PAX5 — 494 ClinVar variants

All ClinVar germline PAX5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 218 flagged for review →

2 Pathogenic · 13 Likely pathogenic · 7 Conflicting · 27 Benign · 10 Benign/Likely benign · 193 Likely benign · 242 Uncertain significance

Full PAX5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 218

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 2

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

PAX5 p.Gly85Arg Conflicting Single submitter
leukemia, acute lymphoblastic, susceptibility to, 3
PAX5 p.Ser213Leu Conflicting Single submitter
leukemia, acute lymphoblastic, susceptibility to, 3

Predictors lean, ClinVar uncertain 157

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 157

PAX5 p.Ala308Thr Uncertain significance Multiple submitters
Inborn genetic diseases
PAX5 p.Ala376Thr Uncertain significance Multiple submitters
PAX5 p.Ala383Val Uncertain significance Multiple submitters
Inborn genetic diseases
PAX5 p.Ala45Ser Uncertain significance Multiple submitters
Inborn genetic diseases
PAX5 p.Arg122Gln Uncertain significance Multiple submitters
Inborn genetic diseases
PAX5 p.Gln233Lys Uncertain significance Multiple submitters
Inborn genetic diseases
PAX5 p.Gly202Asp Uncertain significance Multiple submitters
Inborn genetic diseases
PAX5 p.Ile114Val Uncertain significance Multiple submitters
Inborn genetic diseases
PAX5 p.Leu228Phe Uncertain significance Multiple submitters
Inborn genetic diseases
PAX5 p.Leu234Pro Uncertain significance Multiple submitters
leukemia, acute lymphoblastic, susceptibility to, 3
PAX5 p.Met277Val Uncertain significance Multiple submitters
Inborn genetic diseases
PAX5 p.Pro207Leu Uncertain significance Multiple submitters
PAX5 p.Pro321Ser Uncertain significance Multiple submitters
leukemia, acute lymphoblastic, susceptibility to, 3
PAX5 p.Pro34Leu Uncertain significance Multiple submitters
leukemia, acute lymphoblastic, susceptibility to, 3
PAX5 p.Pro361Ser Uncertain significance Multiple submitters
Inborn genetic diseases
PAX5 p.Pro8Ser Uncertain significance Multiple submitters
leukemia, acute lymphoblastic, susceptibility to, 3
PAX5 p.Ser247Leu Uncertain significance Multiple submitters
Inborn genetic diseases
PAX5 p.Ser339Asn Uncertain significance Multiple submitters
Inborn genetic diseases
PAX5 p.Thr12Asn Uncertain significance Multiple submitters
Inborn genetic diseases
PAX5 p.Thr285Ile Uncertain significance Multiple submitters
Inborn genetic diseases
PAX5 p.Thr303Ala Uncertain significance Multiple submitters
Inborn genetic diseases
PAX5 p.Tyr388Cys Uncertain significance Multiple submitters
Inborn genetic diseases
PAX5 p.Val293Met Uncertain significance Multiple submitters
Inborn genetic diseases
PAX5 p.Ala120Ser Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Ala120Val Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Ala266Val Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Ala271Gly Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Ala271Pro Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Ala271Val Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Ala279Val Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Ala374Pro Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Ala374Val Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Ala376Gly Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Ala380Val Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Ala385Ser Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Ala45Thr Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Ala45Val Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Arg104His Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Arg115Ser Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Arg117Gln Uncertain significance Single submitter
PAX5 p.Arg117Trp Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Arg11Gln Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Arg137Trp Uncertain significance Single submitter
PAX5 p.Arg225Trp Uncertain significance Single submitter
PAX5 p.Arg239Leu Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Arg31Gln Uncertain significance Single submitter
PAX5 p.Arg31Trp Uncertain significance Single submitter
PAX5 p.Arg390Gly Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Arg390His Uncertain significance Single submitter
leukemia, acute lymphoblastic, susceptibility to, 3
PAX5 p.Arg56Lys Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Asn210Asp Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Asp127Ala Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Asp275Asn Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Asp35Gly Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Asp53Asn Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Cys124Tyr Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Gln22His Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Gln22Lys Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Gln231Arg Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Gln244Arg Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Glu205Asp Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Glu205Gln Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Gly202Ala Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Gly211Ser Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Gly216Ser Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Gly226Ala Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Gly24Ala Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Gly295Ser Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.His46Asn Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Ile256Ser Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Ile289Phe Uncertain significance Single submitter
PAX5 p.Ile289Thr Uncertain significance Single submitter
PAX5 p.Ile289Val Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Ile301Met Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Ile301Thr Uncertain significance Single submitter
PAX5 p.Ile301Val Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Ile54Val Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Ile78Asn Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Ile78Thr Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Leu214Phe Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Leu274Gln Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Leu312Ile Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Leu3Val Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Lys103Ile Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Lys222Arg Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Lys79Asn Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Lys98Asn Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Met109Ile Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Met224Leu Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Met267Val Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Met277Leu Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Met277Thr Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Pro107Ala Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Pro107Arg Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Pro107Ser Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Pro10Leu Uncertain significance Single submitter
PAX5 p.Pro207Ala Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Pro207Ser Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Pro209Ala Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Pro209Arg Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Pro209Leu Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Pro215Leu Uncertain significance Single submitter
PAX5 p.Pro255His Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Pro255Ser Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Pro284Leu Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Pro294Gln Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Pro296Arg Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Pro296Leu Uncertain significance Single submitter
leukemia, acute lymphoblastic, susceptibility to, 3
PAX5 p.Pro300Ser Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Pro321Thr Uncertain significance Single submitter
PAX5 p.Pro32Leu Uncertain significance Single submitter
PAX5 p.Pro330Ser Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Pro337Thr Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Pro345Ser Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Pro345Thr Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Pro349Ser Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Pro382Ser Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Pro382Thr Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Pro8Leu Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Pro8Thr Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Pro93Arg Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Pro93Leu Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Pro93Ser Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Ser131Thr Uncertain significance Single submitter
PAX5 p.Ser13Thr Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Ser206Thr Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Ser247Ala Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Ser298Thr Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Ser339Gly Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Ser344Asn Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Ser66Asn Uncertain significance Single submitter
acute lymphoblastic leukemia
PAX5 p.Thr128Ile Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Thr128Pro Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Thr15Ala Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Thr15Ile Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Thr251Asn Uncertain significance Single submitter
PAX5 p.Thr253Ala Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Thr261Ala Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Thr261Asn Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Thr285Ala Uncertain significance Single submitter
PAX5 p.Thr285Ser Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Thr303Arg Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Thr310Ala Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Thr310Met Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Thr331Met Uncertain significance Single submitter
PAX5 p.Thr386Ala Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Thr92Ile Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Thr92Lys Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Thr9Ser Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Tyr7Asp Uncertain significance Single submitter
Inborn genetic diseases

