 p.Asp1126Tyr Uncertain significance Single submitter
- ABL1 p.Asp207Asn Uncertain significance Single submitter
- ABL1 p.Asp543His Uncertain significance Single submitter
-
ABL1 p.Asp546His
Uncertain significance
Single submitter
Inborn genetic diseases
- ABL1 p.Asp587Ala Uncertain significance Single submitter
-
ABL1 p.Asp640Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- ABL1 p.Asp800Gly Uncertain significance Single submitter
- ABL1 p.Asp944Gly Uncertain significance Single submitter
- ABL1 p.Gln1017His Uncertain significance Single submitter
-
ABL1 p.Gln477Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABL1 p.Gln524Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- ABL1 p.Gln741Pro Uncertain significance Single submitter
-
ABL1 p.Gln774Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABL1 p.Glu101Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- ABL1 p.Glu1020Gln Uncertain significance Single submitter
-
ABL1 p.Glu1037Gln
Uncertain significance
Single submitter
congenital heart defects and skeletal malformations syndrome
- ABL1 p.Glu1037Lys Uncertain significance Single submitter
- ABL1 p.Glu153Gln Uncertain significance Single submitter
- ABL1 p.Glu197Gly Uncertain significance Single submitter
- ABL1 p.Glu258Lys Uncertain significance Single submitter
- ABL1 p.Glu292Gln Uncertain significance Single submitter
- ABL1 p.Glu450Asp Uncertain significance Single submitter
- ABL1 p.Glu462Gln Uncertain significance Single submitter
-
ABL1 p.Glu505Lys
Uncertain significance
Single submitter
congenital heart defects and skeletal malformations syndrome
- ABL1 p.Glu527Gly Uncertain significance Single submitter
-
ABL1 p.Glu576Gln
Uncertain significance
Single submitter
chronic myeloid leukemia
-
ABL1 p.Glu675Asp
Uncertain significance
Single submitter
ABL1-related disorder
-
ABL1 p.Glu791Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- ABL1 p.Glu883Gly Uncertain significance Single submitter
- ABL1 p.Gly1105Arg Uncertain significance Single submitter
- ABL1 p.Gly147Ser Uncertain significance Single submitter
-
ABL1 p.Gly511Arg
Uncertain significance
Single submitter
congenital heart defects and skeletal malformations syndrome
-
ABL1 p.Gly517Glu
Uncertain significance
Single submitter
ABL1-related disorder
- ABL1 p.Gly632Arg Uncertain significance Single submitter
- ABL1 p.Gly678Ser Uncertain significance Single submitter
- ABL1 p.Gly725Glu Uncertain significance Single submitter
-
ABL1 p.Gly829Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- ABL1 p.Gly839Asp Uncertain significance Single submitter
- ABL1 p.Gly839Ser Uncertain significance Single submitter
- ABL1 p.Gly858Ser Uncertain significance Single submitter
- ABL1 p.Gly860Asp Uncertain significance Single submitter
- ABL1 p.Gly863Glu Uncertain significance Single submitter
- ABL1 p.Gly868Ser Uncertain significance Single submitter
- ABL1 p.Gly952Glu Uncertain significance Single submitter
- ABL1 p.His129Arg Uncertain significance Single submitter
- ABL1 p.His564Arg Uncertain significance Single submitter
-
ABL1 p.His880Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- ABL1 p.Ile1027Val Uncertain significance Single submitter
- ABL1 p.Ile1099Met Uncertain significance Single submitter
- ABL1 p.Ile418Val Uncertain significance Single submitter
- ABL1 p.Ile443Met Uncertain significance Single submitter
-
ABL1 p.Ile502Met
Uncertain significance
Single submitter
congenital heart defects and skeletal malformations syndrome
-
ABL1 p.Ile502Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- ABL1 p.Ile604Met Uncertain significance Single submitter
- ABL1 p.Leu1005Val Uncertain significance Single submitter
- ABL1 p.Leu1033Pro Uncertain significance Single submitter
- ABL1 p.Leu786Pro Uncertain significance Single submitter
-
ABL1 p.Lys294Asn
Uncertain significance
Single submitter
ABL1-related congenital heart defects and skeletal malformations syndrome
- ABL1 p.Lys356Arg Uncertain significance Single submitter
- ABL1 p.Lys415Thr Uncertain significance Single submitter
-
ABL1 p.Lys593Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABL1 p.Lys616Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- ABL1 p.Lys658Asn Uncertain significance Single submitter
- ABL1 p.Lys896Thr Uncertain significance Single submitter
- ABL1 p.Lys933Asn Uncertain significance Single submitter
- ABL1 p.Met1050Leu Uncertain significance Single submitter
-
ABL1 p.Met1050Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- ABL1 p.Met437Thr Uncertain significance Single submitter
- ABL1 p.Met802Thr Uncertain significance Single submitter
- ABL1 p.Phe37Leu Uncertain significance Single submitter
- ABL1 p.Phe37Val Uncertain significance Single submitter
- ABL1 p.Phe752Cys Uncertain significance Single submitter
- ABL1 p.Pro158Arg Uncertain significance Single submitter
- ABL1 p.Pro158Leu Uncertain significance Single submitter
- ABL1 p.Pro39Arg Uncertain significance Single submitter
- ABL1 p.Pro461Thr Uncertain significance Single submitter
- ABL1 p.Pro548Arg Uncertain significance Single submitter
-
ABL1 p.Pro551His
Uncertain significance
Single submitter
congenital heart disease
- ABL1 p.Pro561Ala Uncertain significance Single submitter
- ABL1 p.Pro579Leu Uncertain significance Single submitter
- ABL1 p.Pro63Leu Uncertain significance Single submitter
-
ABL1 p.Pro966Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- ABL1 p.Pro975Ser Uncertain significance Single submitter
- ABL1 p.Ser1052Arg Uncertain significance Single submitter
- ABL1 p.Ser1069Gly Uncertain significance Single submitter
- ABL1 p.Ser180Phe Uncertain significance Single submitter
- ABL1 p.Ser503Pro Uncertain significance Single submitter
- ABL1 p.Ser75Gly Uncertain significance Single submitter
- ABL1 p.Ser828Leu Uncertain significance Single submitter
-
ABL1 p.Ser859Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABL1 p.Ser866Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- ABL1 p.Ser873Thr Uncertain significance Single submitter
