Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_199242.3(UNC13D):c.1389+1G>A	SNV Germline	Chr17:75836338	Pathogenic	Familial hemophagocytic lymphohistiocytosis 3 Condition: not provided Autoinflammatory syndrome Colon adenocarcinoma	Criteria Provided Multiple Submitters No Conflicts	CA252030	rs_777759523	11 SubmittersRCV000002076 RCV000380656 RCV002262537 RCV005887201
NM_199242.3(UNC13D):c.766C>T (p.Arg256Ter)	SNV Germline	Chr17:75840317	Pathogenic/Likely pathogenic	Familial hemophagocytic lymphohistiocytosis 3 Condition: not provided Autoinflammatory syndrome UNC13D-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA252031	rs_121434352	7 SubmittersRCV000002077 RCV000760447 RCV002262538 RCV004745140
NM_199242.3(UNC13D):c.753+1G>T	SNV Germline	Chr17:75840506	Pathogenic	Familial hemophagocytic lymphohistiocytosis 3 Condition: not provided Familial hemophagocytic lymphohistiocytosis	Criteria Provided Multiple Submitters No Conflicts	CA252034	rs_201908137	8 SubmittersRCV000002078 RCV000288588 RCV006268065
NM_199242.3(UNC13D):c.1208T>C (p.Leu403Pro)	SNV Germline	Chr17:75836662	Pathogenic	Familial hemophagocytic lymphohistiocytosis 3 Familial hemophagocytic lymphohistiocytosis	Criteria Provided Single Submitter	CA252035	rs_121434353	2 SubmittersRCV000002079 RCV005430913
NM_199242.3(UNC13D):c.2570T>G (p.Phe857Cys)	SNV Germline	Chr17:75831153	Pathogenic	Familial hemophagocytic lymphohistiocytosis 3	No Assertion Criteria Provided	CA252038	rs_121434354	1 SubmittersRCV000002080
NM_199242.3(UNC13D):c.2588G>A (p.Gly863Asp)	SNV Germline	Chr17:75831135	Conflicting classifications of pathogenicity	Familial hemophagocytic lymphohistiocytosis 3 Autoinflammatory syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA8772459	rs_140184929	6 SubmittersRCV000490335 RCV002262801 RCV002509306 RCV005645043
NM_199242.3(UNC13D):c.1228A>C (p.Ile410Leu)	SNV Germline	Chr17:75836642	Conflicting classifications of pathogenicity	not specified Familial hemophagocytic lymphohistiocytosis 3 Condition: not provided Autoinflammatory syndrome	Criteria Provided Conflicting Classifications	CA8773072	rs_117221419	6 SubmittersRCV000249783 RCV000490433 RCV000879455 RCV002262802
NM_199242.3(UNC13D):c.271G>A (p.Val91Met)	SNV Germline	Chr17:75843064	Conflicting classifications of pathogenicity	Condition: not provided Familial hemophagocytic lymphohistiocytosis 3 UNC13D-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8773546	rs_374308904	4 SubmittersRCV000224157 RCV001219590 RCV003422127 RCV004020718
NM_199242.3(UNC13D):c.3078C>T (p.Pro1026=)	SNV Germline	Chr17:75828860	Conflicting classifications of pathogenicity	not specified Familial hemophagocytic lymphohistiocytosis 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA8772278	rs_372034111	4 SubmittersRCV000251612 RCV000298155 RCV003884439
NM_199242.3(UNC13D):c.2896C>T (p.Arg966Trp)	SNV Germline	Chr17:75830086	Conflicting classifications of pathogenicity	not specified Familial hemophagocytic lymphohistiocytosis 3 Condition: not provided Autoinflammatory syndrome	Criteria Provided Conflicting Classifications	CA8772349	rs_118049905	7 SubmittersRCV000242082 RCV000542743 RCV001753732 RCV002262916
NM_199242.3(UNC13D):c.175G>A (p.Ala59Thr)	SNV Germline	Chr17:75843245	Conflicting classifications of pathogenicity	not specified Familial hemophagocytic lymphohistiocytosis 3 Autoinflammatory syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA8773587	rs_9904366	8 SubmittersRCV000252059 RCV000547857 RCV002262912 RCV005639100
NM_199242.3(UNC13D):c.99G>A (p.Pro33=)	SNV Germline	Chr17:75844239	Conflicting classifications of pathogenicity	Familial hemophagocytic lymphohistiocytosis 3 Autoinflammatory syndrome UNC13D-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA8773676	rs_147886860	5 SubmittersRCV000640121 RCV002262919 RCV003891999 RCV004808659
NM_199242.3(UNC13D):c.24G>A (p.Pro8=)	SNV Germline	Chr17:75844314	Conflicting classifications of pathogenicity	Familial hemophagocytic lymphohistiocytosis 3 Autoinflammatory syndrome UNC13D-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA8773698	rs_143320460	5 SubmittersRCV000640120 RCV002262914 RCV003891998 RCV004808658
NM_199242.3(UNC13D):c.3141C>A (p.Pro1047=)	SNV Germline	Chr17:75828797	Conflicting classifications of pathogenicity	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Conflicting Classifications	CA10640577	rs_866899109	3 SubmittersRCV000640093
NM_199242.3(UNC13D):c.2002C>T (p.Arg668Cys)	SNV Germline	Chr17:75834707	Conflicting classifications of pathogenicity	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Conflicting Classifications	CA8772704	rs_376137910	3 SubmittersRCV000902750
NM_199242.3(UNC13D):c.972C>T (p.Asp324=)	SNV Germline	Chr17:75839922	Conflicting classifications of pathogenicity	Familial hemophagocytic lymphohistiocytosis 3 Autoinflammatory syndrome not specified	Criteria Provided Conflicting Classifications	CA8773178	rs_368990813	5 SubmittersRCV000768127 RCV002263030 RCV001820977
NM_199242.3(UNC13D):c.156G>T (p.Arg52=)	SNV Germline	Chr17:75843264	Conflicting classifications of pathogenicity	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Conflicting Classifications	CA10640594	rs_111728477	2 SubmittersRCV000262937
NM_199242.3(UNC13D):c.3033C>T (p.Ala1011=)	SNV Germline	Chr17:75828905	Conflicting classifications of pathogenicity	Familial hemophagocytic lymphohistiocytosis 3 Autoinflammatory syndrome	Criteria Provided Conflicting Classifications	CA8772299	rs_144730861	3 SubmittersRCV000640115 RCV002263023
NM_199242.3(UNC13D):c.2368-5C>T	SNV Germline	Chr17:75833050	Conflicting classifications of pathogenicity	Familial hemophagocytic lymphohistiocytosis 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA8772567	rs_180768962	3 SubmittersRCV000902495 RCV006441884
NM_199242.3(UNC13D):c.1389+12G>A	SNV Germline	Chr17:75836327	Conflicting classifications of pathogenicity	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Conflicting Classifications	CA8773007	rs_199536082	2 SubmittersRCV000279727
NM_199242.3(UNC13D):c.273G>A (p.Val91=)	SNV Germline	Chr17:75843062	Conflicting classifications of pathogenicity	Familial hemophagocytic lymphohistiocytosis 3 not specified	Criteria Provided Conflicting Classifications	CA8773545	rs_149494974	3 SubmittersRCV000904103 RCV001820978
NM_199242.2(UNC13D):c.-260C>T	SNV Germline	Chr17:75844597	Conflicting classifications of pathogenicity	Familial hemophagocytic lymphohistiocytosis 3 Autoinflammatory syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10646815	rs_113482537	3 SubmittersRCV000315493 RCV002263032 RCV004709747
NM_199242.3(UNC13D):c.2830+7G>A	SNV Germline	Chr17:75830355	Conflicting classifications of pathogenicity	Familial hemophagocytic lymphohistiocytosis 3 Condition: not provided UNC13D-related disorder	Criteria Provided Conflicting Classifications	CA8772378	rs_201023196	5 SubmittersRCV000972185 RCV001702001 RCV003940289
NM_199242.3(UNC13D):c.2341G>A (p.Val781Ile)	SNV Germline	Chr17:75834101	Conflicting classifications of pathogenicity	Condition: not provided Familial hemophagocytic lymphohistiocytosis 3 not specified Autoinflammatory syndrome	Criteria Provided Conflicting Classifications	CA8772587	rs_149871493	12 SubmittersRCV000734023 RCV001083279 RCV002265731 RCV002263025
NM_199242.3(UNC13D):c.2241C>T (p.Ser747=)	SNV Germline	Chr17:75834382	Conflicting classifications of pathogenicity	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Conflicting Classifications	CA8772633	rs_372453702	2 SubmittersRCV000640102
NM_199242.3(UNC13D):c.2180G>A (p.Arg727Gln)	SNV Germline	Chr17:75834443	Conflicting classifications of pathogenicity	Familial hemophagocytic lymphohistiocytosis 3 not specified Autoinflammatory syndrome Ovarian serous cystadenocarcinoma	Criteria Provided Conflicting Classifications	CA8772646	rs_747390615	4 SubmittersRCV000355372 RCV003401341 RCV002263026 RCV005894672
NM_199242.3(UNC13D):c.1204C>T (p.Leu402=)	SNV Germline	Chr17:75836666	Conflicting classifications of pathogenicity	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Conflicting Classifications	CA8773079	rs_568125844	2 SubmittersRCV000339412
NM_199242.3(UNC13D):c.2695C>T (p.Arg899Ter)	SNV Germline	Chr17:75830592	Pathogenic	Familial hemophagocytic lymphohistiocytosis 3 Condition: not provided Autoinflammatory syndrome	Criteria Provided Multiple Submitters No Conflicts	CA8772432	rs_766657895	8 SubmittersRCV000323586 RCV001702002 RCV002263024
NM_199242.3(UNC13D):c.858+12A>C	SNV Germline	Chr17:75840213	Conflicting classifications of pathogenicity	Familial hemophagocytic lymphohistiocytosis 3 not specified	Criteria Provided Conflicting Classifications	CA8773253	rs_191712530	3 SubmittersRCV000274690 RCV004701413
NM_199242.3(UNC13D):c.444G>A (p.Gly148=)	SNV Germline	Chr17:75842558	Conflicting classifications of pathogenicity	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Conflicting Classifications	CA8773482	rs_373551579	2 SubmittersRCV000640109
NM_199242.3(UNC13D):c.147C>T (p.Pro49=)	SNV Germline	Chr17:75843490	Conflicting classifications of pathogenicity	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Conflicting Classifications	CA8773622	rs_749672259	2 SubmittersRCV000318875
NM_199242.3(UNC13D):c.919C>T (p.Gln307Ter)	SNV Germline	Chr17:75840050	Pathogenic/Likely pathogenic	Condition: not provided Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Multiple Submitters No Conflicts	CA8773208	rs_747169857	3 SubmittersRCV000414378 RCV001861424
NM_199242.3(UNC13D):c.753+3G>A	SNV Germline	Chr17:75840504	Conflicting classifications of pathogenicity	not specified Condition: not provided Familial hemophagocytic lymphohistiocytosis 3 Autoinflammatory syndrome UNC13D-related disorder	Criteria Provided Conflicting Classifications	CA8773311	rs_116229331	10 SubmittersRCV000422858 RCV000544050 RCV001086175 RCV002261085 RCV003970151
NM_199242.3(UNC13D):c.2335G>A (p.Val779Met)	SNV Germline	Chr17:75834107	Conflicting classifications of pathogenicity	not specified Familial hemophagocytic lymphohistiocytosis 3 Condition: not provided Autoinflammatory syndrome UNC13D-related disorder Intellectual disability	Criteria Provided Conflicting Classifications	CA8772589	rs_113861754	11 SubmittersRCV000455177 RCV000548831 RCV001703174 RCV002263693 RCV003912793 RCV005625608
NM_199242.3(UNC13D):c.1299-1G>A	SNV Germline	Chr17:75836430	Likely pathogenic	Familial hemophagocytic lymphohistiocytosis 3	No Assertion Criteria Provided	CA401100012	rs_1555601863	1 SubmittersRCV000509013
NM_199242.3(UNC13D):c.2709+1G>A	SNV Germline	Chr17:75830577	Pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Single Submitter	CA401080505	rs_1555600214	2 SubmittersRCV000509027
NM_199242.3(UNC13D):c.1847A>G (p.Glu616Gly)	SNV Germline	Chr17:75835410	Pathogenic	Condition: not provided Familial hemophagocytic lymphohistiocytosis Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Multiple Submitters No Conflicts	CA401092049	rs_754621494	3 SubmittersRCV000514775 RCV001778988 RCV003497856
NM_199242.3(UNC13D):c.2542A>C (p.Ile848Leu)	SNV Germline	Chr17:75831254	Conflicting classifications of pathogenicity	Condition: not provided Familial hemophagocytic lymphohistiocytosis 3 not specified Autoinflammatory syndrome UNC13D-related disorder	Criteria Provided Conflicting Classifications	CA8772485	rs_144968313	11 SubmittersRCV000762002 RCV001081750 RCV001821540 RCV002263768 RCV004745455
