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	Aplastic anemia Leukemia, acute lymphoblastic, susceptibility to Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency not specified Acute lymphoid leukemia Condition: not provided Hereditary breast ovarian cancer syndrome Breast carcinoma Carcinoma of colon Hereditary cancer NBN-related disorder Diffuse midline glioma, H3 K27-altered Pediatric high-grade glioma	Criteria Provided Conflicting Classifications	CA160981	rs_61754966	28 SubmittersRCV000007360 RCV000007361 RCV000115797 RCV000197512 RCV000121618 RCV000490266 RCV000589577 RCV001030566 RCV001262350 RCV001358233 RCV003492288 RCV003891430 RCV004776268 RCV004776269
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	1 SubmittersRCV000017660 RCV000017661
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	2 SubmittersRCV000017666 RCV000017665
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 Microcephaly, normal intelligence and immunodeficiency Aplastic anemia Acute lymphoid leukemia Familial cancer of breast Malignant tumor of breast	Criteria Provided Conflicting Classifications	CA230729	rs_104895032	24 SubmittersRCV000114875 RCV000115780 RCV000123203 RCV000212745 RCV000515275 RCV000757930 RCV001358304
NM_002485.5(NBN):c.628G>T (p.Val210Phe)	SNV Germline	Chr8:89971247	Conflicting classifications of pathogenicity	Condition: not provided not specified Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Aplastic anemia Acute lymphoid leukemia Microcephaly, normal intelligence and immunodeficiency Malignant tumor of breast NBN-related disorder Hereditary cancer	Criteria Provided Conflicting Classifications	CA160993	rs_61754796	23 SubmittersRCV000114880 RCV000121622 RCV000168062 RCV000115801 RCV000515300 RCV001358247 RCV003891593 RCV005234996
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 Acute lymphoid leukemia Melanoma-pancreatic cancer syndrome Melanoma, cutaneous malignant, susceptibility to, 2 Melanoma and neural system tumor syndrome CDKN2A-related disorder	Criteria Provided Conflicting Classifications	CA287160	rs_199907548	17 SubmittersRCV000115331 RCV000122945 RCV000212398 RCV000412396 RCV000761151 RCV001001912 RCV001292944 RCV001535568 RCV003444104 RCV005042211 RCV003891607
NM_002485.5(NBN):c.1711A>G (p.Lys571Glu)	SNV Germline	Chr8:89953378	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Microcephaly, normal intelligence and immunodeficiency Aplastic anemia Acute lymphoid leukemia	Criteria Provided Conflicting Classifications	CA287907	rs_587780090	6 SubmittersRCV000115783 RCV000216588 RCV000685440 RCV005042217
NM_002485.5(NBN):c.1720T>A (p.Leu574Ile)	SNV Germline	Chr8:89953369	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency not specified Condition: not provided Malignant tumor of breast Acute lymphoid leukemia Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA160969	rs_142334798	19 SubmittersRCV000115784 RCV000123208 RCV000121614 RCV000587365 RCV001354070 RCV005416267
NM_002485.5(NBN):c.1999T>C (p.Ser667Pro)	SNV Germline	Chr8:89946211	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Aplastic anemia Acute lymphoid leukemia Microcephaly, normal intelligence and immunodeficiency Condition: not provided Microcephaly, normal intelligence and immunodeficiency Aplastic anemia NBN-related disorder not specified	Criteria Provided Conflicting Classifications	CA287913	rs_587780091	13 SubmittersRCV000115786 RCV000515337 RCV000212753 RCV000230585 RCV001328956 RCV003915124 RCV001778709
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 Aplastic anemia Microcephaly, normal intelligence and immunodeficiency Acute lymphoid leukemia Condition: not provided Malignant tumor of breast Hereditary cancer	Criteria Provided Conflicting Classifications	CA160978	rs_769414	14 SubmittersRCV000115794 RCV000121617 RCV000168260 RCV000515292 RCV000589414 RCV001355243 RCV003492491
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 not specified Condition: not provided Malignant tumor of breast Acute lymphoid leukemia Aplastic anemia Microcephaly, normal intelligence and immunodeficiency Aplastic anemia	Criteria Provided Conflicting Classifications	CA287934	rs_201816949	18 SubmittersRCV000115795 RCV000197783 RCV000781635 RCV000509203 RCV001356300 RCV000515395 RCV003467061
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 Microcephaly, normal intelligence and immunodeficiency Aplastic anemia Acute lymphoid leukemia Condition: not provided Hereditary breast ovarian cancer syndrome not specified NBN-related disorder	Criteria Provided Conflicting Classifications	CA287937	rs_182756889	13 SubmittersRCV000115796 RCV000123218 RCV000764786 RCV000587269 RCV001030567 RCV001549273 RCV003389690
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 Aplastic anemia Acute lymphoid leukemia	Criteria Provided Conflicting Classifications	CA287940	rs_587780097	10 SubmittersRCV000115798 RCV000235189 RCV000461206 RCV000515203