Predictors split 59

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

PAX5 p.Arg239Cys Uncertain significance Multiple submitters
Inborn genetic diseases
PAX5 p.Gly343Arg Uncertain significance Multiple submitters
PAX5 p.Pro321Arg Uncertain significance Multiple submitters
Inborn genetic diseases
PAX5 p.Val82Ile Benign/Likely benign Multiple submitters
PAX5 p.Arg221Gln Uncertain significance Single submitter
PAX5 p.Arg221Pro Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Arg239Ser Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Arg243Lys Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Arg305Cys Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Arg359Ser Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Arg390Cys Uncertain significance Single submitter
PAX5 p.Arg40Lys Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Asn362Asp Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Asp116Glu Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Asp238Asn Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Asp356Gly Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Gln223Pro Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Gln232Pro Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Gln350Leu Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Glu235Lys Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Gly211Asp Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Gly216Val Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Gly272Cys Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Gly314Arg Uncertain significance Single submitter
PAX5 p.Gly323Arg Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Gly325Asp Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Gly364Glu Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Gly367Ala Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Gly378Arg Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Gly70Ala Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Gly70Ser Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.His245Arg Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.His245Asn Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.His318Arg Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Ile249Ser Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Ile249Thr Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Ile256Met Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Leu220Pro Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Leu237Arg Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Leu270Pro Uncertain significance Single submitter
PAX5 p.Leu281Pro Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Phe241Ser Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Phe250Val Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Pro313Leu Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Pro320Arg Uncertain significance Single submitter
PAX5 p.Pro330Arg Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Ser206Tyr Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Ser309Arg Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Ser339Arg Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Ser344Arg Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Ser368Phe Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Ser368Pro Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Ser373Asn Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Tyr246Phe Uncertain significance Single submitter
PAX5 p.Tyr264His Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Tyr371Cys Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Val36Ala Uncertain significance Single submitter
PAX5 p.Val49Ala Uncertain significance Single submitter
Inborn genetic diseases
PAX5 p.Val96Glu Uncertain significance Single submitter
Inborn genetic diseases

All PAX5 variants

Pathogenic 2

p.Arg221Trp No assertion criteria neurodevelopmental disorder
p.Asp53His No assertion criteria neurodevelopmental disorder

Likely pathogenic 13

p.Ala322fs Multiple submitters PAX5-related disorder
c.46+1G>A Single submitter acute lymphoblastic leukemia
p.Ala45fs Single submitter acute lymphoblastic leukemia
p.Glu205Ter Single submitter acute lymphoblastic leukemia
p.Gly323Ter Single submitter acute lymphoblastic leukemia
p.Pro130Thr Single submitter acute lymphoblastic leukemia
p.Pro80Arg Single submitter acute lymphoblastic leukemia
p.Ser134Cys Single submitter acute lymphoblastic leukemia
p.Ser357_Trp358insTer Single submitter acute lymphoblastic leukemia
p.Trp358Ter Single submitter acute lymphoblastic leukemia
p.Val26fs Single submitter PAX5-related disorder
p.Val26Gly Single submitter acute lymphoblastic leukemia
p.Val90fs Single submitter acute lymphoblastic leukemia