-
ABL1 p.Ser906Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABL1 p.Ser972Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABL1 p.Ser990Thr
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 162
The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 162
-
ABL1 p.Ala1042Thr
Likely benign
Multiple submitters
Inborn genetic diseases
-
ABL1 p.Ala337Thr
Pathogenic
Multiple submitters
congenital heart disease
-
ABL1 p.Ala969Asp
Benign/Likely benign
Multiple submitters
Inborn genetic diseases
- ABL1 p.Arg1016Leu Uncertain significance Multiple submitters
- ABL1 p.Arg460His Uncertain significance Multiple submitters
-
ABL1 p.Arg473Gln
Benign/Likely benign
Multiple submitters
Inborn genetic diseases
-
ABL1 p.Arg516Cys
Likely benign
Multiple submitters
Inborn genetic diseases
-
ABL1 p.Arg630Cys
Benign/Likely benign
Multiple submitters
Inborn genetic diseases
-
ABL1 p.Asn1088His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABL1 p.Glu373Asp
Likely benign
Multiple submitters
Inborn genetic diseases
-
ABL1 p.Gly706Val
Likely benign
Multiple submitters
chronic myeloid leukemia
- ABL1 p.Ile1043Val Benign/Likely benign Multiple submitters
- ABL1 p.Pro899Leu Benign/Likely benign Multiple submitters
- ABL1 p.Ser43Asn Benign Multiple submitters
-
ABL1 p.Ser855Cys
Likely benign
Multiple submitters
Inborn genetic diseases
-
ABL1 p.Thr743Met
Likely benign
Multiple submitters
Inborn genetic diseases
-
ABL1 p.Tyr320Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABL1 p.Val225Ala
Uncertain significance
Multiple submitters
congenital heart defects and skeletal malformations syndrome
-
ABL1 p.Val422Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABL1 p.Val547Met
Likely benign
Multiple submitters
Inborn genetic diseases
-
ABL1 p.Val938Ile
Uncertain significance
Multiple submitters
ABL1-related disorder
-
ABL1 p.Val959Met
Benign/Likely benign
Multiple submitters
Inborn genetic diseases
- ABL1 p.Ala1038Val Likely benign Single submitter
- ABL1 p.Ala1055Thr Likely benign Single submitter
- ABL1 p.Ala1086Thr Likely benign Single submitter
- ABL1 p.Ala1102Val Likely benign Single submitter
- ABL1 p.Ala288Thr Uncertain significance Single submitter
-
ABL1 p.Ala666Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- ABL1 p.Ala922Val Likely benign Single submitter
- ABL1 p.Arg1016Cys Uncertain significance Single submitter
- ABL1 p.Arg1021Trp Uncertain significance Single submitter
- ABL1 p.Arg220His Benign Single submitter
- ABL1 p.Arg332Gln Benign Single submitter
- ABL1 p.Arg473Gly Likely benign Single submitter
- ABL1 p.Arg47His Benign Single submitter
-
ABL1 p.Arg589Cys
Conflicting
Single submitter
Inborn genetic diseases
- ABL1 p.Arg617Cys Likely benign Single submitter
- ABL1 p.Arg622Gln Likely benign Single submitter
- ABL1 p.Arg622Trp Likely benign Single submitter
- ABL1 p.Arg630His Likely benign Single submitter
- ABL1 p.Arg674Trp Benign Single submitter
- ABL1 p.Arg682Gln Likely benign Single submitter
- ABL1 p.Arg697Cys Likely benign Single submitter
- ABL1 p.Arg715Cys Likely benign Single submitter
-
ABL1 p.Arg738Gln
Likely benign
Single submitter
Inborn genetic diseases
-
ABL1 p.Arg738Trp
Conflicting
Single submitter
Inborn genetic diseases
- ABL1 p.Arg764Trp Benign Single submitter
- ABL1 p.Arg785Ser Uncertain significance Single submitter
-
ABL1 p.Arg819Trp
Conflicting
Single submitter
Inborn genetic diseases
-
ABL1 p.Arg820Gln
Conflicting
Single submitter
Inborn genetic diseases
- ABL1 p.Arg820Trp Likely benign Single submitter
-
ABL1 p.Arg876Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABL1 p.Arg894Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- ABL1 p.Asn1046Lys Likely benign Single submitter
- ABL1 p.Asn177Ser Uncertain significance Single submitter
-
ABL1 p.Asn331Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABL1 p.Asn331Ser
Conflicting
Single submitter
congenital heart defects and skeletal malformations syndrome
- ABL1 p.Asn331Thr Likely benign Single submitter
- ABL1 p.Asn94His Uncertain significance Single submitter
- ABL1 p.Asn94Lys Likely benign Single submitter
- ABL1 p.Asp504Asn Uncertain significance Single submitter
-
ABL1 p.Asp504Gly
Likely pathogenic
Single submitter
congenital heart defects and skeletal malformations syndrome
-
ABL1 p.Glu329Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABL1 p.Glu334Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- ABL1 p.Glu702Val Uncertain significance Single submitter
- ABL1 p.Glu871Gln Uncertain significance Single submitter
-
ABL1 p.Glu872Lys
Uncertain significance
Single submitter
ABL1-related disorder
- ABL1 p.Gly1060Ser Likely benign Single submitter
- ABL1 p.Gly182Ser Uncertain significance Single submitter
- ABL1 p.Gly57Arg Uncertain significance Single submitter
- ABL1 p.Gly638Cys Likely benign Single submitter
- ABL1 p.Gly644Arg Uncertain significance Single submitter
-
ABL1 p.Gly665Trp
Likely benign
Single submitter
Inborn genetic diseases
- ABL1 p.Gly671Glu Likely benign Single submitter
- ABL1 p.Gly671Val Benign Single submitter
- ABL1 p.Gly678Asp Likely benign Single submitter
-
ABL1 p.Gly701Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- ABL1 p.Gly890Arg Likely benign Single submitter
- ABL1 p.His125Gln Uncertain significance Single submitter
-
ABL1 p.Ile1006Thr
Conflicting
Single submitter
Inborn genetic diseases
- ABL1 p.Ile1043Leu Uncertain significance Single submitter
- ABL1 p.Ile293Phe Uncertain significance Single submitter
- ABL1 p.Ile82Leu Uncertain significance Single submitter
-
ABL1 p.Leu1063Phe
Conflicting
Single submitter
Inborn genetic diseases
- ABL1 p.Leu184Phe Uncertain significance Single submitter
- ABL1 p.Leu651Trp Likely benign Single submitter
-
ABL1 p.Leu740Phe
Uncertain significance
Single submitter
ABL1-related disorder
- ABL1 p.Leu895Phe Uncertain significance Single submitter
- ABL1 p.Lys596Asn Uncertain significance Single submitter
-
ABL1 p.Lys605Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- ABL1 p.Lys616Asn Uncertain significance Single submitter