NM_002485.5(NBN):c.127C>T (p.Arg43Ter)	SNV Germline	Chr8:89982766	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided Aplastic anemia Microcephaly, normal intelligence and immunodeficiency Aplastic anemia Acute lymphoid leukemia Gastric cancer	Criteria Provided Conflicting Classifications	CA167743	rs_200287925	14 SubmittersRCV000131193 RCV000409406 RCV000489509 RCV003467167 RCV005042269 RCV003162586
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter)	SNV Germline	Chr8:89947835	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Aplastic anemia Microcephaly, normal intelligence and immunodeficiency Acute lymphoid leukemia Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts	CA168703	rs_587782545	13 SubmittersRCV000219708 RCV000131755 RCV000227700 RCV003467185 RCV000763606
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 Microcephaly, normal intelligence and immunodeficiency Aplastic anemia Acute lymphoid leukemia Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts	CA299657	rs_730881864	17 SubmittersRCV000160804 RCV000204431 RCV000215628 RCV000515171 RCV003467267
NM_002485.5(NBN):c.2071-1G>C	SNV Germline	Chr8:89943367	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided Aplastic anemia Aplastic anemia Acute lymphoid leukemia Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA191166	rs_786201965	9 SubmittersRCV000164521 RCV000409665 RCV000483747 RCV003474861 RCV005042329
NM_002485.5(NBN):c.1723G>T (p.Glu575Ter)	SNV Germline	Chr8:89953366	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Acute lymphoid leukemia Microcephaly, normal intelligence and immunodeficiency Aplastic anemia Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts	CA190280	rs_786201745	6 SubmittersRCV000164194 RCV000456402 RCV005042327 RCV003462127
NM_002485.5(NBN):c.37+1G>A	SNV Germline	Chr8:89984524	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Microcephaly, normal intelligence and immunodeficiency Breast and/or ovarian cancer Breast-ovarian cancer, familial, susceptibility to, 1 Aplastic anemia Acute lymphoid leukemia Microcephaly, normal intelligence and immunodeficiency Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts	CA194448	rs_574673404	13 SubmittersRCV000165888 RCV000708614 RCV000470841 RCV001270989 RCV001310161 RCV003468760 RCV005042333
NM_002485.5(NBN):c.1030C>T (p.Gln344Ter)	SNV Germline	Chr8:89958819	Pathogenic	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Acute lymphoid leukemia Microcephaly, normal intelligence and immunodeficiency Aplastic anemia Condition: not provided Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts	CA274767	rs_767215758	11 SubmittersRCV000170448 RCV000446931 RCV000763607 RCV000220210 RCV003474919
NM_002485.5(NBN):c.842T>G (p.Leu281Ter)	SNV Germline	Chr8:89970418	Pathogenic	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Acute lymphoid leukemia Microcephaly, normal intelligence and immunodeficiency Aplastic anemia Aplastic anemia NBN-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA334800	rs_786205135	9 SubmittersRCV000170447 RCV000772328 RCV005042367 RCV003468849 RCV003398875
NM_001987.5(ETV6):c.1046T>C (p.Leu349Pro)	SNV Germline	Chr12:11884481	Likely pathogenic	Thrombocytopenia Thrombocytopenia Acute lymphoid leukemia Inborn genetic diseases	Criteria Provided Single Submitter	CA277990	rs_786205155	2 SubmittersRCV000170465 RCV000170464 RCV004020020
NM_002485.5(NBN):c.1747C>T (p.Gln583Ter)	SNV Germline	Chr8:89953342	Pathogenic/Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Condition: not provided Aplastic anemia Microcephaly, normal intelligence and immunodeficiency Acute lymphoid leukemia Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts	CA350525	rs_864622143	7 SubmittersRCV000206506 RCV000217030 RCV001753608 RCV002478725 RCV003468931
NM_002485.5(NBN):c.897-2A>T	SNV Germline	Chr8:89964509	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Aplastic anemia Microcephaly, normal intelligence and immunodeficiency Aplastic anemia Acute lymphoid leukemia Condition: not provided NBN-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA348947	rs_864622090	10 SubmittersRCV000204744 RCV000222760 RCV003474977 RCV002057048 RCV001567181 RCV003401102
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 Condition: not provided Microcephaly, normal intelligence and immunodeficiency Acute lymphoid leukemia Aplastic anemia Aplastic anemia	Criteria Provided Conflicting Classifications	CA350859	rs_771034958	9 SubmittersRCV000206877 RCV000220601 RCV000486552 RCV000767209 RCV000764790 RCV003474978
NM_002485.5(NBN):c.2184+1G>T	SNV Germline	Chr8:89943252	Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Microcephaly, normal intelligence and immunodeficiency Aplastic anemia Acute lymphoid leukemia Microcephaly, normal intelligence and immunodeficiency Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts	CA10578743	rs_756363734	10 SubmittersRCV000222999 RCV000478822 RCV000411514 RCV003469077 RCV005049492