Conflicting classifications of pathogenicity 7

c.780+4C>T Single submitter
p.Ala375= Single submitter PAX5-related disorder
p.Gly273= Single submitter Inborn genetic diseases
p.Gly85Arg Single submitter leukemia, acute lymphoblastic, susceptibility to, 3 ⚠
p.Ile78= Single submitter Inborn genetic diseases
p.Ser213Leu Single submitter leukemia, acute lymphoblastic, susceptibility to, 3 ⚠
p.Pro321His No assertion criteria neurodevelopmental disorder

Benign 27

c.1013-213C>T Multiple submitters
c.1100-52G>A Multiple submitters
c.1100-94G>C Multiple submitters
c.212+117C>T Multiple submitters
c.213-43T>C Multiple submitters
c.781-127C>T Multiple submitters
c.911-39A>G Multiple submitters
c.*230G>A Multiple submitters
c.1012+135A>G Single submitter
c.1099+247G>A Single submitter
c.212+272C>T Single submitter
c.213-259C>T Single submitter
c.410+283C>T Single submitter
c.46+290T>C Single submitter
c.47-152G>A Single submitter
c.780+167T>C Single submitter
c.781-285G>C Single submitter
c.781-4620G>C Single submitter
c.781-4807A>G Single submitter
c.781-4815G>T Single submitter
c.781-4908G>T Single submitter
c.781-5023G>A Single submitter
c.781-5095A>G Single submitter
c.911-190GT[10] Single submitter
c.911-190GT[13] Single submitter
c.911-190GT[15] Single submitter
c.911-190GT[16] Single submitter

Benign/Likely benign 10

c.1100-11G>A Multiple submitters
c.212+11T>G Multiple submitters
p.Ala308Val Multiple submitters
p.Ala322Thr Multiple submitters
p.Asp2Glu Multiple submitters
p.Gly343= Multiple submitters
p.His318= Multiple submitters Inborn genetic diseases
p.Tyr370= Multiple submitters
p.Tyr372= Multiple submitters Inborn genetic diseases
p.Val82Ile Multiple submitters ⚠

