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.976C>T (p.Gln326Ter)	SNV Germline	Chr8:89964428	Pathogenic	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA197104	rs_121908973	6 SubmittersRCV000007359 RCV000166946
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_002485.5(NBN):c.1089C>A (p.Tyr363Ter)	SNV Germline	Chr8:89958760	Pathogenic	Microcephaly, normal intelligence and immunodeficiency Condition: not provided Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts	CA254010	rs_121908974	6 SubmittersRCV000007362 RCV003329227 RCV003472997
NM_002485.5(NBN):c.643C>T (p.Arg215Trp)	SNV Germline	Chr8:89971232	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome not specified Condition: not provided NBN-related disorder Breast-ovarian cancer, familial, susceptibility to, 2	Criteria Provided Conflicting Classifications	CA160990	rs_34767364	26 SubmittersRCV000007363 RCV000115802 RCV000121621 RCV000487932 RCV003891431 RCV005623282
NM_002485.5(NBN):c.*401C>G	SNV Germline	Chr8:89935181	Conflicting classifications of pathogenicity	Condition: not provided Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA230725	rs_104895030	3 SubmittersRCV000114873 RCV000316124
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_002485.5(NBN):c.1035C>T (p.Gly345=)	SNV Germline	Chr8:89958814	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Microcephaly, normal intelligence and immunodeficiency NBN-related disorder not specified	Criteria Provided Conflicting Classifications	CA287892	rs_146605798	12 SubmittersRCV000115775 RCV000587475 RCV001081028 RCV003925115 RCV001818276
NM_002485.5(NBN):c.1036G>A (p.Val346Met)	SNV Germline	Chr8:89958813	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Condition: not provided Microcephaly, normal intelligence and immunodeficiency Aplastic anemia Prostate cancer Malignant tumor of breast NBN-related disorder	Criteria Provided Conflicting Classifications	CA287895	rs_200297914	17 SubmittersRCV000115776 RCV000212741 RCV000589164 RCV001082179 RCV001293998 RCV001255161 RCV001355371 RCV003945047
NM_002485.5(NBN):c.1091T>C (p.Val364Ala)	SNV Germline	Chr8:89958758	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency not specified	Criteria Provided Conflicting Classifications	CA287898	rs_370229163	6 SubmittersRCV000115777 RCV000217684 RCV000700024 RCV001818277
NM_002485.5(NBN):c.1238A>G (p.Asn413Ser)	SNV Germline	Chr8:89955442	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA287901	rs_529340553	7 SubmittersRCV000222002 RCV000589729 RCV001087448
NM_002485.5(NBN):c.1317A>G (p.Ile439Met)	SNV Germline	Chr8:89955363	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Microcephaly, normal intelligence and immunodeficiency Aplastic anemia Malignant tumor of breast NBN-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA200704	rs_28538230	12 SubmittersRCV000115781 RCV000173760 RCV001082062 RCV001292773 RCV001355697 RCV003935104 RCV001719859
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.1777C>G (p.Pro593Ala)	SNV Germline	Chr8:89953312	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Condition: not provided Microcephaly, normal intelligence and immunodeficiency NBN-related disorder	Criteria Provided Conflicting Classifications	CA287910	rs_146989944	11 SubmittersRCV000115785 RCV000212750 RCV000656929 RCV000988083 RCV003891614
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.254A>G (p.Asn85Ser)	SNV Germline	Chr8:89981441	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA287928	rs_587780095	8 SubmittersRCV000115791 RCV000214236 RCV000231493 RCV005364995
NM_002485.5(NBN):c.283G>A (p.Asp95Asn)	SNV Germline	Chr8:89981412	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA160975	rs_61753720	23 SubmittersRCV000115792 RCV000121616 RCV000123216 RCV000588621
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.758C>T (p.Thr253Ile)	SNV Germline	Chr8:89970502	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Microcephaly, normal intelligence and immunodeficiency Condition: not provided NBN-related disorder	Criteria Provided Conflicting Classifications	CA160999	rs_61754967	13 SubmittersRCV000115805 RCV000121624 RCV000168183 RCV000656925 RCV003952554
NM_002485.5(NBN):c.788T>C (p.Phe263Ser)	SNV Germline	Chr8:89970472	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency not specified Condition: not provided Hereditary cancer NBN-related disorder	Criteria Provided Conflicting Classifications	CA287950	rs_147626427	11 SubmittersRCV000115806 RCV000199794 RCV000212737 RCV000656926 RCV003492492 RCV004745190
NM_002485.5(NBN):c.321-2A>G	SNV Germline	Chr8:89980895	Likely pathogenic	not specified Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Multiple Submitters No Conflicts	CA156443	rs_587777931	3 SubmittersRCV000119854 RCV003162555 RCV002514610
NM_002485.5(NBN):c.1405G>T (p.Asp469Tyr)	SNV Germline	Chr8:89953684	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided Hereditary breast ovarian cancer syndrome NBN-related disorder Aplastic anemia Hereditary cancer	Criteria Provided Conflicting Classifications	CA160966	rs_148205441	13 SubmittersRCV000121613 RCV000129788 RCV000167890 RCV000588734 RCV002225383 RCV003389699 RCV003474728 RCV005235011
NM_002485.5(NBN):c.104T>C (p.Ile35Thr)	SNV Germline	Chr8:89982789	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Condition: not provided not specified Aplastic anemia	Criteria Provided Conflicting Classifications	CA332807	rs_587780773	11 SubmittersRCV000123202 RCV000221417 RCV000484131 RCV001264517 RCV003467093
NM_002485.5(NBN):c.38-10T>A	SNV Germline	Chr8:89982865	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Microcephaly, normal intelligence and immunodeficiency Hereditary breast ovarian cancer syndrome Hereditary cancer	Criteria Provided Conflicting Classifications	CA292412	rs_556807466	10 SubmittersRCV000127085 RCV000733762 RCV000200594 RCV002225409 RCV005235033
NM_002485.5(NBN):c.1124+6G>T	SNV Germline	Chr8:89958719	Conflicting classifications of pathogenicity	not specified Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Malignant tumor of breast Condition: not provided	Criteria Provided Conflicting Classifications	CA292413	rs_375862750	12 SubmittersRCV000127086 RCV000199990 RCV000581770 RCV001354937 RCV000587851
NM_002485.5(NBN):c.1914+10G>A	SNV Germline	Chr8:89947814	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Condition: not provided Malignant tumor of breast not specified Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA205304	rs_577706448	13 SubmittersRCV000232925 RCV000679456 RCV001357262 RCV000192466 RCV000581136
NM_002485.5(NBN):c.481-18A>G	SNV Germline	Chr8:89978341	Conflicting classifications of pathogenicity	not specified Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA292414	rs_587781092	3 SubmittersRCV000127092 RCV002055696 RCV004017414
NM_002485.5(NBN):c.1125-3C>T	SNV Germline	Chr8:89955558	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA163760	rs_587781326	5 SubmittersRCV000129069 RCV000361912 RCV001719900
NM_002485.5(NBN):c.172-3C>T	SNV Germline	Chr8:89981526	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA164959	rs_587781620	5 SubmittersRCV000129710 RCV000330677 RCV000832940
NM_002485.5(NBN):c.1912T>C (p.Ser638Pro)	SNV Germline	Chr8:89947826	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Microcephaly, normal intelligence and immunodeficiency not specified Familial ovarian cancer	Criteria Provided Conflicting Classifications	CA164965	rs_199657566	15 SubmittersRCV000129714 RCV000214531 RCV000229344 RCV001193652 RCV001354210
NM_002485.5(NBN):c.73G>A (p.Val25Ile)	SNV Germline	Chr8:89982820	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA294139	rs_587781748	8 SubmittersRCV000129954 RCV000212726 RCV000232974 RCV000656923
NM_002485.5(NBN):c.1729G>T (p.Asp577Tyr)	SNV Germline	Chr8:89953360	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome not specified Aplastic anemia Condition: not provided	Criteria Provided Conflicting Classifications	CA165950	rs_587781881	9 SubmittersRCV000199051 RCV000130210 RCV000499428 RCV003474761 RCV000589088
NM_002485.5(NBN):c.1124+5A>T	SNV Germline	Chr8:89958720	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA166777	rs_587782108	5 SubmittersRCV000130624 RCV000608438 RCV000672993
NM_002485.5(NBN):c.1474C>T (p.Gln492Ter)	SNV Germline	Chr8:89953615	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Microcephaly, normal intelligence and immunodeficiency Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts	CA166874	rs_587782130	5 SubmittersRCV000130673 RCV000480769 RCV000529643 RCV003467153
NM_002485.5(NBN):c.-2C>A	SNV Germline	Chr8:89984563	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Condition: not provided Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA167158	rs_202104448	7 SubmittersRCV000130810 RCV000422154 RCV001284195 RCV001800437
NM_002485.5(NBN):c.171+4T>C	SNV Germline	Chr8:89982718	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA167713	rs_587782290	11 SubmittersRCV000131170 RCV000205676 RCV000590607 RCV005359252
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.278C>T (p.Ser93Leu)	SNV Germline	Chr8:89981417	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Microcephaly, normal intelligence and immunodeficiency Condition: not provided Malignant tumor of breast	Criteria Provided Conflicting Classifications	CA206703	rs_12721593	12 SubmittersRCV000131226 RCV000193311 RCV000168344 RCV000586867 RCV001354986
NM_002485.5(NBN):c.1591A>G (p.Ile531Val)	SNV Germline	Chr8:89953498	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Malignant tumor of breast not specified	Criteria Provided Conflicting Classifications	CA167864	rs_587782330	7 SubmittersRCV000131247 RCV000542468 RCV001357760 RCV001778752
NM_002485.5(NBN):c.584+3A>G	SNV Germline	Chr8:89978217	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA168167	rs_587782407	5 SubmittersRCV000131444 RCV000636786 RCV003225031
NM_002485.5(NBN):c.1354A>C (p.Thr452Pro)	SNV Germline	Chr8:89955326	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency not specified Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer NBN-related disorder	Criteria Provided Conflicting Classifications	CA294382	rs_141137543	17 SubmittersRCV000131458 RCV000199946 RCV000212747 RCV000735122 RCV002225444 RCV003492622 RCV003905237
NM_002485.5(NBN):c.949A>G (p.Met317Val)	SNV Germline	Chr8:89964455	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA168521	rs_587782502	5 SubmittersRCV000131642 RCV000477065 RCV000485286
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.2117C>G (p.Ser706Ter)	SNV Germline	Chr8:89943320	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Microcephaly, normal intelligence and immunodeficiency Aplastic anemia NBN-related disorder Microcephaly, normal intelligence and immunodeficiency Malignant tumor of breast	Criteria Provided Multiple Submitters No Conflicts	CA299633	rs_730881857	10 SubmittersRCV000160795 RCV000212754 RCV000409031 RCV003467263 RCV003407597 RCV001535781
NM_002485.5(NBN):c.2029G>A (p.Asp677Asn)	SNV Germline	Chr8:89946181	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided Aplastic anemia not specified	Criteria Provided Conflicting Classifications	CA299630	rs_730881856	9 SubmittersRCV000160794 RCV000205938 RCV000235191 RCV001788054 RCV003317109
NM_002485.5(NBN):c.1701C>G (p.Phe567Leu)	SNV Germline	Chr8:89953388	Conflicting classifications of pathogenicity	Condition: not provided Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA299621	rs_730881853	4 SubmittersRCV000160791 RCV001800471 RCV000771478
NM_002485.5(NBN):c.1397+2T>A	SNV Germline	Chr8:89955281	Likely pathogenic	Condition: not provided Microcephaly, normal intelligence and immunodeficiency Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts	CA299614	rs_730881850	3 SubmittersRCV000160788 RCV000459098 RCV003467262
NM_002485.5(NBN):c.1343A>T (p.Gln448Leu)	SNV Germline	Chr8:89955337	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided Aplastic anemia NBN-related disorder not specified Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA239214	rs_146403088	13 SubmittersRCV000160787 RCV000200818 RCV000656928 RCV003474834 RCV004745222 RCV001264572 RCV005359380
NM_002485.5(NBN):c.1255A>G (p.Asn419Asp)	SNV Germline	Chr8:89955425	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA299611	rs_730881849	4 SubmittersRCV000160786 RCV000212744 RCV001304232
NM_002485.5(NBN):c.1089C>T (p.Tyr363=)	SNV Germline	Chr8:89958760	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Condition: not provided Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA248080	rs_121908974	12 SubmittersRCV000160770 RCV000212742 RCV000724700 RCV001079308
NM_002485.5(NBN):c.596C>G (p.Pro199Arg)	SNV Germline	Chr8:89971279	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Microcephaly, normal intelligence and immunodeficiency not specified Aplastic anemia	Criteria Provided Conflicting Classifications	CA299593	rs_730881844	13 SubmittersRCV000160780 RCV000726896 RCV000205060 RCV002229765 RCV003474833
NM_002485.5(NBN):c.468A>C (p.Lys156Asn)	SNV Germline	Chr8:89980746	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency not specified	Criteria Provided Conflicting Classifications	CA299636	rs_730881858	9 SubmittersRCV000160796 RCV000222254 RCV000456204 RCV000781643
NM_002485.5(NBN):c.289A>G (p.Ile97Val)	SNV Germline	Chr8:89981406	Conflicting classifications of pathogenicity	Condition: not provided Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA299627	rs_730881855	4 SubmittersRCV000160793 RCV000636730 RCV002433715
NM_002485.5(NBN):c.16C>T (p.Pro6Ser)	SNV Germline	Chr8:89984546	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided Aplastic anemia not specified	Criteria Provided Conflicting Classifications	CA299642	rs_730881859	8 SubmittersRCV000160798 RCV000197183 RCV000212724 RCV003467264 RCV004700496
NM_002485.5(NBN):c.-26G>A	SNV Germline	Chr8:89984587	Conflicting classifications of pathogenicity	not specified Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA299592	rs_201392451	5 SubmittersRCV000160779 RCV000352846 RCV003482133
NM_002485.5(NBN):c.286G>A (p.Gly96Ser)	SNV Germline	Chr8:89981409	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA333815	rs_730882133	4 SubmittersRCV000161942 RCV002478492 RCV000574837
NM_002485.5(NBN):c.2234+2T>G	SNV Germline	Chr8:89937024	Likely pathogenic	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts	CA190813	rs_142301194	6 SubmittersRCV000164379 RCV000636785 RCV000508046 RCV003474858
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.2070+2T>G	SNV Germline	Chr8:89946138	Likely pathogenic	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA195879	rs_786203223	3 SubmittersRCV000166440 RCV001378392 RCV000759171
NM_002485.5(NBN):c.2056A>T (p.Lys686Ter)	SNV Germline	Chr8:89946154	Pathogenic	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Multiple Submitters No Conflicts	CA198303	rs_786203920	2 SubmittersRCV000167435 RCV002516520
NM_002485.5(NBN):c.1989G>A (p.Val663=)	SNV Germline	Chr8:89946221	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided NBN-related disorder Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA186793	rs_757753217	5 SubmittersRCV000162717 RCV000931948 RCV003937483 RCV001503777
NM_002485.5(NBN):c.1816G>A (p.Glu606Lys)	SNV Germline	Chr8:89953273	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA195896	rs_774324419	5 SubmittersRCV000166446 RCV000586042 RCV000636773
NM_002485.5(NBN):c.1809C>A (p.Phe603Leu)	SNV Germline	Chr8:89953280	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Condition: not provided Malignant tumor of breast Microcephaly, normal intelligence and immunodeficiency Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA191232	rs_192236678	11 SubmittersRCV000164543 RCV000424535 RCV000589243 RCV001357000 RCV001081367 RCV001030565
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.1465C>G (p.Leu489Val)	SNV Germline	Chr8:89953624	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Malignant tumor of breast Aplastic anemia	Criteria Provided Conflicting Classifications	CA190135	rs_143948240	8 SubmittersRCV000164141 RCV000197233 RCV001354892 RCV003467286
NM_002485.5(NBN):c.1282A>G (p.Asn428Asp)	SNV Germline	Chr8:89955398	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided Aplastic anemia	Criteria Provided Conflicting Classifications	CA192382	rs_786202302	9 SubmittersRCV000165044 RCV000476294 RCV000588529 RCV001788056
NM_002485.5(NBN):c.1248G>T (p.Met416Ile)	SNV Germline	Chr8:89955432	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided Aplastic anemia	Criteria Provided Conflicting Classifications	CA191930	rs_756572268	5 SubmittersRCV000164855 RCV000534913 RCV001582649 RCV003468723
NM_002485.5(NBN):c.1204A>G (p.Thr402Ala)	SNV Germline	Chr8:89955476	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA197574	rs_201373377	3 SubmittersRCV000167134 RCV000686355
NM_002485.5(NBN):c.786C>A (p.Phe262Leu)	SNV Germline	Chr8:89970474	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Microcephaly, normal intelligence and immunodeficiency not specified Aplastic anemia	Criteria Provided Conflicting Classifications	CA192297	rs_372159380	10 SubmittersRCV000165014 RCV000214639 RCV000473725 RCV001264536 RCV003462161
NM_002485.5(NBN):c.415A>G (p.Thr139Ala)	SNV Germline	Chr8:89980799	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Hereditary breast ovarian cancer syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA193554	rs_543852763	7 SubmittersRCV000165497 RCV000168457 RCV002225484 RCV001706081
NM_002485.5(NBN):c.266G>C (p.Arg89Pro)	SNV Germline	Chr8:89981429	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided Malignant tumor of breast NBN-related disorder	Criteria Provided Conflicting Classifications	CA189935	rs_747315554	10 SubmittersRCV000164059 RCV000473711 RCV000483231 RCV001354099 RCV004745239
NM_002485.5(NBN):c.235A>G (p.Asn79Asp)	SNV Germline	Chr8:89981460	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Ovarian cancer	Criteria Provided Conflicting Classifications	CA194070	rs_786202749	4 SubmittersRCV000165721 RCV000812346 RCV003153447
NM_002485.5(NBN):c.120G>T (p.Ser40=)	SNV Germline	Chr8:89982773	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Microcephaly, normal intelligence and immunodeficiency NBN-related disorder	Criteria Provided Conflicting Classifications	CA189008	rs_774989816	9 SubmittersRCV000163710 RCV000733019 RCV000988090 RCV003975231
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.2165G>A (p.Trp722Ter)	SNV Germline	Chr8:89943272	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA334459	rs_786204181	1 SubmittersRCV000168229
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_002485.5(NBN):c.1979G>C (p.Arg660Thr)	SNV Germline	Chr8:89946231	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Condition: not provided Hereditary cancer-predisposing syndrome not specified NBN-related disorder Aplastic anemia	Criteria Provided Conflicting Classifications	CA335799	rs_201781110	10 SubmittersRCV000195616 RCV000486313 RCV000566063 RCV001731429 RCV003407708 RCV004567439
NM_002485.5(NBN):c.854G>C (p.Cys285Ser)	SNV Germline	Chr8:89970406	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA336228	rs_863224715	3 SubmittersRCV000196198 RCV001017981
NM_002485.5(NBN):c.37+10G>C	SNV Germline	Chr8:89984515	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency not specified Hereditary cancer-predisposing syndrome Malignant tumor of breast Condition: not provided	Criteria Provided Conflicting Classifications	CA337883	rs_369408590	10 SubmittersRCV000198382 RCV000432416 RCV000580931 RCV001356816 RCV000859143
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.266G>A (p.Arg89Gln)	SNV Germline	Chr8:89981429	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA348406	rs_747315554	8 SubmittersRCV000204158 RCV000215544 RCV002466468
NM_002485.5(NBN):c.2071-1G>A	SNV Germline	Chr8:89943367	Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts	CA10577363	rs_786201965	6 SubmittersRCV000217514 RCV000222103 RCV000543979 RCV004567540