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 Microcephaly, normal intelligence and immunodeficiency Aplastic anemia Gastric cancer Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts	CA16041212	rs_1057516320	9 SubmittersRCV000410234 RCV001176293 RCV001782863 RCV002504201 RCV003168586 RCV003470325
NM_002485.5(NBN):c.1843T>C (p.Ser615Pro)	SNV Germline	Chr8:89953246	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Condition: not provided not specified Aplastic anemia NBN-related disorder Aplastic anemia Microcephaly, normal intelligence and immunodeficiency Acute lymphoid leukemia	Criteria Provided Conflicting Classifications	CA4802679	rs_746632073	9 SubmittersRCV000471606 RCV000569351 RCV000483350 RCV001290536 RCV003476116 RCV004745405 RCV005398637
NM_002485.5(NBN):c.1754A>G (p.Glu585Gly)	SNV Germline	Chr8:89953335	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Condition: not provided Hereditary cancer-predisposing syndrome Aplastic anemia Microcephaly, normal intelligence and immunodeficiency Acute lymphoid leukemia Malignant tumor of breast not specified	Criteria Provided Conflicting Classifications	CA4802685	rs_763926389	9 SubmittersRCV000461649 RCV000679454 RCV000567576 RCV002475888 RCV001358087 RCV002282161
NM_002485.5(NBN):c.481-2A>T	SNV Germline	Chr8:89978325	Pathogenic/Likely pathogenic	Condition: not provided Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Aplastic anemia Microcephaly, normal intelligence and immunodeficiency Acute lymphoid leukemia Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts	CA4802955	rs_751567476	9 SubmittersRCV000523496 RCV000707500 RCV000569604 RCV002497023 RCV003470656
NM_002485.5(NBN):c.2194C>T (p.Gln732Ter)	SNV Germline	Chr8:89937066	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Aplastic anemia Acute lymphoid leukemia Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA371674821	rs_1554554265	3 SubmittersRCV000552881 RCV002431579 RCV005044802
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 Microcephaly, normal intelligence and immunodeficiency Acute lymphoid leukemia Aplastic anemia	Criteria Provided Conflicting Classifications	CA371656207	rs_1554559171	4 SubmittersRCV000569911 RCV001054209 RCV002491138
NM_002485.5(NBN):c.1502G>A (p.Trp501Ter)	SNV Germline	Chr8:89953587	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Microcephaly, normal intelligence and immunodeficiency Aplastic anemia Acute lymphoid leukemia Microcephaly, normal intelligence and immunodeficiency Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts	CA371655727	rs_1554558472	7 SubmittersRCV000568444 RCV000657733 RCV001005050 RCV001388337 RCV004569121 RCV005044839
NM_002485.5(NBN):c.1125-2A>G	SNV Germline	Chr8:89955557	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency Acute lymphoid leukemia Aplastic anemia	Criteria Provided Single Submitter		rs_1554559373	1 SubmittersRCV005051712
NM_002485.5(NBN):c.7A>T (p.Lys3Ter)	SNV Germline	Chr8:89984555	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Aplastic anemia Acute lymphoid leukemia Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Multiple Submitters No Conflicts	CA4803108	rs_779098734	4 SubmittersRCV000581960 RCV000707330 RCV005044868
NM_016734.3(PAX5):c.239C>G (p.Pro80Arg)	SNV Somatic	Chr9:37015168	Likely pathogenic	Acute lymphoid leukemia	Criteria Provided Single Submitter	CA373488100	rs_2494512979	2 SubmittersRCV000766127
NM_002485.5(NBN):c.390A>G (p.Gln130=)	SNV Germline	Chr8:89980824	Conflicting classifications of pathogenicity	Aplastic anemia Microcephaly, normal intelligence and immunodeficiency Acute lymphoid leukemia Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA4802988	rs_146150499	6 SubmittersRCV000768028 RCV000799906 RCV001021414 RCV002271580 RCV001619837
NM_002485.5(NBN):c.1432T>A (p.Cys478Ser)	SNV Germline	Chr8:89953657	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	CA371655861	rs_1199013619	5 SubmittersRCV000773787 RCV001067584 RCV005047024
NM_002485.5(NBN):c.896+1G>A	SNV Germline	Chr8:89970363	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency Aplastic anemia Gastric cancer Microcephaly, normal intelligence and immunodeficiency Aplastic anemia Acute lymphoid leukemia	Criteria Provided Multiple Submitters No Conflicts	CA371658137	rs_778306619	4 SubmittersRCV001873158 RCV003465700 RCV003166060 RCV005049686
NM_002485.5(NBN):c.38-2A>G	SNV Germline	Chr8:89982857	Likely pathogenic	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Aplastic anemia Microcephaly, normal intelligence and immunodeficiency Aplastic anemia Acute lymphoid leukemia	Criteria Provided Multiple Submitters No Conflicts	CA4803066	rs_771475965	5 SubmittersRCV000775396 RCV001067027 RCV003465698 RCV005047025