Likely benign 193

c.1012+68C>G Multiple submitters
c.1013-7T>C Multiple submitters
c.1099+12C>T Multiple submitters
c.1099+13G>A Multiple submitters
c.1100-11G>T Multiple submitters
c.1100-12C>T Multiple submitters
c.46+8C>G Multiple submitters
c.780+33C>T Multiple submitters
c.781-16_781-15del Multiple submitters
c.910+9A>G Multiple submitters
c.*111C>T Multiple submitters
p.Ala266= Multiple submitters Inborn genetic diseases
p.Ala379= Multiple submitters Inborn genetic diseases
p.Ala383= Multiple submitters Inborn genetic diseases
p.Ala384= Multiple submitters Inborn genetic diseases
p.Arg104= Multiple submitters Inborn genetic diseases
p.Arg239= Multiple submitters Inborn genetic diseases
p.Arg31= Multiple submitters Inborn genetic diseases
p.Arg377= Multiple submitters Inborn genetic diseases
p.Asn210= Multiple submitters Inborn genetic diseases
p.Asn355= Multiple submitters Inborn genetic diseases
p.Asp275= Multiple submitters Inborn genetic diseases
p.Gly295= Multiple submitters Inborn genetic diseases
p.Ile289= Multiple submitters Inborn genetic diseases
p.Ile83= Multiple submitters Inborn genetic diseases
p.Leu234= Multiple submitters Inborn genetic diseases
p.Leu270= Multiple submitters Inborn genetic diseases
p.Leu274= Multiple submitters Inborn genetic diseases
p.Leu365= Multiple submitters Inborn genetic diseases
p.Pro207= Multiple submitters Inborn genetic diseases
p.Pro215= Multiple submitters Inborn genetic diseases
p.Pro258= Multiple submitters Inborn genetic diseases
p.Pro296= Multiple submitters Inborn genetic diseases
p.Pro313= Multiple submitters Inborn genetic diseases
p.Pro321= Multiple submitters Inborn genetic diseases
p.Pro330= Multiple submitters Inborn genetic diseases
p.Pro34= Multiple submitters Inborn genetic diseases
p.Pro369= Multiple submitters Inborn genetic diseases
p.Ser131= Multiple submitters Inborn genetic diseases
p.Ser213= Multiple submitters Inborn genetic diseases
p.Ser269= Multiple submitters Inborn genetic diseases
p.Ser342= Multiple submitters Inborn genetic diseases
p.Ser373= Multiple submitters Inborn genetic diseases
p.Thr108= Multiple submitters Inborn genetic diseases
p.Val236= Multiple submitters Inborn genetic diseases
p.Val319= Multiple submitters Inborn genetic diseases
p.Val96= Multiple submitters Inborn genetic diseases
c.1012+16C>T Single submitter
c.1012+62T>C Single submitter
c.1013-3C>T Single submitter
c.1013-5C>A Single submitter
c.1013-6A>G Single submitter leukemia, acute lymphoblastic, susceptibility to, 3
c.1099+19C>T Single submitter
c.1100-73G>T Single submitter
c.212+17G>A Single submitter
c.212+245A>G Single submitter
c.213-10T>G Single submitter
c.213-19C>T Single submitter
c.213-7G>A Single submitter
c.410+11C>T Single submitter
c.410+12G>T Single submitter
c.410+17T>C Single submitter
c.47-17T>C Single submitter
c.47-263A>G Single submitter
c.605-228A>G Single submitter
c.780+15G>A Single submitter
c.780+18C>T Single submitter
c.780+45C>T Single submitter
c.780+9C>T Single submitter
c.781-16C>T Single submitter
c.911-14C>T Single submitter
c.911-190GT[11] Single submitter
p.Ala268= Single submitter Inborn genetic diseases
p.Ala279= Single submitter Inborn genetic diseases
p.Ala282= Single submitter Inborn genetic diseases
p.Ala308= Single submitter Inborn genetic diseases
p.Ala329= Single submitter Inborn genetic diseases
p.Ala374= Single submitter Inborn genetic diseases
p.Ala376= Single submitter Inborn genetic diseases
p.Ala380= Single submitter Inborn genetic diseases
p.Ala385= Single submitter Inborn genetic diseases
p.Ala387= Single submitter
p.Ala45= Single submitter Inborn genetic diseases
p.Arg122= Single submitter Inborn genetic diseases
p.Arg38= Single submitter Inborn genetic diseases
p.Arg50= Single submitter Inborn genetic diseases
p.Arg59= Single submitter Inborn genetic diseases
p.Asn126= Single submitter Inborn genetic diseases
p.Asn136= Single submitter Inborn genetic diseases
p.Asn29= Single submitter Inborn genetic diseases
p.Asn362= Single submitter Inborn genetic diseases
p.Asp125= Single submitter Inborn genetic diseases
p.Asp127= Single submitter Inborn genetic diseases
p.Asp248= Single submitter Inborn genetic diseases
p.Asp35= Single submitter Inborn genetic diseases
p.Asp53= Single submitter Inborn genetic diseases
p.Cys124= Single submitter Inborn genetic diseases
p.Cys52= Single submitter Inborn genetic diseases
p.Gln233= Single submitter Inborn genetic diseases
p.Gln350= Single submitter Inborn genetic diseases
p.Gln39= Single submitter Inborn genetic diseases
p.Gln57= Single submitter Inborn genetic diseases
