| - GRCh37:
- Chr17:73826454
- GRCh38:
- Chr17:75830373
| LOC112533672, UNC13D | L940fs | Familial hemophagocytic lymphohistiocytosis 3 | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr17:73827722-73835910
| UNC13D | | Familial hemophagocytic lymphohistiocytosis 3 | Pathogenic (Mar 2, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr17:73824916
- GRCh38:
- Chr17:75828835
| UNC13D | G1035S | Familial hemophagocytic lymphohistiocytosis 3 | Uncertain significance (May 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73832705
- GRCh38:
- Chr17:75836624
| UNC13D | V416I | Familial hemophagocytic lymphohistiocytosis 3 | Uncertain significance (Nov 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73838749
- GRCh38:
- Chr17:75842668
| UNC13D | | Familial hemophagocytic lymphohistiocytosis 3 | Uncertain significance (Feb 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73824046-73830244
| UNC13D | | Familial hemophagocytic lymphohistiocytosis 3 | Uncertain significance (Mar 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73831507
- GRCh38:
- Chr17:75835426
| UNC13D | A611T | Familial hemophagocytic lymphohistiocytosis 3 | Uncertain significance (Jul 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73832473
- GRCh38:
- Chr17:75836392
| UNC13D | E446K | Familial hemophagocytic lymphohistiocytosis 3 | Uncertain significance (Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73825000
- GRCh38:
- Chr17:75828919
| UNC13D | D1007N | Familial hemophagocytic lymphohistiocytosis 3 | Uncertain significance (Jun 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73826471
- GRCh38:
- Chr17:75830390
| UNC13D, LOC112533672 | | Familial hemophagocytic lymphohistiocytosis 3 | Likely benign (Sep 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73838530
- GRCh38:
- Chr17:75842449
| UNC13D | D185N | Familial hemophagocytic lymphohistiocytosis 3 | Uncertain significance (Dec 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73832752
- GRCh38:
- Chr17:75836671
| UNC13D | S400N | Familial hemophagocytic lymphohistiocytosis 3 | Uncertain significance (Jun 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73835923
- GRCh38:
- Chr17:75839842
| UNC13D | M351T | Familial hemophagocytic lymphohistiocytosis 3 | Uncertain significance (Jul 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73829102
- GRCh38:
- Chr17:75833021
| UNC13D | | Familial hemophagocytic lymphohistiocytosis 3 | Likely benign (Jul 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73839548
- GRCh38:
- Chr17:75843467
| UNC13D | | Familial hemophagocytic lymphohistiocytosis 3 | Likely benign (Aug 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73835967
- GRCh38:
- Chr17:75839886
| UNC13D | F336L | Familial hemophagocytic lymphohistiocytosis 3 | Uncertain significance (Sep 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73826642
- GRCh38:
- Chr17:75830561
| LOC112533672, UNC13D | | Familial hemophagocytic lymphohistiocytosis 3 | Likely benign (Jul 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73832313
- GRCh38:
- Chr17:75836232
| UNC13D | | Familial hemophagocytic lymphohistiocytosis 3 | Likely benign (Mar 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73831846
- GRCh38:
- Chr17:75835765
| UNC13D | V537M | Familial hemophagocytic lymphohistiocytosis 3 | Uncertain significance (Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73840388
- GRCh38:
- Chr17:75844307
| UNC13D | R11C | Familial hemophagocytic lymphohistiocytosis 3 | Uncertain significance (Jun 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73829045
- GRCh38:
- Chr17:75832964
| UNC13D | | Familial hemophagocytic lymphohistiocytosis 3 | Likely pathogenic (Oct 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73831818
- GRCh38:
- Chr17:75835737
| UNC13D | D546G | Inborn genetic diseases, Familial hemophagocytic lymphohistiocytosis 3 | Conflicting interpretations of pathogenicity (Dec 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:73840328
- GRCh38:
- Chr17:75844247
| UNC13D | D31N | Familial hemophagocytic lymphohistiocytosis 3 | Uncertain significance (Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73826639
- GRCh38:
- Chr17:75830558
| LOC112533672, UNC13D | | Familial hemophagocytic lymphohistiocytosis 3 | Likely benign (Feb 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73829141
- GRCh38:
- Chr17:75833060
| UNC13D | | Familial hemophagocytic lymphohistiocytosis 3 | Likely benign (Oct 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73837084