NM_002485.5(NBN):c.1327A>T (p.Lys443Ter)	SNV Germline	Chr8:89955353	Pathogenic/Likely pathogenic	Aplastic anemia Aplastic anemia Microcephaly, normal intelligence and immunodeficiency Acute lymphoid leukemia Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Multiple Submitters No Conflicts	CA371656107	rs_1554559094	3 SubmittersRCV003467379 RCV005049697 RCV000799574
NM_002485.5(NBN):c.1089C>G (p.Tyr363Ter)	SNV Germline	Chr8:89958760	Pathogenic	Microcephaly, normal intelligence and immunodeficiency Aplastic anemia Microcephaly, normal intelligence and immunodeficiency Acute lymphoid leukemia Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA371656634	rs_121908974	4 SubmittersRCV001800916 RCV005047201 RCV001009876
NM_002485.5(NBN):c.429G>A (p.Trp143Ter)	SNV Germline	Chr8:89980785	Pathogenic/Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency Aplastic anemia Acute lymphoid leukemia Aplastic anemia Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Multiple Submitters No Conflicts	CA371661723	rs_1812023981	4 SubmittersRCV001061415 RCV003462589 RCV005047271
NM_002485.5(NBN):c.172-1G>T	SNV Germline	Chr8:89981524	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency Microcephaly, normal intelligence and immunodeficiency Aplastic anemia Acute lymphoid leukemia	Criteria Provided Multiple Submitters No Conflicts	CA371662651	rs_1391598284	2 SubmittersRCV001378799 RCV005040241
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 Acute lymphoid leukemia Aplastic anemia Hereditary cancer-predisposing syndrome Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts	CA371656597	rs_2129744741	5 SubmittersRCV001386835 RCV002476731 RCV004037684 RCV003469725
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	CA367531196	rs_2153477847	2 SubmittersRCV001706897 RCV003444111
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	CA367527128	rs_2153469119	2 SubmittersRCV001837716 RCV003444112
NM_002485.5(NBN):c.1168G>T (p.Glu390Ter)	SNV Germline	Chr8:89955512	Pathogenic/Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Aplastic anemia Acute lymphoid leukemia Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Multiple Submitters No Conflicts	CA371656443	rs_2129721628	3 SubmittersRCV001960653 RCV003289305 RCV005042594
NM_002485.5(NBN):c.1287T>A (p.Tyr429Ter)	SNV Germline	Chr8:89955393	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Aplastic anemia Aplastic anemia Acute lymphoid leukemia Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Multiple Submitters No Conflicts	CA371656192	rs_1554559152	4 SubmittersRCV002383218 RCV003094921 RCV004572399 RCV005050571
NM_006060.6(IKZF1):c.161-8275C>T	SNV Germline	Chr7:50368258	Conflicting classifications of pathogenicity	Acute lymphoid leukemia Condition: not provided IKZF1-related disorder	Criteria Provided Conflicting Classifications	CA158208169	rs_541802498	3 SubmittersRCV003325271 RCV003883979 RCV004753674
NM_016734.3(PAX5):c.77T>G (p.Val26Gly)	SNV Somatic	Chr9:37020771	Likely pathogenic	Acute lymphoid leukemia	Criteria Provided Single Submitter	CA193163991	rs_926053251	1 SubmittersRCV003444115
NM_016734.3(PAX5):c.401C>G (p.Ser134Cys)	SNV Somatic	Chr9:37015006	Likely pathogenic	Acute lymphoid leukemia	Criteria Provided Single Submitter	CA373487738	rs_2132470416	1 SubmittersRCV003444116
NM_016734.3(PAX5):c.613G>T (p.Glu205Ter)	SNV Somatic	Chr9:36966716	Likely pathogenic	Acute lymphoid leukemia	Criteria Provided Single Submitter	CA373487029	rs_1588104877	1 SubmittersRCV003444119
NM_006060.6(IKZF1):c.475A>T (p.Asn159Tyr)	SNV Somatic	Chr7:50382593	Likely pathogenic	Acute lymphoid leukemia	Criteria Provided Single Submitter	CA367530852	rs_2153477560	1 SubmittersRCV003444121
NM_006060.6(IKZF1):c.271A>T (p.Lys91Ter)	SNV Somatic	Chr7:50376643	Likely pathogenic	Acute lymphoid leukemia	Criteria Provided Single Submitter	CA367527335	rs_2538096964	1 SubmittersRCV003444122
NM_016734.3(PAX5):c.46+1G>A	SNV Somatic	Chr9:37033985	Likely pathogenic	Acute lymphoid leukemia	Criteria Provided Single Submitter	CA373486807	rs_1841274813	1 SubmittersRCV003444124
NM_006060.6(IKZF1):c.450C>A (p.Cys150Ter)	SNV Somatic	Chr7:50382568	Likely pathogenic	Acute lymphoid leukemia	Criteria Provided Single Submitter	CA367530697	rs_772322516	1 SubmittersRCV003444125
NM_016734.3(PAX5):c.1073G>A (p.Trp358Ter)	SNV Somatic	Chr9:36846869	Likely pathogenic	Acute lymphoid leukemia	Criteria Provided Single Submitter	CA373486217	rs_2131591339	1 SubmittersRCV003444131
NM_016734.3(PAX5):c.388C>A (p.Pro130Thr)	SNV Somatic	Chr9:37015019	Likely pathogenic	Acute lymphoid leukemia	Criteria Provided Single Submitter	CA373487766	rs_2132470584	1 SubmittersRCV003444138
NM_016734.3(PAX5):c.967G>T (p.Gly323Ter)	SNV Somatic	Chr9:36882049	Likely pathogenic	Acute lymphoid leukemia	Criteria Provided Single Submitter	CA373487157	rs_750194822	1 SubmittersRCV003444139
NM_002485.5(NBN):c.72C>G (p.Tyr24Ter)	SNV Germline	Chr8:89982821	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency Acute lymphoid leukemia Aplastic anemia	Criteria Provided Single Submitter			1 SubmittersRCV005043448