p.Glu101= Single submitter Inborn genetic diseases
p.Glu113= Single submitter Inborn genetic diseases
p.Glu121= Single submitter Inborn genetic diseases
p.Glu254= Single submitter Inborn genetic diseases
p.Glu263= Single submitter Inborn genetic diseases
p.Glu340= Single submitter Inborn genetic diseases
p.Gly18= Single submitter Inborn genetic diseases
p.Gly211= Single submitter Inborn genetic diseases
p.Gly216= Single submitter Inborn genetic diseases
p.Gly226= Single submitter Inborn genetic diseases
p.Gly24= Single submitter Inborn genetic diseases
p.Gly25= Single submitter Inborn genetic diseases
p.Gly272= Single submitter Inborn genetic diseases
p.Gly290= Single submitter Inborn genetic diseases
p.Gly30= Single submitter Inborn genetic diseases
p.Gly314= Single submitter Inborn genetic diseases
p.Gly334= Single submitter Inborn genetic diseases
p.Gly338= Single submitter Inborn genetic diseases
p.Gly367= Single submitter Inborn genetic diseases
p.Gly76= Single submitter Inborn genetic diseases
p.Gly81= Single submitter Inborn genetic diseases
p.Gly85= Single submitter Inborn genetic diseases
p.His17= Single submitter Inborn genetic diseases
p.His348= Single submitter Inborn genetic diseases
p.Ile99= Single submitter Inborn genetic diseases
p.Leu118= Single submitter Inborn genetic diseases
p.Leu237= Single submitter Inborn genetic diseases
p.Leu312= Single submitter Inborn genetic diseases
p.Leu33= Single submitter Inborn genetic diseases
p.Leu332= Single submitter Inborn genetic diseases
p.Leu44= Single submitter Inborn genetic diseases
p.Leu58= Single submitter Inborn genetic diseases
p.Leu69= Single submitter Inborn genetic diseases
p.Lys257= Single submitter Inborn genetic diseases
p.Lys278= Single submitter Inborn genetic diseases
p.Phe27= Single submitter Inborn genetic diseases
p.Phe360= Single submitter Inborn genetic diseases
p.Pro209= Single submitter Inborn genetic diseases
p.Pro255= Single submitter Inborn genetic diseases
p.Pro286= Single submitter Inborn genetic diseases
p.Pro316= Single submitter Inborn genetic diseases
p.Pro317= Single submitter Inborn genetic diseases
p.Pro320= Single submitter Inborn genetic diseases
p.Pro321Ala Single submitter Inborn genetic diseases
p.Pro363= Single submitter Inborn genetic diseases
p.Pro382= Single submitter Inborn genetic diseases
p.Pro51= Single submitter Inborn genetic diseases
p.Pro8= Single submitter Inborn genetic diseases
p.Pro80= Single submitter Inborn genetic diseases
p.Pro88= Single submitter Inborn genetic diseases
p.Pro93= Single submitter Inborn genetic diseases
p.Ser283= Single submitter Inborn genetic diseases
p.Ser291= Single submitter Inborn genetic diseases
p.Ser298= Single submitter Inborn genetic diseases
p.Ser326= Single submitter Inborn genetic diseases
p.Ser328= Single submitter Inborn genetic diseases
p.Ser353= Single submitter Inborn genetic diseases
p.Ser368= Single submitter Inborn genetic diseases
p.Ser55= Single submitter Inborn genetic diseases
p.Ser77= Single submitter Inborn genetic diseases
p.Thr128= Single submitter Inborn genetic diseases
p.Thr251= Single submitter Inborn genetic diseases
p.Thr252= Single submitter Inborn genetic diseases
p.Thr253= Single submitter Inborn genetic diseases
p.Thr262= Single submitter Inborn genetic diseases
p.Thr310= Single submitter Inborn genetic diseases
p.Thr311= Single submitter Inborn genetic diseases
p.Thr331= Single submitter Inborn genetic diseases
p.Thr386= Single submitter Inborn genetic diseases
p.Thr75= Single submitter Inborn genetic diseases
p.Thr92= Single submitter Inborn genetic diseases
p.Tyr246= Single submitter Inborn genetic diseases
p.Tyr264= Single submitter Inborn genetic diseases
p.Tyr299= Single submitter Inborn genetic diseases
p.Tyr346= Single submitter
p.Tyr7= Single submitter Inborn genetic diseases
p.Tyr73= Single submitter Inborn genetic diseases
p.Val129= Single submitter Inborn genetic diseases
p.Val132= Single submitter Inborn genetic diseases
p.Val20= Single submitter Inborn genetic diseases
p.Val240= Single submitter Inborn genetic diseases
p.Val302= Single submitter Inborn genetic diseases
p.Val336= Single submitter Inborn genetic diseases
p.Val36= Single submitter Inborn genetic diseases
p.Val37= Single submitter Inborn genetic diseases
p.Val42= Single submitter Inborn genetic diseases
p.Val49= Single submitter Inborn genetic diseases
p.Val82= Single submitter Inborn genetic diseases
p.Val90= Single submitter Inborn genetic diseases
c.780+10G>A No assertion criteria
c.*16G>A No assertion criteria PAX5-related disorder