- ABL1 p.Lys816Glu Uncertain significance Single submitter
-
ABL1 p.Lys909Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- ABL1 p.Met343Val Uncertain significance Single submitter
- ABL1 p.Phe1114Leu Likely benign Single submitter
- ABL1 p.Phe747Leu Benign Single submitter
- ABL1 p.Phe752Leu Uncertain significance Single submitter
- ABL1 p.Pro760Gln Uncertain significance Single submitter
- ABL1 p.Pro760Leu Likely benign Single submitter
-
ABL1 p.Pro845Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- ABL1 p.Pro897His Likely benign Single submitter
- ABL1 p.Pro897Ser Likely benign Single submitter
- ABL1 p.Pro899Ser Likely benign Single submitter
- ABL1 p.Pro900Leu Likely benign Single submitter
- ABL1 p.Pro900Ser Benign Single submitter
- ABL1 p.Pro951Leu Likely benign Single submitter
- ABL1 p.Pro958Leu Uncertain significance Single submitter
- ABL1 p.Pro961Leu Benign Single submitter
-
ABL1 p.Pro978Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- ABL1 p.Pro978Leu Uncertain significance Single submitter
- ABL1 p.Ser1011Pro Uncertain significance Single submitter
- ABL1 p.Ser1052Thr Uncertain significance Single submitter
-
ABL1 p.Ser1106Cys
Likely benign
Single submitter
Inborn genetic diseases
-
ABL1 p.Ser1120Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- ABL1 p.Ser190Arg Uncertain significance Single submitter
- ABL1 p.Ser535Phe Uncertain significance Single submitter
-
ABL1 p.Ser553Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- ABL1 p.Ser772Cys Benign Single submitter
-
ABL1 p.Ser840Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- ABL1 p.Ser855Asn Uncertain significance Single submitter
- ABL1 p.Ser884Leu Likely benign Single submitter
- ABL1 p.Ser917Asn Uncertain significance Single submitter
-
ABL1 p.Ser919Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- ABL1 p.Ser936Asn Likely benign Single submitter
- ABL1 p.Ser977Arg Likely benign Single submitter
- ABL1 p.Ser977Asn Likely benign Single submitter
- ABL1 p.Ser977Gly Uncertain significance Single submitter
- ABL1 p.Ser990Leu Likely benign Single submitter
- ABL1 p.Thr204Ala Likely benign Single submitter
-
ABL1 p.Thr212Met
Uncertain significance
Single submitter
congenital heart defects and skeletal malformations syndrome
- ABL1 p.Thr267Met Uncertain significance Single submitter
- ABL1 p.Thr521Ile Uncertain significance Single submitter
-
ABL1 p.Thr532Met
Uncertain significance
Single submitter
Inborn genetic diseases
- ABL1 p.Thr653Ile Likely benign Single submitter
- ABL1 p.Thr692Met Likely benign Single submitter
- ABL1 p.Thr692Pro Uncertain significance Single submitter
-
ABL1 p.Thr694Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- ABL1 p.Thr729Met Likely benign Single submitter
-
ABL1 p.Thr735Met
Conflicting
Single submitter
cleft palate
- ABL1 p.Thr751Ile Likely benign Single submitter
- ABL1 p.Thr781Met Likely benign Single submitter
- ABL1 p.Thr844Asn Uncertain significance Single submitter
- ABL1 p.Thr935Met Likely benign Single submitter
- ABL1 p.Thr974Ile Benign Single submitter
-
ABL1 p.Trp48Ser
Likely pathogenic
Single submitter
congenital heart defects and skeletal malformations syndrome
- ABL1 p.Tyr215Phe Uncertain significance Single submitter
- ABL1 p.Tyr413Phe Uncertain significance Single submitter
-
ABL1 p.Val1068Met
Conflicting
Single submitter
Inborn genetic diseases
- ABL1 p.Val186Ile Uncertain significance Single submitter
- ABL1 p.Val199Ile Uncertain significance Single submitter
All ABL1 variants
Pathogenic 10
- p.Ala337Thr Multiple submitters congenital heart disease ⚠
- p.Gly463Asp Single submitter congenital heart defects and skeletal malformations syndrome
- p.Met244Val Single submitter
- p.Glu236Lys No assertion criteria Leukemia, Philadelphia chromosome-positive, resistant to imatinib
- p.Glu236Val No assertion criteria Leukemia, Philadelphia chromosome-positive, resistant to imatinib
- p.Glu255Val No assertion criteria lip and oral cavity carcinoma
- p.His396Arg No assertion criteria lip and oral cavity carcinoma
- p.Met351Thr No assertion criteria chronic myeloid leukemia
- p.Phe311Leu No assertion criteria chronic myeloid leukemia
- p.Tyr253His No assertion criteria Leukemia, Philadelphia chromosome-positive, resistant to imatinib
Pathogenic/Likely pathogenic 5
- p.Glu509Lys Multiple submitters congenital heart defects and skeletal malformations syndrome
- p.Gly254Arg Multiple submitters congenital heart defects and skeletal malformations syndrome
- p.Tyr226Cys Multiple submitters congenital heart defects and skeletal malformations syndrome
- p.Val506Ala Multiple submitters microcephaly
- p.Val506Met Multiple submitters congenital heart defects and skeletal malformations syndrome
Likely pathogenic 10
- p.Ala433Thr Multiple submitters congenital heart defects and skeletal malformations syndrome
- p.Pro230Leu Multiple submitters congenital heart defects and skeletal malformations syndrome
- p.Trp99Arg Multiple submitters congenital heart defects and skeletal malformations syndrome
- p.Asp363Ala Single submitter congenital heart defects and skeletal malformations syndrome
- p.Asp504Gly Single submitter congenital heart defects and skeletal malformations syndrome ⚠
- p.Glu292Val Single submitter congenital heart defects and skeletal malformations syndrome
- p.Pro784Leu Single submitter congenital heart defects and skeletal malformations syndrome ⚠
- p.Trp48Ser Single submitter congenital heart defects and skeletal malformations syndrome ⚠
- p.Tyr342Cys Single submitter ⚠
- p.Glu98Ter No assertion criteria Moyamoya angiopathy
Conflicting classifications of pathogenicity 35
- p.Ala1023Thr Single submitter ABL1-related disorder ⚠
- p.Arg191Cys Single submitter Inborn genetic diseases ⚠
- p.Arg577Gln Single submitter Inborn genetic diseases ⚠
- p.Arg589Cys Single submitter Inborn genetic diseases ⚠
- p.Arg674Gln Single submitter Inborn genetic diseases ⚠
- p.Arg715His Single submitter Inborn genetic diseases ⚠
