Total 261 pathogenic variants reported for Familial hemophagocytic lymphohistiocytosis 3 
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 SubmittersRCV000002076RCV000380656RCV002262537RCV005887201

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 SubmittersRCV000002077RCV000760447RCV002262538RCV004745140

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 SubmittersRCV000002078RCV000288588RCV006268065

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 SubmittersRCV000002079RCV005430913

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 SubmittersRCV000490335RCV002262801RCV002509306RCV005645043

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 SubmittersRCV000249783RCV000490433RCV000879455RCV002262802

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 SubmittersRCV000224157RCV001219590RCV003422127RCV004020718

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 SubmittersRCV000251612RCV000298155RCV003884439

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 SubmittersRCV000242082RCV000542743RCV001753732RCV002262916

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 SubmittersRCV000252059RCV000547857RCV002262912RCV005639100

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 SubmittersRCV000640121RCV002262919RCV003891999RCV004808659

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 SubmittersRCV000640120RCV002262914RCV003891998RCV004808658

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 SubmittersRCV000768127RCV002263030RCV001820977

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 SubmittersRCV000640115RCV002263023

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 SubmittersRCV000902495RCV006441884

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 SubmittersRCV000904103RCV001820978

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 SubmittersRCV000315493RCV002263032RCV004709747

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 SubmittersRCV000972185RCV001702001RCV003940289

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 SubmittersRCV000734023RCV001083279RCV002265731RCV002263025

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 SubmittersRCV000355372RCV003401341RCV002263026RCV005894672

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 SubmittersRCV000323586RCV001702002RCV002263024

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 SubmittersRCV000274690RCV004701413

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 SubmittersRCV000414378RCV001861424

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 SubmittersRCV000422858RCV000544050RCV001086175RCV002261085RCV003970151

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 SubmittersRCV000455177RCV000548831RCV001703174RCV002263693RCV003912793RCV005625608

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 SubmittersRCV000514775RCV001778988RCV003497856

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 SubmittersRCV000762002RCV001081750RCV001821540RCV002263768RCV004745455

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 SubmittersRCV000762001RCV001081751RCV002263769RCV001821541RCV004745456

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 SubmittersRCV000640097RCV002222570RCV001771866

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 SubmittersRCV000640100RCV001788308RCV002265832

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 SubmittersRCV000640110RCV005621989

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 SubmittersRCV000640122RCV001573699RCV003928084

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 SubmittersRCV000640099RCV001815423RCV002282277

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 SubmittersRCV000696923RCV001572457

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 SubmittersRCV000706895RCV005626170

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 SubmittersRCV000779232RCV001759472RCV002263971RCV002265885RCV004745585

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 SubmittersRCV000778518RCV002263969RCV006459900

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 SubmittersRCV000822959RCV002298791

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 SubmittersRCV000974710RCV002264122RCV004710228

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 SubmittersRCV000879454RCV002264042RCV005907296

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 SubmittersRCV000892592RCV002264053RCV001818675RCV003968148

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 SubmittersRCV000894710RCV001818699RCV002264063RCV003920825

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 SubmittersRCV001520228RCV002264059

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 SubmittersRCV001459099RCV004704304

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 SubmittersRCV000895207RCV002264064

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 SubmittersRCV000918232RCV002264091

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 SubmittersRCV001495819RCV002264099

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 SubmittersRCV000937697RCV001088459RCV003895700

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 SubmittersRCV000935303RCV003413738RCV003913165RCV005903190

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 SubmittersRCV000986191RCV002549658

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 SubmittersRCV000986193RCV001728095

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 SubmittersRCV001042266RCV004792656RCV006387104

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 SubmittersRCV001051337RCV002553737RCV006279322

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 SubmittersRCV001039252RCV004678898

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 SubmittersRCV001053702RCV005438053

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 SubmittersRCV001126670RCV004590102

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 SubmittersRCV001124102RCV005865461

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 SubmittersRCV001215391RCV002252331

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 SubmittersRCV001210685RCV002275318

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 SubmittersRCV001310042RCV002264261RCV004526107

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 SubmittersRCV001373712RCV001762653RCV005772177

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 SubmittersRCV001383010RCV002264288RCV005912632RCV005912633

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 SubmittersRCV001417539RCV002264307

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 SubmittersRCV001432424RCV002264316RCV003151315

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 SubmittersRCV001469516RCV002264338

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 SubmittersRCV001488590RCV002264349RCV006443953

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 SubmittersRCV001797960RCV001868903RCV002222265

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 SubmittersRCV001808212RCV004720943

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 SubmittersRCV001920466RCV002264425

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 SubmittersRCV001990613RCV004746549

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 SubmittersRCV001942001RCV002264436RCV004809714

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 SubmittersRCV002021777RCV002469449

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 SubmittersRCV002191425RCV002264479

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 SubmittersRCV002252382RCV003497946

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 SubmittersRCV002252383RCV003094137

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 SubmittersRCV002264551RCV003603117

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 SubmittersRCV002264554RCV003774810

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 SubmittersRCV002264556RCV003101475RCV003903644

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 SubmittersRCV002264563RCV003497947

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 SubmittersRCV002508863RCV002574720RCV005058883

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 SubmittersRCV002603366RCV002615825RCV003988058

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 SubmittersRCV003497345RCV004719354RCV005063026

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 SubmittersRCV003843030RCV005240958

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