- GRCh38:
- Chr17:75841003
| UNC13D | | Familial hemophagocytic lymphohistiocytosis 3 | Likely pathogenic (Jun 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73836838
- GRCh38:
- Chr17:75840757
| UNC13D | | Familial hemophagocytic lymphohistiocytosis 3 | Uncertain significance (Jun 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73835951
- GRCh38:
- Chr17:75839870
| UNC13D | K342E | Familial hemophagocytic lymphohistiocytosis 3, UNC13D-related condition | Uncertain significance (Sep 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:73832000
- GRCh38:
- Chr17:75835919
| UNC13D | | Familial hemophagocytic lymphohistiocytosis 3 | Likely benign (Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73836842
- GRCh38:
- Chr17:75840761
| UNC13D | | Familial hemophagocytic lymphohistiocytosis 3 | Likely pathogenic (Apr 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73839146
- GRCh38:
- Chr17:75843065
| UNC13D | | Familial hemophagocytic lymphohistiocytosis 3 | Likely benign (Aug 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73840302
- GRCh38:
- Chr17:75844221
| UNC13D | | Familial hemophagocytic lymphohistiocytosis 3 | Uncertain significance (Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73830514
- GRCh38:
- Chr17:75834433
| UNC13D | | Familial hemophagocytic lymphohistiocytosis 3 | Likely benign (Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73839021
- GRCh38:
- Chr17:75842940
| UNC13D | | Familial hemophagocytic lymphohistiocytosis 3 | Likely benign (Jul 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73826246
- GRCh38:
- Chr17:75830165
| LOC112533672, UNC13D | | Familial hemophagocytic lymphohistiocytosis 3 | Likely benign (Sep 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73824065
- GRCh38:
- Chr17:75827984
| UNC13D | A1085D | Familial hemophagocytic lymphohistiocytosis 3 | Uncertain significance (Mar 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73836660
- GRCh38:
- Chr17:75840579
| UNC13D | | Familial hemophagocytic lymphohistiocytosis 3 | Uncertain significance (Mar 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73832476
- GRCh38:
- Chr17:75836395
| UNC13D | G445R | Familial hemophagocytic lymphohistiocytosis 3 | Uncertain significance (Apr 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73840351
- GRCh38:
- Chr17:75844270
| UNC13D | R23L | Familial hemophagocytic lymphohistiocytosis 3 | Uncertain significance (Feb 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73830439-73830440
- GRCh38:
- Chr17:75834358-75834359
| UNC13D | E755fs | Familial hemophagocytic lymphohistiocytosis 3 | Pathogenic (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73830437
- GRCh38:
- Chr17:75834356
| UNC13D | I756fs | Familial hemophagocytic lymphohistiocytosis 3 | Pathogenic (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73827260
- GRCh38:
- Chr17:75831179
| UNC13D | | Familial hemophagocytic lymphohistiocytosis 3 | Uncertain significance (Apr 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73832456
- GRCh38:
- Chr17:75836375
| UNC13D | | Familial hemophagocytic lymphohistiocytosis 3 | Likely benign (May 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73827268
- GRCh38:
- Chr17:75831187
| UNC13D | | Familial hemophagocytic lymphohistiocytosis 3 | Likely benign (Jul 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73839139
- GRCh38:
- Chr17:75843058
| UNC13D | P93T | Familial hemophagocytic lymphohistiocytosis 3 | Uncertain significance (Jul 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73826642
- GRCh38:
- Chr17:75830561
| LOC112533672, UNC13D | | Familial hemophagocytic lymphohistiocytosis 3 | Likely benign (Sep 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73825006
- GRCh38:
- Chr17:75828925
| UNC13D | D1005N | Familial hemophagocytic lymphohistiocytosis 3 | Uncertain significance (Jul 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73832519
- GRCh38:
- Chr17:75836438
| UNC13D | | Familial hemophagocytic lymphohistiocytosis 3 | Likely benign (Mar 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73832918
- GRCh38:
- Chr17:75836837
| UNC13D | | Familial hemophagocytic lymphohistiocytosis 3 | Likely benign (Jul 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73835924
- GRCh38:
- Chr17:75839843
| UNC13D | M351V | Familial hemophagocytic lymphohistiocytosis 3 | Uncertain significance (May 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73824870
- GRCh38:
- Chr17:75828789