Uncertain significance 242

c.1013-1G>A Multiple submitters leukemia, acute lymphoblastic, susceptibility to, 3
p.Ala308Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala376Thr Multiple submitters ⚠
p.Ala383Val Multiple submitters Inborn genetic diseases ⚠
p.Ala45Ser Multiple submitters Inborn genetic diseases ⚠
p.Arg122Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg239Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg305His Multiple submitters leukemia, acute lymphoblastic, susceptibility to, 3
p.Gln233Lys Multiple submitters Inborn genetic diseases ⚠
p.Gly202Asp Multiple submitters Inborn genetic diseases ⚠
p.Gly343Arg Multiple submitters ⚠
p.Ile114Val Multiple submitters Inborn genetic diseases ⚠
p.Leu228Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu234Pro Multiple submitters leukemia, acute lymphoblastic, susceptibility to, 3 ⚠
p.Met277Val Multiple submitters Inborn genetic diseases ⚠
p.Pro207Leu Multiple submitters ⚠
p.Pro321Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro321Ser Multiple submitters leukemia, acute lymphoblastic, susceptibility to, 3 ⚠
p.Pro34Leu Multiple submitters leukemia, acute lymphoblastic, susceptibility to, 3 ⚠
p.Pro361Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro8Ser Multiple submitters leukemia, acute lymphoblastic, susceptibility to, 3 ⚠
p.Ser247Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser339Asn Multiple submitters Inborn genetic diseases ⚠
p.Thr12Asn Multiple submitters Inborn genetic diseases ⚠
p.Thr285Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr303Ala Multiple submitters Inborn genetic diseases ⚠
p.Tyr351Asn Multiple submitters Inborn genetic diseases
p.Tyr388Cys Multiple submitters Inborn genetic diseases ⚠
p.Val293Met Multiple submitters Inborn genetic diseases ⚠
c.1018_1032del Single submitter acute lymphoblastic leukemia
c.780+5G>A Single submitter leukemia, acute lymphoblastic, susceptibility to, 3
c.780+5G>T Single submitter
c.781-7403G>A Single submitter
c.910+6G>A Single submitter
p.Ala120Ser Single submitter Inborn genetic diseases ⚠
p.Ala120Val Single submitter Inborn genetic diseases ⚠
p.Ala266Val Single submitter Inborn genetic diseases ⚠
p.Ala271Gly Single submitter Inborn genetic diseases ⚠
p.Ala271Pro Single submitter Inborn genetic diseases ⚠
p.Ala271Val Single submitter Inborn genetic diseases ⚠
p.Ala279Val Single submitter Inborn genetic diseases ⚠
p.Ala374Pro Single submitter Inborn genetic diseases ⚠
p.Ala374Val Single submitter Inborn genetic diseases ⚠
p.Ala376Gly Single submitter Inborn genetic diseases ⚠
p.Ala380Val Single submitter Inborn genetic diseases ⚠
p.Ala383Glu Single submitter Inborn genetic diseases
p.Ala385Ser Single submitter Inborn genetic diseases ⚠
p.Ala45Thr Single submitter Inborn genetic diseases ⚠
p.Ala45Val Single submitter Inborn genetic diseases ⚠
p.Arg104His Single submitter Inborn genetic diseases ⚠
p.Arg115Ser Single submitter Inborn genetic diseases ⚠
p.Arg117Gln Single submitter ⚠
p.Arg117Trp Single submitter Inborn genetic diseases ⚠
p.Arg11Gln Single submitter Inborn genetic diseases ⚠
p.Arg137Trp Single submitter ⚠
p.Arg217Thr Single submitter Inborn genetic diseases
p.Arg221Gln Single submitter ⚠
p.Arg221Pro Single submitter Inborn genetic diseases ⚠
p.Arg225Trp Single submitter ⚠
p.Arg239Leu Single submitter Inborn genetic diseases ⚠
p.Arg239Ser Single submitter Inborn genetic diseases ⚠
p.Arg243Lys Single submitter Inborn genetic diseases ⚠
p.Arg305Cys Single submitter Inborn genetic diseases ⚠
p.Arg31Gln Single submitter ⚠
p.Arg31Trp Single submitter ⚠
p.Arg359Ser Single submitter Inborn genetic diseases ⚠
p.Arg377Ter Single submitter neurodevelopmental disorder
p.Arg390Cys Single submitter ⚠
p.Arg390Gly Single submitter Inborn genetic diseases ⚠
p.Arg390His Single submitter leukemia, acute lymphoblastic, susceptibility to, 3 ⚠
p.Arg40Lys Single submitter Inborn genetic diseases ⚠
p.Arg56Lys Single submitter Inborn genetic diseases ⚠
p.Asn210Asp Single submitter Inborn genetic diseases ⚠
p.Asn362Asp Single submitter Inborn genetic diseases ⚠
p.Asp116Glu Single submitter Inborn genetic diseases ⚠
p.Asp127Ala Single submitter Inborn genetic diseases ⚠
p.Asp238Asn Single submitter Inborn genetic diseases ⚠