NM_002485.5(NBN):c.1398-10T>A	SNV Germline	Chr8:89953701	Conflicting classifications of pathogenicity	Condition: not provided Microcephaly, normal intelligence and immunodeficiency Malignant tumor of breast Hereditary breast ovarian cancer syndrome not specified	Criteria Provided Conflicting Classifications	CA4802732	rs_539960851	7 SubmittersRCV000214666 RCV000463346 RCV001355059 RCV002225524 RCV004701297
NM_002485.5(NBN):c.666C>T (p.Phe222=)	SNV Germline	Chr8:89971209	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency not specified	Criteria Provided Conflicting Classifications	CA10577368	rs_876661098	6 SubmittersRCV000220946 RCV001183517 RCV001273693 RCV002509326
NM_002485.5(NBN):c.6G>A (p.Trp2Ter)	SNV Germline	Chr8:89984556	Pathogenic/Likely pathogenic	Condition: not provided Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Multiple Submitters No Conflicts	CA10577371	rs_876661130	2 SubmittersRCV000220864 RCV001854740
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.2073C>T (p.Val691=)	SNV Germline	Chr8:89943364	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency not specified	Criteria Provided Conflicting Classifications	CA10578745	rs_876658178	3 SubmittersRCV000223586 RCV000636790 RCV003330586
NM_002485.5(NBN):c.2070+4G>A	SNV Germline	Chr8:89946136	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided not specified NBN-related disorder	Criteria Provided Conflicting Classifications	CA10578746	rs_876660950	9 SubmittersRCV000216823 RCV000467512 RCV000842243 RCV002265696 RCV003929919
NM_002485.5(NBN):c.1796C>G (p.Thr599Arg)	SNV Germline	Chr8:89953293	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Ovarian cancer	Criteria Provided Conflicting Classifications	CA4802684	rs_775848374	5 SubmittersRCV000215909 RCV000534730 RCV003153514
NM_002485.5(NBN):c.1672A>G (p.Ile558Val)	SNV Germline	Chr8:89953417	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA10578755	rs_876659451	4 SubmittersRCV000216080 RCV000465308
NM_002485.5(NBN):c.1659G>A (p.Met553Ile)	SNV Germline	Chr8:89953430	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA10578756	rs_876659960	7 SubmittersRCV000213628 RCV000530341 RCV001800566 RCV001658036
NM_002485.5(NBN):c.1622C>G (p.Ala541Gly)	SNV Germline	Chr8:89953467	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Aplastic anemia	Criteria Provided Conflicting Classifications	CA10578757	rs_876658501	6 SubmittersRCV000216784 RCV000460642 RCV003468996
NM_002485.5(NBN):c.1454C>T (p.Thr485Met)	SNV Germline	Chr8:89953635	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA4802717	rs_200891292	7 SubmittersRCV000218203 RCV000473153 RCV001284189 RCV001800560
NM_002485.5(NBN):c.1417C>A (p.Gln473Lys)	SNV Germline	Chr8:89953672	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided Aplastic anemia not specified	Criteria Provided Conflicting Classifications	CA4802721	rs_755805461	7 SubmittersRCV000213681 RCV000463881 RCV000484796 RCV003475035 RCV005406965
NM_002485.5(NBN):c.1397+3C>G	SNV Germline	Chr8:89955280	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA10578766	rs_876660481	5 SubmittersRCV000216247 RCV000636797
NM_002485.5(NBN):c.1315A>G (p.Ile439Val)	SNV Germline	Chr8:89955365	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency not specified	Criteria Provided Conflicting Classifications	CA4802766	rs_752837508	6 SubmittersRCV000214707 RCV000229100 RCV004586635
NM_002485.5(NBN):c.1198G>A (p.Ala400Thr)	SNV Germline	Chr8:89955482	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA4802781	rs_551602980	3 SubmittersRCV000217029 RCV000988085 RCV002478803
NM_002485.5(NBN):c.1160C>G (p.Ser387Cys)	SNV Germline	Chr8:89955520	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA4802785	rs_747632184	5 SubmittersRCV000215651 RCV000699656 RCV003477740
NM_002485.5(NBN):c.1152C>G (p.Ile384Met)	SNV Germline	Chr8:89955528	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA10578769	rs_551802153	4 SubmittersRCV000218105 RCV001067296
NM_002485.5(NBN):c.995-2A>G	SNV Germline	Chr8:89958856	Pathogenic/Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Condition: not provided Aplastic anemia NBN-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA10578779	rs_876659521	7 SubmittersRCV000231563 RCV000223218 RCV000481197 RCV003475021 RCV003407753
NM_002485.5(NBN):c.977A>G (p.Gln326Arg)	SNV Germline	Chr8:89964427	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA10578781	rs_876659586	2 SubmittersRCV000217834 RCV001853581
NM_002485.5(NBN):c.703-3T>C	SNV Germline	Chr8:89970560	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA10578794	rs_876659566	4 SubmittersRCV000216120 RCV000615655 RCV000809078
NM_002485.5(NBN):c.394A>G (p.Ile132Val)	SNV Germline	Chr8:89980820	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA4802987	rs_756946899	3 SubmittersRCV000223570 RCV000636732
NM_002485.5(NBN):c.109A>G (p.Asn37Asp)	SNV Germline	Chr8:89982784	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA10578814	rs_876658411	3 SubmittersRCV000217641 RCV000469351
NM_002485.5(NBN):c.105T>G (p.Ile35Met)	SNV Germline	Chr8:89982788	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided Aplastic anemia	Criteria Provided Conflicting Classifications	CA4803056	rs_78870221	6 SubmittersRCV000216738 RCV000533679 RCV001570359 RCV003475034
NM_002485.5(NBN):c.38-5C>T	SNV Germline	Chr8:89982860	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA4803067	rs_775244752	5 SubmittersRCV000221618 RCV000439470 RCV001496026
NM_002485.5(NBN):c.2015C>T (p.Pro672Leu)	SNV Germline	Chr8:89946195	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA4802630	rs_6413508	5 SubmittersRCV000234509 RCV000568348 RCV000788461
NM_002485.5(NBN):c.1738G>A (p.Val580Ile)	SNV Germline	Chr8:89953351	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA10582596	rs_878854506	3 SubmittersRCV000232061 RCV004020790
NM_002485.5(NBN):c.1023C>G (p.Ser341Arg)	SNV Germline	Chr8:89958826	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Condition: not provided not specified Aplastic anemia	Criteria Provided Conflicting Classifications	CA4802815	rs_756023239	10 SubmittersRCV000230649 RCV000446226 RCV001770195 RCV001818596 RCV003469157
NM_002485.5(NBN):c.769G>A (p.Glu257Lys)	SNV Germline	Chr8:89970491	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA10582602	rs_878854516	2 SubmittersRCV000227599 RCV004020791
NM_002485.5(NBN):c.37+6G>C	SNV Germline	Chr8:89984519	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA4803097	rs_540868733	8 SubmittersRCV000231974 RCV004017531 RCV000590289
NM_002485.5(NBN):c.34G>A (p.Gly12Arg)	SNV Germline	Chr8:89984528	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Condition: not provided Hereditary cancer-predisposing syndrome Aplastic anemia	Criteria Provided Conflicting Classifications	CA10582607	rs_878854511	6 SubmittersRCV000228075 RCV000762529 RCV000772147 RCV003475060
NM_002485.5(NBN):c.432A>G (p.Thr144=)	SNV Germline	Chr8:89980782	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA10604979	rs_886043003	4 SubmittersRCV000394577 RCV001022303 RCV001436992
NM_002485.5(NBN):c.*987T>G	SNV Germline	Chr8:89934595	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA10628378	rs_78935210	2 SubmittersRCV000313620 RCV003422362
NM_002485.5(NBN):c.1383G>A (p.Pro461=)	SNV Germline	Chr8:89955297	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome not specified	Criteria Provided Conflicting Classifications	CA10631749	rs_886063169	5 SubmittersRCV000357753 RCV000566911 RCV000431381
NM_002485.5(NBN):c.2185-1G>A	SNV Germline	Chr8:89937076	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency Aplastic anemia Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16041200	rs_1057517262	6 SubmittersRCV000409942 RCV003470351 RCV001014719
NM_002485.5(NBN):c.1846-1G>A	SNV Germline	Chr8:89947893	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Gastric cancer Aplastic anemia	Criteria Provided Conflicting Classifications	CA16041206	rs_61753717	5 SubmittersRCV000411891 RCV000572719 RCV003168596 RCV004567888
NM_002485.5(NBN):c.1125-1G>A	SNV Unknown	Chr8:89955556	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	No Assertion Criteria Provided	CA16041208	rs_1057517102	1 SubmittersRCV000412152
NM_002485.5(NBN):c.1124+1G>A	SNV Germline	Chr8:89958724	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA16041209	rs_1057517209	2 SubmittersRCV000410092
NM_002485.5(NBN):c.702+1G>A	SNV Germline	Chr8:89971172	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Gastric cancer	Criteria Provided Multiple Submitters No Conflicts	CA16041210	rs_1057517104	4 SubmittersRCV000411476 RCV002365446 RCV003168594
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.171+1G>A	SNV Germline	Chr8:89982721	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency Condition: not provided Hereditary cancer-predisposing syndrome Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts	CA16041215	rs_931715719	8 SubmittersRCV000409002 RCV000759169 RCV001012839 RCV003475941
NM_002485.5(NBN):c.1125G>A (p.Trp375Ter)	SNV Germline	Chr8:89955555	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA16044374	rs_1057519588	2 SubmittersRCV000417077
NM_002485.5(NBN):c.330T>G (p.Tyr110Ter)	SNV Germline	Chr8:89980884	Pathogenic	Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Single Submitter	CA16044376	rs_1057519585	2 SubmittersRCV000417080 RCV003138000
NM_002485.5(NBN):c.24G>A (p.Ala8=)	SNV Germline	Chr8:89984538	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA4803103	rs_779543740	5 SubmittersRCV000570467 RCV001704270 RCV001064416
NM_002485.5(NBN):c.1397+4T>C	SNV Germline	Chr8:89955279	Conflicting classifications of pathogenicity	not specified Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA4802756	rs_770699381	4 SubmittersRCV000418813 RCV001307656 RCV001011354
NM_002485.5(NBN):c.321-17C>G	SNV Germline	Chr8:89980910	Conflicting classifications of pathogenicity	not specified Condition: not provided Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA4803000	rs_763878712	4 SubmittersRCV000434657 RCV000679463 RCV001800667
NM_002485.5(NBN):c.37+3A>G	SNV Germline	Chr8:89984522	Conflicting classifications of pathogenicity	not specified Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome NBN-related disorder	Criteria Provided Conflicting Classifications	CA4803098	rs_764356392	6 SubmittersRCV000432255 RCV000473199 RCV000582301 RCV003942385
NM_002485.5(NBN):c.1553C>G (p.Ser518Ter)	SNV Germline	Chr8:89953536	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA16612360	rs_1060503480	1 SubmittersRCV000473949
NM_002485.5(NBN):c.37+6G>A	SNV Germline	Chr8:89984519	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Condition: not provided not specified Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA4803096	rs_540868733	8 SubmittersRCV000457854 RCV001721502 RCV001821292 RCV005355866
NM_002485.5(NBN):c.2235-8C>T	SNV Germline	Chr8:89935620	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency not specified	Criteria Provided Conflicting Classifications	CA4802565	rs_369037495	3 SubmittersRCV000461235 RCV000605954
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.896+7A>G	SNV Germline	Chr8:89970357	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA16612494	rs_1060504926	2 SubmittersRCV000469470 RCV003478043
NM_002485.5(NBN):c.383T>G (p.Leu128Ter)	SNV Germline	Chr8:89980831	Pathogenic	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16612505	rs_1060503463	2 SubmittersRCV000467395 RCV002365663
NM_002485.5(NBN):c.1274G>A (p.Arg425Lys)	SNV Germline	Chr8:89955406	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA16612541	rs_1060503478	4 SubmittersRCV000463281 RCV000565324 RCV002279233
NM_002485.5(NBN):c.1177T>C (p.Phe393Leu)	SNV Germline	Chr8:89955503	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA16612543	rs_941732827	7 SubmittersRCV000468237 RCV000570523 RCV001194317 RCV001800687
NM_002485.5(NBN):c.396A>G (p.Ile132Met)	SNV Germline	Chr8:89980818	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA16612674	rs_1060503462	4 SubmittersRCV000460586 RCV001021549 RCV001800688
NM_002485.5(NBN):c.2161G>T (p.Glu721Ter)	SNV Germline	Chr8:89943276	Pathogenic/Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Condition: not provided Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts	CA16618697	rs_1064795816	5 SubmittersRCV001383121 RCV000573618 RCV000486706 RCV003470579
NM_002485.5(NBN):c.1891C>G (p.Leu631Val)	SNV Germline	Chr8:89947847	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA16618699	rs_1064793477	4 SubmittersRCV000486410 RCV001013475 RCV001309682
NM_002485.5(NBN):c.1842A>G (p.Ile614Met)	SNV Germline	Chr8:89953247	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA4802680	rs_770345026	7 SubmittersRCV000483770 RCV000567792 RCV000551607 RCV000985869
NM_002485.5(NBN):c.1594G>A (p.Val532Met)	SNV Germline	Chr8:89953495	Conflicting classifications of pathogenicity	Condition: not provided Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA4802701	rs_545435120	5 SubmittersRCV000484172 RCV000550537 RCV001012314
NM_002485.5(NBN):c.1398-17T>G	SNV Germline	Chr8:89953708	Conflicting classifications of pathogenicity	Condition: not provided Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA4802735	rs_561077201	2 SubmittersRCV000480010 RCV002063747
NM_002485.5(NBN):c.702+1G>T	SNV Germline	Chr8:89971172	Likely pathogenic	Condition: not provided Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Multiple Submitters No Conflicts	CA16618704	rs_1057517104	2 SubmittersRCV000481637 RCV001203346
NM_002485.5(NBN):c.481-2A>G	SNV Germline	Chr8:89978325	Pathogenic/Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16618708	rs_751567476	3 SubmittersRCV002525921 RCV000483114 RCV001184207
NM_002485.5(NBN):c.2T>C (p.Met1Thr)	SNV Germline	Chr8:89984560	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA4803109	rs_746422391	4 SubmittersRCV000484157 RCV001184071 RCV000695139
NM_002485.5(NBN):c.2234+9T>G	SNV Germline	Chr8:89937017	Conflicting classifications of pathogenicity	not specified Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA583377701	rs_1446505128	2 SubmittersRCV000506398 RCV000926687
NM_002485.5(NBN):c.702+9G>A	SNV Germline	Chr8:89971164	Conflicting classifications of pathogenicity	not specified Condition: not provided Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Malignant tumor of breast	Criteria Provided Conflicting Classifications	CA4802910	rs_748373099	8 SubmittersRCV000506857 RCV000679467 RCV001085475 RCV000581237 RCV001355731
NM_002485.5(NBN):c.207A>G (p.Lys69=)	SNV Germline	Chr8:89981488	Conflicting classifications of pathogenicity	not specified Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA4803020	rs_754352569	5 SubmittersRCV000507040 RCV000808156 RCV004023420
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.2083G>T (p.Gly695Ter)	SNV Germline	Chr8:89943354	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371675852	rs_1554555835	1 SubmittersRCV000556515
NM_002485.5(NBN):c.1915-5T>G	SNV Germline	Chr8:89946300	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency not specified Aplastic anemia	Criteria Provided Conflicting Classifications	CA658657785	rs_1554556608	3 SubmittersRCV000547745 RCV001800748 RCV003470736
NM_002485.5(NBN):c.1382C>T (p.Pro461Leu)	SNV Germline	Chr8:89955298	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Condition: not provided not specified NBN-related disorder Aplastic anemia	Criteria Provided Conflicting Classifications	CA4802760	rs_367760321	11 SubmittersRCV000539528 RCV000567288 RCV001591216 RCV001821527 RCV003419937 RCV003476251
NM_002485.5(NBN):c.1255A>C (p.Asn419His)	SNV Germline	Chr8:89955425	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA4802771	rs_730881849	3 SubmittersRCV000559800 RCV001010572
NM_002485.5(NBN):c.995-1G>C	SNV Germline	Chr8:89958855	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371656826	rs_1554560523	1 SubmittersRCV000554271
NM_002485.5(NBN):c.1900G>A (p.Ala634Thr)	SNV Germline	Chr8:89947838	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA371677210	rs_1554556892	2 SubmittersRCV000534847 RCV004943964
NM_002485.5(NBN):c.1558A>G (p.Asn520Asp)	SNV Germline	Chr8:89953531	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA181257926	rs_944499155	3 SubmittersRCV000536553 RCV000573249
NM_002485.5(NBN):c.1170A>G (p.Glu390=)	SNV Germline	Chr8:89955510	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA462115050	rs_1554559326	3 SubmittersRCV000541197 RCV000582045 RCV001417903
NM_002485.5(NBN):c.994+5T>C	SNV Germline	Chr8:89964405	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA4802840	rs_778254433	3 SubmittersRCV000546426 RCV000574546
NM_002485.5(NBN):c.935T>A (p.Leu312Ter)	SNV Germline	Chr8:89964469	Pathogenic/Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Multiple Submitters No Conflicts	CA371657029	rs_371480039	3 SubmittersRCV000544042
NM_002485.5(NBN):c.45A>C (p.Pro15=)	SNV Germline	Chr8:89982848	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA461831586	rs_577332041	2 SubmittersRCV001438018 RCV004023856
NM_002485.5(NBN):c.994+1G>T	SNV Germline	Chr8:89964409	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Condition: not provided Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts	CA371656834	rs_1554562083	5 SubmittersRCV000553121 RCV000755042 RCV003328595 RCV003459221
NM_002485.5(NBN):c.804G>T (p.Thr268=)	SNV Germline	Chr8:89970456	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency not specified Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA461830826	rs_141443872	4 SubmittersRCV000544774 RCV001328442 RCV002413489
NM_002485.5(NBN):c.64G>T (p.Val22Phe)	SNV Germline	Chr8:89982829	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA371663582	rs_369910645	2 SubmittersRCV000540870 RCV004943965
NM_002485.5(NBN):c.702+1G>C	SNV Germline	Chr8:89971172	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA371658914	rs_1057517104	3 SubmittersRCV000542087 RCV002367818
NM_002485.5(NBN):c.2238C>A (p.Tyr746Ter)	SNV Germline	Chr8:89935609	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Microcephaly, normal intelligence and immunodeficiency Aplastic anemia	Criteria Provided Conflicting Classifications	CA4802562	rs_751570713	6 SubmittersRCV000564630 RCV000578737 RCV000698449 RCV004569120
NM_002485.5(NBN):c.2041C>T (p.Gln681Ter)	SNV Germline	Chr8:89946169	Pathogenic	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Multiple Submitters No Conflicts	CA371676380	rs_1554556485	2 SubmittersRCV000567898 RCV001858377
NM_002485.5(NBN):c.1699T>C (p.Phe567Leu)	SNV Germline	Chr8:89953390	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA371655291	rs_1554558312	3 SubmittersRCV000563554 RCV000796112
NM_002485.5(NBN):c.2140C>G (p.Arg714Gly)	SNV Germline	Chr8:89943297	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA4802601	rs_730881864	6 SubmittersRCV000575176 RCV000636782 RCV001584370
NM_002485.5(NBN):c.2128G>C (p.Ala710Pro)	SNV Germline	Chr8:89943309	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA371675559	rs_1554555808	3 SubmittersRCV000568915 RCV000704836
NM_002485.5(NBN):c.1410A>G (p.Glu470=)	SNV Germline	Chr8:89953679	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA462114864	rs_1554558592	4 SubmittersRCV000572616 RCV001800780 RCV001764653
NM_002485.5(NBN):c.1399G>T (p.Glu467Ter)	SNV Germline	Chr8:89953690	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Malignant tumor of breast Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts	CA371655931	rs_1554558613	5 SubmittersRCV000571949 RCV000801906 RCV001356206 RCV004569156
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.1171C>T (p.Gln391Ter)	SNV Germline	Chr8:89955509	Pathogenic	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA371656435	rs_1554559323	4 SubmittersRCV000569344 RCV000694464 RCV001783067
NM_002485.5(NBN):c.1268A>G (p.Lys423Arg)	SNV Germline	Chr8:89955412	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA371656233	rs_1444306607	3 SubmittersRCV000572328 RCV001041861
NM_002485.5(NBN):c.1124+1G>C	SNV Germline	Chr8:89958724	Likely pathogenic	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Multiple Submitters No Conflicts	CA371656555	rs_1057517209	2 SubmittersRCV000569288 RCV001853723