NM_199242.3(UNC13D):c.2983G>C (p.Ala995Pro)	SNV Germline	Chr17:75828955	Conflicting classifications of pathogenicity	Condition: not provided Familial hemophagocytic lymphohistiocytosis 3 Autoinflammatory syndrome not specified UNC13D-related disorder	Criteria Provided Conflicting Classifications	CA8772316	rs_138760432	12 SubmittersRCV000762001 RCV001081751 RCV002263769 RCV001821541 RCV004745456
NM_199242.3(UNC13D):c.1727+1G>A	SNV Germline	Chr17:75835646	Pathogenic/Likely pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Multiple Submitters No Conflicts	CA8772849	rs_754882266	3 SubmittersRCV000640104
NM_199242.3(UNC13D):c.227C>T (p.Thr76Met)	SNV Germline	Chr17:75843193	Conflicting classifications of pathogenicity	Familial hemophagocytic lymphohistiocytosis 3 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA8773582	rs_78028658	4 SubmittersRCV000640097 RCV002222570 RCV001771866
NM_199242.3(UNC13D):c.118-308C>T	SNV Germline	Chr17:75843827	Pathogenic/Likely pathogenic	Familial hemophagocytic lymphohistiocytosis 3 Condition: not provided Familial hemophagocytic lymphohistiocytosis	Criteria Provided Multiple Submitters No Conflicts	CA294090507	rs_959968589	9 SubmittersRCV000640100 RCV001788308 RCV002265832
NM_199242.3(UNC13D):c.2828A>G (p.Asn943Ser)	SNV Germline	Chr17:75830364	Conflicting classifications of pathogenicity	Familial hemophagocytic lymphohistiocytosis 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA8772379	rs_147748627	2 SubmittersRCV000640110 RCV005621989
NM_199242.3(UNC13D):c.2553+5C>G	SNV Germline	Chr17:75831238	Conflicting classifications of pathogenicity	Familial hemophagocytic lymphohistiocytosis 3 Condition: not provided UNC13D-related disorder	Criteria Provided Conflicting Classifications	CA8772483	rs_201930023	8 SubmittersRCV000640122 RCV001573699 RCV003928084
NM_199242.3(UNC13D):c.1472T>A (p.Leu491Ter)	SNV Germline	Chr17:75836084	Pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Single Submitter	CA401097928	rs_1555601754	1 SubmittersRCV000640096
NM_199242.3(UNC13D):c.1240C>T (p.Arg414Cys)	SNV Germline	Chr17:75836630	Pathogenic/Likely pathogenic	Familial hemophagocytic lymphohistiocytosis 3 Condition: not provided Familial hemophagocytic lymphohistiocytosis	Criteria Provided Multiple Submitters No Conflicts	CA8773066	rs_750811263	4 SubmittersRCV000640099 RCV001815423 RCV002282277
NM_199242.3(UNC13D):c.2293G>T (p.Glu765Ter)	SNV Germline	Chr17:75834330	Pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Single Submitter	CA401087979	rs_763117746	1 SubmittersRCV000704492
NM_199242.3(UNC13D):c.1768C>T (p.Gln590Ter)	SNV Germline	Chr17:75835489	Pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Single Submitter	CA401092767	rs_1567818774	1 SubmittersRCV000695218
NM_199242.3(UNC13D):c.610A>G (p.Met204Val)	SNV Germline	Chr17:75840961	Conflicting classifications of pathogenicity	Familial hemophagocytic lymphohistiocytosis 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA8773398	rs_144722609	7 SubmittersRCV000696923 RCV001572457
NM_199242.3(UNC13D):c.3173T>C (p.Leu1058Pro)	SNV Germline	Chr17:75828065	Likely pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Single Submitter	CA401073788	rs_1278701043	1 SubmittersRCV000691140
NM_199242.3(UNC13D):c.2893G>A (p.Ala965Thr)	SNV Germline	Chr17:75830089	Conflicting classifications of pathogenicity	Familial hemophagocytic lymphohistiocytosis 3 Intellectual disability	Criteria Provided Conflicting Classifications	CA8772350	rs_144744401	4 SubmittersRCV000706895 RCV005626170
NM_199242.3(UNC13D):c.1820G>C (p.Arg607Pro)	SNV Germline	Chr17:75835437	Conflicting classifications of pathogenicity	Familial hemophagocytic lymphohistiocytosis 3 Condition: not provided Autoinflammatory syndrome Familial hemophagocytic lymphohistiocytosis UNC13D-related disorder	Criteria Provided Conflicting Classifications	CA8772792	rs_377293829	5 SubmittersRCV000779232 RCV001759472 RCV002263971 RCV002265885 RCV004745585
NM_199242.3(UNC13D):c.247C>T (p.Arg83Ter)	SNV Germline	Chr17:75843173	Pathogenic/Likely pathogenic	Familial hemophagocytic lymphohistiocytosis 3 Autoinflammatory syndrome Familial hemophagocytic lymphohistiocytosis	Criteria Provided Multiple Submitters No Conflicts	CA401116746	rs_1274685768	5 SubmittersRCV000778518 RCV002263969 RCV006459900
NM_199242.3(UNC13D):c.520C>T (p.Gln174Ter)	SNV Germline	Chr17:75842482	Pathogenic/Likely pathogenic	Familial hemophagocytic lymphohistiocytosis 3 Familial hemophagocytic lymphohistiocytosis	Criteria Provided Multiple Submitters No Conflicts	CA401113941	rs_1157287613	2 SubmittersRCV000822959 RCV002298791
NM_199242.3(UNC13D):c.2447+1G>A	SNV Germline	Chr17:75832965	Likely pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Single Submitter	CA401084457	rs_1165696705	1 SubmittersRCV000792676
NM_199242.3(UNC13D):c.859-1G>C	SNV Germline	Chr17:75840111	Likely pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Single Submitter	CA401108219	rs_1388957809	1 SubmittersRCV000806924
NM_199242.3(UNC13D):c.569+5G>A	SNV Germline	Chr17:75842428	Likely pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Multiple Submitters No Conflicts	CA8773437	rs_765034513	2 SubmittersRCV000801425
NM_199242.3(UNC13D):c.2499C>T (p.Ala833=)	SNV Germline	Chr17:75831297	Conflicting classifications of pathogenicity	Familial hemophagocytic lymphohistiocytosis 3 Autoinflammatory syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA8772493	rs_200014965	3 SubmittersRCV000974710 RCV002264122 RCV004710228
NM_199242.3(UNC13D):c.1232G>A (p.Arg411Gln)	SNV Germline	Chr17:75836638	Conflicting classifications of pathogenicity	Familial hemophagocytic lymphohistiocytosis 3 Autoinflammatory syndrome Hepatocellular carcinoma	Criteria Provided Conflicting Classifications	CA8773068	rs_200109035	3 SubmittersRCV000879454 RCV002264042 RCV005907296
NM_199242.3(UNC13D):c.811C>T (p.Pro271Ser)	SNV Germline	Chr17:75840272	Conflicting classifications of pathogenicity	Familial hemophagocytic lymphohistiocytosis 3 Autoinflammatory syndrome not specified UNC13D-related disorder	Criteria Provided Conflicting Classifications	CA8773269	rs_139564938	5 SubmittersRCV000892592 RCV002264053 RCV001818675 RCV003968148
NM_199242.3(UNC13D):c.114G>A (p.Pro38=)	SNV Germline	Chr17:75844224	Conflicting classifications of pathogenicity	Familial hemophagocytic lymphohistiocytosis 3 not specified Autoinflammatory syndrome UNC13D-related disorder	Criteria Provided Conflicting Classifications	CA8773670	rs_755103812	5 SubmittersRCV000894710 RCV001818699 RCV002264063 RCV003920825
NM_199242.3(UNC13D):c.261+8C>T	SNV Germline	Chr17:75843151	Conflicting classifications of pathogenicity	Familial hemophagocytic lymphohistiocytosis 3 Autoinflammatory syndrome	Criteria Provided Conflicting Classifications	CA8773574	rs_573508258	2 SubmittersRCV001520228 RCV002264059
NM_199242.3(UNC13D):c.2340C>T (p.Gly780=)	SNV Germline	Chr17:75834102	Conflicting classifications of pathogenicity	Familial hemophagocytic lymphohistiocytosis 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA8772588	rs_556654678	3 SubmittersRCV001459099 RCV004704304
NM_199242.3(UNC13D):c.118-9G>C	SNV Germline	Chr17:75843528	Conflicting classifications of pathogenicity	Familial hemophagocytic lymphohistiocytosis 3 Autoinflammatory syndrome	Criteria Provided Conflicting Classifications	CA8773631	rs_527842266	2 SubmittersRCV000895207 RCV002264064
NM_199242.3(UNC13D):c.1215C>T (p.Tyr405=)	SNV Germline	Chr17:75836655	Conflicting classifications of pathogenicity	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Conflicting Classifications	CA8773075	rs_143184345	2 SubmittersRCV000926579
NM_199242.3(UNC13D):c.629T>G (p.Val210Gly)	SNV Germline	Chr17:75840816	Conflicting classifications of pathogenicity	Familial hemophagocytic lymphohistiocytosis 3 Autoinflammatory syndrome	Criteria Provided Conflicting Classifications	CA8773371	rs_553365957	3 SubmittersRCV000918232 RCV002264091
NM_199242.3(UNC13D):c.1773G>T (p.Pro591=)	SNV Germline	Chr17:75835484	Conflicting classifications of pathogenicity	Familial hemophagocytic lymphohistiocytosis 3 Autoinflammatory syndrome	Criteria Provided Conflicting Classifications	CA8772813	rs_367988204	2 SubmittersRCV001495819 RCV002264099
NM_199242.3(UNC13D):c.1131C>G (p.Ser377Arg)	SNV Germline	Chr17:75836843	Conflicting classifications of pathogenicity	Condition: not provided Familial hemophagocytic lymphohistiocytosis 3 UNC13D-related disorder	Criteria Provided Conflicting Classifications	CA8773118	rs_142335129	3 SubmittersRCV000937697 RCV001088459 RCV003895700
NM_199242.3(UNC13D):c.1014C>T (p.His338=)	SNV Germline	Chr17:75839880	Conflicting classifications of pathogenicity	Familial hemophagocytic lymphohistiocytosis 3 Condition: not provided UNC13D-related disorder not specified	Criteria Provided Conflicting Classifications	CA8773167	rs_375097777	5 SubmittersRCV000935303 RCV003413738 RCV003913165 RCV005903190
NM_199242.3(UNC13D):c.1890G>A (p.Ala630=)	SNV Germline	Chr17:75835022	Conflicting classifications of pathogenicity	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Conflicting Classifications	CA8772752	rs_753021453	2 SubmittersRCV000983711
NM_199242.3(UNC13D):c.2710-2A>G	SNV Germline	Chr17:75830484	Pathogenic/Likely pathogenic	Condition: not provided Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Multiple Submitters No Conflicts	CA294084540	rs_910650073	2 SubmittersRCV000986191 RCV002549658
NM_199242.3(UNC13D):c.1596+1G>C	SNV Germline	Chr17:75835854	Pathogenic	Condition: not provided Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Multiple Submitters No Conflicts	CA294086876	rs_933702160	3 SubmittersRCV000986193 RCV001728095
NM_199242.3(UNC13D):c.1477G>A (p.Gly493Ser)	SNV Germline	Chr17:75836079	Conflicting classifications of pathogenicity	Familial hemophagocytic lymphohistiocytosis 3 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8772955	rs_759754878	3 SubmittersRCV001042266 RCV004792656 RCV006387104
NM_199242.3(UNC13D):c.1076G>A (p.Arg359His)	SNV Germline	Chr17:75836898	Conflicting classifications of pathogenicity	Familial hemophagocytic lymphohistiocytosis 3 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA8773127	rs_146611729	4 SubmittersRCV001051337 RCV002553737 RCV006279322
NM_199242.3(UNC13D):c.1000G>A (p.Val334Ile)	SNV Germline	Chr17:75839894	Conflicting classifications of pathogenicity	Familial hemophagocytic lymphohistiocytosis 3 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8773172	rs_373019036	2 SubmittersRCV001039252 RCV004678898
NM_199242.3(UNC13D):c.2955-1G>A	SNV Germline	Chr17:75828984	Likely pathogenic	Familial hemophagocytic lymphohistiocytosis 3 Familial hemophagocytic lymphohistiocytosis	Criteria Provided Multiple Submitters No Conflicts	CA294084276	rs_1041960684	2 SubmittersRCV001053702 RCV005438053
NM_199242.3(UNC13D):c.1215C>G (p.Tyr405Ter)	SNV Germline	Chr17:75836655	Pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Single Submitter	CA401101075	rs_143184345	1 SubmittersRCV001090162