- p.Arg738Trp Single submitter Inborn genetic diseases ⚠
- p.Arg819Gln Single submitter chronic myeloid leukemia ⚠
- p.Arg819Trp Single submitter Inborn genetic diseases ⚠
- p.Arg820Gln Single submitter Inborn genetic diseases ⚠
- p.Asn331Asp Single submitter congenital heart defects and skeletal malformations syndrome ⚠
- p.Asn331Ser Single submitter congenital heart defects and skeletal malformations syndrome ⚠
- p.Asn812Lys Single submitter Inborn genetic diseases ⚠
- p.Asn812Thr Single submitter Inborn genetic diseases ⚠
- p.Asp739Asn Single submitter Inborn genetic diseases ⚠
- p.Gln1076His Single submitter Inborn genetic diseases ⚠
- p.Glu197Lys Single submitter ⚠
- p.His1053Tyr Single submitter Inborn genetic diseases ⚠
- p.Ile1006Thr Single submitter Inborn genetic diseases ⚠
- p.Leu1063Phe Single submitter Inborn genetic diseases ⚠
- p.Lys867Arg Single submitter Inborn genetic diseases ⚠
- p.Pro1018Leu Single submitter ⚠
- p.Pro548Thr Single submitter Inborn genetic diseases ⚠
- p.Pro566Thr Single submitter Inborn genetic diseases ⚠
- p.Pro723Ser Single submitter ⚠
- p.Pro784Ala Single submitter ⚠
- p.Pro806Leu Single submitter ⚠
- p.Pro831Leu Single submitter Inborn genetic diseases ⚠
- p.Pro975Leu Single submitter Inborn genetic diseases ⚠
- p.Thr117Met Single submitter congenital heart defects and skeletal malformations syndrome ⚠
- p.Thr735Met Single submitter cleft palate ⚠
- p.Val1068Met Single submitter Inborn genetic diseases ⚠
- p.Val515Ile Single submitter ⚠
- p.Val787Met Single submitter Inborn genetic diseases ⚠
- p.Val941Met Single submitter Inborn genetic diseases ⚠
Benign 103
- p.Glu499= Multiple submitters
- p.Glu623= Multiple submitters
- p.Pro1108= Multiple submitters
- p.Pro784= Multiple submitters
- p.Pro810Leu Multiple submitters
- p.Pro980= Multiple submitters
- p.Pro986= Multiple submitters
- p.Ser43Asn Multiple submitters ⚠
- p.Ser559= Multiple submitters
- p.Ser972= Multiple submitters
- p.Ser972Leu Multiple submitters
- p.Thr1000= Multiple submitters
- p.Thr240= Multiple submitters
- p.Thr729= Multiple submitters
- c.1678+14T>C Single submitter
- c.1679-11T>C Single submitter
- c.1679-3C>T Single submitter
- c.823-11dup Single submitter
- p.Ala1102= Single submitter
- p.Ala1109= Single submitter
- p.Ala136= Single submitter
- p.Ala137Ser Single submitter
- p.Ala645Thr Single submitter
- p.Ala647Asp Single submitter
- p.Ala794Val Single submitter
- p.Ala861Thr Single submitter
- p.Ala923Gly Single submitter
- p.Ala969Thr Single submitter
- p.Arg220His Single submitter ⚠
- p.Arg332Gln Single submitter ⚠
- p.Arg47His Single submitter ⚠
- p.Arg674Trp Single submitter ⚠
- p.Arg764Trp Single submitter ⚠
- p.Arg89= Single submitter
- p.Asn790= Single submitter
- p.Asp207= Single submitter
- p.Asp728Gly Single submitter
- p.Asp944= Single submitter
- p.Gln746Arg Single submitter
- p.Glu1058= Single submitter
- p.Glu281= Single submitter
- p.Glu558= Single submitter
- p.Gly1025= Single submitter
- p.Gly250= Single submitter
- p.Gly583Ser Single submitter
- p.Gly626Ser Single submitter
- p.Gly671= Single submitter
- p.Gly671Val Single submitter ⚠
- p.Gly929= Single submitter
- p.Gly952= Single submitter
- p.His1053= Single submitter
- p.His125= Single submitter
- p.Ile1022= Single submitter
- p.Ile1087Val Single submitter
- p.Leu1090= Single submitter
- p.Leu813= Single submitter
- p.Lys467= Single submitter
- p.Lys727Glu Single submitter
- p.Lys838= Single submitter
- p.Phe713= Single submitter
- p.Phe747Leu Single submitter ⚠
- p.Pro1101= Single submitter
- p.Pro480= Single submitter
- p.Pro810= Single submitter
- p.Pro869Ser Single submitter
- p.Pro899= Single submitter
- p.Pro900Ser Single submitter ⚠
- p.Pro961= Single submitter
- p.Pro961Leu Single submitter ⚠
- p.Pro975= Single submitter
- p.Pro997= Single submitter
- p.Ser1024= Single submitter
- p.Ser143= Single submitter
- p.Ser187= Single submitter
- p.Ser188= Single submitter
- p.Ser438= Single submitter
- p.Ser500= Single submitter
- p.Ser618= Single submitter
- p.Ser749= Single submitter
- p.Ser749Leu Single submitter
- p.Ser772Cys Single submitter ⚠
- p.Ser968= Single submitter
- p.Ser990= Single submitter
- p.Thr117= Single submitter
- p.Thr212= Single submitter
- p.Thr267= Single submitter
- p.Thr532= Single submitter
- p.Thr692= Single submitter
- p.Thr700= Single submitter
- p.Thr700Ala Single submitter
- p.Thr743= Single submitter
- p.Thr935= Single submitter
- p.Thr974Ile Single submitter ⚠
- p.Tyr167= Single submitter
- p.Tyr253= Single submitter
- p.Tyr257= Single submitter
- p.Val1010Leu Single submitter
- p.Val519Met Single submitter ⚠
- p.Val775Gly Single submitter
- p.Val775Leu Single submitter
- p.Val822Ile Single submitter
- p.Val824Met Single submitter ⚠
- p.Val851Met Single submitter ⚠
Benign/Likely benign 22
- c.822+16C>G Multiple submitters chronic myeloid leukemia
- p.Ala567= Multiple submitters
- p.Ala633= Multiple submitters chronic myeloid leukemia
- p.Ala647Val Multiple submitters
- p.Ala969Asp Multiple submitters Inborn genetic diseases ⚠
- p.Arg473Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg630Cys Multiple submitters Inborn genetic diseases ⚠
- p.Asn664Ser Multiple submitters Inborn genetic diseases
- p.Asp504= Multiple submitters
- p.Gly680= Multiple submitters
- p.Gly706Ser Multiple submitters
- p.Gly778Asp Multiple submitters Inborn genetic diseases
- p.Ile1043Val Multiple submitters ⚠
- p.Lys247Arg Multiple submitters
- p.Pro760= Multiple submitters
- p.Pro806Thr Multiple submitters Inborn genetic diseases
- p.Pro899Leu Multiple submitters ⚠
- p.Pro901= Multiple submitters
- p.Ser1115Thr Multiple submitters Inborn genetic diseases
- p.Ser679Ala Multiple submitters chronic myeloid leukemia
- p.Thr83= Multiple submitters congenital heart defects and skeletal malformations syndrome
- p.Val959Met Multiple submitters Inborn genetic diseases ⚠
Likely benign 388
Showing the top 300 by review status; the full set is in the sitemap.