NM_002485.5(NBN):c.1232C>G (p.Ser411Cys)	SNV Germline	Chr8:89955448	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA4802777	rs_551032019	4 SubmittersRCV000574288 RCV000694630 RCV000833202
NM_002485.5(NBN):c.2184+1G>A	SNV Germline	Chr8:89943252	Likely pathogenic	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Multiple Submitters No Conflicts	CA181273259	rs_756363734	2 SubmittersRCV000569113 RCV000822720
NM_002485.5(NBN):c.1993A>G (p.Lys665Glu)	SNV Germline	Chr8:89946217	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA371676482	rs_1554556544	3 SubmittersRCV000570062 RCV000684896
NM_002485.5(NBN):c.193G>A (p.Val65Ile)	SNV Germline	Chr8:89981502	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency not specified	Criteria Provided Conflicting Classifications	CA4803022	rs_778998026	4 SubmittersRCV000565097 RCV001039847 RCV003479166
NM_002485.5(NBN):c.315A>G (p.Lys105=)	SNV Germline	Chr8:89981380	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA461831423	rs_13312858	3 SubmittersRCV000567799 RCV000707282
NM_002485.5(NBN):c.27C>T (p.Gly9=)	SNV Germline	Chr8:89984535	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA461831602	rs_1554569662	4 SubmittersRCV000562307 RCV000611690 RCV000704342
NM_002485.5(NBN):c.1657A>G (p.Met553Val)	SNV Germline	Chr8:89953432	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA4802693	rs_746347634	6 SubmittersRCV000573104 RCV000636736 RCV000985868
NM_002485.5(NBN):c.36A>C (p.Gly12=)	SNV Germline	Chr8:89984526	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA461831594	rs_1554569658	3 SubmittersRCV000566109 RCV001235497
NM_002485.5(NBN):c.1395A>G (p.Lys465=)	SNV Germline	Chr8:89955285	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA462114815	rs_1213870507	2 SubmittersRCV000563286 RCV001449253
NM_002485.5(NBN):c.1870C>T (p.Arg624Cys)	SNV Germline	Chr8:89947868	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Aplastic anemia	Criteria Provided Conflicting Classifications	CA181275404	rs_962092255	6 SubmittersRCV000565273 RCV000687082 RCV003465269
NM_002485.5(NBN):c.1511A>G (p.Lys504Arg)	SNV Germline	Chr8:89953578	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA4802708	rs_757754183	4 SubmittersRCV000566537 RCV000815889
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.1312A>G (p.Ser438Gly)	SNV Germline	Chr8:89955368	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA371656141	rs_1456827107	3 SubmittersRCV000573699 RCV001063253
NM_002485.5(NBN):c.1147G>C (p.Glu383Gln)	SNV Germline	Chr8:89955533	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA371656492	rs_772909239	3 SubmittersRCV000573508 RCV001341050
NM_002485.5(NBN):c.1125-4A>G	SNV Germline	Chr8:89955559	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA658657802	rs_1554559375	3 SubmittersRCV000562845 RCV001400116
NM_002485.5(NBN):c.1124G>A (p.Trp375Ter)	SNV Germline	Chr8:89958725	Pathogenic	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Multiple Submitters No Conflicts	CA371656558	rs_1394437421	2 SubmittersRCV000564232 RCV001858316
NM_002485.5(NBN):c.584+5A>G	SNV Germline	Chr8:89978215	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA583375382	rs_1309889719	3 SubmittersRCV000565579 RCV000636761
NM_002485.5(NBN):c.480A>G (p.Lys160=)	SNV Germline	Chr8:89980734	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA461831330	rs_1554567842	3 SubmittersRCV000567562 RCV000636809
NM_002485.5(NBN):c.320+1G>A	SNV Germline	Chr8:89981374	Likely pathogenic	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371662236	rs_1364533250	2 SubmittersRCV000564864 RCV001276022
NM_002485.5(NBN):c.1915-8C>T	SNV Germline	Chr8:89946303	Conflicting classifications of pathogenicity	Condition: not provided Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA4802640	rs_368132097	4 SubmittersRCV000579007 RCV000636792 RCV002257847
NM_002485.5(NBN):c.2070+1G>A	SNV Germline	Chr8:89946139	Likely pathogenic	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Multiple Submitters No Conflicts	CA371676311	rs_1554556454	4 SubmittersRCV000580887 RCV000671660
NM_002485.5(NBN):c.585-13A>G	SNV Germline	Chr8:89971303	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA181276865	rs_980972703	2 SubmittersRCV002060553 RCV005252971
NM_002485.5(NBN):c.171+3A>G	SNV Germline	Chr8:89982719	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Aplastic anemia	Criteria Provided Conflicting Classifications	CA658683518	rs_1487002693	5 SubmittersRCV000580790 RCV001229330 RCV003459435
NM_002485.5(NBN):c.2235A>G (p.Arg745=)	SNV Germline	Chr8:89935612	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA4802563	rs_754865465	2 SubmittersRCV000581635 RCV001853930
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_002485.5(NBN):c.565C>T (p.Gln189Ter)	SNV Germline	Chr8:89978239	Pathogenic/Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts	CA371660147	rs_1198614767	2 SubmittersRCV001853931 RCV003465314
NM_002485.5(NBN):c.-10A>T	SNV Germline	Chr8:89984571	Conflicting classifications of pathogenicity	Condition: not provided Microcephaly, normal intelligence and immunodeficiency NBN-related disorder	Criteria Provided Conflicting Classifications	CA4803113	rs_759094270	6 SubmittersRCV000586130 RCV001800804 RCV003420019
NM_002485.5(NBN):c.37+8C>T	SNV Germline	Chr8:89984517	Conflicting classifications of pathogenicity	not specified Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA461831591	rs_1554569655	3 SubmittersRCV000615842 RCV000636710
NM_002485.5(NBN):c.871C>T (p.Gln291Ter)	SNV Germline	Chr8:89970389	Pathogenic/Likely pathogenic	Premature ovarian insufficiency Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA371658288	rs_1554563822	3 SubmittersRCV000656225 RCV001387363 RCV004721470
NM_002485.5(NBN):c.832T>G (p.Ser278Ala)	SNV Germline	Chr8:89970428	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Malignant tumor of breast Hereditary cancer	Criteria Provided Conflicting Classifications	CA371658496	rs_1225178489	7 SubmittersRCV000589829 RCV000772494 RCV000701071 RCV001355653 RCV003492114
NM_002485.5(NBN):c.175C>T (p.Gln59Ter)	SNV Germline	Chr8:89981520	Pathogenic/Likely pathogenic	Hereditary breast ovarian cancer syndrome Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Aplastic anemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA371662638	rs_1554568427	6 SubmittersRCV000586448 RCV000688264 RCV001013002 RCV003471944 RCV003133388
NM_002485.5(NBN):c.584+6T>C	SNV Germline	Chr8:89978214	Conflicting classifications of pathogenicity	not specified Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA658797119	rs_1554566602	4 SubmittersRCV000612983 RCV000698403 RCV001284317
NM_002485.5(NBN):c.2188C>T (p.Gln730Ter)	SNV Germline	Chr8:89937072	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371674836	rs_1554554267	1 SubmittersRCV000636698
NM_002485.5(NBN):c.2071-2A>C	SNV Germline	Chr8:89943368	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA4802608	rs_775397477	1 SubmittersRCV000636778
NM_002485.5(NBN):c.1715C>T (p.Pro572Leu)	SNV Germline	Chr8:89953374	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Aplastic anemia Condition: not provided	Criteria Provided Conflicting Classifications	CA371655253	rs_1554558303	6 SubmittersRCV000636718 RCV001525100 RCV004568399 RCV002464275
NM_002485.5(NBN):c.1750G>T (p.Glu584Ter)	SNV Germline	Chr8:89953339	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371655176	rs_1554558270	1 SubmittersRCV000636737
NM_002485.5(NBN):c.1483C>T (p.Pro495Ser)	SNV Germline	Chr8:89953606	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA371655760	rs_747027298	2 SubmittersRCV000636740 RCV004025480
NM_002485.5(NBN):c.1124+2T>G	SNV Germline	Chr8:89958723	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371656551	rs_1554560352	1 SubmittersRCV000636717
NM_002485.5(NBN):c.818C>T (p.Thr273Ile)	SNV Germline	Chr8:89970442	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA371658541	rs_1554563912	4 SubmittersRCV000636779 RCV001525443
NM_002485.5(NBN):c.2238C>G (p.Tyr746Ter)	SNV Unknown	Chr8:89935609	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	No Assertion Criteria Provided	CA371674717	rs_751570713	1 SubmittersRCV000670725
NM_002485.5(NBN):c.585-1G>A	SNV Germline	Chr8:89971291	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA371659347	rs_1394578008	3 SubmittersRCV000666840 RCV001592845
NM_002485.5(NBN):c.995-2A>C	SNV Germline	Chr8:89958856	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA371656828	rs_876659521	3 SubmittersRCV000669315 RCV004026108
NM_002485.5(NBN):c.1622C>T (p.Ala541Val)	SNV Germline	Chr8:89953467	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Aplastic anemia	Criteria Provided Conflicting Classifications	CA181257881	rs_876658501	3 SubmittersRCV000687714 RCV001805803 RCV003465562
NM_002485.5(NBN):c.646C>A (p.Gln216Lys)	SNV Germline	Chr8:89971229	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA181276755	rs_769416	3 SubmittersRCV000688542 RCV001025298
NM_002485.5(NBN):c.1670C>T (p.Ala557Val)	SNV Germline	Chr8:89953419	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA371655353	rs_1286743873	2 SubmittersRCV000688543 RCV002397380
NM_002485.5(NBN):c.1406A>G (p.Asp469Gly)	SNV Germline	Chr8:89953683	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA371655921	rs_780365310	5 SubmittersRCV000697437 RCV001176913
NM_002485.5(NBN):c.1280C>G (p.Pro427Arg)	SNV Germline	Chr8:89955400	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA4802769	rs_778881191	3 SubmittersRCV000700776 RCV001805815
NM_002485.5(NBN):c.1153A>G (p.Lys385Glu)	SNV Germline	Chr8:89955527	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Ovarian cancer Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA371656478	rs_1563532612	3 SubmittersRCV000704263 RCV003153818 RCV004649287
NM_002485.5(NBN):c.585-2A>G	SNV Germline	Chr8:89971292	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Condition: not provided Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts	CA4802924	rs_772005832	5 SubmittersRCV000700477 RCV002352187 RCV004588139 RCV003465613
NM_002485.5(NBN):c.222T>G (p.Tyr74Ter)	SNV Germline	Chr8:89981473	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371662537	rs_1563581193	1 SubmittersRCV000696443
NM_002485.5(NBN):c.36A>T (p.Gly12=)	SNV Germline	Chr8:89984526	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA461831592	rs_1554569658	3 SubmittersRCV000707509 RCV002343576
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.958A>G (p.Lys320Glu)	SNV Germline	Chr8:89964446	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency not specified	Criteria Provided Conflicting Classifications	CA371656951	rs_1563548624	3 SubmittersRCV000773117 RCV001800872 RCV002249473
NM_002485.5(NBN):c.786C>G (p.Phe262Leu)	SNV Germline	Chr8:89970474	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA371658650	rs_372159380	3 SubmittersRCV000775829 RCV001302594
NM_002485.5(NBN):c.692A>G (p.Asn231Ser)	SNV Germline	Chr8:89971183	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA371658940	rs_1309274168	4 SubmittersRCV000773378 RCV000809097 RCV000999052
NM_002485.5(NBN):c.474C>T (p.Thr158=)	SNV Germline	Chr8:89980740	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA461831333	rs_1563578527	2 SubmittersRCV000774889 RCV001474735
NM_002485.5(NBN):c.297T>C (p.Phe99=)	SNV Germline	Chr8:89981398	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA461831436	rs_1563580668	4 SubmittersRCV000772238 RCV001413593 RCV002225725
NM_002485.5(NBN):c.896+1G>T	SNV Germline	Chr8:89970363	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA4802876	rs_778306619	1 SubmittersRCV001377438
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.1693C>T (p.Gln565Ter)	SNV Germline	Chr8:89953396	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371655306	rs_1586053399	1 SubmittersRCV000792089
NM_002485.5(NBN):c.1448T>G (p.Ile483Arg)	SNV Germline	Chr8:89953641	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA371655829	rs_876658347	2 SubmittersRCV000801918 RCV002388484
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.1253C>A (p.Ser418Ter)	SNV Germline	Chr8:89955427	Pathogenic	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA371656261	rs_1554559212	2 SubmittersRCV000819368 RCV002415924
NM_002485.5(NBN):c.1244G>A (p.Ser415Asn)	SNV Germline	Chr8:89955436	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA4802776	rs_764832388	3 SubmittersRCV000792228 RCV001010512
NM_002485.5(NBN):c.966C>G (p.Tyr322Ter)	SNV Germline	Chr8:89964438	Pathogenic	Microcephaly, normal intelligence and immunodeficiency Breast carcinoma	Criteria Provided Single Submitter	CA371656921	rs_748453607	2 SubmittersRCV000804176 RCV001564018
NM_002485.5(NBN):c.897G>A (p.Arg299=)	SNV Germline	Chr8:89964507	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA4802852	rs_779798363	5 SubmittersRCV001018584 RCV000816520 RCV001564380
NM_002485.5(NBN):c.250C>T (p.Gln84Ter)	SNV Germline	Chr8:89981445	Pathogenic	Microcephaly, normal intelligence and immunodeficiency Gastric cancer Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA371662477	rs_1586108714	3 SubmittersRCV000804317 RCV003166237 RCV004028167
NM_002485.5(NBN):c.241G>T (p.Glu81Ter)	SNV Germline	Chr8:89981454	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371662498	rs_1064795037	1 SubmittersRCV000794512
NM_002485.5(NBN):c.897-2A>G	SNV Germline	Chr8:89964509	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371657180	rs_864622090	1 SubmittersRCV000793764
NM_002485.5(NBN):c.896+2T>C	SNV Germline	Chr8:89970362	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Aplastic anemia	Criteria Provided Conflicting Classifications	CA371658121	rs_754659423	3 SubmittersRCV000815940 RCV002442734 RCV003467475
NM_002485.5(NBN):c.1845+2T>C	SNV Germline	Chr8:89953242	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371654955	rs_1586052622	1 SubmittersRCV000800755
NM_002485.5(NBN):c.2071-8T>C	SNV Germline	Chr8:89943374	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA856704671	rs_1178683426	3 SubmittersRCV000875631 RCV004997445
NM_002485.5(NBN):c.270T>A (p.Thr90=)	SNV Germline	Chr8:89981425	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA461831455	rs_776469548	3 SubmittersRCV000925079 RCV003478581 RCV003169326
NM_002485.5(NBN):c.1845+10A>G	SNV Germline	Chr8:89953234	Conflicting classifications of pathogenicity	Condition: not provided not specified Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA181257532	rs_570914185	4 SubmittersRCV000927165 RCV001818889 RCV001401955
NM_002485.5(NBN):c.897-5A>G	SNV Germline	Chr8:89964512	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA915945784	rs_1586076321	2 SubmittersRCV000927067 RCV002445037
NM_002485.5(NBN):c.584+2T>C	SNV Germline	Chr8:89978218	Pathogenic/Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts	CA371660050	rs_1586101154	4 SubmittersRCV001004533 RCV001024591 RCV003467575
NM_002485.5(NBN):c.1248G>A (p.Met416Ile)	SNV Germline	Chr8:89955432	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA371656272	rs_756572268	3 SubmittersRCV001010556 RCV002295316
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.800G>A (p.Gly267Glu)	SNV Germline	Chr8:89970460	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA4802883	rs_747837246	3 SubmittersRCV001027059 RCV001066171
NM_002485.5(NBN):c.320G>A (p.Arg107Lys)	SNV Germline	Chr8:89981375	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA371662246	rs_1345924774	3 SubmittersRCV001228207 RCV001019241
NM_002485.5(NBN):c.2234+1G>T	SNV Germline	Chr8:89937025	Likely pathogenic	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Multiple Submitters No Conflicts	CA371674733	rs_1586024147	2 SubmittersRCV001014894 RCV001236246
NM_002485.5(NBN):c.2071-4A>T	SNV Germline	Chr8:89943370	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA913187593	rs_746994234	5 SubmittersRCV001014289 RCV001800923
NM_002485.5(NBN):c.897-1G>A	SNV Germline	Chr8:89964508	Likely pathogenic	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Multiple Submitters No Conflicts	CA371657176	rs_1586076299	2 SubmittersRCV001018577 RCV001873311
NM_002485.5(NBN):c.585-5T>A	SNV Germline	Chr8:89971295	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA915945794	rs_1586088968	2 SubmittersRCV001024605 RCV003617889
NM_002485.5(NBN):c.2173C>T (p.Gln725Ter)	SNV Germline	Chr8:89943264	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371675305	rs_1810030774	1 SubmittersRCV001071287
NM_002485.5(NBN):c.1645A>T (p.Lys549Ter)	SNV Germline	Chr8:89953444	Pathogenic	Microcephaly, normal intelligence and immunodeficiency Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts	CA371655412	rs_1810540992	4 SubmittersRCV001060946 RCV001270950 RCV002402432 RCV003473674
NM_002485.5(NBN):c.1496C>G (p.Ser499Ter)	SNV Germline	Chr8:89953593	Pathogenic/Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency Aplastic anemia Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA371655738	rs_772411713	3 SubmittersRCV001057404 RCV003467785 RCV004031809
NM_002485.5(NBN):c.1286A>C (p.Tyr429Ser)	SNV Germline	Chr8:89955394	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA371656194	rs_370121348	2 SubmittersRCV001051883 RCV004639446
NM_002485.5(NBN):c.604G>T (p.Glu202Ter)	SNV Germline	Chr8:89971271	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371659304	rs_1811506628	1 SubmittersRCV001067860
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.1846-1G>T	SNV Germline	Chr8:89947893	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371677329	rs_61753717	1 SubmittersRCV001043646
NM_002485.5(NBN):c.2234+1G>A	SNV Germline	Chr8:89937025	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371674734	rs_1586024147	1 SubmittersRCV001062133
NM_002485.5(NBN):c.1886A>G (p.Asp629Gly)	SNV Germline	Chr8:89947852	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA371677238	rs_1586043675	2 SubmittersRCV001162815 RCV004639487
NM_002485.5(NBN):c.567G>A (p.Gln189=)	SNV Germline	Chr8:89978237	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA461831211	rs_1203807404	3 SubmittersRCV001161378
NM_002485.5(NBN):c.38-1G>A	SNV Germline	Chr8:89982856	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371663768	rs_1812140936	1 SubmittersRCV005236658
NM_002485.5(NBN):c.1652G>A (p.Arg551Lys)	SNV Germline	Chr8:89953437	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Aplastic anemia	Criteria Provided Conflicting Classifications	CA371655396	rs_1586053587	3 SubmittersRCV001191742 RCV001863040 RCV003469306
NM_002485.5(NBN):c.1551C>A (p.Asn517Lys)	SNV Germline	Chr8:89953538	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA371655615	rs_876658744	3 SubmittersRCV001187829 RCV001323375
NM_002485.5(NBN):c.1220G>A (p.Cys407Tyr)	SNV Germline	Chr8:89955460	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA371656334	rs_1473253247	4 SubmittersRCV001178736 RCV001341643
NM_002485.5(NBN):c.115C>T (p.Gln39Ter)	SNV Germline	Chr8:89982778	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Multiple Submitters No Conflicts	CA371663153	rs_377730553	2 SubmittersRCV001186594 RCV001862938
NM_002485.5(NBN):c.584+1G>A	SNV Germline	Chr8:89978219	Likely pathogenic	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Multiple Submitters No Conflicts	CA371660058	rs_1811862598	2 SubmittersRCV001185847 RCV001862922
NM_002485.5(NBN):c.2185-7T>G	SNV Germline	Chr8:89937082	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA913187588	rs_1563497932	2 SubmittersRCV001428981
NM_002485.5(NBN):c.1846-13T>A	SNV Germline	Chr8:89947905	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA913187605	rs_1810272926	2 SubmittersRCV001186082 RCV003770074
NM_002485.5(NBN):c.1802A>G (p.Asp601Gly)	SNV Germline	Chr8:89953287	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA4802683	rs_553571469	2 SubmittersRCV001217851 RCV002411808
NM_002485.5(NBN):c.436G>T (p.Glu146Ter)	SNV Germline	Chr8:89980778	Pathogenic	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Multiple Submitters No Conflicts	CA371661690	rs_1812023357	2 SubmittersRCV002327522 RCV001220913
NM_002485.5(NBN):c.1845T>C (p.Ser615=)	SNV Germline	Chr8:89953244	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA462114528	rs_1810519877	2 SubmittersRCV001206590 RCV002411760