NM_199242.3(UNC13D):c.3067C>T (p.Arg1023Cys)	SNV Germline	Chr17:75828871	Conflicting classifications of pathogenicity	Familial hemophagocytic lymphohistiocytosis 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA8772284	rs_140599939	3 SubmittersRCV001126670 RCV004590102
NM_199242.3(UNC13D):c.2496G>A (p.Ala832=)	SNV Germline	Chr17:75831300	Conflicting classifications of pathogenicity	Familial hemophagocytic lymphohistiocytosis 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA8772495	rs_763343306	3 SubmittersRCV001124102 RCV005865461
NM_199242.3(UNC13D):c.1758C>T (p.His586=)	SNV Germline	Chr17:75835499	Conflicting classifications of pathogenicity	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Conflicting Classifications	CA8772819	rs_759891490	2 SubmittersRCV001127180
NM_199242.3(UNC13D):c.147C>G (p.Pro49=)	SNV Germline	Chr17:75843490	Conflicting classifications of pathogenicity	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Conflicting Classifications	CA8773623	rs_749672259	2 SubmittersRCV001124307
NM_199242.3(UNC13D):c.2554-13A>G	SNV Germline	Chr17:75831182	Conflicting classifications of pathogenicity	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Conflicting Classifications	CA8772468	rs_533490795	2 SubmittersRCV001123033
NM_199242.3(UNC13D):c.2553+12G>A	SNV Germline	Chr17:75831231	Conflicting classifications of pathogenicity	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Conflicting Classifications	CA8772479	rs_560520169	2 SubmittersRCV001123034
NM_199242.3(UNC13D):c.1728-13C>T	SNV Germline	Chr17:75835542	Conflicting classifications of pathogenicity	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Conflicting Classifications	CA8772827	rs_745855631	2 SubmittersRCV001123109
NM_199242.3(UNC13D):c.1174-15C>G	SNV Germline	Chr17:75836711	Conflicting classifications of pathogenicity	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Conflicting Classifications	CA8773091	rs_374069629	2 SubmittersRCV001124195
NM_199242.3(UNC13D):c.683+12A>C	SNV Germline	Chr17:75840750	Conflicting classifications of pathogenicity	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Conflicting Classifications	CA1139665881	rs_2064942107	2 SubmittersRCV001127277
NM_199242.3(UNC13D):c.569+10C>T	SNV Germline	Chr17:75842423	Conflicting classifications of pathogenicity	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Conflicting Classifications	CA8773435	rs_368069154	2 SubmittersRCV001127278
NM_199242.3(UNC13D):c.2212C>T (p.Gln738Ter)	SNV Germline	Chr17:75834411	Pathogenic/Likely pathogenic	Familial hemophagocytic lymphohistiocytosis 3 See cases	Criteria Provided Multiple Submitters No Conflicts	CA8772642	rs_764507196	2 SubmittersRCV001215391 RCV002252331
NM_199242.3(UNC13D):c.551G>A (p.Trp184Ter)	SNV Germline	Chr17:75842451	Pathogenic	Familial hemophagocytic lymphohistiocytosis 3 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA8773444	rs_754292065	3 SubmittersRCV001210685 RCV002275318
NM_199242.3(UNC13D):c.2831-13G>A	SNV Germline	Chr17:75830164	Pathogenic/Likely pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Multiple Submitters No Conflicts	CA294084497	rs_1005334519	2 SubmittersRCV001218863
NM_199242.3(UNC13D):c.49C>T (p.Gln17Ter)	SNV Germline	Chr17:75844289	Pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Single Submitter	CA401120370	rs_2064970978	1 SubmittersRCV001248651
NM_199242.3(UNC13D):c.3151G>A (p.Gly1051Arg)	SNV Germline	Chr17:75828787	Conflicting classifications of pathogenicity	Familial hemophagocytic lymphohistiocytosis 3 Autoinflammatory syndrome Familial hemophagocytic lymphohistiocytosis	Criteria Provided Conflicting Classifications	CA401074000	rs_1232542382	4 SubmittersRCV001310042 RCV002264261 RCV004526107
NM_199242.3(UNC13D):c.98C>T (p.Pro33Leu)	SNV Germline	Chr17:75844240	Conflicting classifications of pathogenicity	Familial hemophagocytic lymphohistiocytosis 3 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8773679	rs_140437526	3 SubmittersRCV001373712 RCV001762653 RCV005772177
NM_199242.3(UNC13D):c.3018C>G (p.Tyr1006Ter)	SNV Germline	Chr17:75828920	Pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Single Submitter	CA401075003	rs_775862197	1 SubmittersRCV001383120
NM_199242.3(UNC13D):c.1792C>T (p.Gln598Ter)	SNV Germline	Chr17:75835465	Pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Single Submitter	CA401092518	rs_1422897832	1 SubmittersRCV001386311
NM_199242.3(UNC13D):c.1545-2A>G	SNV Germline	Chr17:75835908	Pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Single Submitter	CA401097221	rs_766615729	1 SubmittersRCV001388111
NM_199242.3(UNC13D):c.1055+1G>A	SNV Germline	Chr17:75839838	Pathogenic/Likely pathogenic	Familial hemophagocytic lymphohistiocytosis 3 Autoinflammatory syndrome Familial cancer of breast Malignant tumor of esophagus	Criteria Provided Multiple Submitters No Conflicts	CA8773158	rs_754205110	5 SubmittersRCV001383010 RCV002264288 RCV005912632 RCV005912633
NM_199242.3(UNC13D):c.883C>T (p.Gln295Ter)	SNV Germline	Chr17:75840086	Pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Single Submitter	CA401107908	rs_2143892028	1 SubmittersRCV001390033
NM_199242.3(UNC13D):c.779G>A (p.Trp260Ter)	SNV Germline	Chr17:75840304	Pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Single Submitter	CA401109479	rs_943094444	1 SubmittersRCV001388009
NM_199242.3(UNC13D):c.2973G>A (p.Pro991=)	SNV Germline	Chr17:75828965	Conflicting classifications of pathogenicity	Familial hemophagocytic lymphohistiocytosis 3 Autoinflammatory syndrome	Criteria Provided Conflicting Classifications	CA8772319	rs_564875531	2 SubmittersRCV001417539 RCV002264307
NM_199242.3(UNC13D):c.760C>T (p.Arg254Cys)	SNV Germline	Chr17:75840323	Conflicting classifications of pathogenicity	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Conflicting Classifications	CA8773280	rs_558726483	2 SubmittersRCV001393590
NM_199242.3(UNC13D):c.1626G>A (p.Thr542=)	SNV Germline	Chr17:75835748	Conflicting classifications of pathogenicity	Familial hemophagocytic lymphohistiocytosis 3 Autoinflammatory syndrome not specified	Criteria Provided Conflicting Classifications	CA8772864	rs_371924071	3 SubmittersRCV001432424 RCV002264316 RCV003151315
NM_199242.3(UNC13D):c.261+9G>A	SNV Germline	Chr17:75843150	Conflicting classifications of pathogenicity	Familial hemophagocytic lymphohistiocytosis 3 Autoinflammatory syndrome	Criteria Provided Conflicting Classifications	CA8773573	rs_754902598	2 SubmittersRCV001469516 RCV002264338
NM_199242.3(UNC13D):c.2637G>A (p.Arg879=)	SNV Germline	Chr17:75830650	Conflicting classifications of pathogenicity	Familial hemophagocytic lymphohistiocytosis 3 Autoinflammatory syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA501843300	rs_1372708758	3 SubmittersRCV001488590 RCV002264349 RCV006443953
NM_199242.3(UNC13D):c.118-307G>A	SNV Germline	Chr17:75843826	Pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Multiple Submitters No Conflicts	CA294090505	rs_1019391145	3 SubmittersRCV001728113
NM_199242.3(UNC13D):c.754-1G>C	SNV Germline	Chr17:75840330	Pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Multiple Submitters No Conflicts	CA8773282	rs_753990040	4 SubmittersRCV001728114
NM_199242.3(UNC13D):c.2672T>C (p.Leu891Pro)	SNV Germline	Chr17:75830615	Conflicting classifications of pathogenicity	not specified Familial hemophagocytic lymphohistiocytosis 3 See cases	Criteria Provided Conflicting Classifications	CA401080712	rs_1359661881	3 SubmittersRCV001797960 RCV001868903 RCV002222265
NM_199242.3(UNC13D):c.751C>T (p.Gln251Ter)	SNV Germline	Chr17:75840509	Pathogenic	Familial hemophagocytic lymphohistiocytosis 3 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA401109968	rs_2143893153	3 SubmittersRCV001808212 RCV004720943
NM_199242.3(UNC13D):c.1807G>T (p.Glu603Ter)	SNV Germline	Chr17:75835450	Pathogenic/Likely pathogenic	Familial hemophagocytic lymphohistiocytosis 3 Autoinflammatory syndrome	Criteria Provided Multiple Submitters No Conflicts	CA8772802	rs_755348845	3 SubmittersRCV001920466 RCV002264425
NM_199242.3(UNC13D):c.614+1G>T	SNV Germline	Chr17:75840956	Likely pathogenic	Familial hemophagocytic lymphohistiocytosis 3 UNC13D-related disorder	Criteria Provided Single Submitter	CA294089613	rs_866629962	2 SubmittersRCV001990613 RCV004746549
NM_199242.3(UNC13D):c.322-2A>T	SNV Germline	Chr17:75842925	Pathogenic/Likely pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Multiple Submitters No Conflicts	CA8773515	rs_752651197	2 SubmittersRCV001950836
NM_199242.3(UNC13D):c.640C>T (p.Arg214Ter)	SNV Germline	Chr17:75840805	Pathogenic	Familial hemophagocytic lymphohistiocytosis 3 Autoinflammatory syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA8773369	rs_769243366	4 SubmittersRCV001942001 RCV002264436 RCV004809714
NM_199242.3(UNC13D):c.817C>T (p.Arg273Ter)	SNV Germline	Chr17:75840266	Pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Multiple Submitters No Conflicts	CA8773266	rs_201589664	5 SubmittersRCV001911512
NM_199242.3(UNC13D):c.2709+2T>A	SNV Germline	Chr17:75830576	Pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Multiple Submitters No Conflicts	CA401080493	rs_2143865621	2 SubmittersRCV002046853
NM_199242.3(UNC13D):c.2851C>T (p.Gln951Ter)	SNV Germline	Chr17:75830131	Pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Single Submitter	CA401078617	rs_2064860460	1 SubmittersRCV001914052
NM_199242.3(UNC13D):c.2448-13G>A	SNV Germline	Chr17:75831361	Conflicting classifications of pathogenicity	Familial hemophagocytic lymphohistiocytosis 3 Familial hemophagocytic lymphohistiocytosis	Criteria Provided Conflicting Classifications	CA8772507	rs_753762300	5 SubmittersRCV002021777 RCV002469449
NM_199242.3(UNC13D):c.321+9G>A	SNV Germline	Chr17:75843005	Conflicting classifications of pathogenicity	Familial hemophagocytic lymphohistiocytosis 3 Autoinflammatory syndrome	Criteria Provided Conflicting Classifications	CA2573154841	rs_779684660	2 SubmittersRCV002191425 RCV002264479
NM_199242.3(UNC13D):c.2710-8C>G	SNV Germline	Chr17:75830490	Conflicting classifications of pathogenicity	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Conflicting Classifications	CA8772407	rs_545824447	2 SubmittersRCV002100697
NM_199242.3(UNC13D):c.1612C>T (p.Gln538Ter)	SNV Germline	Chr17:75835762	Pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Single Submitter	CA401096537	rs_1426054272	1 SubmittersRCV002251040
NM_199242.3(UNC13D):c.154-9G>A	SNV Germline	Chr17:75843275	Conflicting classifications of pathogenicity	See cases Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Conflicting Classifications	CA2510825745	rs_2064962405	2 SubmittersRCV002252382 RCV003497946
NM_199242.3(UNC13D):c.389-13C>T	SNV Germline	Chr17:75842626	Conflicting classifications of pathogenicity	See cases Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Conflicting Classifications	CA627596588	rs_1376263454	2 SubmittersRCV002252383 RCV003094137
NM_199242.3(UNC13D):c.1857C>T (p.Pro619=)	SNV Germline	Chr17:75835055	Conflicting classifications of pathogenicity	Autoinflammatory syndrome Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Conflicting Classifications	CA501844531	rs_2143877155	2 SubmittersRCV002264551 RCV003603117
