Total 58 pathogenic variants reported for Acute lymphoid leukemia 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_002485.5(NBN):c.511A>G (p.Ile171Val) SNV
Germline		 Chr8:89978293 Conflicting classifications of pathogenicity Leukemia, acute lymphoblastic, susceptibility to
Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia
not specified
Condition: not provided
Acute lymphoid leukemia
Hereditary cancer
NBN-related disorder
Carcinoma of colon
Hereditary breast ovarian cancer syndrome
Breast carcinoma		 Criteria Provided
Conflicting Classifications
 CA160981 rs_61754966

26 SubmittersRCV000007361RCV000115797RCV000197512RCV000007360RCV000121618RCV000589577RCV000490266RCV003492288RCV003891430RCV001358233RCV001030566RCV001262350
NM_004119.3(FLT3):c.2504A>T (p.Asp835Val) SNV
Somatic		 Chr13:28018504 Pathogenic Acute myeloid leukemia
Acute lymphoid leukemia		 No Assertion Criteria Provided
 CA126344 rs_121909646

2 SubmittersRCV000017660RCV000017661
NM_004119.3(FLT3):c.2503G>T (p.Asp835Tyr) SNV
Somatic		 Chr13:28018505 Pathogenic Acute lymphoid leukemia
Acute myeloid leukemia		 No Assertion Criteria Provided
 CA126347 rs_121913488

3 SubmittersRCV000017666RCV000017665
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser) SNV
Germline		 Chr8:89955418 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
not specified
Aplastic anemia
Acute lymphoid leukemia
Microcephaly, normal intelligence and immunodeficiency
Malignant tumor of breast
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA230729 rs_104895032

24 SubmittersRCV000114875RCV000115780RCV000123203RCV000212745RCV000515275RCV001358304RCV000757930
NM_002485.5(NBN):c.628G>T (p.Val210Phe) SNV
Germline		 Chr8:89971247 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Aplastic anemia
Acute lymphoid leukemia
Microcephaly, normal intelligence and immunodeficiency
Microcephaly, normal intelligence and immunodeficiency
Malignant tumor of breast
NBN-related disorder		 Criteria Provided
Conflicting Classifications
 CA160993 rs_61754796

23 SubmittersRCV000121622RCV000115801RCV000114880RCV000515300RCV000168062RCV001358247RCV003891593
NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr) SNV
Germline/somatic		 Chr9:21974682 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial melanoma
Condition: not provided
Melanoma-pancreatic cancer syndrome
Osteoblastic osteosarcoma
not specified
Melanoma and neural system tumor syndrome
Melanoma-pancreatic cancer syndrome
Melanoma and neural system tumor syndrome
CDKN2A-related disorder
Acute lymphoid leukemia		 Criteria Provided
Conflicting Classifications
 CA287160 rs_199907548

15 SubmittersRCV000115331RCV000122945RCV000212398RCV000412396RCV000761151RCV001001912RCV001292944RCV001535568RCV003891607RCV003444104
NM_002485.5(NBN):c.1999T>C (p.Ser667Pro) SNV
Germline		 Chr8:89946211 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia
Acute lymphoid leukemia
Aplastic anemia
not specified
NBN-related disorder		 Criteria Provided
Conflicting Classifications
 CA287913 rs_587780091

13 SubmittersRCV000115786RCV000230585RCV000212753RCV000515337RCV001328956RCV001778709RCV003915124
NM_002485.5(NBN):c.425A>G (p.Asn142Ser) SNV
Germline		 Chr8:89980789 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Microcephaly, normal intelligence and immunodeficiency
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia
Acute lymphoid leukemia
Condition: not provided
Malignant tumor of breast
Hereditary cancer		 Criteria Provided
Conflicting Classifications
 CA160978 rs_769414

14 SubmittersRCV000115794RCV000121617RCV000168260RCV000515292RCV000589414RCV001355243RCV003492491
NM_002485.5(NBN):c.456G>A (p.Met152Ile) SNV
Germline		 Chr8:89980758 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
Aplastic anemia
Acute lymphoid leukemia
Microcephaly, normal intelligence and immunodeficiency
not specified
Malignant tumor of breast
Aplastic anemia		 Criteria Provided
Conflicting Classifications
 CA287934 rs_201816949