NM_002485.5(NBN):c.1741C>T (p.Gln581Ter)	SNV Germline	Chr8:89953348	Pathogenic/Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency Aplastic anemia Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA371655198	rs_1337679118	5 SubmittersRCV001204081 RCV003473744 RCV002411748
NM_002485.5(NBN):c.359T>G (p.Leu120Ter)	SNV Germline	Chr8:89980855	Pathogenic/Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts	CA371662087	rs_1563579387	3 SubmittersRCV001206069 RCV003346362 RCV003469334
NM_002485.5(NBN):c.322A>G (p.Ile108Val)	SNV Germline	Chr8:89980892	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA371662166	rs_1286492027	2 SubmittersRCV001213378 RCV002322033
NM_002485.5(NBN):c.995-1G>T	SNV Germline	Chr8:89958855	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371656825	rs_1554560523	1 SubmittersRCV001214272
NM_002485.5(NBN):c.1849G>T (p.Glu617Ter)	SNV Germline	Chr8:89947889	Pathogenic/Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA371677319	rs_766602873	2 SubmittersRCV001238488 RCV003478747
NM_002485.5(NBN):c.1516C>T (p.Gln506Ter)	SNV Germline	Chr8:89953573	Pathogenic	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA371655690	rs_876658535	2 SubmittersRCV001227877 RCV003294092
NM_002485.5(NBN):c.20C>T (p.Ala7Val)	SNV Germline	Chr8:89984542	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA181286152	rs_781057669	2 SubmittersRCV001236445 RCV002418811
NM_002485.5(NBN):c.1727T>C (p.Ile576Thr)	SNV Germline	Chr8:89953362	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA371655228	rs_1255733657	2 SubmittersRCV001248747 RCV002402794
NM_002485.5(NBN):c.1393A>T (p.Lys465Ter)	SNV Germline	Chr8:89955287	Pathogenic	Breast and/or ovarian cancer Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371655956	rs_1563530658	2 SubmittersRCV001270949 RCV003617920
NM_002485.5(NBN):c.5G>A (p.Trp2Ter)	SNV Germline	Chr8:89984557	Pathogenic	Breast and/or ovarian cancer Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371664218	rs_1812244679	2 SubmittersRCV001270990 RCV002537743
NM_002485.5(NBN):c.189C>T (p.Ile63=)	SNV Germline	Chr8:89981506	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA461831500	rs_1554568383	4 SubmittersRCV001284191 RCV001524765 RCV001426679
NM_002485.5(NBN):c.584G>A (p.Ser195Asn)	SNV Germline	Chr8:89978220	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA371660064	rs_1811862674	4 SubmittersRCV001310162 RCV001368080 RCV003478769
NM_002485.5(NBN):c.2184+2T>G	SNV Germline	Chr8:89943251	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA181273234	rs_75823099	2 SubmittersRCV001379405 RCV002432064
NM_002485.5(NBN):c.2184+2T>A	SNV Germline	Chr8:89943251	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371675238	rs_75823099	1 SubmittersRCV001379478
NM_002485.5(NBN):c.2071-2A>G	SNV Germline	Chr8:89943368	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371675957	rs_775397477	1 SubmittersRCV001378341
NM_002485.5(NBN):c.1914+2T>G	SNV Germline	Chr8:89947822	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371677175	rs_2129659522	1 SubmittersRCV001377502
NM_002485.5(NBN):c.995G>A (p.Gly332Glu)	SNV Germline	Chr8:89958854	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371656824	rs_2129747182	1 SubmittersRCV001377833
NM_002485.5(NBN):c.702+2T>C	SNV Germline	Chr8:89971171	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts	CA371658912	rs_1811497703	2 SubmittersRCV001377651 RCV003473905
NM_002485.5(NBN):c.702+2T>A	SNV Germline	Chr8:89971171	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371658913	rs_1811497703	1 SubmittersRCV001376929
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.2089G>T (p.Gly697Ter)	SNV Germline	Chr8:89943348	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371675821	rs_1038132485	1 SubmittersRCV001387991
NM_002485.5(NBN):c.1993A>T (p.Lys665Ter)	SNV Germline	Chr8:89946217	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371676481	rs_1554556544	1 SubmittersRCV001388858
NM_002485.5(NBN):c.1496C>A (p.Ser499Ter)	SNV Germline	Chr8:89953593	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371655739	rs_772411713	1 SubmittersRCV001387053
NM_002485.5(NBN):c.1417C>T (p.Gln473Ter)	SNV Germline	Chr8:89953672	Pathogenic	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA371655896	rs_755805461	3 SubmittersRCV001385912 RCV004945110
NM_002485.5(NBN):c.1192C>T (p.Gln398Ter)	SNV Germline	Chr8:89955488	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371656388	rs_2129721263	1 SubmittersRCV001390505
NM_002485.5(NBN):c.1190C>G (p.Ser397Ter)	SNV Germline	Chr8:89955490	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371656391	rs_1554559308	1 SubmittersRCV001388920
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_002485.5(NBN):c.580G>T (p.Glu194Ter)	SNV Germline	Chr8:89978224	Pathogenic/Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Condition: not provided Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts	CA371660081	rs_1554566610	4 SubmittersRCV001380565 RCV002357286 RCV003127859 RCV003469651
NM_002485.5(NBN):c.48C>G (p.Tyr16Ter)	SNV Germline	Chr8:89982845	Pathogenic/Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency NBN-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA371663676	rs_2129926091	2 SubmittersRCV001385181 RCV003399206
NM_002485.5(NBN):c.481-7A>G	SNV Germline	Chr8:89978330	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA2499219439	rs_2129890380	2 SubmittersRCV001395703 RCV004998871
NM_002485.5(NBN):c.2071-6C>A	SNV Germline	Chr8:89943372	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA583378851	rs_768670249	2 SubmittersRCV001427677
NM_002485.5(NBN):c.790T>C (p.Leu264=)	SNV Germline	Chr8:89970470	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA461830837	rs_2129829667	3 SubmittersRCV002420990 RCV001438933 RCV004783969
NM_002485.5(NBN):c.1332T>C (p.Asp444=)	SNV Germline	Chr8:89955348	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA462114894	rs_1810653364	2 SubmittersRCV001454518 RCV004998907
NM_002485.5(NBN):c.1191A>G (p.Ser397=)	SNV Germline	Chr8:89955489	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA462115028	rs_2129721280	3 SubmittersRCV001451978 RCV002342001 RCV003478839
NM_002485.5(NBN):c.585-5T>C	SNV Germline	Chr8:89971295	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1116461963	rs_1586088968	3 SubmittersRCV001505889 RCV001525104
NM_002485.5(NBN):c.428G>A (p.Trp143Ter)	SNV Germline	Chr8:89980786	Likely pathogenic	Condition: not provided Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371661731	rs_2129908974	2 SubmittersRCV001797182 RCV005614664
NM_002485.5(NBN):c.217A>T (p.Lys73Ter)	SNV Germline	Chr8:89981478	Pathogenic/Likely pathogenic	Aplastic anemia Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Multiple Submitters No Conflicts	CA371662549	rs_2129915767	2 SubmittersRCV003470849 RCV002568061
NM_002485.5(NBN):c.1492C>A (p.Pro498Thr)	SNV Germline	Chr8:89953597	Conflicting classifications of pathogenicity	Condition: not provided Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA181258037	rs_915825113	4 SubmittersRCV001568147 RCV001832777 RCV004039356
NM_002485.5(NBN):c.1147G>T (p.Glu383Ter)	SNV Germline	Chr8:89955533	Pathogenic/Likely pathogenic	Ovarian carcinoma Microcephaly, normal intelligence and immunodeficiency Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts	CA371656491	rs_772909239	3 SubmittersRCV001648486 RCV001873820 RCV003470874
NM_002485.5(NBN):c.481-5T>C	SNV Germline	Chr8:89978328	Conflicting classifications of pathogenicity	Condition: not provided Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA2573053061	rs_2129890359	2 SubmittersRCV001772463 RCV002074009
NM_002485.5(NBN):c.839C>T (p.Thr280Ile)	SNV Germline	Chr8:89970421	Conflicting classifications of pathogenicity	Condition: not provided Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA371658469	rs_2129828243	3 SubmittersRCV001763149 RCV002540321 RCV002440854
NM_002485.5(NBN):c.2260A>C (p.Arg754=)	SNV Germline	Chr8:89935587	Conflicting classifications of pathogenicity	Condition: not provided Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA461836136	rs_2130735641	2 SubmittersRCV001771302 RCV002540531
NM_002485.5(NBN):c.2070+1G>T	SNV Germline	Chr8:89946139	Likely pathogenic	Condition: not provided Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Multiple Submitters No Conflicts	CA371676309	rs_1554556454	2 SubmittersRCV001753232 RCV003617939
NM_002485.5(NBN):c.2140C>A (p.Arg714=)	SNV Germline	Chr8:89943297	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA461837508	rs_730881864	3 SubmittersRCV001819270 RCV004040971 RCV003507398
NM_002485.5(NBN):c.994+2T>C	SNV Germline	Chr8:89964408	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA371656832	rs_1586075690	2 SubmittersRCV002026037 RCV002386888
NM_002485.5(NBN):c.1982C>G (p.Ser661Ter)	SNV Germline	Chr8:89946228	Pathogenic	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA371676512	rs_1810183784	2 SubmittersRCV001897734 RCV004041330
NM_002485.5(NBN):c.298G>T (p.Gly100Ter)	SNV Germline	Chr8:89981397	Pathogenic	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA371662340	rs_2129914287	2 SubmittersRCV001864972 RCV002440930
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.171+1G>T	SNV Germline	Chr8:89982721	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371662859	rs_931715719	1 SubmittersRCV002034356
NM_002485.5(NBN):c.171+1G>C	SNV Germline	Chr8:89982721	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371662860	rs_931715719	1 SubmittersRCV002034449
NM_002485.5(NBN):c.1583T>G (p.Leu528Ter)	SNV Germline	Chr8:89953506	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371655542	rs_2129700612	1 SubmittersRCV001908318
NM_002485.5(NBN):c.994G>A (p.Gly332Arg)	SNV Germline	Chr8:89964410	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome not specified	Criteria Provided Conflicting Classifications	CA371656838	rs_1437392838	3 SubmittersRCV002019619 RCV003348737 RCV005238156
NM_002485.5(NBN):c.278C>A (p.Ser93Ter)	SNV Germline	Chr8:89981417	Pathogenic/Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts	CA371662420	rs_12721593	2 SubmittersRCV001884264 RCV003470998
NM_002485.5(NBN):c.172-2A>T	SNV Germline	Chr8:89981525	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371662652	rs_2129916685	1 SubmittersRCV001961761
NM_002485.5(NBN):c.1889C>A (p.Ser630Ter)	SNV Germline	Chr8:89947849	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts	CA371677231	rs_1810267412	3 SubmittersRCV002406960 RCV001947519 RCV004571457
NM_002485.5(NBN):c.481-2A>C	SNV Germline	Chr8:89978325	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371660743	rs_751567476	1 SubmittersRCV001971340
NM_002485.5(NBN):c.966C>A (p.Tyr322Ter)	SNV Germline	Chr8:89964438	Pathogenic	Microcephaly, normal intelligence and immunodeficiency Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts	CA371656922	rs_748453607	3 SubmittersRCV001994742 RCV003475215
NM_002485.5(NBN):c.1028C>G (p.Ser343Ter)	SNV Germline	Chr8:89958821	Pathogenic	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA371656756	rs_1810856747	2 SubmittersRCV002002429 RCV002386816
NM_002485.5(NBN):c.1895G>A (p.Trp632Ter)	SNV Germline	Chr8:89947843	Pathogenic	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA371677222	rs_2129659855	2 SubmittersRCV001999711 RCV002407175
NM_002485.5(NBN):c.172-1G>A	SNV Germline	Chr8:89981524	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371662649	rs_1391598284	1 SubmittersRCV002048065
NM_002485.5(NBN):c.1190C>A (p.Ser397Ter)	SNV Germline	Chr8:89955490	Pathogenic/Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Multiple Submitters No Conflicts	CA371656392	rs_1554559308	2 SubmittersRCV001956253
NM_002485.5(NBN):c.2070+2T>A	SNV Germline	Chr8:89946138	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371676308	rs_786203223	1 SubmittersRCV001996041
NM_002485.5(NBN):c.143T>G (p.Leu48Ter)	SNV Germline	Chr8:89982750	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371662994	rs_2129924518	1 SubmittersRCV001959178
NM_002485.5(NBN):c.1398-2A>G	SNV Germline	Chr8:89953693	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371655940	rs_2129704501	1 SubmittersRCV002010366
NM_002485.5(NBN):c.742G>T (p.Glu248Ter)	SNV Germline	Chr8:89970518	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371658809	rs_1811464271	1 SubmittersRCV001940815
NM_002485.5(NBN):c.1837A>T (p.Lys613Ter)	SNV Germline	Chr8:89953252	Pathogenic/Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome Aplastic anemia	Criteria Provided Multiple Submitters No Conflicts	CA371654977	rs_1554558199	3 SubmittersRCV001863317 RCV002406928 RCV004571430
NM_002485.5(NBN):c.2059A>T (p.Lys687Ter)	SNV Germline	Chr8:89946151	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371676338	rs_2130763590	1 SubmittersRCV001996808
NM_002485.5(NBN):c.1125-11T>G	SNV Germline	Chr8:89955566	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA583843910	rs_1373365760	2 SubmittersRCV002202436 RCV003234167
NM_002485.5(NBN):c.995-4A>G	SNV Germline	Chr8:89958858	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA2573143360	rs_2129747280	2 SubmittersRCV002113593 RCV004999654
NM_002485.5(NBN):c.2185-12T>G	SNV Germline	Chr8:89937087	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA181268811	rs_373516568	2 SubmittersRCV002099636 RCV002258359
NM_002485.5(NBN):c.1891C>T (p.Leu631=)	SNV Germline	Chr8:89947847	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA461839139	rs_1064793477	2 SubmittersRCV002117124 RCV002409504
NM_002485.5(NBN):c.1125-12C>G	SNV Germline	Chr8:89955567	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA1116457414	rs_1810676263	2 SubmittersRCV002257309 RCV003774785
NM_002485.5(NBN):c.38-12A>G	SNV Germline	Chr8:89982867	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA2573143429	rs_773524364	2 SubmittersRCV002257310 RCV003101427
NM_002485.5(NBN):c.769G>T (p.Glu257Ter)	SNV Germline	Chr8:89970491	Pathogenic/Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA371658710	rs_878854516	2 SubmittersRCV002306733 RCV003308128
NM_002485.5(NBN):c.2047A>T (p.Lys683Ter)	SNV Unknown	Chr8:89946163	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371676367	rs_2488201562	1 SubmittersRCV002309821
NM_002485.5(NBN):c.307G>T (p.Gly103Ter)	SNV Unknown	Chr8:89981388	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371662303	rs_2129914127	1 SubmittersRCV002307901
NM_002485.5(NBN):c.1307T>A (p.Leu436Ter)	SNV Unknown	Chr8:89955373	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371656152	rs_2488243337	1 SubmittersRCV002308118
NM_002485.5(NBN):c.313A>T (p.Lys105Ter)	SNV Unknown	Chr8:89981382	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371662278	rs_2488359906	1 SubmittersRCV002310521
NM_002485.5(NBN):c.1640C>A (p.Ser547Ter)	SNV Unknown	Chr8:89953449	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371655424	rs_1418547527	1 SubmittersRCV002308431
NM_002485.5(NBN):c.480+2T>G	SNV Germline	Chr8:89980732	Likely pathogenic	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Multiple Submitters No Conflicts	CA371661414	rs_2488355261	2 SubmittersRCV002337877 RCV003096473
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_002485.5(NBN):c.1036G>T (p.Val346Leu)	SNV Germline	Chr8:89958813	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Conflicting Classifications	CA371656741	rs_200297914	2 SubmittersRCV002394401 RCV005097521
NM_002485.5(NBN):c.2152G>T (p.Glu718Ter)	SNV Germline	Chr8:89943285	Pathogenic	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Multiple Submitters No Conflicts	CA371675405	rs_1217913746	2 SubmittersRCV003161760 RCV003089653
NM_002485.5(NBN):c.1480C>T (p.Gln494Ter)	SNV Germline	Chr8:89953609	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371655767	rs_587781557	1 SubmittersRCV002797046
NM_002485.5(NBN):c.1896G>A (p.Trp632Ter)	SNV Germline	Chr8:89947842	Pathogenic	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Multiple Submitters No Conflicts	CA371677217	rs_1221760506	2 SubmittersRCV003167840 RCV002875551
NM_002485.5(NBN):c.1125-1G>C	SNV Germline	Chr8:89955556	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371656546	rs_1057517102	1 SubmittersRCV002894487
NM_002485.5(NBN):c.1434C>A (p.Cys478Ter)	SNV Germline	Chr8:89953655	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371655857	rs_1060503473	1 SubmittersRCV002894701
NM_002485.5(NBN):c.855T>A (p.Cys285Ter)	SNV Germline	Chr8:89970405	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371658374	rs_2129827835	1 SubmittersRCV003029514
NM_002485.5(NBN):c.1583T>A (p.Leu528Ter)	SNV Germline	Chr8:89953506	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371655544	rs_2129700612	1 SubmittersRCV003032194
NM_002485.5(NBN):c.1914+1G>T	SNV Germline	Chr8:89947823	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371677178	rs_2488209092	1 SubmittersRCV003049650
NM_002485.5(NBN):c.1845+2T>G	SNV Germline	Chr8:89953242	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371654957	rs_1586052622	1 SubmittersRCV003047186
NM_002485.5(NBN):c.2185-5G>A	SNV Germline	Chr8:89937080	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA583377702	rs_1483820975	2 SubmittersRCV003618055 RCV003172487
NM_002485.5(NBN):c.1528G>T (p.Glu510Ter)	SNV Germline	Chr8:89953561	Pathogenic	Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Multiple Submitters No Conflicts	CA371655663	rs_2488232901	2 SubmittersRCV003172490 RCV003507483
NM_002485.5(NBN):c.1222A>T (p.Lys408Ter)	SNV Germline	Chr8:89955458	Pathogenic/Likely pathogenic	Aplastic anemia Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Multiple Submitters No Conflicts	CA371656328	rs_34120922	2 SubmittersRCV003470300 RCV003618081
NM_002485.5(NBN):c.1397+1G>A	SNV Germline	Chr8:89955282	Conflicting classifications of pathogenicity	Aplastic anemia Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA4802757	rs_774256651	3 SubmittersRCV003476516 RCV003618082 RCV004364787
NM_002485.5(NBN):c.2071-1G>T	SNV Germline	Chr8:89943367	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371675946	rs_786201965	1 SubmittersRCV003507550
NM_002485.5(NBN):c.321-1G>A	SNV Germline	Chr8:89980894	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371662180	rs_2488357436	1 SubmittersRCV003508341
NM_002485.5(NBN):c.2071-2A>T	SNV Germline	Chr8:89943368	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371675953	rs_775397477	1 SubmittersRCV003507081
NM_002485.5(NBN):c.1374C>G (p.Tyr458Ter)	SNV Germline	Chr8:89955306	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371655999	rs_2129717018	1 SubmittersRCV003507753
NM_002485.5(NBN):c.700C>T (p.Gln234Ter)	SNV Germline	Chr8:89971175	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371658922	rs_1811498255	1 SubmittersRCV003618236
NM_002485.5(NBN):c.1221C>A (p.Cys407Ter)	SNV Germline	Chr8:89955459	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371656331	rs_2129720470	1 SubmittersRCV003618281
NM_002485.5(NBN):c.584+1G>T	SNV Germline	Chr8:89978219	Likely pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371660055	rs_1811862598	1 SubmittersRCV003618364
NM_002485.5(NBN):c.649G>T (p.Glu217Ter)	SNV Germline	Chr8:89971226	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371659124	rs_760275251	1 SubmittersRCV003618538
NM_002485.5(NBN):c.489T>A (p.Cys163Ter)	SNV Germline	Chr8:89978315	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371660699	rs_2488344461	1 SubmittersRCV003618619
NM_002485.5(NBN):c.875C>G (p.Ser292Ter)	SNV Germline	Chr8:89970385	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter	CA371658264	rs_1811450946	1 SubmittersRCV003618717
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
NM_002485.5(NBN):c.274A>T (p.Lys92Ter)	SNV Germline	Chr8:89981421	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter			1 SubmittersRCV005127719
NM_002485.5(NBN):c.2079T>A (p.Tyr693Ter)	SNV Germline	Chr8:89943358	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter			1 SubmittersRCV005137700
NM_002485.5(NBN):c.517A>T (p.Lys173Ter)	SNV Germline	Chr8:89978287	Pathogenic	Microcephaly, normal intelligence and immunodeficiency	Criteria Provided Single Submitter			1 SubmittersRCV005206014