NM_199242.3(UNC13D):c.2259C>A (p.Gly753=)	SNV Germline	Chr17:75834364	Conflicting classifications of pathogenicity	Autoinflammatory syndrome Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Conflicting Classifications	CA502049719	rs_1354115593	2 SubmittersRCV002264554 RCV003774810
NM_199242.3(UNC13D):c.2370C>T (p.Ala790=)	SNV Germline	Chr17:75833043	Conflicting classifications of pathogenicity	Autoinflammatory syndrome Familial hemophagocytic lymphohistiocytosis 3 UNC13D-related disorder	Criteria Provided Conflicting Classifications	CA8772566	rs_747428323	3 SubmittersRCV002264556 RCV003101475 RCV003903644
NM_199242.3(UNC13D):c.570-2A>T	SNV Germline	Chr17:75841003	Pathogenic/Likely pathogenic	Autoinflammatory syndrome Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Multiple Submitters No Conflicts	CA401111896	rs_770325118	2 SubmittersRCV002264563 RCV003497947
NM_199242.3(UNC13D):c.3049G>A (p.Glu1017Lys)	SNV Germline	Chr17:75828889	Conflicting classifications of pathogenicity	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Conflicting Classifications	CA8772294	rs_776737156	2 SubmittersRCV002283946
NM_199242.3(UNC13D):c.3053C>A (p.Ala1018Asp)	SNV Germline	Chr17:75828885	Pathogenic/Likely pathogenic	Condition: not provided Familial hemophagocytic lymphohistiocytosis 3 Familial hemophagocytic lymphohistiocytosis	Criteria Provided Multiple Submitters No Conflicts	CA8772291	rs_778829355	4 SubmittersRCV002508863 RCV002574720 RCV005058883
NM_199242.3(UNC13D):c.570-2A>G	SNV Germline	Chr17:75841003	Likely pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Single Submitter	CA8773408	rs_770325118	1 SubmittersRCV002592039
NM_199242.3(UNC13D):c.2447+2T>C	SNV Germline	Chr17:75832964	Likely pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Multiple Submitters No Conflicts	CA401084448	rs_1471901138	2 SubmittersRCV002632467
NM_199242.3(UNC13D):c.683+1G>A	SNV Germline	Chr17:75840761	Likely pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Single Submitter	CA401111178	rs_2545985776	1 SubmittersRCV002585605
NM_199242.3(UNC13D):c.1637A>G (p.Asp546Gly)	SNV Germline	Chr17:75835737	Conflicting classifications of pathogenicity	Inborn genetic diseases Familial hemophagocytic lymphohistiocytosis 3 not specified	Criteria Provided Conflicting Classifications	CA294086816	rs_893119657	3 SubmittersRCV002603366 RCV002615825 RCV003988058
NM_199242.3(UNC13D):c.2434G>T (p.Glu812Ter)	SNV Germline	Chr17:75832979	Pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Single Submitter	CA401084632	rs_2545978868	1 SubmittersRCV002871978
NM_199242.3(UNC13D):c.321+2T>G	SNV Germline	Chr17:75843012	Likely pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Single Submitter	CA401115749	rs_2545987854	1 SubmittersRCV003037544
NM_199242.3(UNC13D):c.2704C>T (p.Gln902Ter)	SNV Germline	Chr17:75830583	Pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Single Submitter	CA401080519	rs_2545977102	1 SubmittersRCV003052402
NM_199242.3(UNC13D):c.151C>T (p.Gln51Ter)	SNV Germline	Chr17:75843486	Pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Single Submitter	CA401117994	rs_2545988497	1 SubmittersRCV003498095
NM_199242.3(UNC13D):c.952-2A>G	SNV Germline	Chr17:75839944	Likely pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Single Submitter	CA401106972	rs_1252952514	1 SubmittersRCV003498952
NM_199242.3(UNC13D):c.2709+1G>T	SNV Germline	Chr17:75830577	Pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Single Submitter	CA401080495	rs_1555600214	1 SubmittersRCV003498931
NM_199242.3(UNC13D):c.1045C>T (p.Gln349Ter)	SNV Germline	Chr17:75839849	Pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Single Submitter	CA401105896	rs_2545984867	1 SubmittersRCV003499130
NM_199242.3(UNC13D):c.3193C>T (p.Arg1065Ter)	SNV Germline	Chr17:75828045	Pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Multiple Submitters No Conflicts	CA8772230	rs_774921373	2 SubmittersRCV003497338
NM_199242.3(UNC13D):c.2296C>T (p.Gln766Ter)	SNV Germline	Chr17:75834327	Pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Single Submitter	CA294086316	rs_375472517	1 SubmittersRCV003497340
NM_199242.3(UNC13D):c.1848+1G>C	SNV Germline	Chr17:75835408	Likely pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Single Submitter	CA401092032	rs_2545981250	1 SubmittersRCV003497341
NM_199242.3(UNC13D):c.1825C>T (p.Gln609Ter)	SNV Germline	Chr17:75835432	Pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Single Submitter	CA401092226	rs_2545981285	1 SubmittersRCV003497342
NM_199242.3(UNC13D):c.1387C>T (p.Gln463Ter)	SNV Germline	Chr17:75836341	Pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Single Submitter	CA401099140	rs_2545982383	1 SubmittersRCV003497344
NM_199242.3(UNC13D):c.1241G>T (p.Arg414Leu)	SNV Germline	Chr17:75836629	Pathogenic/Likely pathogenic	Familial hemophagocytic lymphohistiocytosis 3 Condition: not provided Familial hemophagocytic lymphohistiocytosis	Criteria Provided Multiple Submitters No Conflicts	CA8773065	rs_768171054	3 SubmittersRCV003497345 RCV004719354 RCV005063026
NM_199242.3(UNC13D):c.1173+1G>A	SNV Germline	Chr17:75836800	Likely pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Single Submitter	CA401101464	rs_2545982922	1 SubmittersRCV003498424
NM_199242.3(UNC13D):c.153+1G>A	SNV Germline	Chr17:75843483	Likely pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Single Submitter	CA401117964	rs_1029026260	1 SubmittersRCV003603400
NM_199242.3(UNC13D):c.148G>T (p.Glu50Ter)	SNV Germline	Chr17:75843489	Pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Single Submitter	CA401118030	rs_756652448	1 SubmittersRCV003604237
NM_199242.3(UNC13D):c.1763G>A (p.Trp588Ter)	SNV Germline	Chr17:75835494	Pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Single Submitter	CA401092837	rs_2545981358	1 SubmittersRCV003604260
NM_199242.3(UNC13D):c.252C>A (p.Tyr84Ter)	SNV Germline	Chr17:75843168	Pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Single Submitter	CA401116678	rs_2545988044	1 SubmittersRCV003604314
NM_199242.3(UNC13D):c.780G>A (p.Trp260Ter)	SNV Germline	Chr17:75840303	Pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Single Submitter	CA8773276	rs_769371398	1 SubmittersRCV003604453
NM_199242.3(UNC13D):c.753+1G>A	SNV Germline	Chr17:75840506	Pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Single Submitter	CA401109938	rs_201908137	1 SubmittersRCV003604830
NM_199242.3(UNC13D):c.154-1G>T	SNV Germline	Chr17:75843267	Likely pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Single Submitter	CA401117800	rs_2545988159	1 SubmittersRCV003604973
NM_199242.3(UNC13D):c.1486C>T (p.Gln496Ter)	SNV Germline	Chr17:75836070	Pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Single Submitter	CA401097821	rs_1462252996	1 SubmittersRCV003604769
NM_199242.3(UNC13D):c.1728-2A>C	SNV Germline	Chr17:75835531	Likely pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Single Submitter	CA401093296	rs_1160623744	1 SubmittersRCV003604796
NM_199242.3(UNC13D):c.943C>T (p.Gln315Ter)	SNV Germline	Chr17:75840026	Pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Single Submitter	CA401107209	rs_2545985023	1 SubmittersRCV003602601
NM_199242.3(UNC13D):c.1721C>G (p.Ser574Ter)	SNV Germline	Chr17:75835653	Pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Multiple Submitters No Conflicts	CA401093534	rs_981574088	2 SubmittersRCV003848326
NM_199242.3(UNC13D):c.262-1G>A	SNV Germline	Chr17:75843074	Pathogenic/Likely pathogenic	Familial hemophagocytic lymphohistiocytosis 3 Familial hemophagocytic lymphohistiocytosis	Criteria Provided Multiple Submitters No Conflicts	CA401116391	rs_2064960622	2 SubmittersRCV003843030 RCV005240958
NM_199242.3(UNC13D):c.2625+1G>A	SNV Germline	Chr17:75831097	Likely pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Single Submitter	CA401081028	rs_2545977596	1 SubmittersRCV003859742
NM_199242.3(UNC13D):c.1298+2T>C	SNV Germline	Chr17:75836570	Likely pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Single Submitter	CA294087146	rs_1030766172	1 SubmittersRCV003875833
NM_199242.3(UNC13D):c.1848+1G>A	SNV Germline	Chr17:75835408	Pathogenic/Likely pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Multiple Submitters No Conflicts	CA401092035	rs_2545981250	2 SubmittersRCV003874877
NM_199242.3(UNC13D):c.3152-2A>C	SNV Germline	Chr17:75828088	Likely pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Single Submitter			1 SubmittersRCV005022756
NM_199242.3(UNC13D):c.1193C>A (p.Ser398Ter)	SNV Germline	Chr17:75836677	Likely pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Single Submitter			1 SubmittersRCV005022760
NM_199242.3(UNC13D):c.1177G>T (p.Glu393Ter)	SNV Germline	Chr17:75836693	Likely pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Single Submitter			1 SubmittersRCV005026123
NM_199242.3(UNC13D):c.858+1G>A	SNV Germline	Chr17:75840224	Likely pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Single Submitter			1 SubmittersRCV005026124
NM_199242.3(UNC13D):c.810C>A (p.Tyr270Ter)	SNV Germline	Chr17:75840273	Pathogenic/Likely pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005026125
NM_199242.3(UNC13D):c.783C>G (p.Tyr261Ter)	SNV Germline	Chr17:75840300	Likely pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Single Submitter			1 SubmittersRCV005026126
NM_199242.3(UNC13D):c.289C>T (p.Gln97Ter)	SNV Germline	Chr17:75843046	Likely pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Single Submitter			1 SubmittersRCV005026127
NM_199242.3(UNC13D):c.118-2A>G	SNV Germline	Chr17:75843521	Likely pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Single Submitter			1 SubmittersRCV005022762
NM_199242.3(UNC13D):c.117+1G>A	SNV Germline	Chr17:75844220	Likely pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Single Submitter			1 SubmittersRCV005070214
NM_199242.3(UNC13D):c.2119C>T (p.Gln707Ter)	SNV Germline	Chr17:75834504	Pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Single Submitter			1 SubmittersRCV005182037
NM_199242.3(UNC13D):c.2625+2T>C	SNV Germline	Chr17:75831096	Likely pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Single Submitter			1 SubmittersRCV005255061
NM_199242.3(UNC13D):c.1544+1G>A	SNV Germline	Chr17:75836011	Likely pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Single Submitter			1 SubmittersRCV005413317
NM_199242.3(UNC13D):c.2701C>T (p.Gln901Ter)	SNV Germline	Chr17:75830586	Likely pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Single Submitter			1 SubmittersRCV005631704
NM_199242.3(UNC13D):c.2091+2T>G	SNV Germline	Chr17:75834616	Likely pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Single Submitter			1 SubmittersRCV005884603
NM_199242.3(UNC13D):c.1597-1G>T	SNV Germline	Chr17:75835778	Pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Single Submitter			1 SubmittersRCV005884614
NM_199242.3(UNC13D):c.2954+2T>C	SNV Germline	Chr17:75830026	Pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Single Submitter			1 SubmittersRCV006252524
NM_199242.3(UNC13D):c.2955-2A>G	SNV Germline	Chr17:75828985	Likely pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Single Submitter			1 SubmittersRCV006510153
NM_199242.3(UNC13D):c.2062C>T (p.Gln688Ter)	SNV Germline	Chr17:75834647	Pathogenic	Familial hemophagocytic lymphohistiocytosis 3	Criteria Provided Single Submitter			1 SubmittersRCV006529352