- p.Ala1026Thr Multiple submitters Inborn genetic diseases
- p.Ala1042Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala269= Multiple submitters
- p.Ala337= Multiple submitters
- p.Ala602Thr Multiple submitters Inborn genetic diseases
- p.Ala699= Multiple submitters
- p.Ala719Thr Multiple submitters Inborn genetic diseases
- p.Ala767= Multiple submitters
- p.Arg31Gln Multiple submitters congenital heart defects and skeletal malformations syndrome
- p.Arg516Cys Multiple submitters Inborn genetic diseases ⚠
- p.Asn231Ser Multiple submitters Inborn genetic diseases
- p.Asn61= Multiple submitters
- p.Asn670Ser Multiple submitters Inborn genetic diseases
- p.Asp546= Multiple submitters
- p.Asp560Asn Multiple submitters
- p.Gln916Lys Multiple submitters Inborn genetic diseases
- p.Glu373Asp Multiple submitters Inborn genetic diseases ⚠
- p.Glu581= Multiple submitters Inborn genetic diseases
- p.Glu871Lys Multiple submitters Inborn genetic diseases
- p.Gly1025Ser Multiple submitters Inborn genetic diseases
- p.Gly706Val Multiple submitters chronic myeloid leukemia ⚠
- p.Lys1116= Multiple submitters
- p.Pro580Leu Multiple submitters Inborn genetic diseases
- p.Pro951= Multiple submitters
- p.Pro997Leu Multiple submitters Inborn genetic diseases
- p.Ser855Cys Multiple submitters Inborn genetic diseases ⚠
- p.Ser915Leu Multiple submitters
- p.Thr743Met Multiple submitters Inborn genetic diseases ⚠
- p.Val1031Met Multiple submitters Inborn genetic diseases
- p.Val547Met Multiple submitters Inborn genetic diseases ⚠
- p.Val938Leu Multiple submitters Inborn genetic diseases
- c.1086-12T>C Single submitter
- c.1086-5C>T Single submitter
- c.1086-6_1086-5insAT Single submitter
- c.1086-9C>G Single submitter
- c.1270+18A>G Single submitter
- c.1271-18C>T Single submitter
- c.136+13C>A Single submitter
- c.136+13C>G Single submitter
- c.136+13C>T Single submitter
- c.136+14A>G Single submitter
- c.136+15A>G Single submitter
- c.136+19T>G Single submitter
- c.1423+15G>T Single submitter
- c.1423+20T>C Single submitter
- c.1424-10A>G Single submitter
- c.1424-11C>T Single submitter
- c.1424-4C>G Single submitter
- c.1424-6G>A Single submitter
- c.1513+12A>G Single submitter
- c.1513+16C>T Single submitter
- c.1513+17G>A Single submitter
- c.1513+17G>T Single submitter
- c.1513+19_1513+20insCACC Single submitter
- c.1513+20G>C Single submitter
- c.1513+8A>T Single submitter
- c.1514-11A>G Single submitter
- c.1514-130C>T Single submitter
- c.1514-19G>A Single submitter
- c.1514-20T>C Single submitter
- c.1678+10C>T Single submitter
- c.1678+11C>G Single submitter
- c.1678+11C>T Single submitter
- c.1678+12G>A Single submitter
- c.1678+7C>T Single submitter
- c.1679-10T>C Single submitter
- c.1679-7G>A Single submitter
- c.1679-8C>T Single submitter
- c.253+11dup Single submitter
- c.253+14G>A Single submitter
- c.253+16del Single submitter
- c.254-14T>G Single submitter
- c.254-5C>G Single submitter
- c.254-9_254-6del Single submitter
- c.549+14G>A Single submitter
- c.549+8A>G Single submitter
- c.550-14C>T Single submitter
- c.550-7C>T Single submitter
- c.550-9T>A Single submitter
- c.80-12T>C Single submitter
- c.80-14C>G Single submitter
- c.80-14C>T Single submitter
- c.80-2A>G Single submitter
- c.822+16C>T Single submitter
- c.822+16del Single submitter
- c.822+17G>A Single submitter
- c.822+20G>A Single submitter
- c.823-12T>C Single submitter
- c.823-18G>A Single submitter
- c.823-19C>T Single submitter
- c.823-20T>C Single submitter
- c.907+12C>T Single submitter
- c.907+13G>A Single submitter
- c.908-16G>A Single submitter
- c.908-16G>T Single submitter
- c.908-17C>T Single submitter
- c.908-7_908-5del Single submitter
- p.Ala1001Thr Single submitter
- p.Ala1038= Single submitter
- p.Ala1038Val Single submitter ⚠
- p.Ala1051Thr Single submitter
- p.Ala1055Thr Single submitter ⚠
- p.Ala1059= Single submitter
- p.Ala1086= Single submitter
- p.Ala1086Thr Single submitter ⚠
- p.Ala1102Val Single submitter ⚠
- p.Ala19= Single submitter
- p.Ala206= Single submitter
- p.Ala288= Single submitter
- p.Ala380= Single submitter
- p.Ala395= Single submitter
- p.Ala399= Single submitter
- p.Ala412= Single submitter
- p.Ala45= Single submitter
- p.Ala492= Single submitter
- p.Ala518Ser Single submitter
- p.Ala56Thr Single submitter
- p.Ala645Ser Single submitter
- p.Ala647Thr Single submitter
- p.Ala654Asp Single submitter
- p.Ala68= Single submitter
- p.Ala827= Single submitter
- p.Ala841= Single submitter
- p.Ala870= Single submitter
- p.Ala922= Single submitter
- p.Ala922Val Single submitter ⚠
- p.Ala923= Single submitter
- p.Ala930Glu Single submitter
- p.Ala945Thr Single submitter
- p.Arg1021Gln Single submitter
- p.Arg1130Met Single submitter
- p.Arg14= Single submitter
- p.Arg175= Single submitter
- p.Arg307= Single submitter
- p.Arg473Gly Single submitter ⚠
- p.Arg542Gly Single submitter
- p.Arg574Gln Single submitter
- p.Arg589His Single submitter
- p.Arg617Cys Single submitter ⚠
- p.Arg622Gln Single submitter ⚠
- p.Arg622Trp Single submitter ⚠
- p.Arg630His Single submitter ⚠
- p.Arg682Gln Single submitter ⚠
- p.Arg697Cys Single submitter ⚠
- p.Arg712= Single submitter
- p.Arg715Cys Single submitter ⚠
- p.Arg738Gln Single submitter Inborn genetic diseases ⚠
- p.Arg764= Single submitter
- p.Arg764Gly Single submitter
- p.Arg771= Single submitter
- p.Arg777Gln Single submitter
- p.Arg820Trp Single submitter ⚠
- p.Arg876Gly Single submitter
- p.Arg887= Single submitter
- p.Asn1046Lys Single submitter ⚠