SNV
Germline

Chr8:89964428

Pathogenic

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA197104

rs_121908973

6 SubmittersRCV000007359 RCV000166946

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_002485.5(NBN):c.1089C>A (p.Tyr363Ter)

SNV
Germline

Chr8:89958760

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA254010

rs_121908974

6 SubmittersRCV000007362 RCV003329227 RCV003472997

NM_002485.5(NBN):c.643C>T (p.Arg215Trp)

SNV
Germline

Chr8:89971232

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
NBN-related disorder
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA160990

rs_34767364

26 SubmittersRCV000007363 RCV000115802 RCV000121621 RCV000487932 RCV003891431 RCV005623282

NM_002485.5(NBN):c.*401C>G

SNV
Germline

Chr8:89935181

Conflicting classifications of pathogenicity

Condition: not provided
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA230725

rs_104895030

3 SubmittersRCV000114873 RCV000316124

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_002485.5(NBN):c.1035C>T (p.Gly345=)

SNV
Germline

Chr8:89958814

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Microcephaly, normal intelligence and immunodeficiency
NBN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA287892

rs_146605798

12 SubmittersRCV000115775 RCV000587475 RCV001081028 RCV003925115 RCV001818276

NM_002485.5(NBN):c.1036G>A (p.Val346Met)

SNV
Germline

Chr8:89958813

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA287895

rs_200297914

17 SubmittersRCV000115776 RCV000212741 RCV000589164 RCV001082179 RCV001293998 RCV001255161 RCV001355371 RCV003945047

NM_002485.5(NBN):c.1091T>C (p.Val364Ala)

SNV
Germline

Chr8:89958758

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
not specified

Criteria Provided
Conflicting Classifications

CA287898

rs_370229163

6 SubmittersRCV000115777 RCV000217684 RCV000700024 RCV001818277

NM_002485.5(NBN):c.1238A>G (p.Asn413Ser)

SNV
Germline

Chr8:89955442

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA287901

rs_529340553

7 SubmittersRCV000222002 RCV000589729 RCV001087448

NM_002485.5(NBN):c.1317A>G (p.Ile439Met)

SNV
Germline

Chr8:89955363

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA200704

rs_28538230

12 SubmittersRCV000115781 RCV000173760 RCV001082062 RCV001292773 RCV001355697 RCV003935104 RCV001719859

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.1777C>G (p.Pro593Ala)

SNV
Germline

Chr8:89953312

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Microcephaly, normal intelligence and immunodeficiency
NBN-related disorder

Criteria Provided
Conflicting Classifications

CA287910

rs_146989944

11 SubmittersRCV000115785 RCV000212750 RCV000656929 RCV000988083 RCV003891614

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.254A>G (p.Asn85Ser)

SNV
Germline

Chr8:89981441

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA287928

rs_587780095

8 SubmittersRCV000115791 RCV000214236 RCV000231493 RCV005364995

NM_002485.5(NBN):c.283G>A (p.Asp95Asn)

SNV
Germline

Chr8:89981412

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA160975

rs_61753720

23 SubmittersRCV000115792 RCV000121616 RCV000123216 RCV000588621

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.758C>T (p.Thr253Ile)

SNV
Germline

Chr8:89970502

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
NBN-related disorder

Criteria Provided
Conflicting Classifications

CA160999

rs_61754967

13 SubmittersRCV000115805 RCV000121624 RCV000168183 RCV000656925 RCV003952554

NM_002485.5(NBN):c.788T>C (p.Phe263Ser)

SNV
Germline

Chr8:89970472

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
not specified
Condition: not provided
Hereditary cancer
NBN-related disorder

Criteria Provided
Conflicting Classifications

CA287950

rs_147626427

11 SubmittersRCV000115806 RCV000199794 RCV000212737 RCV000656926 RCV003492492 RCV004745190

NM_002485.5(NBN):c.321-2A>G

SNV
Germline

Chr8:89980895

Likely pathogenic

not specified
Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA156443

rs_587777931

3 SubmittersRCV000119854 RCV003162555 RCV002514610

NM_002485.5(NBN):c.1405G>T (p.Asp469Tyr)

SNV
Germline

Chr8:89953684

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA160966

rs_148205441

13 SubmittersRCV000121613 RCV000129788 RCV000167890 RCV000588734 RCV002225383 RCV003389699 RCV003474728 RCV005235011

NM_002485.5(NBN):c.104T>C (p.Ile35Thr)

SNV
Germline

Chr8:89982789

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA332807

rs_587780773

11 SubmittersRCV000123202 RCV000221417 RCV000484131 RCV001264517 RCV003467093

NM_002485.5(NBN):c.38-10T>A

SNV
Germline

Chr8:89982865

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Microcephaly, normal intelligence and immunodeficiency
Hereditary breast ovarian cancer syndrome
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA292412

rs_556807466

10 SubmittersRCV000127085 RCV000733762 RCV000200594 RCV002225409 RCV005235033

NM_002485.5(NBN):c.1124+6G>T

SNV
Germline

Chr8:89958719

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA292413

rs_375862750

12 SubmittersRCV000127086 RCV000199990 RCV000581770 RCV001354937 RCV000587851

NM_002485.5(NBN):c.1914+10G>A

SNV
Germline

Chr8:89947814

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA205304

rs_577706448

13 SubmittersRCV000232925 RCV000679456 RCV001357262 RCV000192466 RCV000581136

NM_002485.5(NBN):c.481-18A>G

SNV
Germline

Chr8:89978341

Conflicting classifications of pathogenicity

not specified
Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA292414

rs_587781092

3 SubmittersRCV000127092 RCV002055696 RCV004017414

NM_002485.5(NBN):c.1125-3C>T

SNV
Germline

Chr8:89955558

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA163760

rs_587781326

5 SubmittersRCV000129069 RCV000361912 RCV001719900

NM_002485.5(NBN):c.172-3C>T

SNV
Germline

Chr8:89981526

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA164959

rs_587781620

5 SubmittersRCV000129710 RCV000330677 RCV000832940

NM_002485.5(NBN):c.1912T>C (p.Ser638Pro)

SNV
Germline

Chr8:89947826

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Microcephaly, normal intelligence and immunodeficiency
not specified
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA164965

rs_199657566

15 SubmittersRCV000129714 RCV000214531 RCV000229344 RCV001193652 RCV001354210

NM_002485.5(NBN):c.73G>A (p.Val25Ile)

SNV
Germline

Chr8:89982820

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA294139

rs_587781748

8 SubmittersRCV000129954 RCV000212726 RCV000232974 RCV000656923

NM_002485.5(NBN):c.1729G>T (p.Asp577Tyr)

SNV
Germline

Chr8:89953360

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA165950

rs_587781881

9 SubmittersRCV000199051 RCV000130210 RCV000499428 RCV003474761 RCV000589088

NM_002485.5(NBN):c.1124+5A>T

SNV
Germline

Chr8:89958720

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA166777

rs_587782108

5 SubmittersRCV000130624 RCV000608438 RCV000672993

NM_002485.5(NBN):c.1474C>T (p.Gln492Ter)

SNV
Germline

Chr8:89953615

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA166874

rs_587782130

5 SubmittersRCV000130673 RCV000480769 RCV000529643 RCV003467153

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

SNV
Germline

Chr8:89984563

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA167158

rs_202104448

7 SubmittersRCV000130810 RCV000422154 RCV001284195 RCV001800437

NM_002485.5(NBN):c.171+4T>C

SNV
Germline

Chr8:89982718

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA167713

rs_587782290

11 SubmittersRCV000131170 RCV000205676 RCV000590607 RCV005359252

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.278C>T (p.Ser93Leu)

SNV
Germline

Chr8:89981417

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA206703

rs_12721593

12 SubmittersRCV000131226 RCV000193311 RCV000168344 RCV000586867 RCV001354986

NM_002485.5(NBN):c.1591A>G (p.Ile531Val)

SNV
Germline

Chr8:89953498

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Malignant tumor of breast
not specified

Criteria Provided
Conflicting Classifications

CA167864

rs_587782330

7 SubmittersRCV000131247 RCV000542468 RCV001357760 RCV001778752

NM_002485.5(NBN):c.584+3A>G

SNV
Germline

Chr8:89978217

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA168167

rs_587782407

5 SubmittersRCV000131444 RCV000636786 RCV003225031

NM_002485.5(NBN):c.1354A>C (p.Thr452Pro)

SNV
Germline

Chr8:89955326

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer
NBN-related disorder

Criteria Provided
Conflicting Classifications

CA294382

rs_141137543

17 SubmittersRCV000131458 RCV000199946 RCV000212747 RCV000735122 RCV002225444 RCV003492622 RCV003905237

NM_002485.5(NBN):c.949A>G (p.Met317Val)

SNV
Germline

Chr8:89964455

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA168521

rs_587782502

5 SubmittersRCV000131642 RCV000477065 RCV000485286

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.2117C>G (p.Ser706Ter)

SNV
Germline

Chr8:89943320

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA299633

rs_730881857

10 SubmittersRCV000160795 RCV000212754 RCV000409031 RCV003467263 RCV003407597 RCV001535781

NM_002485.5(NBN):c.2029G>A (p.Asp677Asn)

SNV
Germline

Chr8:89946181

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA299630

rs_730881856

9 SubmittersRCV000160794 RCV000205938 RCV000235191 RCV001788054 RCV003317109

NM_002485.5(NBN):c.1701C>G (p.Phe567Leu)

SNV
Germline

Chr8:89953388

Conflicting classifications of pathogenicity

Condition: not provided
Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA299621

rs_730881853

4 SubmittersRCV000160791 RCV001800471 RCV000771478

NM_002485.5(NBN):c.1397+2T>A

SNV
Germline

Chr8:89955281

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA299614

rs_730881850

3 SubmittersRCV000160788 RCV000459098 RCV003467262

NM_002485.5(NBN):c.1343A>T (p.Gln448Leu)

SNV
Germline

Chr8:89955337

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA239214

rs_146403088

13 SubmittersRCV000160787 RCV000200818 RCV000656928 RCV003474834 RCV004745222 RCV001264572 RCV005359380

NM_002485.5(NBN):c.1255A>G (p.Asn419Asp)

SNV
Germline

Chr8:89955425

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA299611

rs_730881849

4 SubmittersRCV000160786 RCV000212744 RCV001304232

NM_002485.5(NBN):c.1089C>T (p.Tyr363=)

SNV
Germline

Chr8:89958760

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA248080

rs_121908974

12 SubmittersRCV000160770 RCV000212742 RCV000724700 RCV001079308

NM_002485.5(NBN):c.596C>G (p.Pro199Arg)

SNV
Germline

Chr8:89971279

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA299593

rs_730881844

13 SubmittersRCV000160780 RCV000726896 RCV000205060 RCV002229765 RCV003474833

NM_002485.5(NBN):c.468A>C (p.Lys156Asn)

SNV
Germline

Chr8:89980746

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
not specified

Criteria Provided
Conflicting Classifications

CA299636

rs_730881858

9 SubmittersRCV000160796 RCV000222254 RCV000456204 RCV000781643

NM_002485.5(NBN):c.289A>G (p.Ile97Val)

SNV
Germline

Chr8:89981406

Conflicting classifications of pathogenicity

Condition: not provided
Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA299627

rs_730881855

4 SubmittersRCV000160793 RCV000636730 RCV002433715

NM_002485.5(NBN):c.16C>T (p.Pro6Ser)

SNV
Germline

Chr8:89984546

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA299642

rs_730881859

8 SubmittersRCV000160798 RCV000197183 RCV000212724 RCV003467264 RCV004700496

NM_002485.5(NBN):c.-26G>A

SNV
Germline

Chr8:89984587

Conflicting classifications of pathogenicity

not specified
Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA299592

rs_201392451

5 SubmittersRCV000160779 RCV000352846 RCV003482133

NM_002485.5(NBN):c.286G>A (p.Gly96Ser)

SNV
Germline

Chr8:89981409

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA333815

rs_730882133

4 SubmittersRCV000161942 RCV002478492 RCV000574837

NM_002485.5(NBN):c.2234+2T>G

SNV
Germline

Chr8:89937024

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA190813

rs_142301194

6 SubmittersRCV000164379 RCV000636785 RCV000508046 RCV003474858

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.2070+2T>G

SNV
Germline

Chr8:89946138

Likely pathogenic

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA195879

rs_786203223

3 SubmittersRCV000166440 RCV001378392 RCV000759171

NM_002485.5(NBN):c.2056A>T (p.Lys686Ter)

SNV
Germline

Chr8:89946154

Pathogenic

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA198303

rs_786203920

2 SubmittersRCV000167435 RCV002516520

NM_002485.5(NBN):c.1989G>A (p.Val663=)

SNV
Germline

Chr8:89946221

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
NBN-related disorder
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA186793

rs_757753217

5 SubmittersRCV000162717 RCV000931948 RCV003937483 RCV001503777

NM_002485.5(NBN):c.1816G>A (p.Glu606Lys)

SNV
Germline

Chr8:89953273

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA195896

rs_774324419

5 SubmittersRCV000166446 RCV000586042 RCV000636773

NM_002485.5(NBN):c.1809C>A (p.Phe603Leu)

SNV
Germline

Chr8:89953280

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA191232

rs_192236678

11 SubmittersRCV000164543 RCV000424535 RCV000589243 RCV001357000 RCV001081367 RCV001030565

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.1465C>G (p.Leu489Val)

SNV
Germline

Chr8:89953624

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Malignant tumor of breast
Aplastic anemia

Criteria Provided
Conflicting Classifications

CA190135

rs_143948240

8 SubmittersRCV000164141 RCV000197233 RCV001354892 RCV003467286

NM_002485.5(NBN):c.1282A>G (p.Asn428Asp)

SNV
Germline

Chr8:89955398

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA192382

rs_786202302

9 SubmittersRCV000165044 RCV000476294 RCV000588529 RCV001788056

NM_002485.5(NBN):c.1248G>T (p.Met416Ile)

SNV
Germline

Chr8:89955432

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA191930

rs_756572268

5 SubmittersRCV000164855 RCV000534913 RCV001582649 RCV003468723

NM_002485.5(NBN):c.1204A>G (p.Thr402Ala)

SNV
Germline

Chr8:89955476

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA197574

rs_201373377

3 SubmittersRCV000167134 RCV000686355

NM_002485.5(NBN):c.786C>A (p.Phe262Leu)

SNV
Germline

Chr8:89970474

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA192297

rs_372159380

10 SubmittersRCV000165014 RCV000214639 RCV000473725 RCV001264536 RCV003462161

NM_002485.5(NBN):c.415A>G (p.Thr139Ala)

SNV
Germline

Chr8:89980799

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA193554

rs_543852763

7 SubmittersRCV000165497 RCV000168457 RCV002225484 RCV001706081

NM_002485.5(NBN):c.266G>C (p.Arg89Pro)

SNV
Germline

Chr8:89981429

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
Malignant tumor of breast
NBN-related disorder

Criteria Provided
Conflicting Classifications

CA189935

rs_747315554

10 SubmittersRCV000164059 RCV000473711 RCV000483231 RCV001354099 RCV004745239

NM_002485.5(NBN):c.235A>G (p.Asn79Asp)

SNV
Germline

Chr8:89981460

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA194070

rs_786202749

4 SubmittersRCV000165721 RCV000812346 RCV003153447

NM_002485.5(NBN):c.120G>T (p.Ser40=)

SNV
Germline

Chr8:89982773

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Microcephaly, normal intelligence and immunodeficiency
NBN-related disorder

Criteria Provided
Conflicting Classifications

CA189008

rs_774989816

9 SubmittersRCV000163710 RCV000733019 RCV000988090 RCV003975231

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.2165G>A (p.Trp722Ter)

SNV
Germline

Chr8:89943272

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA334459

rs_786204181

1 SubmittersRCV000168229

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_002485.5(NBN):c.1979G>C (p.Arg660Thr)

SNV
Germline

Chr8:89946231

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA335799

rs_201781110

10 SubmittersRCV000195616 RCV000486313 RCV000566063 RCV001731429 RCV003407708 RCV004567439

NM_002485.5(NBN):c.854G>C (p.Cys285Ser)

SNV
Germline

Chr8:89970406

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA336228

rs_863224715

3 SubmittersRCV000196198 RCV001017981

NM_002485.5(NBN):c.37+10G>C

SNV
Germline

Chr8:89984515

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA337883

rs_369408590

10 SubmittersRCV000198382 RCV000432416 RCV000580931 RCV001356816 RCV000859143

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.266G>A (p.Arg89Gln)