18 SubmittersRCV000115795RCV000197783RCV000509203RCV000515395RCV000781635RCV001356300RCV003467061
NM_002485.5(NBN):c.505C>T (p.Arg169Cys) SNV
Germline		 Chr8:89978299 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
Microcephaly, normal intelligence and immunodeficiency
Acute lymphoid leukemia
Aplastic anemia
Hereditary breast ovarian cancer syndrome
not specified
NBN-related disorder		 Criteria Provided
Conflicting Classifications
 CA287937 rs_182756889

13 SubmittersRCV000115796RCV000123218RCV000587269RCV000764786RCV001030567RCV001549273RCV003389690
NM_002485.5(NBN):c.595C>T (p.Pro199Ser) SNV
Germline		 Chr8:89971280 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Microcephaly, normal intelligence and immunodeficiency
Microcephaly, normal intelligence and immunodeficiency
Acute lymphoid leukemia
Aplastic anemia		 Criteria Provided
Conflicting Classifications
 CA287940 rs_587780097

10 SubmittersRCV000115798RCV000235189RCV000461206RCV000515203
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter) SNV
Germline		 Chr8:89947835 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia
Acute lymphoid leukemia
Aplastic anemia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA168703 rs_587782545

12 SubmittersRCV000131755RCV000227700RCV000219708RCV000763606RCV003467185
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter) SNV
Germline		 Chr8:89943297 Pathogenic/Likely pathogenic Condition: not provided
Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Aplastic anemia
Acute lymphoid leukemia
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA299657 rs_730881864

15 SubmittersRCV000160804RCV000204431RCV000215628RCV000515171RCV003467267
NM_002485.5(NBN):c.1030C>T (p.Gln344Ter) SNV
Germline		 Chr8:89958819 Pathogenic/Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Acute lymphoid leukemia
Aplastic anemia
Aplastic anemia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA274767 rs_767215758

11 SubmittersRCV000170448RCV000220210RCV000446931RCV000763607RCV003474919
NM_001987.5(ETV6):c.1046T>C (p.Leu349Pro) SNV
Germline		 Chr12:11884481 Likely pathogenic Acute lymphoid leukemia
Thrombocytopenia
Thrombocytopenia
Inborn genetic diseases		 Criteria Provided
Single Submitter
 CA277990 rs_786205155

2 SubmittersRCV000170464RCV000170465RCV004020020
NM_002485.5(NBN):c.1747C>T (p.Gln583Ter) SNV
Germline		 Chr8:89953342 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
Aplastic anemia
Acute lymphoid leukemia
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350525 rs_864622143

7 SubmittersRCV000217030RCV000206506RCV001753608RCV003468931RCV002478725
NM_002485.5(NBN):c.897-2A>T SNV
Germline		 Chr8:89964509 Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Condition: not provided
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia
Acute lymphoid leukemia
NBN-related disorder
Aplastic anemia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA348947 rs_864622090

9 SubmittersRCV000204744RCV000222760RCV001567181RCV002057048RCV003401102RCV003474977
NM_002485.5(NBN):c.340G>T (p.Val114Phe) SNV
Germline		 Chr8:89980874 Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
not specified
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia
Acute lymphoid leukemia
Condition: not provided
Aplastic anemia		 Criteria Provided
Conflicting Classifications
 CA350859 rs_771034958

9 SubmittersRCV000206877RCV000220601RCV000486552RCV000764790RCV000767209RCV003474978
NM_002485.5(NBN):c.265C>T (p.Arg89Ter) SNV
Germline		 Chr8:89981430 Pathogenic/Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Condition: not provided
Acute lymphoid leukemia
Aplastic anemia
Microcephaly, normal intelligence and immunodeficiency
Gastric cancer
Aplastic anemia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16041212 rs_1057516320

9 SubmittersRCV000410234RCV001176293RCV001782863RCV002504201RCV003168586RCV003470325
NM_002485.5(NBN):c.1754A>G (p.Glu585Gly) SNV
Germline		 Chr8:89953335 Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast
not specified
Microcephaly, normal intelligence and immunodeficiency
Acute lymphoid leukemia
Aplastic anemia		 Criteria Provided
Conflicting Classifications
 CA4802685 rs_763926389

9 SubmittersRCV000461649RCV000567576RCV000679454RCV001358087RCV002282161RCV002475888
NM_002485.5(NBN):c.481-2A>T SNV
Germline		 Chr8:89978325 Pathogenic/Likely pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia
Acute lymphoid leukemia
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4802955 rs_751567476