NM_199242.3(UNC13D):c.1389+1G>A

SNV
Germline

Chr17:75836338

Pathogenic

Familial hemophagocytic lymphohistiocytosis 3
Condition: not provided
Autoinflammatory syndrome
Colon adenocarcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA252030

rs_777759523

11 SubmittersRCV000002076 RCV000380656 RCV002262537 RCV005887201

NM_199242.3(UNC13D):c.766C>T (p.Arg256Ter)

SNV
Germline

Chr17:75840317

Pathogenic/Likely pathogenic

Familial hemophagocytic lymphohistiocytosis 3
Condition: not provided
Autoinflammatory syndrome
UNC13D-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA252031

rs_121434352

7 SubmittersRCV000002077 RCV000760447 RCV002262538 RCV004745140

NM_199242.3(UNC13D):c.753+1G>T

SNV
Germline

Chr17:75840506

Pathogenic

Familial hemophagocytic lymphohistiocytosis 3
Condition: not provided
Familial hemophagocytic lymphohistiocytosis

Criteria Provided
Multiple Submitters
No Conflicts

CA252034

rs_201908137

8 SubmittersRCV000002078 RCV000288588 RCV006268065

NM_199242.3(UNC13D):c.1208T>C (p.Leu403Pro)

SNV
Germline

Chr17:75836662

Pathogenic

Familial hemophagocytic lymphohistiocytosis 3
Familial hemophagocytic lymphohistiocytosis

Criteria Provided
Single Submitter

CA252035

rs_121434353

2 SubmittersRCV000002079 RCV005430913

NM_199242.3(UNC13D):c.2570T>G (p.Phe857Cys)

SNV
Germline

Chr17:75831153

Pathogenic

Familial hemophagocytic lymphohistiocytosis 3

No Assertion Criteria Provided

CA252038

rs_121434354

1 SubmittersRCV000002080

NM_199242.3(UNC13D):c.2588G>A (p.Gly863Asp)

SNV
Germline

Chr17:75831135

Conflicting classifications of pathogenicity

Familial hemophagocytic lymphohistiocytosis 3
Autoinflammatory syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8772459

rs_140184929

6 SubmittersRCV000490335 RCV002262801 RCV002509306 RCV005645043

NM_199242.3(UNC13D):c.1228A>C (p.Ile410Leu)

SNV
Germline

Chr17:75836642

Conflicting classifications of pathogenicity

not specified
Familial hemophagocytic lymphohistiocytosis 3
Condition: not provided
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

CA8773072

rs_117221419

6 SubmittersRCV000249783 RCV000490433 RCV000879455 RCV002262802

NM_199242.3(UNC13D):c.271G>A (p.Val91Met)

SNV
Germline

Chr17:75843064

Conflicting classifications of pathogenicity

Condition: not provided
Familial hemophagocytic lymphohistiocytosis 3
UNC13D-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8773546

rs_374308904

4 SubmittersRCV000224157 RCV001219590 RCV003422127 RCV004020718

NM_199242.3(UNC13D):c.3078C>T (p.Pro1026=)

SNV
Germline

Chr17:75828860

Conflicting classifications of pathogenicity

not specified
Familial hemophagocytic lymphohistiocytosis 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8772278

rs_372034111

4 SubmittersRCV000251612 RCV000298155 RCV003884439

NM_199242.3(UNC13D):c.2896C>T (p.Arg966Trp)

SNV
Germline

Chr17:75830086

Conflicting classifications of pathogenicity

not specified
Familial hemophagocytic lymphohistiocytosis 3
Condition: not provided
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

CA8772349

rs_118049905

7 SubmittersRCV000242082 RCV000542743 RCV001753732 RCV002262916

NM_199242.3(UNC13D):c.175G>A (p.Ala59Thr)

SNV
Germline

Chr17:75843245

Conflicting classifications of pathogenicity

not specified
Familial hemophagocytic lymphohistiocytosis 3
Autoinflammatory syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8773587

rs_9904366

8 SubmittersRCV000252059 RCV000547857 RCV002262912 RCV005639100

NM_199242.3(UNC13D):c.99G>A (p.Pro33=)

SNV
Germline

Chr17:75844239

Conflicting classifications of pathogenicity

Familial hemophagocytic lymphohistiocytosis 3
Autoinflammatory syndrome
UNC13D-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8773676

rs_147886860

5 SubmittersRCV000640121 RCV002262919 RCV003891999 RCV004808659

NM_199242.3(UNC13D):c.24G>A (p.Pro8=)

SNV
Germline

Chr17:75844314

Conflicting classifications of pathogenicity

Familial hemophagocytic lymphohistiocytosis 3
Autoinflammatory syndrome
UNC13D-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8773698

rs_143320460

5 SubmittersRCV000640120 RCV002262914 RCV003891998 RCV004808658

NM_199242.3(UNC13D):c.3141C>A (p.Pro1047=)

SNV
Germline

Chr17:75828797

Conflicting classifications of pathogenicity

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Conflicting Classifications

CA10640577

rs_866899109

3 SubmittersRCV000640093

NM_199242.3(UNC13D):c.2002C>T (p.Arg668Cys)

SNV
Germline

Chr17:75834707

Conflicting classifications of pathogenicity

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Conflicting Classifications

CA8772704

rs_376137910

3 SubmittersRCV000902750

NM_199242.3(UNC13D):c.972C>T (p.Asp324=)

SNV
Germline

Chr17:75839922

Conflicting classifications of pathogenicity

Familial hemophagocytic lymphohistiocytosis 3
Autoinflammatory syndrome
not specified

Criteria Provided
Conflicting Classifications

CA8773178

rs_368990813

5 SubmittersRCV000768127 RCV002263030 RCV001820977

NM_199242.3(UNC13D):c.156G>T (p.Arg52=)

SNV
Germline

Chr17:75843264

Conflicting classifications of pathogenicity

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Conflicting Classifications

CA10640594

rs_111728477

2 SubmittersRCV000262937

NM_199242.3(UNC13D):c.3033C>T (p.Ala1011=)

SNV
Germline

Chr17:75828905

Conflicting classifications of pathogenicity

Familial hemophagocytic lymphohistiocytosis 3
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

CA8772299

rs_144730861

3 SubmittersRCV000640115 RCV002263023

NM_199242.3(UNC13D):c.2368-5C>T

SNV
Germline

Chr17:75833050

Conflicting classifications of pathogenicity

Familial hemophagocytic lymphohistiocytosis 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8772567

rs_180768962

3 SubmittersRCV000902495 RCV006441884

NM_199242.3(UNC13D):c.1389+12G>A

SNV
Germline

Chr17:75836327

Conflicting classifications of pathogenicity

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Conflicting Classifications

CA8773007

rs_199536082

2 SubmittersRCV000279727

NM_199242.3(UNC13D):c.273G>A (p.Val91=)

SNV
Germline

Chr17:75843062

Conflicting classifications of pathogenicity

Familial hemophagocytic lymphohistiocytosis 3
not specified

Criteria Provided
Conflicting Classifications

CA8773545

rs_149494974

3 SubmittersRCV000904103 RCV001820978

NM_199242.2(UNC13D):c.-260C>T

SNV
Germline

Chr17:75844597

Conflicting classifications of pathogenicity

Familial hemophagocytic lymphohistiocytosis 3
Autoinflammatory syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10646815

rs_113482537

3 SubmittersRCV000315493 RCV002263032 RCV004709747

NM_199242.3(UNC13D):c.2830+7G>A

SNV
Germline

Chr17:75830355

Conflicting classifications of pathogenicity

Familial hemophagocytic lymphohistiocytosis 3
Condition: not provided
UNC13D-related disorder

Criteria Provided
Conflicting Classifications

CA8772378

rs_201023196

5 SubmittersRCV000972185 RCV001702001 RCV003940289

NM_199242.3(UNC13D):c.2341G>A (p.Val781Ile)

SNV
Germline

Chr17:75834101

Conflicting classifications of pathogenicity

Condition: not provided
Familial hemophagocytic lymphohistiocytosis 3
not specified
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

CA8772587

rs_149871493

12 SubmittersRCV000734023 RCV001083279 RCV002265731 RCV002263025

NM_199242.3(UNC13D):c.2241C>T (p.Ser747=)

SNV
Germline

Chr17:75834382

Conflicting classifications of pathogenicity

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Conflicting Classifications

CA8772633

rs_372453702

2 SubmittersRCV000640102

NM_199242.3(UNC13D):c.2180G>A (p.Arg727Gln)

SNV
Germline

Chr17:75834443

Conflicting classifications of pathogenicity

Familial hemophagocytic lymphohistiocytosis 3
not specified
Autoinflammatory syndrome
Ovarian serous cystadenocarcinoma

Criteria Provided
Conflicting Classifications

CA8772646

rs_747390615

4 SubmittersRCV000355372 RCV003401341 RCV002263026 RCV005894672

NM_199242.3(UNC13D):c.1204C>T (p.Leu402=)

SNV
Germline

Chr17:75836666

Conflicting classifications of pathogenicity

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Conflicting Classifications

CA8773079

rs_568125844

2 SubmittersRCV000339412

NM_199242.3(UNC13D):c.2695C>T (p.Arg899Ter)

SNV
Germline

Chr17:75830592

Pathogenic

Familial hemophagocytic lymphohistiocytosis 3
Condition: not provided
Autoinflammatory syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA8772432

rs_766657895

8 SubmittersRCV000323586 RCV001702002 RCV002263024

NM_199242.3(UNC13D):c.858+12A>C

SNV
Germline

Chr17:75840213

Conflicting classifications of pathogenicity

Familial hemophagocytic lymphohistiocytosis 3
not specified

Criteria Provided
Conflicting Classifications

CA8773253

rs_191712530

3 SubmittersRCV000274690 RCV004701413

NM_199242.3(UNC13D):c.444G>A (p.Gly148=)

SNV
Germline

Chr17:75842558

Conflicting classifications of pathogenicity

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Conflicting Classifications

CA8773482

rs_373551579

2 SubmittersRCV000640109

NM_199242.3(UNC13D):c.147C>T (p.Pro49=)

SNV
Germline

Chr17:75843490

Conflicting classifications of pathogenicity

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Conflicting Classifications

CA8773622

rs_749672259

2 SubmittersRCV000318875

NM_199242.3(UNC13D):c.919C>T (p.Gln307Ter)

SNV
Germline

Chr17:75840050

Pathogenic/Likely pathogenic

Condition: not provided
Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Multiple Submitters
No Conflicts

CA8773208

rs_747169857

3 SubmittersRCV000414378 RCV001861424

NM_199242.3(UNC13D):c.753+3G>A

SNV
Germline

Chr17:75840504

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Familial hemophagocytic lymphohistiocytosis 3
Autoinflammatory syndrome
UNC13D-related disorder

Criteria Provided
Conflicting Classifications

CA8773311

rs_116229331

10 SubmittersRCV000422858 RCV000544050 RCV001086175 RCV002261085 RCV003970151

NM_199242.3(UNC13D):c.2335G>A (p.Val779Met)

SNV
Germline

Chr17:75834107

Conflicting classifications of pathogenicity

not specified
Familial hemophagocytic lymphohistiocytosis 3
Condition: not provided
Autoinflammatory syndrome
UNC13D-related disorder
Intellectual disability

Criteria Provided
Conflicting Classifications

CA8772589

rs_113861754

11 SubmittersRCV000455177 RCV000548831 RCV001703174 RCV002263693 RCV003912793 RCV005625608

NM_199242.3(UNC13D):c.1299-1G>A

SNV
Germline

Chr17:75836430

Likely pathogenic

Familial hemophagocytic lymphohistiocytosis 3

No Assertion Criteria Provided

CA401100012

rs_1555601863

1 SubmittersRCV000509013

NM_199242.3(UNC13D):c.2709+1G>A

SNV
Germline

Chr17:75830577

Pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Single Submitter

CA401080505

rs_1555600214

2 SubmittersRCV000509027

NM_199242.3(UNC13D):c.1847A>G (p.Glu616Gly)

SNV
Germline

Chr17:75835410

Pathogenic

Condition: not provided
Familial hemophagocytic lymphohistiocytosis
Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Multiple Submitters
No Conflicts

CA401092049

rs_754621494

3 SubmittersRCV000514775 RCV001778988 RCV003497856

NM_199242.3(UNC13D):c.2542A>C (p.Ile848Leu)