SNV
Germline

Chr8:89981429

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA348406

rs_747315554

8 SubmittersRCV000204158 RCV000215544 RCV002466468

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

SNV
Germline

Chr8:89943367

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10577363

rs_786201965

6 SubmittersRCV000217514 RCV000222103 RCV000543979 RCV004567540

NM_002485.5(NBN):c.1398-10T>A

SNV
Germline

Chr8:89953701

Conflicting classifications of pathogenicity

Condition: not provided
Microcephaly, normal intelligence and immunodeficiency
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA4802732

rs_539960851

7 SubmittersRCV000214666 RCV000463346 RCV001355059 RCV002225524 RCV004701297

NM_002485.5(NBN):c.666C>T (p.Phe222=)

SNV
Germline

Chr8:89971209

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
not specified

Criteria Provided
Conflicting Classifications

CA10577368

rs_876661098

6 SubmittersRCV000220946 RCV001183517 RCV001273693 RCV002509326

NM_002485.5(NBN):c.6G>A (p.Trp2Ter)

SNV
Germline

Chr8:89984556

Pathogenic/Likely pathogenic

Condition: not provided
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA10577371

rs_876661130

2 SubmittersRCV000220864 RCV001854740

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.2073C>T (p.Val691=)

SNV
Germline

Chr8:89943364

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
not specified

Criteria Provided
Conflicting Classifications

CA10578745

rs_876658178

3 SubmittersRCV000223586 RCV000636790 RCV003330586

NM_002485.5(NBN):c.2070+4G>A

SNV
Germline

Chr8:89946136

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
not specified
NBN-related disorder

Criteria Provided
Conflicting Classifications

CA10578746

rs_876660950

9 SubmittersRCV000216823 RCV000467512 RCV000842243 RCV002265696 RCV003929919

NM_002485.5(NBN):c.1796C>G (p.Thr599Arg)

SNV
Germline

Chr8:89953293

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA4802684

rs_775848374

5 SubmittersRCV000215909 RCV000534730 RCV003153514

NM_002485.5(NBN):c.1672A>G (p.Ile558Val)

SNV
Germline

Chr8:89953417

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA10578755

rs_876659451

4 SubmittersRCV000216080 RCV000465308

NM_002485.5(NBN):c.1659G>A (p.Met553Ile)

SNV
Germline

Chr8:89953430

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10578756

rs_876659960

7 SubmittersRCV000213628 RCV000530341 RCV001800566 RCV001658036

NM_002485.5(NBN):c.1622C>G (p.Ala541Gly)

SNV
Germline

Chr8:89953467

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10578757

rs_876658501

6 SubmittersRCV000216784 RCV000460642 RCV003468996

NM_002485.5(NBN):c.1454C>T (p.Thr485Met)

SNV
Germline

Chr8:89953635

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA4802717

rs_200891292

7 SubmittersRCV000218203 RCV000473153 RCV001284189 RCV001800560

NM_002485.5(NBN):c.1417C>A (p.Gln473Lys)

SNV
Germline

Chr8:89953672

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4802721

rs_755805461

7 SubmittersRCV000213681 RCV000463881 RCV000484796 RCV003475035 RCV005406965

NM_002485.5(NBN):c.1397+3C>G

SNV
Germline

Chr8:89955280

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA10578766

rs_876660481

5 SubmittersRCV000216247 RCV000636797

NM_002485.5(NBN):c.1315A>G (p.Ile439Val)

SNV
Germline

Chr8:89955365

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
not specified

Criteria Provided
Conflicting Classifications

CA4802766

rs_752837508

6 SubmittersRCV000214707 RCV000229100 RCV004586635

NM_002485.5(NBN):c.1198G>A (p.Ala400Thr)

SNV
Germline

Chr8:89955482

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4802781

rs_551602980

3 SubmittersRCV000217029 RCV000988085 RCV002478803

NM_002485.5(NBN):c.1160C>G (p.Ser387Cys)

SNV
Germline

Chr8:89955520

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4802785

rs_747632184

5 SubmittersRCV000215651 RCV000699656 RCV003477740

NM_002485.5(NBN):c.1152C>G (p.Ile384Met)

SNV
Germline

Chr8:89955528

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA10578769

rs_551802153

4 SubmittersRCV000218105 RCV001067296

NM_002485.5(NBN):c.995-2A>G

SNV
Germline

Chr8:89958856

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10578779

rs_876659521

7 SubmittersRCV000231563 RCV000223218 RCV000481197 RCV003475021 RCV003407753

NM_002485.5(NBN):c.977A>G (p.Gln326Arg)

SNV
Germline

Chr8:89964427

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA10578781

rs_876659586

2 SubmittersRCV000217834 RCV001853581

NM_002485.5(NBN):c.703-3T>C

SNV
Germline

Chr8:89970560

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA10578794

rs_876659566

4 SubmittersRCV000216120 RCV000615655 RCV000809078

NM_002485.5(NBN):c.394A>G (p.Ile132Val)

SNV
Germline

Chr8:89980820

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA4802987

rs_756946899

3 SubmittersRCV000223570 RCV000636732

NM_002485.5(NBN):c.109A>G (p.Asn37Asp)

SNV
Germline

Chr8:89982784

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA10578814

rs_876658411

3 SubmittersRCV000217641 RCV000469351

NM_002485.5(NBN):c.105T>G (p.Ile35Met)

SNV
Germline

Chr8:89982788

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4803056

rs_78870221

6 SubmittersRCV000216738 RCV000533679 RCV001570359 RCV003475034

NM_002485.5(NBN):c.38-5C>T

SNV
Germline

Chr8:89982860

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA4803067

rs_775244752

5 SubmittersRCV000221618 RCV000439470 RCV001496026

NM_002485.5(NBN):c.2015C>T (p.Pro672Leu)

SNV
Germline

Chr8:89946195

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4802630

rs_6413508

5 SubmittersRCV000234509 RCV000568348 RCV000788461

NM_002485.5(NBN):c.1738G>A (p.Val580Ile)

SNV
Germline

Chr8:89953351

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10582596

rs_878854506

3 SubmittersRCV000232061 RCV004020790

NM_002485.5(NBN):c.1023C>G (p.Ser341Arg)

SNV
Germline

Chr8:89958826

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4802815

rs_756023239

10 SubmittersRCV000230649 RCV000446226 RCV001770195 RCV001818596 RCV003469157

NM_002485.5(NBN):c.769G>A (p.Glu257Lys)

SNV
Germline

Chr8:89970491

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10582602

rs_878854516

2 SubmittersRCV000227599 RCV004020791

NM_002485.5(NBN):c.37+6G>C

SNV
Germline

Chr8:89984519

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4803097

rs_540868733

8 SubmittersRCV000231974 RCV004017531 RCV000590289

NM_002485.5(NBN):c.34G>A (p.Gly12Arg)

SNV
Germline

Chr8:89984528

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10582607

rs_878854511

6 SubmittersRCV000228075 RCV000762529 RCV000772147 RCV003475060

NM_002485.5(NBN):c.432A>G (p.Thr144=)

SNV
Germline

Chr8:89980782

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA10604979

rs_886043003

4 SubmittersRCV000394577 RCV001022303 RCV001436992

NM_002485.5(NBN):c.*987T>G

SNV
Germline

Chr8:89934595

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10628378

rs_78935210

2 SubmittersRCV000313620 RCV003422362

NM_002485.5(NBN):c.1383G>A (p.Pro461=)

SNV
Germline

Chr8:89955297

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10631749

rs_886063169

5 SubmittersRCV000357753 RCV000566911 RCV000431381

NM_002485.5(NBN):c.2185-1G>A

SNV
Germline

Chr8:89937076

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16041200

rs_1057517262

6 SubmittersRCV000409942 RCV003470351 RCV001014719

NM_002485.5(NBN):c.1846-1G>A

SNV
Germline

Chr8:89947893

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Gastric cancer
Aplastic anemia

Criteria Provided
Conflicting Classifications

CA16041206

rs_61753717

5 SubmittersRCV000411891 RCV000572719 RCV003168596 RCV004567888

NM_002485.5(NBN):c.1125-1G>A

SNV
Unknown

Chr8:89955556

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

No Assertion Criteria Provided

CA16041208

rs_1057517102

1 SubmittersRCV000412152

NM_002485.5(NBN):c.1124+1G>A

SNV
Germline

Chr8:89958724

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA16041209

rs_1057517209

2 SubmittersRCV000410092

NM_002485.5(NBN):c.702+1G>A

SNV
Germline

Chr8:89971172

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA16041210

rs_1057517104

4 SubmittersRCV000411476 RCV002365446 RCV003168594

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.171+1G>A

SNV
Germline

Chr8:89982721

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16041215

rs_931715719

8 SubmittersRCV000409002 RCV000759169 RCV001012839 RCV003475941

NM_002485.5(NBN):c.1125G>A (p.Trp375Ter)

SNV
Germline

Chr8:89955555

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA16044374

rs_1057519588

2 SubmittersRCV000417077

NM_002485.5(NBN):c.330T>G (p.Tyr110Ter)

SNV
Germline

Chr8:89980884

Pathogenic

Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Single Submitter

CA16044376

rs_1057519585

2 SubmittersRCV000417080 RCV003138000

NM_002485.5(NBN):c.24G>A (p.Ala8=)

SNV
Germline

Chr8:89984538

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA4803103

rs_779543740

5 SubmittersRCV000570467 RCV001704270 RCV001064416

NM_002485.5(NBN):c.1397+4T>C

SNV
Germline

Chr8:89955279

Conflicting classifications of pathogenicity

not specified
Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA4802756

rs_770699381

4 SubmittersRCV000418813 RCV001307656 RCV001011354

NM_002485.5(NBN):c.321-17C>G

SNV
Germline

Chr8:89980910

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA4803000

rs_763878712

4 SubmittersRCV000434657 RCV000679463 RCV001800667

NM_002485.5(NBN):c.37+3A>G

SNV
Germline

Chr8:89984522

Conflicting classifications of pathogenicity

not specified
Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
NBN-related disorder

Criteria Provided
Conflicting Classifications

CA4803098

rs_764356392

6 SubmittersRCV000432255 RCV000473199 RCV000582301 RCV003942385

NM_002485.5(NBN):c.1553C>G (p.Ser518Ter)

SNV
Germline

Chr8:89953536

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA16612360

rs_1060503480

1 SubmittersRCV000473949

NM_002485.5(NBN):c.37+6G>A

SNV
Germline

Chr8:89984519

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA4803096

rs_540868733

8 SubmittersRCV000457854 RCV001721502 RCV001821292 RCV005355866

NM_002485.5(NBN):c.2235-8C>T

SNV
Germline

Chr8:89935620

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
not specified

Criteria Provided
Conflicting Classifications

CA4802565

rs_369037495

3 SubmittersRCV000461235 RCV000605954

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.896+7A>G

SNV
Germline

Chr8:89970357

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16612494

rs_1060504926

2 SubmittersRCV000469470 RCV003478043

NM_002485.5(NBN):c.383T>G (p.Leu128Ter)

SNV
Germline

Chr8:89980831

Pathogenic

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16612505

rs_1060503463

2 SubmittersRCV000467395 RCV002365663

NM_002485.5(NBN):c.1274G>A (p.Arg425Lys)

SNV
Germline

Chr8:89955406

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16612541

rs_1060503478

4 SubmittersRCV000463281 RCV000565324 RCV002279233

NM_002485.5(NBN):c.1177T>C (p.Phe393Leu)

SNV
Germline

Chr8:89955503

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16612543

rs_941732827

7 SubmittersRCV000468237 RCV000570523 RCV001194317 RCV001800687

NM_002485.5(NBN):c.396A>G (p.Ile132Met)

SNV
Germline

Chr8:89980818

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16612674

rs_1060503462

4 SubmittersRCV000460586 RCV001021549 RCV001800688

NM_002485.5(NBN):c.2161G>T (p.Glu721Ter)

SNV
Germline

Chr8:89943276

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16618697

rs_1064795816

5 SubmittersRCV001383121 RCV000573618 RCV000486706 RCV003470579

NM_002485.5(NBN):c.1891C>G (p.Leu631Val)

SNV
Germline

Chr8:89947847

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA16618699

rs_1064793477

4 SubmittersRCV000486410 RCV001013475 RCV001309682

NM_002485.5(NBN):c.1842A>G (p.Ile614Met)

SNV
Germline

Chr8:89953247

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4802680

rs_770345026

7 SubmittersRCV000483770 RCV000567792 RCV000551607 RCV000985869

NM_002485.5(NBN):c.1594G>A (p.Val532Met)

SNV
Germline

Chr8:89953495

Conflicting classifications of pathogenicity

Condition: not provided
Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA4802701

rs_545435120

5 SubmittersRCV000484172 RCV000550537 RCV001012314

NM_002485.5(NBN):c.1398-17T>G

SNV
Germline

Chr8:89953708

Conflicting classifications of pathogenicity

Condition: not provided
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA4802735

rs_561077201

2 SubmittersRCV000480010 RCV002063747

NM_002485.5(NBN):c.702+1G>T

SNV
Germline

Chr8:89971172

Likely pathogenic

Condition: not provided
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA16618704

rs_1057517104

2 SubmittersRCV000481637 RCV001203346

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

SNV
Germline

Chr8:89978325

Pathogenic/Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16618708

rs_751567476

3 SubmittersRCV002525921 RCV000483114 RCV001184207

NM_002485.5(NBN):c.2T>C (p.Met1Thr)

SNV
Germline

Chr8:89984560

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA4803109

rs_746422391

4 SubmittersRCV000484157 RCV001184071 RCV000695139

NM_002485.5(NBN):c.2234+9T>G

SNV
Germline

Chr8:89937017

Conflicting classifications of pathogenicity

not specified
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA583377701

rs_1446505128

2 SubmittersRCV000506398 RCV000926687

NM_002485.5(NBN):c.702+9G>A

SNV
Germline

Chr8:89971164

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4802910

rs_748373099

8 SubmittersRCV000506857 RCV000679467 RCV001085475 RCV000581237 RCV001355731

NM_002485.5(NBN):c.207A>G (p.Lys69=)

SNV
Germline

Chr8:89981488

Conflicting classifications of pathogenicity

not specified
Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA4803020

rs_754352569

5 SubmittersRCV000507040 RCV000808156 RCV004023420

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.2083G>T (p.Gly695Ter)

SNV
Germline

Chr8:89943354

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371675852

rs_1554555835

1 SubmittersRCV000556515

NM_002485.5(NBN):c.1915-5T>G

SNV
Germline

Chr8:89946300

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
not specified
Aplastic anemia

Criteria Provided
Conflicting Classifications

CA658657785

rs_1554556608

3 SubmittersRCV000547745 RCV001800748 RCV003470736

NM_002485.5(NBN):c.1382C>T (p.Pro461Leu)

SNV
Germline

Chr8:89955298

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4802760

rs_367760321

11 SubmittersRCV000539528 RCV000567288 RCV001591216 RCV001821527 RCV003419937 RCV003476251

NM_002485.5(NBN):c.1255A>C (p.Asn419His)

SNV
Germline

Chr8:89955425

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA4802771

rs_730881849

3 SubmittersRCV000559800 RCV001010572

NM_002485.5(NBN):c.995-1G>C

SNV
Germline

Chr8:89958855

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371656826

rs_1554560523

1 SubmittersRCV000554271

NM_002485.5(NBN):c.1900G>A (p.Ala634Thr)

SNV
Germline

Chr8:89947838

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA371677210

rs_1554556892

2 SubmittersRCV000534847 RCV004943964

NM_002485.5(NBN):c.1558A>G (p.Asn520Asp)

SNV
Germline

Chr8:89953531

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA181257926

rs_944499155

3 SubmittersRCV000536553 RCV000573249

NM_002485.5(NBN):c.1170A>G (p.Glu390=)

SNV
Germline

Chr8:89955510

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA462115050

rs_1554559326

3 SubmittersRCV000541197 RCV000582045 RCV001417903

NM_002485.5(NBN):c.994+5T>C

SNV
Germline

Chr8:89964405

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA4802840

rs_778254433

3 SubmittersRCV000546426 RCV000574546

NM_002485.5(NBN):c.935T>A (p.Leu312Ter)

SNV
Germline

Chr8:89964469

Pathogenic/Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA371657029

rs_371480039

3 SubmittersRCV000544042

NM_002485.5(NBN):c.45A>C (p.Pro15=)

SNV
Germline

Chr8:89982848

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA461831586

rs_577332041

2 SubmittersRCV001438018 RCV004023856

NM_002485.5(NBN):c.994+1G>T

SNV
Germline

Chr8:89964409

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA371656834

rs_1554562083

5 SubmittersRCV000553121 RCV000755042 RCV003328595 RCV003459221

NM_002485.5(NBN):c.804G>T (p.Thr268=)

SNV
Germline

Chr8:89970456

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA461830826

rs_141443872

4 SubmittersRCV000544774 RCV001328442 RCV002413489

NM_002485.5(NBN):c.64G>T (p.Val22Phe)

SNV
Germline

Chr8:89982829

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA371663582

rs_369910645

2 SubmittersRCV000540870 RCV004943965

NM_002485.5(NBN):c.702+1G>C

SNV
Germline

Chr8:89971172

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA371658914

rs_1057517104

3 SubmittersRCV000542087 RCV002367818

NM_002485.5(NBN):c.2238C>A (p.Tyr746Ter)

SNV
Germline

Chr8:89935609

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4802562

rs_751570713

6 SubmittersRCV000564630 RCV000578737 RCV000698449 RCV004569120

NM_002485.5(NBN):c.2041C>T (p.Gln681Ter)

SNV
Germline

Chr8:89946169

Pathogenic

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA371676380

rs_1554556485

2 SubmittersRCV000567898 RCV001858377

NM_002485.5(NBN):c.1699T>C (p.Phe567Leu)

SNV
Germline

Chr8:89953390

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA371655291

rs_1554558312

3 SubmittersRCV000563554 RCV000796112

NM_002485.5(NBN):c.2140C>G (p.Arg714Gly)

SNV
Germline

Chr8:89943297

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4802601

rs_730881864

6 SubmittersRCV000575176 RCV000636782 RCV001584370

NM_002485.5(NBN):c.2128G>C (p.Ala710Pro)

SNV
Germline

Chr8:89943309

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA371675559

rs_1554555808

3 SubmittersRCV000568915 RCV000704836

NM_002485.5(NBN):c.1410A>G (p.Glu470=)

SNV
Germline

Chr8:89953679

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA462114864

rs_1554558592

4 SubmittersRCV000572616 RCV001800780 RCV001764653

NM_002485.5(NBN):c.1399G>T (p.Glu467Ter)

SNV
Germline

Chr8:89953690

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Malignant tumor of breast
Aplastic anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA371655931

rs_1554558613

5 SubmittersRCV000571949 RCV000801906 RCV001356206 RCV004569156

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.1171C>T (p.Gln391Ter)

SNV
Germline

Chr8:89955509

Pathogenic

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA371656435

rs_1554559323

4 SubmittersRCV000569344 RCV000694464 RCV001783067

NM_002485.5(NBN):c.1268A>G (p.Lys423Arg)

SNV
Germline

Chr8:89955412

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA371656233

rs_1444306607

3 SubmittersRCV000572328 RCV001041861

NM_002485.5(NBN):c.1124+1G>C

SNV
Germline

Chr8:89958724

Likely pathogenic

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA371656555

rs_1057517209

2 SubmittersRCV000569288 RCV001853723

NM_002485.5(NBN):c.1232C>G (p.Ser411Cys)

SNV
Germline

Chr8:89955448

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4802777

rs_551032019

4 SubmittersRCV000574288 RCV000694630 RCV000833202

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

SNV
Germline

Chr8:89943252

Likely pathogenic

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA181273259

rs_756363734

2 SubmittersRCV000569113 RCV000822720

NM_002485.5(NBN):c.1993A>G (p.Lys665Glu)