SNV
Germline

Chr8:89978293

Conflicting classifications of pathogenicity

Aplastic anemia
Leukemia, acute lymphoblastic, susceptibility to
Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
not specified
Acute lymphoid leukemia
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast carcinoma
Carcinoma of colon
Hereditary cancer
NBN-related disorder
Diffuse midline glioma, H3 K27-altered
Pediatric high-grade glioma

Criteria Provided
Conflicting Classifications

CA160981

rs_61754966

28 SubmittersRCV000007360 RCV000007361 RCV000115797 RCV000197512 RCV000121618 RCV000490266 RCV000589577 RCV001030566 RCV001262350 RCV001358233 RCV003492288 RCV003891430 RCV004776268 RCV004776269

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

1 SubmittersRCV000017660 RCV000017661

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

2 SubmittersRCV000017666 RCV000017665

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
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia
Acute lymphoid leukemia
Familial cancer of breast
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA230729

rs_104895032

24 SubmittersRCV000114875 RCV000115780 RCV000123203 RCV000212745 RCV000515275 RCV000757930 RCV001358304

NM_002485.5(NBN):c.628G>T (p.Val210Phe)

SNV
Germline

Chr8:89971247

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Aplastic anemia
Acute lymphoid leukemia
Microcephaly, normal intelligence and immunodeficiency
Malignant tumor of breast
NBN-related disorder
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA160993

rs_61754796

23 SubmittersRCV000114880 RCV000121622 RCV000168062 RCV000115801 RCV000515300 RCV001358247 RCV003891593 RCV005234996

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
Acute lymphoid leukemia
Melanoma-pancreatic cancer syndrome
Melanoma, cutaneous malignant, susceptibility to, 2
Melanoma and neural system tumor syndrome
CDKN2A-related disorder

Criteria Provided
Conflicting Classifications

CA287160

rs_199907548

17 SubmittersRCV000115331 RCV000122945 RCV000212398 RCV000412396 RCV000761151 RCV001001912 RCV001292944 RCV001535568 RCV003444104 RCV005042211 RCV003891607

NM_002485.5(NBN):c.1711A>G (p.Lys571Glu)