- p.Asn193= Single submitter
- p.Asn221= Single submitter
- p.Asn331Thr Single submitter ⚠
- p.Asn336= Single submitter
- p.Asn53= Single submitter
- p.Asn643= Single submitter
- p.Asn94Lys Single submitter ⚠
- p.Asn96Ser Single submitter
- p.Asp421= Single submitter
- p.Asp728Asn Single submitter
- p.Asp800= Single submitter
- p.Asp944Glu Single submitter
- p.Cys1067= Single submitter
- p.Cys305= Single submitter
- p.Cys717= Single submitter
- p.Cys721= Single submitter
- p.Gln1075= Single submitter
- p.Gln4His Single submitter
- p.Gln627= Single submitter
- p.Gln741_Gly754del Single submitter
- p.Gln774= Single submitter
- p.Gln916Arg Single submitter
- p.Gln920Arg Single submitter
- p.Gln996= Single submitter
- p.Glu282= Single submitter
- p.Glu286= Single submitter
- p.Glu507= Single submitter
- p.Glu540Asp Single submitter
- p.Glu558Asp Single submitter
- p.Glu565Lys Single submitter
- p.Glu629= Single submitter
- p.Glu635Lys Single submitter
- p.Glu637= Single submitter
- p.Glu702Lys Single submitter
- p.Glu791= Single submitter
- p.Glu792= Single submitter
- p.Glu835Ala Single submitter
- p.Glu872Asp Single submitter
- p.Gly1030Ser Single submitter
- p.Gly1060Ser Single submitter ⚠
- p.Gly1105Ser Single submitter
- p.Gly130= Single submitter
- p.Gly249= Single submitter
- p.Gly254= Single submitter
- p.Gly259= Single submitter
- p.Gly35= Single submitter
- p.Gly36= Single submitter
- p.Gly463= Single submitter
- p.Gly514= Single submitter
- p.Gly555= Single submitter
- p.Gly582= Single submitter
- p.Gly634Ser Single submitter
- p.Gly638Cys Single submitter ⚠
- p.Gly644= Single submitter
- p.Gly665Trp Single submitter Inborn genetic diseases ⚠
- p.Gly671Glu Single submitter ⚠
- p.Gly677= Single submitter
- p.Gly678Asp Single submitter ⚠
- p.Gly6Arg Single submitter
- p.Gly701= Single submitter
- p.Gly701Ser Single submitter
- p.Gly705= Single submitter
- p.Gly778Ser Single submitter
- p.Gly858= Single submitter
- p.Gly890Arg Single submitter ⚠
- p.Gly97= Single submitter
- p.His129= Single submitter
- p.His201= Single submitter
- p.His202= Single submitter
- p.His541Gln Single submitter
- p.His685Arg Single submitter
- p.His832Asn Single submitter
- p.His880= Single submitter
- p.Ile116= Single submitter
- p.Ile210= Single submitter
- p.Ile801Val Single submitter
- p.Ile976= Single submitter
- p.Leu1039= Single submitter
- p.Leu1057= Single submitter
- p.Leu122= Single submitter
- p.Leu184= Single submitter
- p.Leu198= Single submitter
- p.Leu266= Single submitter
- p.Leu29= Single submitter
- p.Leu323= Single submitter
- p.Leu370= Single submitter
- p.Leu452= Single submitter
- p.Leu510= Single submitter
- p.Leu522= Single submitter
- p.Leu528= Single submitter
- p.Leu562= Single submitter
- p.Leu599= Single submitter
- p.Leu651= Single submitter
- p.Leu651Trp Single submitter ⚠
- p.Leu673His Single submitter
- p.Leu714= Single submitter
- p.Leu736= Single submitter
- p.Leu740= Single submitter
- p.Leu786= Single submitter
- p.Leu80= Single submitter
- p.Leu892= Single submitter
- p.Leu928= Single submitter
- p.Leu937Gln Single submitter
- p.Leu955= Single submitter
- p.Leu985= Single submitter
- p.Leu9Pro Single submitter
- p.Lys1029= Single submitter
- p.Lys222= Single submitter
- p.Lys378= Single submitter
- p.Lys607= Single submitter
- p.Lys658= Single submitter
- p.Lys799Arg Single submitter
- p.Lys833= Single submitter
- p.Lys956Arg Single submitter
- p.Lys965= Single submitter
- p.Phe1066= Single submitter
- p.Phe1114Leu Single submitter ⚠
- p.Phe621= Single submitter
- p.Phe66= Single submitter
- p.Pro1018= Single submitter
- p.Pro158= Single submitter
- p.Pro310= Single submitter
- p.Pro39= Single submitter
- p.Pro408= Single submitter
- p.Pro441= Single submitter
- p.Pro551= Single submitter
- p.Pro580= Single submitter
- p.Pro580Gln Single submitter
- p.Pro612= Single submitter
- p.Pro628= Single submitter
- p.Pro628Leu Single submitter
- p.Pro662Leu Single submitter
- p.Pro723= Single submitter
- p.Pro760Leu Single submitter ⚠
- p.Pro782= Single submitter
- p.Pro783Ser Single submitter
- p.Pro806= Single submitter
- p.Pro806Gln Single submitter
- p.Pro869= Single submitter
- p.Pro897His Single submitter ⚠
- p.Pro897Ser Single submitter ⚠
- p.Pro899Ser Single submitter ⚠
- p.Pro900= Single submitter
- p.Pro900Leu Single submitter ⚠
- p.Pro914Leu Single submitter
Uncertain significance 285
- c.1514-7T>G Multiple submitters
- p.Ala1001Val Multiple submitters ABL1-related disorder ⚠
- p.Ala767Val Multiple submitters Inborn genetic diseases ⚠
- p.Arg1016Leu Multiple submitters ⚠
- p.Arg460His Multiple submitters ⚠
- p.Arg771Gly Multiple submitters Inborn genetic diseases ⚠
- p.Asn1088His Multiple submitters Inborn genetic diseases ⚠
- p.Asn414Lys Multiple submitters Inborn genetic diseases ⚠
- p.Asp421Asn Multiple submitters ⚠
- p.Glu123Gln Multiple submitters Inborn genetic diseases ⚠
- p.Gly626Asp Multiple submitters ⚠
- p.Gly677Arg Multiple submitters Inborn genetic diseases ⚠
- p.Pro784Arg Multiple submitters congenital heart defects and skeletal malformations syndrome ⚠
- p.Ser998Pro Multiple submitters Inborn genetic diseases ⚠
- p.Thr104Ser Multiple submitters congenital heart defects and skeletal malformations syndrome ⚠
- p.Tyr320Cys Multiple submitters Inborn genetic diseases ⚠
- p.Val225Ala Multiple submitters congenital heart defects and skeletal malformations syndrome ⚠
- p.Val422Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val938Ile Multiple submitters ABL1-related disorder ⚠