SNV
Germline

Chr17:75831254

Conflicting classifications of pathogenicity

Condition: not provided
Familial hemophagocytic lymphohistiocytosis 3
not specified
Autoinflammatory syndrome
UNC13D-related disorder

Criteria Provided
Conflicting Classifications

CA8772485

rs_144968313

11 SubmittersRCV000762002 RCV001081750 RCV001821540 RCV002263768 RCV004745455

NM_199242.3(UNC13D):c.2983G>C (p.Ala995Pro)

SNV
Germline

Chr17:75828955

Conflicting classifications of pathogenicity

Condition: not provided
Familial hemophagocytic lymphohistiocytosis 3
Autoinflammatory syndrome
not specified
UNC13D-related disorder

Criteria Provided
Conflicting Classifications

CA8772316

rs_138760432

12 SubmittersRCV000762001 RCV001081751 RCV002263769 RCV001821541 RCV004745456

NM_199242.3(UNC13D):c.1727+1G>A

SNV
Germline

Chr17:75835646

Pathogenic/Likely pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Multiple Submitters
No Conflicts

CA8772849

rs_754882266

3 SubmittersRCV000640104

NM_199242.3(UNC13D):c.227C>T (p.Thr76Met)

SNV
Germline

Chr17:75843193

Conflicting classifications of pathogenicity

Familial hemophagocytic lymphohistiocytosis 3
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8773582

rs_78028658

4 SubmittersRCV000640097 RCV002222570 RCV001771866

NM_199242.3(UNC13D):c.118-308C>T

SNV
Germline

Chr17:75843827

Pathogenic/Likely pathogenic

Familial hemophagocytic lymphohistiocytosis 3
Condition: not provided
Familial hemophagocytic lymphohistiocytosis

Criteria Provided
Multiple Submitters
No Conflicts

CA294090507

rs_959968589

9 SubmittersRCV000640100 RCV001788308 RCV002265832

NM_199242.3(UNC13D):c.2828A>G (p.Asn943Ser)

SNV
Germline

Chr17:75830364

Conflicting classifications of pathogenicity

Familial hemophagocytic lymphohistiocytosis 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8772379

rs_147748627

2 SubmittersRCV000640110 RCV005621989

NM_199242.3(UNC13D):c.2553+5C>G

SNV
Germline

Chr17:75831238

Conflicting classifications of pathogenicity

Familial hemophagocytic lymphohistiocytosis 3
Condition: not provided
UNC13D-related disorder

Criteria Provided
Conflicting Classifications

CA8772483

rs_201930023

8 SubmittersRCV000640122 RCV001573699 RCV003928084

NM_199242.3(UNC13D):c.1472T>A (p.Leu491Ter)

SNV
Germline

Chr17:75836084

Pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Single Submitter

CA401097928

rs_1555601754

1 SubmittersRCV000640096

NM_199242.3(UNC13D):c.1240C>T (p.Arg414Cys)

SNV
Germline

Chr17:75836630

Pathogenic/Likely pathogenic

Familial hemophagocytic lymphohistiocytosis 3
Condition: not provided
Familial hemophagocytic lymphohistiocytosis

Criteria Provided
Multiple Submitters
No Conflicts

CA8773066

rs_750811263

4 SubmittersRCV000640099 RCV001815423 RCV002282277

NM_199242.3(UNC13D):c.2293G>T (p.Glu765Ter)

SNV
Germline

Chr17:75834330

Pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Single Submitter

CA401087979

rs_763117746

1 SubmittersRCV000704492

NM_199242.3(UNC13D):c.1768C>T (p.Gln590Ter)

SNV
Germline

Chr17:75835489

Pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Single Submitter

CA401092767

rs_1567818774

1 SubmittersRCV000695218

NM_199242.3(UNC13D):c.610A>G (p.Met204Val)

SNV
Germline

Chr17:75840961

Conflicting classifications of pathogenicity

Familial hemophagocytic lymphohistiocytosis 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8773398

rs_144722609

7 SubmittersRCV000696923 RCV001572457

NM_199242.3(UNC13D):c.3173T>C (p.Leu1058Pro)

SNV
Germline

Chr17:75828065

Likely pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Single Submitter

CA401073788

rs_1278701043

1 SubmittersRCV000691140

NM_199242.3(UNC13D):c.2893G>A (p.Ala965Thr)

SNV
Germline

Chr17:75830089

Conflicting classifications of pathogenicity

Familial hemophagocytic lymphohistiocytosis 3
Intellectual disability

Criteria Provided
Conflicting Classifications

CA8772350

rs_144744401

4 SubmittersRCV000706895 RCV005626170

NM_199242.3(UNC13D):c.1820G>C (p.Arg607Pro)

SNV
Germline

Chr17:75835437

Conflicting classifications of pathogenicity

Familial hemophagocytic lymphohistiocytosis 3
Condition: not provided
Autoinflammatory syndrome
Familial hemophagocytic lymphohistiocytosis
UNC13D-related disorder

Criteria Provided
Conflicting Classifications

CA8772792

rs_377293829

5 SubmittersRCV000779232 RCV001759472 RCV002263971 RCV002265885 RCV004745585

NM_199242.3(UNC13D):c.247C>T (p.Arg83Ter)

SNV
Germline

Chr17:75843173

Pathogenic/Likely pathogenic

Familial hemophagocytic lymphohistiocytosis 3
Autoinflammatory syndrome
Familial hemophagocytic lymphohistiocytosis

Criteria Provided
Multiple Submitters
No Conflicts

CA401116746

rs_1274685768

5 SubmittersRCV000778518 RCV002263969 RCV006459900

NM_199242.3(UNC13D):c.520C>T (p.Gln174Ter)

SNV
Germline

Chr17:75842482

Pathogenic/Likely pathogenic

Familial hemophagocytic lymphohistiocytosis 3
Familial hemophagocytic lymphohistiocytosis

Criteria Provided
Multiple Submitters
No Conflicts

CA401113941

rs_1157287613

2 SubmittersRCV000822959 RCV002298791

NM_199242.3(UNC13D):c.2447+1G>A

SNV
Germline

Chr17:75832965

Likely pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Single Submitter

CA401084457

rs_1165696705

1 SubmittersRCV000792676

NM_199242.3(UNC13D):c.859-1G>C

SNV
Germline

Chr17:75840111

Likely pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Single Submitter

CA401108219

rs_1388957809

1 SubmittersRCV000806924

NM_199242.3(UNC13D):c.569+5G>A

SNV
Germline

Chr17:75842428

Likely pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Multiple Submitters
No Conflicts

CA8773437

rs_765034513

2 SubmittersRCV000801425

NM_199242.3(UNC13D):c.2499C>T (p.Ala833=)

SNV
Germline

Chr17:75831297

Conflicting classifications of pathogenicity

Familial hemophagocytic lymphohistiocytosis 3
Autoinflammatory syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8772493

rs_200014965

3 SubmittersRCV000974710 RCV002264122 RCV004710228

NM_199242.3(UNC13D):c.1232G>A (p.Arg411Gln)

SNV
Germline

Chr17:75836638

Conflicting classifications of pathogenicity

Familial hemophagocytic lymphohistiocytosis 3
Autoinflammatory syndrome
Hepatocellular carcinoma

Criteria Provided
Conflicting Classifications

CA8773068

rs_200109035

3 SubmittersRCV000879454 RCV002264042 RCV005907296

NM_199242.3(UNC13D):c.811C>T (p.Pro271Ser)

SNV
Germline

Chr17:75840272

Conflicting classifications of pathogenicity

Familial hemophagocytic lymphohistiocytosis 3
Autoinflammatory syndrome
not specified
UNC13D-related disorder

Criteria Provided
Conflicting Classifications

CA8773269

rs_139564938

5 SubmittersRCV000892592 RCV002264053 RCV001818675 RCV003968148

NM_199242.3(UNC13D):c.114G>A (p.Pro38=)

SNV
Germline

Chr17:75844224

Conflicting classifications of pathogenicity

Familial hemophagocytic lymphohistiocytosis 3
not specified
Autoinflammatory syndrome
UNC13D-related disorder

Criteria Provided
Conflicting Classifications

CA8773670

rs_755103812

5 SubmittersRCV000894710 RCV001818699 RCV002264063 RCV003920825

NM_199242.3(UNC13D):c.261+8C>T

SNV
Germline

Chr17:75843151

Conflicting classifications of pathogenicity

Familial hemophagocytic lymphohistiocytosis 3
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

CA8773574

rs_573508258

2 SubmittersRCV001520228 RCV002264059

NM_199242.3(UNC13D):c.2340C>T (p.Gly780=)

SNV
Germline

Chr17:75834102

Conflicting classifications of pathogenicity

Familial hemophagocytic lymphohistiocytosis 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8772588

rs_556654678

3 SubmittersRCV001459099 RCV004704304

NM_199242.3(UNC13D):c.118-9G>C

SNV
Germline

Chr17:75843528

Conflicting classifications of pathogenicity

Familial hemophagocytic lymphohistiocytosis 3
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

CA8773631

rs_527842266

2 SubmittersRCV000895207 RCV002264064

NM_199242.3(UNC13D):c.1215C>T (p.Tyr405=)

SNV
Germline

Chr17:75836655

Conflicting classifications of pathogenicity

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Conflicting Classifications

CA8773075

rs_143184345

2 SubmittersRCV000926579

NM_199242.3(UNC13D):c.629T>G (p.Val210Gly)

SNV
Germline

Chr17:75840816

Conflicting classifications of pathogenicity

Familial hemophagocytic lymphohistiocytosis 3
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

CA8773371

rs_553365957

3 SubmittersRCV000918232 RCV002264091

NM_199242.3(UNC13D):c.1773G>T (p.Pro591=)

SNV
Germline

Chr17:75835484

Conflicting classifications of pathogenicity

Familial hemophagocytic lymphohistiocytosis 3
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

CA8772813

rs_367988204

2 SubmittersRCV001495819 RCV002264099

NM_199242.3(UNC13D):c.1131C>G (p.Ser377Arg)

SNV
Germline

Chr17:75836843

Conflicting classifications of pathogenicity

Condition: not provided
Familial hemophagocytic lymphohistiocytosis 3
UNC13D-related disorder

Criteria Provided
Conflicting Classifications

CA8773118

rs_142335129

3 SubmittersRCV000937697 RCV001088459 RCV003895700

NM_199242.3(UNC13D):c.1014C>T (p.His338=)

SNV
Germline

Chr17:75839880

Conflicting classifications of pathogenicity

Familial hemophagocytic lymphohistiocytosis 3
Condition: not provided
UNC13D-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA8773167

rs_375097777

5 SubmittersRCV000935303 RCV003413738 RCV003913165 RCV005903190

NM_199242.3(UNC13D):c.1890G>A (p.Ala630=)

SNV
Germline

Chr17:75835022

Conflicting classifications of pathogenicity

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Conflicting Classifications

CA8772752

rs_753021453

2 SubmittersRCV000983711

NM_199242.3(UNC13D):c.2710-2A>G

SNV
Germline

Chr17:75830484

Pathogenic/Likely pathogenic

Condition: not provided
Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Multiple Submitters
No Conflicts

CA294084540

rs_910650073

2 SubmittersRCV000986191 RCV002549658

NM_199242.3(UNC13D):c.1596+1G>C

SNV
Germline

Chr17:75835854

Pathogenic

Condition: not provided
Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Multiple Submitters
No Conflicts

CA294086876

rs_933702160

3 SubmittersRCV000986193 RCV001728095

NM_199242.3(UNC13D):c.1477G>A (p.Gly493Ser)

SNV
Germline

Chr17:75836079

Conflicting classifications of pathogenicity

Familial hemophagocytic lymphohistiocytosis 3
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8772955

rs_759754878

3 SubmittersRCV001042266 RCV004792656 RCV006387104

NM_199242.3(UNC13D):c.1076G>A (p.Arg359His)

SNV
Germline

Chr17:75836898

Conflicting classifications of pathogenicity

Familial hemophagocytic lymphohistiocytosis 3
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8773127

rs_146611729

4 SubmittersRCV001051337 RCV002553737 RCV006279322

NM_199242.3(UNC13D):c.1000G>A (p.Val334Ile)

SNV
Germline

Chr17:75839894

Conflicting classifications of pathogenicity

Familial hemophagocytic lymphohistiocytosis 3
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8773172

rs_373019036

2 SubmittersRCV001039252 RCV004678898

NM_199242.3(UNC13D):c.2955-1G>A

SNV
Germline

Chr17:75828984

Likely pathogenic

Familial hemophagocytic lymphohistiocytosis 3
Familial hemophagocytic lymphohistiocytosis