SNV
Germline

Chr8:89953378

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia
Acute lymphoid leukemia

Criteria Provided
Conflicting Classifications

CA287907

rs_587780090

6 SubmittersRCV000115783 RCV000216588 RCV000685440 RCV005042217

NM_002485.5(NBN):c.1720T>A (p.Leu574Ile)

SNV
Germline

Chr8:89953369

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
not specified
Condition: not provided
Malignant tumor of breast
Acute lymphoid leukemia
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA160969

rs_142334798

19 SubmittersRCV000115784 RCV000123208 RCV000121614 RCV000587365 RCV001354070 RCV005416267

NM_002485.5(NBN):c.1999T>C (p.Ser667Pro)

SNV
Germline

Chr8:89946211

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Aplastic anemia
Acute lymphoid leukemia
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia
NBN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA287913

rs_587780091

13 SubmittersRCV000115786 RCV000515337 RCV000212753 RCV000230585 RCV001328956 RCV003915124 RCV001778709

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
Aplastic anemia
Microcephaly, normal intelligence and immunodeficiency
Acute lymphoid leukemia
Condition: not provided
Malignant tumor of breast
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA160978

rs_769414

14 SubmittersRCV000115794 RCV000121617 RCV000168260 RCV000515292 RCV000589414 RCV001355243 RCV003492491

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
not specified
Condition: not provided
Malignant tumor of breast
Acute lymphoid leukemia
Aplastic anemia
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia

Criteria Provided
Conflicting Classifications

CA287934

rs_201816949

18 SubmittersRCV000115795 RCV000197783 RCV000781635 RCV000509203 RCV001356300 RCV000515395 RCV003467061

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
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia
Acute lymphoid leukemia
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
NBN-related disorder

Criteria Provided
Conflicting Classifications

CA287937

rs_182756889

13 SubmittersRCV000115796 RCV000123218 RCV000764786 RCV000587269 RCV001030567 RCV001549273 RCV003389690

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
Aplastic anemia
Acute lymphoid leukemia

Criteria Provided
Conflicting Classifications

CA287940

rs_587780097

10 SubmittersRCV000115798 RCV000235189 RCV000461206 RCV000515203

NM_002485.5(NBN):c.127C>T (p.Arg43Ter)

SNV
Germline

Chr8:89982766

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
Aplastic anemia
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia
Acute lymphoid leukemia
Gastric cancer

Criteria Provided
Conflicting Classifications

CA167743

rs_200287925

14 SubmittersRCV000131193 RCV000409406 RCV000489509 RCV003467167 RCV005042269 RCV003162586

NM_002485.5(NBN):c.1903A>T (p.Lys635Ter)

SNV
Germline

Chr8:89947835

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia
Microcephaly, normal intelligence and immunodeficiency
Acute lymphoid leukemia
Aplastic anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA168703

rs_587782545

13 SubmittersRCV000219708 RCV000131755 RCV000227700 RCV003467185 RCV000763606

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
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia
Acute lymphoid leukemia
Aplastic anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA299657

rs_730881864

17 SubmittersRCV000160804 RCV000204431 RCV000215628 RCV000515171 RCV003467267

NM_002485.5(NBN):c.2071-1G>C

SNV
Germline

Chr8:89943367

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
Aplastic anemia
Aplastic anemia
Acute lymphoid leukemia
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA191166

rs_786201965

9 SubmittersRCV000164521 RCV000409665 RCV000483747 RCV003474861 RCV005042329

NM_002485.5(NBN):c.1723G>T (p.Glu575Ter)

SNV
Germline

Chr8:89953366

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Acute lymphoid leukemia
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia
Aplastic anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA190280

rs_786201745

6 SubmittersRCV000164194 RCV000456402 RCV005042327 RCV003462127

NM_002485.5(NBN):c.37+1G>A

SNV
Germline

Chr8:89984524

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Microcephaly, normal intelligence and immunodeficiency
Breast and/or ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 1
Aplastic anemia
Acute lymphoid leukemia
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA194448

rs_574673404

13 SubmittersRCV000165888 RCV000708614 RCV000470841 RCV001270989 RCV001310161 RCV003468760 RCV005042333

NM_002485.5(NBN):c.1030C>T (p.Gln344Ter)

SNV
Germline

Chr8:89958819

Pathogenic

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Acute lymphoid leukemia
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia
Condition: not provided
Aplastic anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA274767

rs_767215758

11 SubmittersRCV000170448 RCV000446931 RCV000763607 RCV000220210 RCV003474919

NM_002485.5(NBN):c.842T>G (p.Leu281Ter)