- c.1085+5G>A Single submitter
- c.1513+6G>T Single submitter
- c.254-5C>T Single submitter Inborn genetic diseases
- c.549+4G>A Single submitter
- c.822+4G>C Single submitter
- c.822+6C>G Single submitter
- c.823-2A>G Single submitter
- p.Ala1026Ser Single submitter Inborn genetic diseases ⚠
- p.Ala1109Val Single submitter cardiomyopathy ⚠
- p.Ala288Thr Single submitter ⚠
- p.Ala366Ser Single submitter ⚠
- p.Ala397Val Single submitter congenital heart defects and skeletal malformations syndrome ⚠
- p.Ala46Thr Single submitter ⚠
- p.Ala567Val Single submitter ⚠
- p.Ala633Thr Single submitter ⚠
- p.Ala666Pro Single submitter Inborn genetic diseases ⚠
- p.Ala767Glu Single submitter ⚠
- p.Ala904Thr Single submitter ⚠
- p.Ala905Thr Single submitter ⚠
- p.Ala926Glu Single submitter ⚠
- p.Ala940Gly Single submitter Inborn genetic diseases ⚠
- p.Ala940Ser Single submitter ⚠
- p.Ala962Val Single submitter Inborn genetic diseases ⚠
- p.Arg1016Cys Single submitter ⚠
- p.Arg1016His Single submitter Inborn genetic diseases ⚠
- p.Arg1021Trp Single submitter ⚠
- p.Arg1084Ter Single submitter
- p.Arg14Lys Single submitter
- p.Arg152His Single submitter ⚠
- p.Arg191Leu Single submitter Inborn genetic diseases ⚠
- p.Arg239Cys Single submitter ⚠
- p.Arg239His Single submitter Inborn genetic diseases ⚠
- p.Arg307Gln Single submitter Inborn genetic diseases ⚠
- p.Arg307Trp Single submitter ⚠
- p.Arg31Trp Single submitter Inborn genetic diseases ⚠
- p.Arg386fs Single submitter
- p.Arg457Cys Single submitter ⚠
- p.Arg457Leu Single submitter Inborn genetic diseases ⚠
- p.Arg460Ser Single submitter congenital heart defects and skeletal malformations syndrome ⚠
- p.Arg47Cys Single submitter ⚠
- p.Arg483Trp Single submitter ⚠
- p.Arg516His Single submitter Inborn genetic diseases ⚠
- p.Arg574Gly Single submitter ⚠
- p.Arg617His Single submitter ⚠
- p.Arg639Gln Single submitter ⚠
- p.Arg639Pro Single submitter ⚠
- p.Arg639Ter Single submitter
- p.Arg764Leu Single submitter ⚠
- p.Arg766Thr Single submitter ⚠
- p.Arg771Ser Single submitter ⚠
- p.Arg785Ser Single submitter ⚠
- p.Arg876Trp Single submitter Inborn genetic diseases ⚠
- p.Arg894Ser Single submitter Inborn genetic diseases ⚠
- p.Arg89Trp Single submitter ⚠
- p.Asn1046Asp Single submitter ⚠
- p.Asn106Ser Single submitter Inborn genetic diseases ⚠
- p.Asn120Thr Single submitter ⚠
- p.Asn135Asp Single submitter ⚠
- p.Asn146His Single submitter Inborn genetic diseases ⚠
- p.Asn146Ser Single submitter ⚠
- p.Asn177Ser Single submitter ⚠
- p.Asn331Ile Single submitter Inborn genetic diseases ⚠
- p.Asn358Thr Single submitter ⚠
- p.Asn94His Single submitter ⚠
- p.Asp1034Ala Single submitter ⚠
- p.Asp1126Tyr Single submitter ⚠
- p.Asp207Asn Single submitter ⚠
- p.Asp276fs Single submitter
- p.Asp504Asn Single submitter ⚠
- p.Asp543His Single submitter ⚠
- p.Asp546His Single submitter Inborn genetic diseases ⚠
- p.Asp587Ala Single submitter ⚠
- p.Asp640Asn Single submitter Inborn genetic diseases ⚠
- p.Asp800Gly Single submitter ⚠
- p.Asp944Gly Single submitter ⚠
- p.Gln1017His Single submitter ⚠
- p.Gln477Arg Single submitter Inborn genetic diseases ⚠
- p.Gln524Glu Single submitter Inborn genetic diseases ⚠
- p.Gln627fs Single submitter
- p.Gln741Pro Single submitter ⚠
- p.Gln774Lys Single submitter Inborn genetic diseases ⚠
- p.Glu101Ala Single submitter Inborn genetic diseases ⚠
- p.Glu1020Gln Single submitter ⚠
- p.Glu1037Gln Single submitter congenital heart defects and skeletal malformations syndrome ⚠
- p.Glu1037Lys Single submitter ⚠
- p.Glu153Gln Single submitter ⚠
- p.Glu197Gly Single submitter ⚠
- p.Glu258Lys Single submitter ⚠
- p.Glu292Gln Single submitter ⚠
- p.Glu329Ala Single submitter Inborn genetic diseases ⚠
- p.Glu334Lys Single submitter Inborn genetic diseases ⚠
- p.Glu450Asp Single submitter ⚠
- p.Glu462Gln Single submitter ⚠
- p.Glu505Lys Single submitter congenital heart defects and skeletal malformations syndrome ⚠
- p.Glu509Leu Single submitter
- p.Glu527Gly Single submitter ⚠
- p.Glu576Gln Single submitter chronic myeloid leukemia ⚠
- p.Glu675Asp Single submitter ABL1-related disorder ⚠
- p.Glu702Val Single submitter ⚠
- p.Glu704del Single submitter
- p.Glu791Lys Single submitter Inborn genetic diseases ⚠
- p.Glu871Gln Single submitter ⚠
- p.Glu872Lys Single submitter ABL1-related disorder ⚠
- p.Glu883Gly Single submitter ⚠
- p.Gly10Glu Single submitter
- p.Gly1105Arg Single submitter ⚠
- p.Gly147Ser Single submitter ⚠
- p.Gly182Ser Single submitter ⚠
- p.Gly511Arg Single submitter congenital heart defects and skeletal malformations syndrome ⚠
- p.Gly517Glu Single submitter ABL1-related disorder ⚠
- p.Gly57Arg Single submitter ⚠
- p.Gly632Arg Single submitter ⚠
- p.Gly644Arg Single submitter ⚠
- p.Gly678Ser Single submitter ⚠
- p.Gly701Cys Single submitter Inborn genetic diseases ⚠
- p.Gly725Glu Single submitter ⚠
- p.Gly829Asp Single submitter Inborn genetic diseases ⚠
- p.Gly839Asp Single submitter ⚠
- p.Gly839Ser Single submitter ⚠
- p.Gly858Ser Single submitter ⚠
- p.Gly860Asp Single submitter ⚠
- p.Gly863Glu Single submitter ⚠
- p.Gly864fs Single submitter
- p.Gly868Ser Single submitter ⚠
- p.Gly952Glu Single submitter ⚠
- p.His125Gln Single submitter ⚠
- p.His129Arg Single submitter ⚠
- p.His564Arg Single submitter ⚠
- p.His724fs Single submitter Developmental disorder
- p.His880Asp Single submitter Inborn genetic diseases ⚠
- p.Ile1027Val Single submitter ⚠
- p.Ile1043Leu Single submitter ⚠
- p.Ile1099Met Single submitter ⚠
- p.Ile293Phe Single submitter ⚠