Criteria Provided
Multiple Submitters
No Conflicts

CA294084276

rs_1041960684

2 SubmittersRCV001053702 RCV005438053

NM_199242.3(UNC13D):c.1215C>G (p.Tyr405Ter)

SNV
Germline

Chr17:75836655

Pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Single Submitter

CA401101075

rs_143184345

1 SubmittersRCV001090162

NM_199242.3(UNC13D):c.3067C>T (p.Arg1023Cys)

SNV
Germline

Chr17:75828871

Conflicting classifications of pathogenicity

Familial hemophagocytic lymphohistiocytosis 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8772284

rs_140599939

3 SubmittersRCV001126670 RCV004590102

NM_199242.3(UNC13D):c.2496G>A (p.Ala832=)

SNV
Germline

Chr17:75831300

Conflicting classifications of pathogenicity

Familial hemophagocytic lymphohistiocytosis 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8772495

rs_763343306

3 SubmittersRCV001124102 RCV005865461

NM_199242.3(UNC13D):c.1758C>T (p.His586=)

SNV
Germline

Chr17:75835499

Conflicting classifications of pathogenicity

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Conflicting Classifications

CA8772819

rs_759891490

2 SubmittersRCV001127180

NM_199242.3(UNC13D):c.147C>G (p.Pro49=)

SNV
Germline

Chr17:75843490

Conflicting classifications of pathogenicity

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Conflicting Classifications

CA8773623

rs_749672259

2 SubmittersRCV001124307

NM_199242.3(UNC13D):c.2554-13A>G

SNV
Germline

Chr17:75831182

Conflicting classifications of pathogenicity

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Conflicting Classifications

CA8772468

rs_533490795

2 SubmittersRCV001123033

NM_199242.3(UNC13D):c.2553+12G>A

SNV
Germline

Chr17:75831231

Conflicting classifications of pathogenicity

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Conflicting Classifications

CA8772479

rs_560520169

2 SubmittersRCV001123034

NM_199242.3(UNC13D):c.1728-13C>T

SNV
Germline

Chr17:75835542

Conflicting classifications of pathogenicity

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Conflicting Classifications

CA8772827

rs_745855631

2 SubmittersRCV001123109

NM_199242.3(UNC13D):c.1174-15C>G

SNV
Germline

Chr17:75836711

Conflicting classifications of pathogenicity

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Conflicting Classifications

CA8773091

rs_374069629

2 SubmittersRCV001124195

NM_199242.3(UNC13D):c.683+12A>C

SNV
Germline

Chr17:75840750

Conflicting classifications of pathogenicity

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Conflicting Classifications

CA1139665881

rs_2064942107

2 SubmittersRCV001127277

NM_199242.3(UNC13D):c.569+10C>T

SNV
Germline

Chr17:75842423

Conflicting classifications of pathogenicity

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Conflicting Classifications

CA8773435

rs_368069154

2 SubmittersRCV001127278

NM_199242.3(UNC13D):c.2212C>T (p.Gln738Ter)

SNV
Germline

Chr17:75834411

Pathogenic/Likely pathogenic

Familial hemophagocytic lymphohistiocytosis 3
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA8772642

rs_764507196

2 SubmittersRCV001215391 RCV002252331

NM_199242.3(UNC13D):c.551G>A (p.Trp184Ter)

SNV
Germline

Chr17:75842451

Pathogenic

Familial hemophagocytic lymphohistiocytosis 3
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA8773444

rs_754292065

3 SubmittersRCV001210685 RCV002275318

NM_199242.3(UNC13D):c.2831-13G>A

SNV
Germline

Chr17:75830164

Pathogenic/Likely pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Multiple Submitters
No Conflicts

CA294084497

rs_1005334519

2 SubmittersRCV001218863

NM_199242.3(UNC13D):c.49C>T (p.Gln17Ter)

SNV
Germline

Chr17:75844289

Pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Single Submitter

CA401120370

rs_2064970978

1 SubmittersRCV001248651

NM_199242.3(UNC13D):c.3151G>A (p.Gly1051Arg)

SNV
Germline

Chr17:75828787

Conflicting classifications of pathogenicity

Familial hemophagocytic lymphohistiocytosis 3
Autoinflammatory syndrome
Familial hemophagocytic lymphohistiocytosis

Criteria Provided
Conflicting Classifications

CA401074000

rs_1232542382

4 SubmittersRCV001310042 RCV002264261 RCV004526107

NM_199242.3(UNC13D):c.98C>T (p.Pro33Leu)

SNV
Germline

Chr17:75844240

Conflicting classifications of pathogenicity

Familial hemophagocytic lymphohistiocytosis 3
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8773679

rs_140437526

3 SubmittersRCV001373712 RCV001762653 RCV005772177

NM_199242.3(UNC13D):c.3018C>G (p.Tyr1006Ter)

SNV
Germline

Chr17:75828920

Pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Single Submitter

CA401075003

rs_775862197

1 SubmittersRCV001383120

NM_199242.3(UNC13D):c.1792C>T (p.Gln598Ter)

SNV
Germline

Chr17:75835465

Pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Single Submitter

CA401092518

rs_1422897832

1 SubmittersRCV001386311

NM_199242.3(UNC13D):c.1545-2A>G

SNV
Germline

Chr17:75835908

Pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Single Submitter

CA401097221

rs_766615729

1 SubmittersRCV001388111

NM_199242.3(UNC13D):c.1055+1G>A

SNV
Germline

Chr17:75839838

Pathogenic/Likely pathogenic

Familial hemophagocytic lymphohistiocytosis 3
Autoinflammatory syndrome
Familial cancer of breast
Malignant tumor of esophagus

Criteria Provided
Multiple Submitters
No Conflicts

CA8773158

rs_754205110

5 SubmittersRCV001383010 RCV002264288 RCV005912632 RCV005912633

NM_199242.3(UNC13D):c.883C>T (p.Gln295Ter)

SNV
Germline

Chr17:75840086

Pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Single Submitter

CA401107908

rs_2143892028

1 SubmittersRCV001390033

NM_199242.3(UNC13D):c.779G>A (p.Trp260Ter)

SNV
Germline

Chr17:75840304

Pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Single Submitter

CA401109479

rs_943094444

1 SubmittersRCV001388009

NM_199242.3(UNC13D):c.2973G>A (p.Pro991=)

SNV
Germline

Chr17:75828965

Conflicting classifications of pathogenicity

Familial hemophagocytic lymphohistiocytosis 3
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

CA8772319

rs_564875531

2 SubmittersRCV001417539 RCV002264307

NM_199242.3(UNC13D):c.760C>T (p.Arg254Cys)

SNV
Germline

Chr17:75840323

Conflicting classifications of pathogenicity

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Conflicting Classifications

CA8773280

rs_558726483

2 SubmittersRCV001393590

NM_199242.3(UNC13D):c.1626G>A (p.Thr542=)

SNV
Germline

Chr17:75835748

Conflicting classifications of pathogenicity

Familial hemophagocytic lymphohistiocytosis 3
Autoinflammatory syndrome
not specified

Criteria Provided
Conflicting Classifications

CA8772864

rs_371924071

3 SubmittersRCV001432424 RCV002264316 RCV003151315

NM_199242.3(UNC13D):c.261+9G>A

SNV
Germline

Chr17:75843150

Conflicting classifications of pathogenicity

Familial hemophagocytic lymphohistiocytosis 3
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

CA8773573

rs_754902598

2 SubmittersRCV001469516 RCV002264338

NM_199242.3(UNC13D):c.2637G>A (p.Arg879=)

SNV
Germline

Chr17:75830650

Conflicting classifications of pathogenicity

Familial hemophagocytic lymphohistiocytosis 3
Autoinflammatory syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA501843300

rs_1372708758

3 SubmittersRCV001488590 RCV002264349 RCV006443953

NM_199242.3(UNC13D):c.118-307G>A

SNV
Germline

Chr17:75843826

Pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Multiple Submitters
No Conflicts

CA294090505

rs_1019391145

3 SubmittersRCV001728113

NM_199242.3(UNC13D):c.754-1G>C

SNV
Germline

Chr17:75840330

Pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Multiple Submitters
No Conflicts

CA8773282

rs_753990040

4 SubmittersRCV001728114

NM_199242.3(UNC13D):c.2672T>C (p.Leu891Pro)

SNV
Germline

Chr17:75830615

Conflicting classifications of pathogenicity

not specified
Familial hemophagocytic lymphohistiocytosis 3
See cases

Criteria Provided
Conflicting Classifications

CA401080712

rs_1359661881

3 SubmittersRCV001797960 RCV001868903 RCV002222265

NM_199242.3(UNC13D):c.751C>T (p.Gln251Ter)

SNV
Germline

Chr17:75840509

Pathogenic

Familial hemophagocytic lymphohistiocytosis 3
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA401109968

rs_2143893153

3 SubmittersRCV001808212 RCV004720943

NM_199242.3(UNC13D):c.1807G>T (p.Glu603Ter)

SNV
Germline

Chr17:75835450

Pathogenic/Likely pathogenic

Familial hemophagocytic lymphohistiocytosis 3
Autoinflammatory syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA8772802

rs_755348845

3 SubmittersRCV001920466 RCV002264425

NM_199242.3(UNC13D):c.614+1G>T

SNV
Germline

Chr17:75840956

Likely pathogenic

Familial hemophagocytic lymphohistiocytosis 3
UNC13D-related disorder

Criteria Provided
Single Submitter

CA294089613

rs_866629962

2 SubmittersRCV001990613 RCV004746549

NM_199242.3(UNC13D):c.322-2A>T

SNV
Germline

Chr17:75842925

Pathogenic/Likely pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Multiple Submitters
No Conflicts

CA8773515

rs_752651197

2 SubmittersRCV001950836

NM_199242.3(UNC13D):c.640C>T (p.Arg214Ter)

SNV
Germline

Chr17:75840805

Pathogenic

Familial hemophagocytic lymphohistiocytosis 3
Autoinflammatory syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA8773369

rs_769243366

4 SubmittersRCV001942001 RCV002264436 RCV004809714

NM_199242.3(UNC13D):c.817C>T (p.Arg273Ter)

SNV
Germline

Chr17:75840266

Pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Multiple Submitters
No Conflicts

CA8773266

rs_201589664

5 SubmittersRCV001911512

NM_199242.3(UNC13D):c.2709+2T>A

SNV
Germline

Chr17:75830576

Pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Multiple Submitters
No Conflicts

CA401080493

rs_2143865621

2 SubmittersRCV002046853

NM_199242.3(UNC13D):c.2851C>T (p.Gln951Ter)

SNV
Germline

Chr17:75830131

Pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Single Submitter

CA401078617

rs_2064860460

1 SubmittersRCV001914052

NM_199242.3(UNC13D):c.2448-13G>A

SNV
Germline

Chr17:75831361

Conflicting classifications of pathogenicity

Familial hemophagocytic lymphohistiocytosis 3
Familial hemophagocytic lymphohistiocytosis

Criteria Provided
Conflicting Classifications

CA8772507

rs_753762300

5 SubmittersRCV002021777 RCV002469449

NM_199242.3(UNC13D):c.321+9G>A

SNV
Germline

Chr17:75843005

Conflicting classifications of pathogenicity

Familial hemophagocytic lymphohistiocytosis 3
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

CA2573154841

rs_779684660

2 SubmittersRCV002191425 RCV002264479

NM_199242.3(UNC13D):c.2710-8C>G

SNV
Germline

Chr17:75830490

Conflicting classifications of pathogenicity

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Conflicting Classifications

CA8772407

rs_545824447

2 SubmittersRCV002100697

NM_199242.3(UNC13D):c.1612C>T (p.Gln538Ter)

SNV
Germline

Chr17:75835762

Pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Single Submitter

CA401096537

rs_1426054272

1 SubmittersRCV002251040

NM_199242.3(UNC13D):c.154-9G>A

SNV
Germline

Chr17:75843275

Conflicting classifications of pathogenicity

See cases
Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Conflicting Classifications

CA2510825745

rs_2064962405

2 SubmittersRCV002252382 RCV003497946

NM_199242.3(UNC13D):c.389-13C>T

SNV
Germline

Chr17:75842626

Conflicting classifications of pathogenicity

See cases
Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Conflicting Classifications

CA627596588

rs_1376263454

2 SubmittersRCV002252383 RCV003094137

NM_199242.3(UNC13D):c.1857C>T (p.Pro619=)