SNV
Germline

Chr8:89970418

Pathogenic

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Acute lymphoid leukemia
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia
Aplastic anemia
NBN-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA334800

rs_786205135

9 SubmittersRCV000170447 RCV000772328 RCV005042367 RCV003468849 RCV003398875

NM_001987.5(ETV6):c.1046T>C (p.Leu349Pro)

SNV
Germline

Chr12:11884481

Likely pathogenic

Thrombocytopenia
Thrombocytopenia
Acute lymphoid leukemia
Inborn genetic diseases

Criteria Provided
Single Submitter

CA277990

rs_786205155

2 SubmittersRCV000170465 RCV000170464 RCV004020020

NM_002485.5(NBN):c.1747C>T (p.Gln583Ter)

SNV
Germline

Chr8:89953342

Pathogenic/Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Condition: not provided
Aplastic anemia
Microcephaly, normal intelligence and immunodeficiency
Acute lymphoid leukemia
Aplastic anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA350525

rs_864622143

7 SubmittersRCV000206506 RCV000217030 RCV001753608 RCV002478725 RCV003468931

NM_002485.5(NBN):c.897-2A>T

SNV
Germline

Chr8:89964509

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Aplastic anemia
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia
Acute lymphoid leukemia
Condition: not provided
NBN-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA348947

rs_864622090

10 SubmittersRCV000204744 RCV000222760 RCV003474977 RCV002057048 RCV001567181 RCV003401102

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
Condition: not provided
Microcephaly, normal intelligence and immunodeficiency
Acute lymphoid leukemia
Aplastic anemia
Aplastic anemia

Criteria Provided
Conflicting Classifications

CA350859

rs_771034958

9 SubmittersRCV000206877 RCV000220601 RCV000486552 RCV000767209 RCV000764790 RCV003474978

NM_002485.5(NBN):c.2184+1G>T

SNV
Germline

Chr8:89943252

Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia
Acute lymphoid leukemia
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA10578743

rs_756363734

10 SubmittersRCV000222999 RCV000478822 RCV000411514 RCV003469077 RCV005049492

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
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia
Gastric cancer
Aplastic anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA16041212

rs_1057516320

9 SubmittersRCV000410234 RCV001176293 RCV001782863 RCV002504201 RCV003168586 RCV003470325

NM_002485.5(NBN):c.1843T>C (p.Ser615Pro)

SNV
Germline

Chr8:89953246

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Aplastic anemia
NBN-related disorder
Aplastic anemia
Microcephaly, normal intelligence and immunodeficiency
Acute lymphoid leukemia

Criteria Provided
Conflicting Classifications

CA4802679

rs_746632073

9 SubmittersRCV000471606 RCV000569351 RCV000483350 RCV001290536 RCV003476116 RCV004745405 RCV005398637

NM_002485.5(NBN):c.1754A>G (p.Glu585Gly)

SNV
Germline

Chr8:89953335

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
Hereditary cancer-predisposing syndrome
Aplastic anemia
Microcephaly, normal intelligence and immunodeficiency
Acute lymphoid leukemia
Malignant tumor of breast
not specified

Criteria Provided
Conflicting Classifications

CA4802685

rs_763926389

9 SubmittersRCV000461649 RCV000679454 RCV000567576 RCV002475888 RCV001358087 RCV002282161

NM_002485.5(NBN):c.481-2A>T

SNV
Germline

Chr8:89978325

Pathogenic/Likely pathogenic

Condition: not provided
Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Aplastic anemia
Microcephaly, normal intelligence and immunodeficiency
Acute lymphoid leukemia
Aplastic anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA4802955

rs_751567476

9 SubmittersRCV000523496 RCV000707500 RCV000569604 RCV002497023 RCV003470656

NM_002485.5(NBN):c.2194C>T (p.Gln732Ter)

SNV
Germline

Chr8:89937066

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Aplastic anemia
Acute lymphoid leukemia
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA371674821

rs_1554554265

3 SubmittersRCV000552881 RCV002431579 RCV005044802

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
Microcephaly, normal intelligence and immunodeficiency
Acute lymphoid leukemia
Aplastic anemia

Criteria Provided
Conflicting Classifications

CA371656207

rs_1554559171

4 SubmittersRCV000569911 RCV001054209 RCV002491138

NM_002485.5(NBN):c.1502G>A (p.Trp501Ter)

SNV
Germline

Chr8:89953587

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia
Acute lymphoid leukemia
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA371655727

rs_1554558472

7 SubmittersRCV000568444 RCV000657733 RCV001005050 RCV001388337 RCV004569121 RCV005044839

NM_002485.5(NBN):c.1125-2A>G

SNV
Germline

Chr8:89955557

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency
Acute lymphoid leukemia
Aplastic anemia