9 SubmittersRCV000523496RCV000569604RCV000707500RCV002497023RCV003470656
NM_002485.5(NBN):c.1279C>A (p.Pro427Thr) SNV
Germline		 Chr8:89955401 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia
Microcephaly, normal intelligence and immunodeficiency
Acute lymphoid leukemia		 Criteria Provided
Conflicting Classifications
 CA371656207 rs_1554559171

4 SubmittersRCV000569911RCV001054209RCV002491138
NM_016734.3(PAX5):c.239C>G (p.Pro80Arg) SNV
Somatic		 Chr9:37015168 Likely pathogenic Acute lymphoid leukemia Criteria Provided
Single Submitter

2 SubmittersRCV000766127
NM_002485.5(NBN):c.390A>G (p.Gln130=) SNV
Germline		 Chr8:89980824 Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia
Acute lymphoid leukemia
Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_146150499

6 SubmittersRCV000768028RCV000799906RCV001021414RCV002271580RCV001619837
NM_002485.5(NBN):c.1106C>G (p.Ser369Ter) SNV
Germline		 Chr8:89958743 Pathogenic/Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia
Acute lymphoid leukemia
Aplastic anemia
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2129744741

4 SubmittersRCV001386835RCV002476731RCV003469725RCV004037684
NM_006060.6(IKZF1):c.530T>C (p.Leu177Pro) SNV
Somatic		 Chr7:50382648 Likely pathogenic Pancytopenia due to IKZF1 mutations
Acute lymphoid leukemia		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2153477847

2 SubmittersRCV001706897RCV003444111
NM_006060.6(IKZF1):c.247C>T (p.Arg83Ter) SNV
Germline/somatic		 Chr7:50376619 Pathogenic Condition: not provided
Acute lymphoid leukemia		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2153469119

2 SubmittersRCV001837716RCV003444112
NM_006060.6(IKZF1):c.161-8275C>T SNV
Germline		 Chr7:50368258 Conflicting classifications of pathogenicity Acute lymphoid leukemia
Condition: not provided		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003325271RCV003883979
NM_016734.3(PAX5):c.77T>G (p.Val26Gly) SNV
Somatic		 Chr9:37020771 Likely pathogenic Acute lymphoid leukemia Criteria Provided
Single Submitter

1 SubmittersRCV003444115
NM_016734.3(PAX5):c.401C>G (p.Ser134Cys) SNV
Somatic		 Chr9:37015006 Likely pathogenic Acute lymphoid leukemia Criteria Provided
Single Submitter

1 SubmittersRCV003444116
NM_016734.3(PAX5):c.613G>T (p.Glu205Ter) SNV
Somatic		 Chr9:36966716 Likely pathogenic Acute lymphoid leukemia Criteria Provided
Single Submitter

1 SubmittersRCV003444119
NM_006060.6(IKZF1):c.475A>T (p.Asn159Tyr) SNV
Somatic		 Chr7:50382593 Likely pathogenic Acute lymphoid leukemia Criteria Provided
Single Submitter

1 SubmittersRCV003444121
NM_006060.6(IKZF1):c.271A>T (p.Lys91Ter) SNV
Somatic		 Chr7:50376643 Likely pathogenic Acute lymphoid leukemia Criteria Provided
Single Submitter

1 SubmittersRCV003444122
NM_016734.3(PAX5):c.46+1G>A SNV
Somatic		 Chr9:37033985 Likely pathogenic Acute lymphoid leukemia Criteria Provided
Single Submitter

1 SubmittersRCV003444124
NM_006060.6(IKZF1):c.450C>A (p.Cys150Ter) SNV
Somatic		 Chr7:50382568 Likely pathogenic Acute lymphoid leukemia Criteria Provided
Single Submitter

1 SubmittersRCV003444125
NM_016734.3(PAX5):c.1073G>A (p.Trp358Ter) SNV
Somatic		 Chr9:36846869 Likely pathogenic Acute lymphoid leukemia Criteria Provided
Single Submitter

1 SubmittersRCV003444131
NM_016734.3(PAX5):c.388C>A (p.Pro130Thr) SNV
Somatic		 Chr9:37015019 Likely pathogenic Acute lymphoid leukemia Criteria Provided
Single Submitter

1 SubmittersRCV003444138
NM_016734.3(PAX5):c.967G>T (p.Gly323Ter) SNV
Somatic		 Chr9:36882049 Likely pathogenic Acute lymphoid leukemia Criteria Provided
Single Submitter

1 SubmittersRCV003444139