SNV
Germline

Chr8:89946217

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA371676482

rs_1554556544

3 SubmittersRCV000570062 RCV000684896

NM_002485.5(NBN):c.193G>A (p.Val65Ile)

SNV
Germline

Chr8:89981502

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
not specified

Criteria Provided
Conflicting Classifications

CA4803022

rs_778998026

4 SubmittersRCV000565097 RCV001039847 RCV003479166

NM_002485.5(NBN):c.315A>G (p.Lys105=)

SNV
Germline

Chr8:89981380

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA461831423

rs_13312858

3 SubmittersRCV000567799 RCV000707282

NM_002485.5(NBN):c.27C>T (p.Gly9=)

SNV
Germline

Chr8:89984535

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA461831602

rs_1554569662

4 SubmittersRCV000562307 RCV000611690 RCV000704342

NM_002485.5(NBN):c.1657A>G (p.Met553Val)

SNV
Germline

Chr8:89953432

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4802693

rs_746347634

6 SubmittersRCV000573104 RCV000636736 RCV000985868

NM_002485.5(NBN):c.36A>C (p.Gly12=)

SNV
Germline

Chr8:89984526

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA461831594

rs_1554569658

3 SubmittersRCV000566109 RCV001235497

NM_002485.5(NBN):c.1395A>G (p.Lys465=)

SNV
Germline

Chr8:89955285

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA462114815

rs_1213870507

2 SubmittersRCV000563286 RCV001449253

NM_002485.5(NBN):c.1870C>T (p.Arg624Cys)

SNV
Germline

Chr8:89947868

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA181275404

rs_962092255

6 SubmittersRCV000565273 RCV000687082 RCV003465269

NM_002485.5(NBN):c.1511A>G (p.Lys504Arg)

SNV
Germline

Chr8:89953578

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA4802708

rs_757754183

4 SubmittersRCV000566537 RCV000815889

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.1312A>G (p.Ser438Gly)

SNV
Germline

Chr8:89955368

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA371656141

rs_1456827107

3 SubmittersRCV000573699 RCV001063253

NM_002485.5(NBN):c.1147G>C (p.Glu383Gln)

SNV
Germline

Chr8:89955533

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA371656492

rs_772909239

3 SubmittersRCV000573508 RCV001341050

NM_002485.5(NBN):c.1125-4A>G

SNV
Germline

Chr8:89955559

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA658657802

rs_1554559375

3 SubmittersRCV000562845 RCV001400116

NM_002485.5(NBN):c.1124G>A (p.Trp375Ter)

SNV
Germline

Chr8:89958725

Pathogenic

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA371656558

rs_1394437421

2 SubmittersRCV000564232 RCV001858316

NM_002485.5(NBN):c.584+5A>G

SNV
Germline

Chr8:89978215

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA583375382

rs_1309889719

3 SubmittersRCV000565579 RCV000636761

NM_002485.5(NBN):c.480A>G (p.Lys160=)

SNV
Germline

Chr8:89980734

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA461831330

rs_1554567842

3 SubmittersRCV000567562 RCV000636809

NM_002485.5(NBN):c.320+1G>A

SNV
Germline

Chr8:89981374

Likely pathogenic

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371662236

rs_1364533250

2 SubmittersRCV000564864 RCV001276022

NM_002485.5(NBN):c.1915-8C>T

SNV
Germline

Chr8:89946303

Conflicting classifications of pathogenicity

Condition: not provided
Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA4802640

rs_368132097

4 SubmittersRCV000579007 RCV000636792 RCV002257847

NM_002485.5(NBN):c.2070+1G>A

SNV
Germline

Chr8:89946139

Likely pathogenic

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA371676311

rs_1554556454

4 SubmittersRCV000580887 RCV000671660

NM_002485.5(NBN):c.585-13A>G

SNV
Germline

Chr8:89971303

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA181276865

rs_980972703

2 SubmittersRCV002060553 RCV005252971

NM_002485.5(NBN):c.171+3A>G

SNV
Germline

Chr8:89982719

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA658683518

rs_1487002693

5 SubmittersRCV000580790 RCV001229330 RCV003459435

NM_002485.5(NBN):c.2235A>G (p.Arg745=)

SNV
Germline

Chr8:89935612

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA4802563

rs_754865465

2 SubmittersRCV000581635 RCV001853930

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_002485.5(NBN):c.565C>T (p.Gln189Ter)

SNV
Germline

Chr8:89978239

Pathogenic/Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA371660147

rs_1198614767

2 SubmittersRCV001853931 RCV003465314

NM_002485.5(NBN):c.-10A>T

SNV
Germline

Chr8:89984571

Conflicting classifications of pathogenicity

Condition: not provided
Microcephaly, normal intelligence and immunodeficiency
NBN-related disorder

Criteria Provided
Conflicting Classifications

CA4803113

rs_759094270

6 SubmittersRCV000586130 RCV001800804 RCV003420019

NM_002485.5(NBN):c.37+8C>T

SNV
Germline

Chr8:89984517

Conflicting classifications of pathogenicity

not specified
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA461831591

rs_1554569655

3 SubmittersRCV000615842 RCV000636710

NM_002485.5(NBN):c.871C>T (p.Gln291Ter)

SNV
Germline

Chr8:89970389

Pathogenic/Likely pathogenic

Premature ovarian insufficiency
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA371658288

rs_1554563822

3 SubmittersRCV000656225 RCV001387363 RCV004721470

NM_002485.5(NBN):c.832T>G (p.Ser278Ala)

SNV
Germline

Chr8:89970428

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA371658496

rs_1225178489

7 SubmittersRCV000589829 RCV000772494 RCV000701071 RCV001355653 RCV003492114

NM_002485.5(NBN):c.175C>T (p.Gln59Ter)

SNV
Germline

Chr8:89981520

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Aplastic anemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA371662638

rs_1554568427

6 SubmittersRCV000586448 RCV000688264 RCV001013002 RCV003471944 RCV003133388

NM_002485.5(NBN):c.584+6T>C

SNV
Germline

Chr8:89978214

Conflicting classifications of pathogenicity

not specified
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA658797119

rs_1554566602

4 SubmittersRCV000612983 RCV000698403 RCV001284317

NM_002485.5(NBN):c.2188C>T (p.Gln730Ter)

SNV
Germline

Chr8:89937072

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371674836

rs_1554554267

1 SubmittersRCV000636698

NM_002485.5(NBN):c.2071-2A>C

SNV
Germline

Chr8:89943368

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA4802608

rs_775397477

1 SubmittersRCV000636778

NM_002485.5(NBN):c.1715C>T (p.Pro572Leu)

SNV
Germline

Chr8:89953374

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA371655253

rs_1554558303

6 SubmittersRCV000636718 RCV001525100 RCV004568399 RCV002464275

NM_002485.5(NBN):c.1750G>T (p.Glu584Ter)

SNV
Germline

Chr8:89953339

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371655176

rs_1554558270

1 SubmittersRCV000636737

NM_002485.5(NBN):c.1483C>T (p.Pro495Ser)

SNV
Germline

Chr8:89953606

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA371655760

rs_747027298

2 SubmittersRCV000636740 RCV004025480

NM_002485.5(NBN):c.1124+2T>G

SNV
Germline

Chr8:89958723

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371656551

rs_1554560352

1 SubmittersRCV000636717

NM_002485.5(NBN):c.818C>T (p.Thr273Ile)

SNV
Germline

Chr8:89970442

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA371658541

rs_1554563912

4 SubmittersRCV000636779 RCV001525443

NM_002485.5(NBN):c.2238C>G (p.Tyr746Ter)

SNV
Unknown

Chr8:89935609

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

No Assertion Criteria Provided

CA371674717

rs_751570713

1 SubmittersRCV000670725

NM_002485.5(NBN):c.585-1G>A

SNV
Germline

Chr8:89971291

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA371659347

rs_1394578008

3 SubmittersRCV000666840 RCV001592845

NM_002485.5(NBN):c.995-2A>C

SNV
Germline

Chr8:89958856

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA371656828

rs_876659521

3 SubmittersRCV000669315 RCV004026108

NM_002485.5(NBN):c.1622C>T (p.Ala541Val)

SNV
Germline

Chr8:89953467

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA181257881

rs_876658501

3 SubmittersRCV000687714 RCV001805803 RCV003465562

NM_002485.5(NBN):c.646C>A (p.Gln216Lys)

SNV
Germline

Chr8:89971229

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA181276755

rs_769416

3 SubmittersRCV000688542 RCV001025298

NM_002485.5(NBN):c.1670C>T (p.Ala557Val)

SNV
Germline

Chr8:89953419

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA371655353

rs_1286743873

2 SubmittersRCV000688543 RCV002397380

NM_002485.5(NBN):c.1406A>G (p.Asp469Gly)

SNV
Germline

Chr8:89953683

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA371655921

rs_780365310

5 SubmittersRCV000697437 RCV001176913

NM_002485.5(NBN):c.1280C>G (p.Pro427Arg)

SNV
Germline

Chr8:89955400

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA4802769

rs_778881191

3 SubmittersRCV000700776 RCV001805815

NM_002485.5(NBN):c.1153A>G (p.Lys385Glu)

SNV
Germline

Chr8:89955527

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Ovarian cancer
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA371656478

rs_1563532612

3 SubmittersRCV000704263 RCV003153818 RCV004649287

NM_002485.5(NBN):c.585-2A>G

SNV
Germline

Chr8:89971292

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA4802924

rs_772005832

5 SubmittersRCV000700477 RCV002352187 RCV004588139 RCV003465613

NM_002485.5(NBN):c.222T>G (p.Tyr74Ter)

SNV
Germline

Chr8:89981473

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371662537

rs_1563581193

1 SubmittersRCV000696443

NM_002485.5(NBN):c.36A>T (p.Gly12=)

SNV
Germline

Chr8:89984526

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA461831592

rs_1554569658

3 SubmittersRCV000707509 RCV002343576

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.958A>G (p.Lys320Glu)

SNV
Germline

Chr8:89964446

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
not specified

Criteria Provided
Conflicting Classifications

CA371656951

rs_1563548624

3 SubmittersRCV000773117 RCV001800872 RCV002249473

NM_002485.5(NBN):c.786C>G (p.Phe262Leu)

SNV
Germline

Chr8:89970474

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA371658650

rs_372159380

3 SubmittersRCV000775829 RCV001302594

NM_002485.5(NBN):c.692A>G (p.Asn231Ser)

SNV
Germline

Chr8:89971183

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA371658940

rs_1309274168

4 SubmittersRCV000773378 RCV000809097 RCV000999052

NM_002485.5(NBN):c.474C>T (p.Thr158=)

SNV
Germline

Chr8:89980740

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA461831333

rs_1563578527

2 SubmittersRCV000774889 RCV001474735

NM_002485.5(NBN):c.297T>C (p.Phe99=)

SNV
Germline

Chr8:89981398

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA461831436

rs_1563580668

4 SubmittersRCV000772238 RCV001413593 RCV002225725

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

SNV
Germline

Chr8:89970363

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA4802876

rs_778306619

1 SubmittersRCV001377438

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.1693C>T (p.Gln565Ter)

SNV
Germline

Chr8:89953396

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371655306

rs_1586053399

1 SubmittersRCV000792089

NM_002485.5(NBN):c.1448T>G (p.Ile483Arg)

SNV
Germline

Chr8:89953641

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA371655829

rs_876658347

2 SubmittersRCV000801918 RCV002388484

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.1253C>A (p.Ser418Ter)

SNV
Germline

Chr8:89955427

Pathogenic

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA371656261

rs_1554559212

2 SubmittersRCV000819368 RCV002415924

NM_002485.5(NBN):c.1244G>A (p.Ser415Asn)

SNV
Germline

Chr8:89955436

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA4802776

rs_764832388

3 SubmittersRCV000792228 RCV001010512

NM_002485.5(NBN):c.966C>G (p.Tyr322Ter)

SNV
Germline

Chr8:89964438

Pathogenic

Microcephaly, normal intelligence and immunodeficiency
Breast carcinoma

Criteria Provided
Single Submitter

CA371656921

rs_748453607

2 SubmittersRCV000804176 RCV001564018

NM_002485.5(NBN):c.897G>A (p.Arg299=)

SNV
Germline

Chr8:89964507

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4802852

rs_779798363

5 SubmittersRCV001018584 RCV000816520 RCV001564380

NM_002485.5(NBN):c.250C>T (p.Gln84Ter)

SNV
Germline

Chr8:89981445

Pathogenic

Microcephaly, normal intelligence and immunodeficiency
Gastric cancer
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA371662477

rs_1586108714

3 SubmittersRCV000804317 RCV003166237 RCV004028167

NM_002485.5(NBN):c.241G>T (p.Glu81Ter)

SNV
Germline

Chr8:89981454

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371662498

rs_1064795037

1 SubmittersRCV000794512

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

SNV
Germline

Chr8:89964509

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371657180

rs_864622090

1 SubmittersRCV000793764

NM_002485.5(NBN):c.896+2T>C

SNV
Germline

Chr8:89970362

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA371658121

rs_754659423

3 SubmittersRCV000815940 RCV002442734 RCV003467475

NM_002485.5(NBN):c.1845+2T>C

SNV
Germline

Chr8:89953242

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371654955

rs_1586052622

1 SubmittersRCV000800755

NM_002485.5(NBN):c.2071-8T>C

SNV
Germline

Chr8:89943374

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA856704671

rs_1178683426

3 SubmittersRCV000875631 RCV004997445

NM_002485.5(NBN):c.270T>A (p.Thr90=)

SNV
Germline

Chr8:89981425

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA461831455

rs_776469548

3 SubmittersRCV000925079 RCV003478581 RCV003169326

NM_002485.5(NBN):c.1845+10A>G

SNV
Germline

Chr8:89953234

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA181257532

rs_570914185

4 SubmittersRCV000927165 RCV001818889 RCV001401955

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

SNV
Germline

Chr8:89964512

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA915945784

rs_1586076321

2 SubmittersRCV000927067 RCV002445037

NM_002485.5(NBN):c.584+2T>C

SNV
Germline

Chr8:89978218

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA371660050

rs_1586101154

4 SubmittersRCV001004533 RCV001024591 RCV003467575

NM_002485.5(NBN):c.1248G>A (p.Met416Ile)

SNV
Germline

Chr8:89955432

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA371656272

rs_756572268

3 SubmittersRCV001010556 RCV002295316

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.800G>A (p.Gly267Glu)

SNV
Germline

Chr8:89970460

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA4802883

rs_747837246

3 SubmittersRCV001027059 RCV001066171

NM_002485.5(NBN):c.320G>A (p.Arg107Lys)

SNV
Germline

Chr8:89981375

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA371662246

rs_1345924774

3 SubmittersRCV001228207 RCV001019241

NM_002485.5(NBN):c.2234+1G>T

SNV
Germline

Chr8:89937025

Likely pathogenic

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA371674733

rs_1586024147

2 SubmittersRCV001014894 RCV001236246

NM_002485.5(NBN):c.2071-4A>T

SNV
Germline

Chr8:89943370

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA913187593

rs_746994234

5 SubmittersRCV001014289 RCV001800923

NM_002485.5(NBN):c.897-1G>A

SNV
Germline

Chr8:89964508

Likely pathogenic

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA371657176

rs_1586076299

2 SubmittersRCV001018577 RCV001873311

NM_002485.5(NBN):c.585-5T>A

SNV
Germline

Chr8:89971295

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA915945794

rs_1586088968

2 SubmittersRCV001024605 RCV003617889

NM_002485.5(NBN):c.2173C>T (p.Gln725Ter)

SNV
Germline

Chr8:89943264

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371675305

rs_1810030774

1 SubmittersRCV001071287

NM_002485.5(NBN):c.1645A>T (p.Lys549Ter)

SNV
Germline

Chr8:89953444

Pathogenic

Microcephaly, normal intelligence and immunodeficiency
Breast and/or ovarian cancer
Hereditary cancer-predisposing syndrome
Aplastic anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA371655412

rs_1810540992

4 SubmittersRCV001060946 RCV001270950 RCV002402432 RCV003473674

NM_002485.5(NBN):c.1496C>G (p.Ser499Ter)

SNV
Germline

Chr8:89953593

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA371655738

rs_772411713

3 SubmittersRCV001057404 RCV003467785 RCV004031809

NM_002485.5(NBN):c.1286A>C (p.Tyr429Ser)

SNV
Germline

Chr8:89955394

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA371656194

rs_370121348

2 SubmittersRCV001051883 RCV004639446

NM_002485.5(NBN):c.604G>T (p.Glu202Ter)

SNV
Germline

Chr8:89971271

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371659304

rs_1811506628

1 SubmittersRCV001067860

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.1846-1G>T

SNV
Germline

Chr8:89947893

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371677329

rs_61753717

1 SubmittersRCV001043646

NM_002485.5(NBN):c.2234+1G>A

SNV
Germline

Chr8:89937025

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371674734

rs_1586024147

1 SubmittersRCV001062133

NM_002485.5(NBN):c.1886A>G (p.Asp629Gly)

SNV
Germline

Chr8:89947852

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA371677238

rs_1586043675

2 SubmittersRCV001162815 RCV004639487

NM_002485.5(NBN):c.567G>A (p.Gln189=)

SNV
Germline

Chr8:89978237

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA461831211

rs_1203807404

3 SubmittersRCV001161378

NM_002485.5(NBN):c.38-1G>A

SNV
Germline

Chr8:89982856

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371663768

rs_1812140936

1 SubmittersRCV005236658

NM_002485.5(NBN):c.1652G>A (p.Arg551Lys)

SNV
Germline

Chr8:89953437

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA371655396

rs_1586053587

3 SubmittersRCV001191742 RCV001863040 RCV003469306

NM_002485.5(NBN):c.1551C>A (p.Asn517Lys)

SNV
Germline

Chr8:89953538

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA371655615

rs_876658744

3 SubmittersRCV001187829 RCV001323375

NM_002485.5(NBN):c.1220G>A (p.Cys407Tyr)

SNV
Germline

Chr8:89955460

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA371656334

rs_1473253247

4 SubmittersRCV001178736 RCV001341643

NM_002485.5(NBN):c.115C>T (p.Gln39Ter)

SNV
Germline

Chr8:89982778

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA371663153

rs_377730553

2 SubmittersRCV001186594 RCV001862938

NM_002485.5(NBN):c.584+1G>A

SNV
Germline

Chr8:89978219

Likely pathogenic

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA371660058

rs_1811862598

2 SubmittersRCV001185847 RCV001862922

NM_002485.5(NBN):c.2185-7T>G

SNV
Germline

Chr8:89937082

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA913187588

rs_1563497932

2 SubmittersRCV001428981

NM_002485.5(NBN):c.1846-13T>A

SNV
Germline

Chr8:89947905

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA913187605

rs_1810272926

2 SubmittersRCV001186082 RCV003770074

NM_002485.5(NBN):c.1802A>G (p.Asp601Gly)

SNV
Germline

Chr8:89953287

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA4802683

rs_553571469

2 SubmittersRCV001217851 RCV002411808

NM_002485.5(NBN):c.436G>T (p.Glu146Ter)

SNV
Germline

Chr8:89980778

Pathogenic

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA371661690

rs_1812023357

2 SubmittersRCV002327522 RCV001220913

NM_002485.5(NBN):c.1845T>C (p.Ser615=)

SNV
Germline

Chr8:89953244

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA462114528

rs_1810519877

2 SubmittersRCV001206590 RCV002411760

NM_002485.5(NBN):c.1741C>T (p.Gln581Ter)

SNV
Germline

Chr8:89953348

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA371655198

rs_1337679118

5 SubmittersRCV001204081 RCV003473744 RCV002411748

NM_002485.5(NBN):c.359T>G (p.Leu120Ter)