p.Asp275Asn Single submitter Inborn genetic diseases ⚠
p.Asp356Gly Single submitter Inborn genetic diseases ⚠
p.Asp35Gly Single submitter Inborn genetic diseases ⚠
p.Asp53Asn Single submitter Inborn genetic diseases ⚠
p.Cys124Tyr Single submitter Inborn genetic diseases ⚠
p.Gln223Lys Single submitter Inborn genetic diseases
p.Gln223Pro Single submitter Inborn genetic diseases ⚠
p.Gln22His Single submitter Inborn genetic diseases ⚠
p.Gln22Lys Single submitter Inborn genetic diseases ⚠
p.Gln231Arg Single submitter Inborn genetic diseases ⚠
p.Gln232Pro Single submitter Inborn genetic diseases ⚠
p.Gln244Arg Single submitter Inborn genetic diseases ⚠
p.Gln350Leu Single submitter Inborn genetic diseases ⚠
p.Glu205Asp Single submitter Inborn genetic diseases ⚠
p.Glu205Gln Single submitter Inborn genetic diseases ⚠
p.Glu235Lys Single submitter Inborn genetic diseases ⚠
p.Gly202Ala Single submitter Inborn genetic diseases ⚠
p.Gly211Asp Single submitter Inborn genetic diseases ⚠
p.Gly211Ser Single submitter Inborn genetic diseases ⚠
p.Gly216Ser Single submitter Inborn genetic diseases ⚠
p.Gly216Val Single submitter Inborn genetic diseases ⚠
p.Gly226Ala Single submitter Inborn genetic diseases ⚠
p.Gly24Ala Single submitter Inborn genetic diseases ⚠
p.Gly272Cys Single submitter Inborn genetic diseases ⚠
p.Gly290Arg Single submitter
p.Gly295Ser Single submitter Inborn genetic diseases ⚠
p.Gly314Arg Single submitter ⚠
p.Gly323Arg Single submitter Inborn genetic diseases ⚠
p.Gly325Asp Single submitter Inborn genetic diseases ⚠
p.Gly364Glu Single submitter Inborn genetic diseases ⚠
p.Gly367Ala Single submitter Inborn genetic diseases ⚠
p.Gly378Arg Single submitter Inborn genetic diseases ⚠
p.Gly70Ala Single submitter Inborn genetic diseases ⚠
p.Gly70Ser Single submitter Inborn genetic diseases ⚠
p.His245Arg Single submitter Inborn genetic diseases ⚠
p.His245Asn Single submitter Inborn genetic diseases ⚠
p.His318Arg Single submitter Inborn genetic diseases ⚠
p.His318Tyr Single submitter Inborn genetic diseases
p.His46Asn Single submitter Inborn genetic diseases ⚠
p.Ile249Ser Single submitter Inborn genetic diseases ⚠
p.Ile249Thr Single submitter Inborn genetic diseases ⚠
p.Ile256Met Single submitter Inborn genetic diseases ⚠
p.Ile256Ser Single submitter Inborn genetic diseases ⚠
p.Ile289Phe Single submitter ⚠
p.Ile289Thr Single submitter ⚠
p.Ile289Val Single submitter Inborn genetic diseases ⚠
p.Ile301Met Single submitter Inborn genetic diseases ⚠
p.Ile301Thr Single submitter ⚠
p.Ile301Val Single submitter Inborn genetic diseases ⚠
p.Ile54Val Single submitter Inborn genetic diseases ⚠
p.Ile78Asn Single submitter Inborn genetic diseases ⚠
p.Ile78Thr Single submitter Inborn genetic diseases ⚠
p.Leu214Phe Single submitter Inborn genetic diseases ⚠
p.Leu220Phe Single submitter Inborn genetic diseases
p.Leu220Pro Single submitter Inborn genetic diseases ⚠
p.Leu237Arg Single submitter Inborn genetic diseases ⚠
p.Leu270Pro Single submitter ⚠
p.Leu274Gln Single submitter Inborn genetic diseases ⚠
p.Leu281Pro Single submitter Inborn genetic diseases ⚠
p.Leu312Ile Single submitter Inborn genetic diseases ⚠
p.Leu3Val Single submitter Inborn genetic diseases ⚠
p.Lys103Ile Single submitter Inborn genetic diseases ⚠
p.Lys222Arg Single submitter Inborn genetic diseases ⚠
p.Lys79Asn Single submitter Inborn genetic diseases ⚠
p.Lys98Asn Single submitter Inborn genetic diseases ⚠
p.Met109Ile Single submitter Inborn genetic diseases ⚠
p.Met224Leu Single submitter Inborn genetic diseases ⚠
p.Met267Ile Single submitter Inborn genetic diseases
p.Met267Val Single submitter Inborn genetic diseases ⚠
p.Met277Leu Single submitter Inborn genetic diseases ⚠
p.Met277Thr Single submitter Inborn genetic diseases ⚠
p.Phe241Ser Single submitter Inborn genetic diseases ⚠
p.Phe250Val Single submitter Inborn genetic diseases ⚠
p.Pro107Ala Single submitter Inborn genetic diseases ⚠
p.Pro107Arg Single submitter Inborn genetic diseases ⚠
p.Pro107Ser Single submitter Inborn genetic diseases ⚠
p.Pro10Leu Single submitter ⚠
p.Pro207Ala Single submitter Inborn genetic diseases ⚠
p.Pro207Ser Single submitter Inborn genetic diseases ⚠
p.Pro209Ala Single submitter Inborn genetic diseases ⚠
p.Pro209Arg Single submitter Inborn genetic diseases ⚠
p.Pro209Leu Single submitter Inborn genetic diseases ⚠