Criteria Provided
Single Submitter

rs_1554559373

1 SubmittersRCV005051712

NM_002485.5(NBN):c.7A>T (p.Lys3Ter)

SNV
Germline

Chr8:89984555

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia
Acute lymphoid leukemia
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA4803108

rs_779098734

4 SubmittersRCV000581960 RCV000707330 RCV005044868

NM_016734.3(PAX5):c.239C>G (p.Pro80Arg)

SNV
Somatic

Chr9:37015168

Likely pathogenic

Acute lymphoid leukemia

Criteria Provided
Single Submitter

CA373488100

rs_2494512979

2 SubmittersRCV000766127

NM_002485.5(NBN):c.390A>G (p.Gln130=)

SNV
Germline

Chr8:89980824

Conflicting classifications of pathogenicity

Aplastic anemia
Microcephaly, normal intelligence and immunodeficiency
Acute lymphoid leukemia
Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4802988

rs_146150499

6 SubmittersRCV000768028 RCV000799906 RCV001021414 RCV002271580 RCV001619837

NM_002485.5(NBN):c.1432T>A (p.Cys478Ser)

SNV
Germline

Chr8:89953657

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

CA371655861

rs_1199013619

5 SubmittersRCV000773787 RCV001067584 RCV005047024

NM_002485.5(NBN):c.896+1G>A

SNV
Germline

Chr8:89970363

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia
Gastric cancer
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia
Acute lymphoid leukemia

Criteria Provided
Multiple Submitters
No Conflicts

CA371658137

rs_778306619

4 SubmittersRCV001873158 RCV003465700 RCV003166060 RCV005049686

NM_002485.5(NBN):c.38-2A>G

SNV
Germline

Chr8:89982857

Likely pathogenic

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia
Acute lymphoid leukemia

Criteria Provided
Multiple Submitters
No Conflicts

CA4803066

rs_771475965

5 SubmittersRCV000775396 RCV001067027 RCV003465698 RCV005047025

NM_002485.5(NBN):c.1327A>T (p.Lys443Ter)

SNV
Germline

Chr8:89955353

Pathogenic/Likely pathogenic

Aplastic anemia
Aplastic anemia
Microcephaly, normal intelligence and immunodeficiency
Acute lymphoid leukemia
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA371656107

rs_1554559094

3 SubmittersRCV003467379 RCV005049697 RCV000799574

NM_002485.5(NBN):c.1089C>G (p.Tyr363Ter)

SNV
Germline

Chr8:89958760

Pathogenic

Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia
Microcephaly, normal intelligence and immunodeficiency
Acute lymphoid leukemia
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA371656634

rs_121908974

4 SubmittersRCV001800916 RCV005047201 RCV001009876

NM_002485.5(NBN):c.429G>A (p.Trp143Ter)

SNV
Germline

Chr8:89980785

Pathogenic/Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia
Acute lymphoid leukemia
Aplastic anemia
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA371661723

rs_1812023981

4 SubmittersRCV001061415 RCV003462589 RCV005047271

NM_002485.5(NBN):c.172-1G>T

SNV
Germline

Chr8:89981524

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia
Acute lymphoid leukemia

Criteria Provided
Multiple Submitters
No Conflicts

CA371662651

rs_1391598284

2 SubmittersRCV001378799 RCV005040241

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
Acute lymphoid leukemia
Aplastic anemia
Hereditary cancer-predisposing syndrome
Aplastic anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA371656597

rs_2129744741

5 SubmittersRCV001386835 RCV002476731 RCV004037684 RCV003469725

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

CA367531196

rs_2153477847

2 SubmittersRCV001706897 RCV003444111

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

CA367527128

rs_2153469119

2 SubmittersRCV001837716 RCV003444112

NM_002485.5(NBN):c.1168G>T (p.Glu390Ter)

SNV
Germline

Chr8:89955512

Pathogenic/Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Aplastic anemia
Acute lymphoid leukemia
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA371656443

rs_2129721628

3 SubmittersRCV001960653 RCV003289305 RCV005042594

NM_002485.5(NBN):c.1287T>A (p.Tyr429Ter)

SNV
Germline

Chr8:89955393

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia
Aplastic anemia
Acute lymphoid leukemia
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA371656192

rs_1554559152

4 SubmittersRCV002383218 RCV003094921 RCV004572399 RCV005050571

NM_006060.6(IKZF1):c.161-8275C>T

SNV
Germline

Chr7:50368258

Conflicting classifications of pathogenicity

Acute lymphoid leukemia
Condition: not provided
IKZF1-related disorder

Criteria Provided
Conflicting Classifications

CA158208169

rs_541802498