SNV
Germline

Chr17:75835055

Conflicting classifications of pathogenicity

Autoinflammatory syndrome
Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Conflicting Classifications

CA501844531

rs_2143877155

2 SubmittersRCV002264551 RCV003603117

NM_199242.3(UNC13D):c.2259C>A (p.Gly753=)

SNV
Germline

Chr17:75834364

Conflicting classifications of pathogenicity

Autoinflammatory syndrome
Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Conflicting Classifications

CA502049719

rs_1354115593

2 SubmittersRCV002264554 RCV003774810

NM_199242.3(UNC13D):c.2370C>T (p.Ala790=)

SNV
Germline

Chr17:75833043

Conflicting classifications of pathogenicity

Autoinflammatory syndrome
Familial hemophagocytic lymphohistiocytosis 3
UNC13D-related disorder

Criteria Provided
Conflicting Classifications

CA8772566

rs_747428323

3 SubmittersRCV002264556 RCV003101475 RCV003903644

NM_199242.3(UNC13D):c.570-2A>T

SNV
Germline

Chr17:75841003

Pathogenic/Likely pathogenic

Autoinflammatory syndrome
Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Multiple Submitters
No Conflicts

CA401111896

rs_770325118

2 SubmittersRCV002264563 RCV003497947

NM_199242.3(UNC13D):c.3049G>A (p.Glu1017Lys)

SNV
Germline

Chr17:75828889

Conflicting classifications of pathogenicity

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Conflicting Classifications

CA8772294

rs_776737156

2 SubmittersRCV002283946

NM_199242.3(UNC13D):c.3053C>A (p.Ala1018Asp)

SNV
Germline

Chr17:75828885

Pathogenic/Likely pathogenic

Condition: not provided
Familial hemophagocytic lymphohistiocytosis 3
Familial hemophagocytic lymphohistiocytosis

Criteria Provided
Multiple Submitters
No Conflicts

CA8772291

rs_778829355

4 SubmittersRCV002508863 RCV002574720 RCV005058883

NM_199242.3(UNC13D):c.570-2A>G

SNV
Germline

Chr17:75841003

Likely pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Single Submitter

CA8773408

rs_770325118

1 SubmittersRCV002592039

NM_199242.3(UNC13D):c.2447+2T>C

SNV
Germline

Chr17:75832964

Likely pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Multiple Submitters
No Conflicts

CA401084448

rs_1471901138

2 SubmittersRCV002632467

NM_199242.3(UNC13D):c.683+1G>A

SNV
Germline

Chr17:75840761

Likely pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Single Submitter

CA401111178

rs_2545985776

1 SubmittersRCV002585605

NM_199242.3(UNC13D):c.1637A>G (p.Asp546Gly)

SNV
Germline

Chr17:75835737

Conflicting classifications of pathogenicity

Inborn genetic diseases
Familial hemophagocytic lymphohistiocytosis 3
not specified

Criteria Provided
Conflicting Classifications

CA294086816

rs_893119657

3 SubmittersRCV002603366 RCV002615825 RCV003988058

NM_199242.3(UNC13D):c.2434G>T (p.Glu812Ter)

SNV
Germline

Chr17:75832979

Pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Single Submitter

CA401084632

rs_2545978868

1 SubmittersRCV002871978

NM_199242.3(UNC13D):c.321+2T>G

SNV
Germline

Chr17:75843012

Likely pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Single Submitter

CA401115749

rs_2545987854

1 SubmittersRCV003037544

NM_199242.3(UNC13D):c.2704C>T (p.Gln902Ter)

SNV
Germline

Chr17:75830583

Pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Single Submitter

CA401080519

rs_2545977102

1 SubmittersRCV003052402

NM_199242.3(UNC13D):c.151C>T (p.Gln51Ter)

SNV
Germline

Chr17:75843486

Pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Single Submitter

CA401117994

rs_2545988497

1 SubmittersRCV003498095

NM_199242.3(UNC13D):c.952-2A>G

SNV
Germline

Chr17:75839944

Likely pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Single Submitter

CA401106972

rs_1252952514

1 SubmittersRCV003498952

NM_199242.3(UNC13D):c.2709+1G>T

SNV
Germline

Chr17:75830577

Pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Single Submitter

CA401080495

rs_1555600214

1 SubmittersRCV003498931

NM_199242.3(UNC13D):c.1045C>T (p.Gln349Ter)

SNV
Germline

Chr17:75839849

Pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Single Submitter

CA401105896

rs_2545984867

1 SubmittersRCV003499130

NM_199242.3(UNC13D):c.3193C>T (p.Arg1065Ter)

SNV
Germline

Chr17:75828045

Pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Multiple Submitters
No Conflicts

CA8772230

rs_774921373

2 SubmittersRCV003497338

NM_199242.3(UNC13D):c.2296C>T (p.Gln766Ter)

SNV
Germline

Chr17:75834327

Pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Single Submitter

CA294086316

rs_375472517

1 SubmittersRCV003497340

NM_199242.3(UNC13D):c.1848+1G>C

SNV
Germline

Chr17:75835408

Likely pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Single Submitter

CA401092032

rs_2545981250

1 SubmittersRCV003497341

NM_199242.3(UNC13D):c.1825C>T (p.Gln609Ter)

SNV
Germline

Chr17:75835432

Pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Single Submitter

CA401092226

rs_2545981285

1 SubmittersRCV003497342

NM_199242.3(UNC13D):c.1387C>T (p.Gln463Ter)

SNV
Germline

Chr17:75836341

Pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Single Submitter

CA401099140

rs_2545982383

1 SubmittersRCV003497344

NM_199242.3(UNC13D):c.1241G>T (p.Arg414Leu)

SNV
Germline

Chr17:75836629

Pathogenic/Likely pathogenic

Familial hemophagocytic lymphohistiocytosis 3
Condition: not provided
Familial hemophagocytic lymphohistiocytosis

Criteria Provided
Multiple Submitters
No Conflicts

CA8773065

rs_768171054

3 SubmittersRCV003497345 RCV004719354 RCV005063026

NM_199242.3(UNC13D):c.1173+1G>A

SNV
Germline

Chr17:75836800

Likely pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Single Submitter

CA401101464

rs_2545982922

1 SubmittersRCV003498424

NM_199242.3(UNC13D):c.153+1G>A

SNV
Germline

Chr17:75843483

Likely pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Single Submitter

CA401117964

rs_1029026260

1 SubmittersRCV003603400

NM_199242.3(UNC13D):c.148G>T (p.Glu50Ter)

SNV
Germline

Chr17:75843489

Pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Single Submitter

CA401118030

rs_756652448

1 SubmittersRCV003604237

NM_199242.3(UNC13D):c.1763G>A (p.Trp588Ter)

SNV
Germline

Chr17:75835494

Pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Single Submitter

CA401092837

rs_2545981358

1 SubmittersRCV003604260

NM_199242.3(UNC13D):c.252C>A (p.Tyr84Ter)

SNV
Germline

Chr17:75843168

Pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Single Submitter

CA401116678

rs_2545988044

1 SubmittersRCV003604314

NM_199242.3(UNC13D):c.780G>A (p.Trp260Ter)

SNV
Germline

Chr17:75840303

Pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Single Submitter

CA8773276

rs_769371398

1 SubmittersRCV003604453

NM_199242.3(UNC13D):c.753+1G>A

SNV
Germline

Chr17:75840506

Pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Single Submitter

CA401109938

rs_201908137

1 SubmittersRCV003604830

NM_199242.3(UNC13D):c.154-1G>T

SNV
Germline

Chr17:75843267

Likely pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Single Submitter

CA401117800

rs_2545988159

1 SubmittersRCV003604973

NM_199242.3(UNC13D):c.1486C>T (p.Gln496Ter)

SNV
Germline

Chr17:75836070

Pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Single Submitter

CA401097821

rs_1462252996

1 SubmittersRCV003604769

NM_199242.3(UNC13D):c.1728-2A>C

SNV
Germline

Chr17:75835531

Likely pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Single Submitter

CA401093296

rs_1160623744

1 SubmittersRCV003604796

NM_199242.3(UNC13D):c.943C>T (p.Gln315Ter)

SNV
Germline

Chr17:75840026

Pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Single Submitter

CA401107209

rs_2545985023

1 SubmittersRCV003602601

NM_199242.3(UNC13D):c.1721C>G (p.Ser574Ter)

SNV
Germline

Chr17:75835653

Pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Multiple Submitters
No Conflicts

CA401093534

rs_981574088

2 SubmittersRCV003848326

NM_199242.3(UNC13D):c.262-1G>A

SNV
Germline

Chr17:75843074

Pathogenic/Likely pathogenic

Familial hemophagocytic lymphohistiocytosis 3
Familial hemophagocytic lymphohistiocytosis

Criteria Provided
Multiple Submitters
No Conflicts

CA401116391

rs_2064960622

2 SubmittersRCV003843030 RCV005240958

NM_199242.3(UNC13D):c.2625+1G>A

SNV
Germline

Chr17:75831097

Likely pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Single Submitter

CA401081028

rs_2545977596

1 SubmittersRCV003859742

NM_199242.3(UNC13D):c.1298+2T>C

SNV
Germline

Chr17:75836570

Likely pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Single Submitter

CA294087146

rs_1030766172

1 SubmittersRCV003875833

NM_199242.3(UNC13D):c.1848+1G>A

SNV
Germline

Chr17:75835408

Pathogenic/Likely pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Multiple Submitters
No Conflicts

CA401092035

rs_2545981250

2 SubmittersRCV003874877

NM_199242.3(UNC13D):c.3152-2A>C

SNV
Germline

Chr17:75828088

Likely pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Single Submitter

1 SubmittersRCV005022756

NM_199242.3(UNC13D):c.1193C>A (p.Ser398Ter)

SNV
Germline

Chr17:75836677

Likely pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Single Submitter

1 SubmittersRCV005022760

NM_199242.3(UNC13D):c.1177G>T (p.Glu393Ter)

SNV
Germline

Chr17:75836693

Likely pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Single Submitter

1 SubmittersRCV005026123

NM_199242.3(UNC13D):c.858+1G>A

SNV
Germline

Chr17:75840224

Likely pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Single Submitter

1 SubmittersRCV005026124

NM_199242.3(UNC13D):c.810C>A (p.Tyr270Ter)

SNV
Germline

Chr17:75840273

Pathogenic/Likely pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005026125

NM_199242.3(UNC13D):c.783C>G (p.Tyr261Ter)

SNV
Germline

Chr17:75840300

Likely pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Single Submitter

1 SubmittersRCV005026126

NM_199242.3(UNC13D):c.289C>T (p.Gln97Ter)

SNV
Germline

Chr17:75843046

Likely pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Single Submitter

1 SubmittersRCV005026127

NM_199242.3(UNC13D):c.118-2A>G

SNV
Germline

Chr17:75843521

Likely pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Single Submitter

1 SubmittersRCV005022762

NM_199242.3(UNC13D):c.117+1G>A

SNV
Germline

Chr17:75844220

Likely pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Single Submitter

1 SubmittersRCV005070214

NM_199242.3(UNC13D):c.2119C>T (p.Gln707Ter)

SNV
Germline

Chr17:75834504

Pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Single Submitter

1 SubmittersRCV005182037

NM_199242.3(UNC13D):c.2625+2T>C

SNV
Germline

Chr17:75831096

Likely pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Single Submitter

1 SubmittersRCV005255061

NM_199242.3(UNC13D):c.1544+1G>A

SNV
Germline

Chr17:75836011

Likely pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Single Submitter

1 SubmittersRCV005413317

NM_199242.3(UNC13D):c.2701C>T (p.Gln901Ter)

SNV
Germline

Chr17:75830586

Likely pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Single Submitter

1 SubmittersRCV005631704

NM_199242.3(UNC13D):c.2091+2T>G

SNV
Germline

Chr17:75834616

Likely pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Single Submitter

1 SubmittersRCV005884603

NM_199242.3(UNC13D):c.1597-1G>T

SNV
Germline

Chr17:75835778

Pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Single Submitter

1 SubmittersRCV005884614

NM_199242.3(UNC13D):c.2954+2T>C

SNV
Germline

Chr17:75830026

Pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Single Submitter

1 SubmittersRCV006252524

NM_199242.3(UNC13D):c.2955-2A>G

SNV
Germline

Chr17:75828985

Likely pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Single Submitter

1 SubmittersRCV006510153

NM_199242.3(UNC13D):c.2062C>T (p.Gln688Ter)

SNV
Germline

Chr17:75834647

Pathogenic

Familial hemophagocytic lymphohistiocytosis 3

Criteria Provided
Single Submitter

1 SubmittersRCV006529352