- p.Ile418Val Single submitter ⚠
- p.Ile443Met Single submitter ⚠
- p.Ile502Met Single submitter congenital heart defects and skeletal malformations syndrome ⚠
- p.Ile502Thr Single submitter Inborn genetic diseases ⚠
- p.Ile604Met Single submitter ⚠
- p.Ile641del Single submitter
- p.Ile82Leu Single submitter ⚠
- p.Leu1005Val Single submitter ⚠
- p.Leu1012fs Single submitter
- p.Leu1033Pro Single submitter ⚠
- p.Leu184Phe Single submitter ⚠
- p.Leu55del Single submitter
- p.Leu646fs Single submitter
- p.Leu740Phe Single submitter ABL1-related disorder ⚠
- p.Leu786Pro Single submitter ⚠
- p.Leu895Phe Single submitter ⚠
- p.Leu9Phe Single submitter
- p.Lys294Asn Single submitter ABL1-related congenital heart defects and skeletal malformations syndrome ⚠
- p.Lys356Arg Single submitter ⚠
- p.Lys415Thr Single submitter ⚠
- p.Lys593Thr Single submitter Inborn genetic diseases ⚠
- p.Lys596Asn Single submitter ⚠
- p.Lys605Glu Single submitter Inborn genetic diseases ⚠
- p.Lys609_Thr610insLys Single submitter
- p.Lys609del Single submitter
- p.Lys616Arg Single submitter Inborn genetic diseases ⚠
- p.Lys616Asn Single submitter ⚠
- p.Lys658Asn Single submitter ⚠
- p.Lys689del Single submitter
- p.Lys816Glu Single submitter ⚠
- p.Lys879fs Single submitter
- p.Lys896Thr Single submitter ⚠
- p.Lys909Asn Single submitter Inborn genetic diseases ⚠
- p.Lys933Asn Single submitter ⚠
- p.Met1050Leu Single submitter ⚠
- p.Met1050Thr Single submitter Inborn genetic diseases ⚠
- p.Met343Val Single submitter ⚠
- p.Met437Thr Single submitter ⚠
- p.Met802Thr Single submitter ⚠
- p.Phe311fs Single submitter
- p.Phe37Leu Single submitter ⚠
- p.Phe37Val Single submitter ⚠
- p.Phe752Cys Single submitter ⚠
- p.Phe752Leu Single submitter ⚠
- p.Pro1108Leu Single submitter
- p.Pro158Arg Single submitter ⚠
- p.Pro158Leu Single submitter ⚠
- p.Pro39Arg Single submitter ⚠
- p.Pro461Thr Single submitter ⚠
- p.Pro548Arg Single submitter ⚠
- p.Pro551His Single submitter congenital heart disease ⚠
- p.Pro561Ala Single submitter ⚠
- p.Pro579Leu Single submitter ⚠
- p.Pro63Leu Single submitter ⚠
- p.Pro760Gln Single submitter ⚠
- p.Pro845fs Single submitter congenital heart defects and skeletal malformations syndrome
- p.Pro845Leu Single submitter Inborn genetic diseases ⚠
- p.Pro958Leu Single submitter ⚠
- p.Pro966Leu Single submitter Inborn genetic diseases ⚠
- p.Pro975Ser Single submitter ⚠
- p.Pro978Arg Single submitter Inborn genetic diseases ⚠
- p.Pro978Leu Single submitter ⚠
- p.Ser1011Pro Single submitter ⚠
- p.Ser1052Arg Single submitter ⚠
- p.Ser1052Thr Single submitter ⚠
- p.Ser1069Gly Single submitter ⚠
- p.Ser1120Leu Single submitter Inborn genetic diseases ⚠
- p.Ser180Phe Single submitter ⚠
- p.Ser190Arg Single submitter ⚠
- p.Ser503Pro Single submitter ⚠
- p.Ser535Phe Single submitter ⚠
- p.Ser553Phe Single submitter Inborn genetic diseases ⚠
- p.Ser75Gly Single submitter ⚠
- p.Ser828Leu Single submitter ⚠
- p.Ser840Cys Single submitter Inborn genetic diseases ⚠
- p.Ser855Asn Single submitter ⚠
- p.Ser859Leu Single submitter Inborn genetic diseases ⚠
- p.Ser866Gly Single submitter Inborn genetic diseases ⚠
- p.Ser873Thr Single submitter ⚠
- p.Ser906Ala Single submitter Inborn genetic diseases ⚠
- p.Ser917Asn Single submitter ⚠
- p.Ser919Asn Single submitter Inborn genetic diseases ⚠
- p.Ser972Pro Single submitter Inborn genetic diseases ⚠
- p.Ser977Gly Single submitter ⚠
- p.Ser990Thr Single submitter Inborn genetic diseases ⚠
- p.Thr212Met Single submitter congenital heart defects and skeletal malformations syndrome ⚠
- p.Thr240Met Single submitter ⚠
- p.Thr243Asn Single submitter ⚠
- p.Thr267Met Single submitter ⚠
- p.Thr392Ile Single submitter ⚠
- p.Thr521Ile Single submitter ⚠
- p.Thr521Ser Single submitter ⚠
- p.Thr532Met Single submitter Inborn genetic diseases ⚠
- p.Thr532Ser Single submitter Inborn genetic diseases ⚠
- p.Thr544Ile Single submitter ⚠
- p.Thr610Arg Single submitter ⚠
- p.Thr613Ala Single submitter ⚠
- p.Thr649Asn Single submitter ⚠
- p.Thr692Pro Single submitter ⚠
- p.Thr694Ile Single submitter Inborn genetic diseases ⚠
- p.Thr776Ile Single submitter ⚠
- p.Thr844Asn Single submitter ⚠
- p.Thr935Pro Single submitter ⚠
- p.Thr984del Single submitter
- p.Trp127Gly Single submitter ⚠
- p.Trp127Ter Single submitter
- p.Tyr115Cys Single submitter congenital heart defects and skeletal malformations syndrome ⚠
- p.Tyr215Phe Single submitter ⚠
- p.Tyr413Phe Single submitter ⚠
- p.Tyr70Cys Single submitter ⚠
- p.Tyr93Gln Single submitter
- p.Val1031Leu Single submitter ⚠
- p.Val1068Ala Single submitter congenital heart defects and skeletal malformations syndrome ⚠
- p.Val1128Gly Single submitter ⚠
- p.Val186Ile Single submitter ⚠
- p.Val199Ile Single submitter ⚠
- p.Val228Ala Single submitter congenital heart defects and skeletal malformations syndrome ⚠
- p.Val304Ile Single submitter ⚠
- p.Val338Met Single submitter ⚠
- p.Val427Ala Single submitter Inborn genetic diseases ⚠
- p.Val43Ala Single submitter
- p.Val506Leu Single submitter ⚠
- p.Val568Leu Single submitter Inborn genetic diseases ⚠
- p.Val668Phe Single submitter ⚠
- p.Val851Ala Single submitter ⚠
- p.Val90Ile Single submitter Inborn genetic diseases ⚠
- p.Val90Phe Single submitter Inborn genetic diseases ⚠
- p.Val927Asp Single submitter Inborn genetic diseases ⚠
- p.Val959fs Single submitter
- p.Val981Phe Single submitter ⚠
- p.Arg764Gln No assertion criteria ABL1-related disorder ⚠
- p.Pro58Ser No assertion criteria ABL1-related disorder ⚠