p.Pro215Leu Single submitter ⚠
p.Pro255His Single submitter Inborn genetic diseases ⚠
p.Pro255Ser Single submitter Inborn genetic diseases ⚠
p.Pro284Leu Single submitter Inborn genetic diseases ⚠
p.Pro294Gln Single submitter Inborn genetic diseases ⚠
p.Pro296Arg Single submitter Inborn genetic diseases ⚠
p.Pro296Leu Single submitter leukemia, acute lymphoblastic, susceptibility to, 3 ⚠
p.Pro300Arg Single submitter Inborn genetic diseases
p.Pro300Ser Single submitter Inborn genetic diseases ⚠
p.Pro313Leu Single submitter Inborn genetic diseases ⚠
p.Pro320Arg Single submitter ⚠
p.Pro320Leu Single submitter Inborn genetic diseases
p.Pro320Ser Single submitter Inborn genetic diseases
p.Pro320Thr Single submitter Inborn genetic diseases
p.Pro321Thr Single submitter ⚠
p.Pro32Leu Single submitter ⚠
p.Pro330Arg Single submitter Inborn genetic diseases ⚠
p.Pro330Ser Single submitter Inborn genetic diseases ⚠
p.Pro337Thr Single submitter Inborn genetic diseases ⚠
p.Pro345Ser Single submitter Inborn genetic diseases ⚠
p.Pro345Thr Single submitter Inborn genetic diseases ⚠
p.Pro349Ser Single submitter Inborn genetic diseases ⚠
p.Pro369Ala Single submitter Inborn genetic diseases
p.Pro369Ser Single submitter Inborn genetic diseases
p.Pro382Ser Single submitter Inborn genetic diseases ⚠
p.Pro382Thr Single submitter Inborn genetic diseases ⚠
p.Pro8Leu Single submitter Inborn genetic diseases ⚠
p.Pro8Thr Single submitter Inborn genetic diseases ⚠
p.Pro93Arg Single submitter Inborn genetic diseases ⚠
p.Pro93Leu Single submitter Inborn genetic diseases ⚠
p.Pro93Ser Single submitter Inborn genetic diseases ⚠
p.Ser131Thr Single submitter ⚠
p.Ser13Thr Single submitter Inborn genetic diseases ⚠
p.Ser206Thr Single submitter Inborn genetic diseases ⚠
p.Ser206Tyr Single submitter Inborn genetic diseases ⚠
p.Ser213Ter Single submitter
p.Ser247Ala Single submitter Inborn genetic diseases ⚠
p.Ser298Thr Single submitter Inborn genetic diseases ⚠
p.Ser309Arg Single submitter Inborn genetic diseases ⚠
p.Ser339Arg Single submitter Inborn genetic diseases ⚠
p.Ser339Gly Single submitter Inborn genetic diseases ⚠
p.Ser344Arg Single submitter Inborn genetic diseases ⚠
p.Ser344Asn Single submitter Inborn genetic diseases ⚠
p.Ser357Phe Single submitter Inborn genetic diseases
p.Ser368Phe Single submitter Inborn genetic diseases ⚠
p.Ser368Pro Single submitter Inborn genetic diseases ⚠
p.Ser373Asn Single submitter Inborn genetic diseases ⚠
p.Ser66Asn Single submitter acute lymphoblastic leukemia ⚠
p.Thr128Ile Single submitter Inborn genetic diseases ⚠
p.Thr128Pro Single submitter Inborn genetic diseases ⚠
p.Thr15= Single submitter
p.Thr15Ala Single submitter Inborn genetic diseases ⚠
p.Thr15Ile Single submitter Inborn genetic diseases ⚠
p.Thr251Asn Single submitter ⚠
p.Thr253Ala Single submitter Inborn genetic diseases ⚠
p.Thr261Ala Single submitter Inborn genetic diseases ⚠
p.Thr261Asn Single submitter Inborn genetic diseases ⚠
p.Thr285Ala Single submitter ⚠
p.Thr285Ser Single submitter Inborn genetic diseases ⚠
p.Thr303Arg Single submitter Inborn genetic diseases ⚠
p.Thr310Ala Single submitter Inborn genetic diseases ⚠
p.Thr310Met Single submitter Inborn genetic diseases ⚠
p.Thr331Met Single submitter ⚠
p.Thr386Ala Single submitter Inborn genetic diseases ⚠
p.Thr92Ile Single submitter Inborn genetic diseases ⚠
p.Thr92Lys Single submitter Inborn genetic diseases ⚠
p.Thr9Ser Single submitter Inborn genetic diseases ⚠
p.Tyr246Phe Single submitter ⚠
p.Tyr264His Single submitter Inborn genetic diseases ⚠
p.Tyr299His Single submitter Inborn genetic diseases
p.Tyr370Cys Single submitter Inborn genetic diseases
p.Tyr371Cys Single submitter Inborn genetic diseases ⚠
p.Tyr7Asp Single submitter Inborn genetic diseases ⚠
p.Val132Ile Single submitter Inborn genetic diseases ⚠
p.Val208Met Single submitter Inborn genetic diseases ⚠
p.Val20Met Single submitter Inborn genetic diseases ⚠
p.Val319Ile Single submitter ⚠
p.Val336Met Single submitter Inborn genetic diseases ⚠
p.Val36Ala Single submitter ⚠
p.Val36Ile Single submitter Inborn genetic diseases ⚠
p.Val49Ala Single submitter Inborn genetic diseases ⚠
p.Val60Ile Single submitter Inborn genetic diseases ⚠
p.Val96Glu Single submitter Inborn genetic diseases ⚠