SNV
Germline

Chr8:89980855

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA371662087

rs_1563579387

3 SubmittersRCV001206069 RCV003346362 RCV003469334

NM_002485.5(NBN):c.322A>G (p.Ile108Val)

SNV
Germline

Chr8:89980892

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA371662166

rs_1286492027

2 SubmittersRCV001213378 RCV002322033

NM_002485.5(NBN):c.995-1G>T

SNV
Germline

Chr8:89958855

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371656825

rs_1554560523

1 SubmittersRCV001214272

NM_002485.5(NBN):c.1849G>T (p.Glu617Ter)

SNV
Germline

Chr8:89947889

Pathogenic/Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA371677319

rs_766602873

2 SubmittersRCV001238488 RCV003478747

NM_002485.5(NBN):c.1516C>T (p.Gln506Ter)

SNV
Germline

Chr8:89953573

Pathogenic

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA371655690

rs_876658535

2 SubmittersRCV001227877 RCV003294092

NM_002485.5(NBN):c.20C>T (p.Ala7Val)

SNV
Germline

Chr8:89984542

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA181286152

rs_781057669

2 SubmittersRCV001236445 RCV002418811

NM_002485.5(NBN):c.1727T>C (p.Ile576Thr)

SNV
Germline

Chr8:89953362

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA371655228

rs_1255733657

2 SubmittersRCV001248747 RCV002402794

NM_002485.5(NBN):c.1393A>T (p.Lys465Ter)

SNV
Germline

Chr8:89955287

Pathogenic

Breast and/or ovarian cancer
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371655956

rs_1563530658

2 SubmittersRCV001270949 RCV003617920

NM_002485.5(NBN):c.5G>A (p.Trp2Ter)

SNV
Germline

Chr8:89984557

Pathogenic

Breast and/or ovarian cancer
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371664218

rs_1812244679

2 SubmittersRCV001270990 RCV002537743

NM_002485.5(NBN):c.189C>T (p.Ile63=)

SNV
Germline

Chr8:89981506

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA461831500

rs_1554568383

4 SubmittersRCV001284191 RCV001524765 RCV001426679

NM_002485.5(NBN):c.584G>A (p.Ser195Asn)

SNV
Germline

Chr8:89978220

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA371660064

rs_1811862674

4 SubmittersRCV001310162 RCV001368080 RCV003478769

NM_002485.5(NBN):c.2184+2T>G

SNV
Germline

Chr8:89943251

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA181273234

rs_75823099

2 SubmittersRCV001379405 RCV002432064

NM_002485.5(NBN):c.2184+2T>A

SNV
Germline

Chr8:89943251

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371675238

rs_75823099

1 SubmittersRCV001379478

NM_002485.5(NBN):c.2071-2A>G

SNV
Germline

Chr8:89943368

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371675957

rs_775397477

1 SubmittersRCV001378341

NM_002485.5(NBN):c.1914+2T>G

SNV
Germline

Chr8:89947822

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371677175

rs_2129659522

1 SubmittersRCV001377502

NM_002485.5(NBN):c.995G>A (p.Gly332Glu)

SNV
Germline

Chr8:89958854

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371656824

rs_2129747182

1 SubmittersRCV001377833

NM_002485.5(NBN):c.702+2T>C

SNV
Germline

Chr8:89971171

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA371658912

rs_1811497703

2 SubmittersRCV001377651 RCV003473905

NM_002485.5(NBN):c.702+2T>A

SNV
Germline

Chr8:89971171

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371658913

rs_1811497703

1 SubmittersRCV001376929

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.2089G>T (p.Gly697Ter)

SNV
Germline

Chr8:89943348

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371675821

rs_1038132485

1 SubmittersRCV001387991

NM_002485.5(NBN):c.1993A>T (p.Lys665Ter)

SNV
Germline

Chr8:89946217

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371676481

rs_1554556544

1 SubmittersRCV001388858

NM_002485.5(NBN):c.1496C>A (p.Ser499Ter)

SNV
Germline

Chr8:89953593

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371655739

rs_772411713

1 SubmittersRCV001387053

NM_002485.5(NBN):c.1417C>T (p.Gln473Ter)

SNV
Germline

Chr8:89953672

Pathogenic

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA371655896

rs_755805461

3 SubmittersRCV001385912 RCV004945110

NM_002485.5(NBN):c.1192C>T (p.Gln398Ter)

SNV
Germline

Chr8:89955488

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371656388

rs_2129721263

1 SubmittersRCV001390505

NM_002485.5(NBN):c.1190C>G (p.Ser397Ter)

SNV
Germline

Chr8:89955490

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371656391

rs_1554559308

1 SubmittersRCV001388920

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_002485.5(NBN):c.580G>T (p.Glu194Ter)

SNV
Germline

Chr8:89978224

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA371660081

rs_1554566610

4 SubmittersRCV001380565 RCV002357286 RCV003127859 RCV003469651

NM_002485.5(NBN):c.48C>G (p.Tyr16Ter)

SNV
Germline

Chr8:89982845

Pathogenic/Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency
NBN-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA371663676

rs_2129926091

2 SubmittersRCV001385181 RCV003399206

NM_002485.5(NBN):c.481-7A>G

SNV
Germline

Chr8:89978330

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2499219439

rs_2129890380

2 SubmittersRCV001395703 RCV004998871

NM_002485.5(NBN):c.2071-6C>A

SNV
Germline

Chr8:89943372

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA583378851

rs_768670249

2 SubmittersRCV001427677

NM_002485.5(NBN):c.790T>C (p.Leu264=)

SNV
Germline

Chr8:89970470

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA461830837

rs_2129829667

3 SubmittersRCV002420990 RCV001438933 RCV004783969

NM_002485.5(NBN):c.1332T>C (p.Asp444=)

SNV
Germline

Chr8:89955348

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA462114894

rs_1810653364

2 SubmittersRCV001454518 RCV004998907

NM_002485.5(NBN):c.1191A>G (p.Ser397=)

SNV
Germline

Chr8:89955489

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA462115028

rs_2129721280

3 SubmittersRCV001451978 RCV002342001 RCV003478839

NM_002485.5(NBN):c.585-5T>C

SNV
Germline

Chr8:89971295

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1116461963

rs_1586088968

3 SubmittersRCV001505889 RCV001525104

NM_002485.5(NBN):c.428G>A (p.Trp143Ter)

SNV
Germline

Chr8:89980786

Likely pathogenic

Condition: not provided
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371661731

rs_2129908974

2 SubmittersRCV001797182 RCV005614664

NM_002485.5(NBN):c.217A>T (p.Lys73Ter)

SNV
Germline

Chr8:89981478

Pathogenic/Likely pathogenic

Aplastic anemia
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA371662549

rs_2129915767

2 SubmittersRCV003470849 RCV002568061

NM_002485.5(NBN):c.1492C>A (p.Pro498Thr)

SNV
Germline

Chr8:89953597

Conflicting classifications of pathogenicity

Condition: not provided
Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA181258037

rs_915825113

4 SubmittersRCV001568147 RCV001832777 RCV004039356

NM_002485.5(NBN):c.1147G>T (p.Glu383Ter)

SNV
Germline

Chr8:89955533

Pathogenic/Likely pathogenic

Ovarian carcinoma
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA371656491

rs_772909239

3 SubmittersRCV001648486 RCV001873820 RCV003470874

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

SNV
Germline

Chr8:89978328

Conflicting classifications of pathogenicity

Condition: not provided
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA2573053061

rs_2129890359

2 SubmittersRCV001772463 RCV002074009

NM_002485.5(NBN):c.839C>T (p.Thr280Ile)

SNV
Germline

Chr8:89970421

Conflicting classifications of pathogenicity

Condition: not provided
Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA371658469

rs_2129828243

3 SubmittersRCV001763149 RCV002540321 RCV002440854

NM_002485.5(NBN):c.2260A>C (p.Arg754=)

SNV
Germline

Chr8:89935587

Conflicting classifications of pathogenicity

Condition: not provided
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA461836136

rs_2130735641

2 SubmittersRCV001771302 RCV002540531

NM_002485.5(NBN):c.2070+1G>T

SNV
Germline

Chr8:89946139

Likely pathogenic

Condition: not provided
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA371676309

rs_1554556454

2 SubmittersRCV001753232 RCV003617939

NM_002485.5(NBN):c.2140C>A (p.Arg714=)

SNV
Germline

Chr8:89943297

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA461837508

rs_730881864

3 SubmittersRCV001819270 RCV004040971 RCV003507398

NM_002485.5(NBN):c.994+2T>C

SNV
Germline

Chr8:89964408

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA371656832

rs_1586075690

2 SubmittersRCV002026037 RCV002386888

NM_002485.5(NBN):c.1982C>G (p.Ser661Ter)

SNV
Germline

Chr8:89946228

Pathogenic

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA371676512

rs_1810183784

2 SubmittersRCV001897734 RCV004041330

NM_002485.5(NBN):c.298G>T (p.Gly100Ter)

SNV
Germline

Chr8:89981397

Pathogenic

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA371662340

rs_2129914287

2 SubmittersRCV001864972 RCV002440930

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.171+1G>T

SNV
Germline

Chr8:89982721

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371662859

rs_931715719

1 SubmittersRCV002034356

NM_002485.5(NBN):c.171+1G>C

SNV
Germline

Chr8:89982721

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371662860

rs_931715719

1 SubmittersRCV002034449

NM_002485.5(NBN):c.1583T>G (p.Leu528Ter)

SNV
Germline

Chr8:89953506

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371655542

rs_2129700612

1 SubmittersRCV001908318

NM_002485.5(NBN):c.994G>A (p.Gly332Arg)

SNV
Germline

Chr8:89964410

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA371656838

rs_1437392838

3 SubmittersRCV002019619 RCV003348737 RCV005238156

NM_002485.5(NBN):c.278C>A (p.Ser93Ter)

SNV
Germline

Chr8:89981417

Pathogenic/Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA371662420

rs_12721593

2 SubmittersRCV001884264 RCV003470998

NM_002485.5(NBN):c.172-2A>T

SNV
Germline

Chr8:89981525

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371662652

rs_2129916685

1 SubmittersRCV001961761

NM_002485.5(NBN):c.1889C>A (p.Ser630Ter)

SNV
Germline

Chr8:89947849

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA371677231

rs_1810267412

3 SubmittersRCV002406960 RCV001947519 RCV004571457

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

SNV
Germline

Chr8:89978325

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371660743

rs_751567476

1 SubmittersRCV001971340

NM_002485.5(NBN):c.966C>A (p.Tyr322Ter)

SNV
Germline

Chr8:89964438

Pathogenic

Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA371656922

rs_748453607

3 SubmittersRCV001994742 RCV003475215

NM_002485.5(NBN):c.1028C>G (p.Ser343Ter)

SNV
Germline

Chr8:89958821

Pathogenic

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA371656756

rs_1810856747

2 SubmittersRCV002002429 RCV002386816

NM_002485.5(NBN):c.1895G>A (p.Trp632Ter)

SNV
Germline

Chr8:89947843

Pathogenic

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA371677222

rs_2129659855

2 SubmittersRCV001999711 RCV002407175

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

SNV
Germline

Chr8:89981524

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371662649

rs_1391598284

1 SubmittersRCV002048065

NM_002485.5(NBN):c.1190C>A (p.Ser397Ter)

SNV
Germline

Chr8:89955490

Pathogenic/Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA371656392

rs_1554559308

2 SubmittersRCV001956253

NM_002485.5(NBN):c.2070+2T>A

SNV
Germline

Chr8:89946138

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371676308

rs_786203223

1 SubmittersRCV001996041

NM_002485.5(NBN):c.143T>G (p.Leu48Ter)

SNV
Germline

Chr8:89982750

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371662994

rs_2129924518

1 SubmittersRCV001959178

NM_002485.5(NBN):c.1398-2A>G

SNV
Germline

Chr8:89953693

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371655940

rs_2129704501

1 SubmittersRCV002010366

NM_002485.5(NBN):c.742G>T (p.Glu248Ter)

SNV
Germline

Chr8:89970518

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371658809

rs_1811464271

1 SubmittersRCV001940815

NM_002485.5(NBN):c.1837A>T (p.Lys613Ter)

SNV
Germline

Chr8:89953252

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA371654977

rs_1554558199

3 SubmittersRCV001863317 RCV002406928 RCV004571430

NM_002485.5(NBN):c.2059A>T (p.Lys687Ter)

SNV
Germline

Chr8:89946151

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371676338

rs_2130763590

1 SubmittersRCV001996808

NM_002485.5(NBN):c.1125-11T>G

SNV
Germline

Chr8:89955566

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA583843910

rs_1373365760

2 SubmittersRCV002202436 RCV003234167

NM_002485.5(NBN):c.995-4A>G

SNV
Germline

Chr8:89958858

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2573143360

rs_2129747280

2 SubmittersRCV002113593 RCV004999654

NM_002485.5(NBN):c.2185-12T>G

SNV
Germline

Chr8:89937087

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA181268811

rs_373516568

2 SubmittersRCV002099636 RCV002258359

NM_002485.5(NBN):c.1891C>T (p.Leu631=)

SNV
Germline

Chr8:89947847

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA461839139

rs_1064793477

2 SubmittersRCV002117124 RCV002409504

NM_002485.5(NBN):c.1125-12C>G

SNV
Germline

Chr8:89955567

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA1116457414

rs_1810676263

2 SubmittersRCV002257309 RCV003774785

NM_002485.5(NBN):c.38-12A>G

SNV
Germline

Chr8:89982867

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA2573143429

rs_773524364

2 SubmittersRCV002257310 RCV003101427

NM_002485.5(NBN):c.769G>T (p.Glu257Ter)

SNV
Germline

Chr8:89970491

Pathogenic/Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA371658710

rs_878854516

2 SubmittersRCV002306733 RCV003308128

NM_002485.5(NBN):c.2047A>T (p.Lys683Ter)

SNV
Unknown

Chr8:89946163

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371676367

rs_2488201562

1 SubmittersRCV002309821

NM_002485.5(NBN):c.307G>T (p.Gly103Ter)

SNV
Unknown

Chr8:89981388

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371662303

rs_2129914127

1 SubmittersRCV002307901

NM_002485.5(NBN):c.1307T>A (p.Leu436Ter)

SNV
Unknown

Chr8:89955373

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371656152

rs_2488243337

1 SubmittersRCV002308118

NM_002485.5(NBN):c.313A>T (p.Lys105Ter)

SNV
Unknown

Chr8:89981382

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371662278

rs_2488359906

1 SubmittersRCV002310521

NM_002485.5(NBN):c.1640C>A (p.Ser547Ter)

SNV
Unknown

Chr8:89953449

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371655424

rs_1418547527

1 SubmittersRCV002308431

NM_002485.5(NBN):c.480+2T>G

SNV
Germline

Chr8:89980732

Likely pathogenic

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA371661414

rs_2488355261

2 SubmittersRCV002337877 RCV003096473

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_002485.5(NBN):c.1036G>T (p.Val346Leu)

SNV
Germline

Chr8:89958813

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Conflicting Classifications

CA371656741

rs_200297914

2 SubmittersRCV002394401 RCV005097521

NM_002485.5(NBN):c.2152G>T (p.Glu718Ter)

SNV
Germline

Chr8:89943285

Pathogenic

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA371675405

rs_1217913746

2 SubmittersRCV003161760 RCV003089653

NM_002485.5(NBN):c.1480C>T (p.Gln494Ter)

SNV
Germline

Chr8:89953609

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371655767

rs_587781557

1 SubmittersRCV002797046

NM_002485.5(NBN):c.1896G>A (p.Trp632Ter)

SNV
Germline

Chr8:89947842

Pathogenic

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA371677217

rs_1221760506

2 SubmittersRCV003167840 RCV002875551

NM_002485.5(NBN):c.1125-1G>C

SNV
Germline

Chr8:89955556

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371656546

rs_1057517102

1 SubmittersRCV002894487

NM_002485.5(NBN):c.1434C>A (p.Cys478Ter)

SNV
Germline

Chr8:89953655

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371655857

rs_1060503473

1 SubmittersRCV002894701

NM_002485.5(NBN):c.855T>A (p.Cys285Ter)

SNV
Germline

Chr8:89970405

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371658374

rs_2129827835

1 SubmittersRCV003029514

NM_002485.5(NBN):c.1583T>A (p.Leu528Ter)

SNV
Germline

Chr8:89953506

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371655544

rs_2129700612

1 SubmittersRCV003032194

NM_002485.5(NBN):c.1914+1G>T

SNV
Germline

Chr8:89947823

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371677178

rs_2488209092

1 SubmittersRCV003049650

NM_002485.5(NBN):c.1845+2T>G

SNV
Germline

Chr8:89953242

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371654957

rs_1586052622

1 SubmittersRCV003047186

NM_002485.5(NBN):c.2185-5G>A

SNV
Germline

Chr8:89937080

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA583377702

rs_1483820975

2 SubmittersRCV003618055 RCV003172487

NM_002485.5(NBN):c.1528G>T (p.Glu510Ter)

SNV
Germline

Chr8:89953561

Pathogenic

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA371655663

rs_2488232901

2 SubmittersRCV003172490 RCV003507483

NM_002485.5(NBN):c.1222A>T (p.Lys408Ter)

SNV
Germline

Chr8:89955458

Pathogenic/Likely pathogenic

Aplastic anemia
Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA371656328

rs_34120922

2 SubmittersRCV003470300 RCV003618081

NM_002485.5(NBN):c.1397+1G>A

SNV
Germline

Chr8:89955282

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4802757

rs_774256651

3 SubmittersRCV003476516 RCV003618082 RCV004364787

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

SNV
Germline

Chr8:89943367

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371675946

rs_786201965

1 SubmittersRCV003507550

NM_002485.5(NBN):c.321-1G>A

SNV
Germline

Chr8:89980894

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371662180

rs_2488357436

1 SubmittersRCV003508341

NM_002485.5(NBN):c.2071-2A>T

SNV
Germline

Chr8:89943368

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371675953

rs_775397477

1 SubmittersRCV003507081

NM_002485.5(NBN):c.1374C>G (p.Tyr458Ter)

SNV
Germline

Chr8:89955306

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371655999

rs_2129717018

1 SubmittersRCV003507753

NM_002485.5(NBN):c.700C>T (p.Gln234Ter)

SNV
Germline

Chr8:89971175

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371658922

rs_1811498255

1 SubmittersRCV003618236

NM_002485.5(NBN):c.1221C>A (p.Cys407Ter)

SNV
Germline

Chr8:89955459

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371656331

rs_2129720470

1 SubmittersRCV003618281

NM_002485.5(NBN):c.584+1G>T

SNV
Germline

Chr8:89978219

Likely pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371660055

rs_1811862598

1 SubmittersRCV003618364

NM_002485.5(NBN):c.649G>T (p.Glu217Ter)

SNV
Germline

Chr8:89971226

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371659124

rs_760275251

1 SubmittersRCV003618538

NM_002485.5(NBN):c.489T>A (p.Cys163Ter)

SNV
Germline

Chr8:89978315

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371660699

rs_2488344461

1 SubmittersRCV003618619

NM_002485.5(NBN):c.875C>G (p.Ser292Ter)

SNV
Germline

Chr8:89970385

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

CA371658264

rs_1811450946

1 SubmittersRCV003618717

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

NM_002485.5(NBN):c.274A>T (p.Lys92Ter)

SNV
Germline

Chr8:89981421

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005127719

NM_002485.5(NBN):c.2079T>A (p.Tyr693Ter)

SNV
Germline

Chr8:89943358

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005137700

NM_002485.5(NBN):c.517A>T (p.Lys173Ter)

SNV
Germline

Chr8:89978287

Pathogenic

Microcephaly, normal intelligence and immunodeficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005206014