| UNC13D | N1050S | Inborn genetic diseases, Familial hemophagocytic lymphohistiocytosis 3 | Uncertain significance (Jul 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:73838582
- GRCh38:
- Chr17:75842501
| UNC13D | | Familial hemophagocytic lymphohistiocytosis 3 | Likely benign (Aug 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73838523
- GRCh38:
- Chr17:75842442
| UNC13D | T187N | Familial hemophagocytic lymphohistiocytosis 3 | Uncertain significance (Aug 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73836403
- GRCh38:
- Chr17:75840322
| UNC13D | R254H | Familial hemophagocytic lymphohistiocytosis 3 | Uncertain significance (Apr 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73831510
- GRCh38:
- Chr17:75835429
| UNC13D | R610C | Familial hemophagocytic lymphohistiocytosis 3 | Uncertain significance (Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73824125
- GRCh38:
- Chr17:75828044
| UNC13D | R1065Q | Familial hemophagocytic lymphohistiocytosis 3 | Uncertain significance (Jun 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73832780
- GRCh38:
- Chr17:75836699
| UNC13D | | Familial hemophagocytic lymphohistiocytosis 3 | Uncertain significance (Jun 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73832653
- GRCh38:
- Chr17:75836572
| UNC13D | R433K | Familial hemophagocytic lymphohistiocytosis 3 | Uncertain significance (Jun 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73830215
- GRCh38:
- Chr17:75834134
| UNC13D | G770S | Familial hemophagocytic lymphohistiocytosis 3 | Uncertain significance (Aug 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73838921
- GRCh38:
- Chr17:75842840
| UNC13D | | Familial hemophagocytic lymphohistiocytosis 3 | Likely benign (Aug 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73825007
- GRCh38:
- Chr17:75828926
| UNC13D | | Familial hemophagocytic lymphohistiocytosis 3 | Uncertain significance (Dec 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73839358
- GRCh38:
- Chr17:75843277
| UNC13D | | Familial hemophagocytic lymphohistiocytosis 3 | Likely benign (Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73826221
- GRCh38:
- Chr17:75830140
| LOC112533672, UNC13D | P948S | Familial hemophagocytic lymphohistiocytosis 3 | Uncertain significance (Oct 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73838642
- GRCh38:
- Chr17:75842561
| UNC13D | G149fs | Familial hemophagocytic lymphohistiocytosis 3 | Pathogenic (Jul 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73836899
- GRCh38:
- Chr17:75840818
| UNC13D | V210fs | Familial hemophagocytic lymphohistiocytosis 3 | Pathogenic (Sep 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73836407-73836408
- GRCh38:
- Chr17:75840326-75840327
| UNC13D | L253fs | Familial hemophagocytic lymphohistiocytosis 3 | Pathogenic (Mar 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73832421
- GRCh38:
- Chr17:75836340
| UNC13D | Q463P | Familial hemophagocytic lymphohistiocytosis 3 | Uncertain significance (Sep 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73830464
- GRCh38:
- Chr17:75834383
| UNC13D | S747N | Familial hemophagocytic lymphohistiocytosis 3 | Uncertain significance (Aug 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73839016
- GRCh38:
- Chr17:75842935
| UNC13D | | Familial hemophagocytic lymphohistiocytosis 3 | Likely benign (May 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73830727
- GRCh38:
- Chr17:75834646
| UNC13D | Q688P | Familial hemophagocytic lymphohistiocytosis 3 | Uncertain significance (Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73824127
- GRCh38:
- Chr17:75828046
| UNC13D | D1064E | Familial hemophagocytic lymphohistiocytosis 3 | Uncertain significance (May 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73839323
- GRCh38:
- Chr17:75843242
| UNC13D | L60F | Familial hemophagocytic lymphohistiocytosis 3 | Uncertain significance (May 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73826664
- GRCh38:
- Chr17:75830583
| LOC112533672, UNC13D | Q902* | Familial hemophagocytic lymphohistiocytosis 3 | Pathogenic (May 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73840308
- GRCh38:
- Chr17:75844227
| UNC13D | | Familial hemophagocytic lymphohistiocytosis 3 | Likely benign (May 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73831012
- GRCh38:
- Chr17:75834931
| UNC13D | K661Q | Familial hemophagocytic lymphohistiocytosis 3 | Uncertain significance (May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73838592
- GRCh38:
- Chr17:75842511
| UNC13D | T164I | Familial hemophagocytic lymphohistiocytosis 3 | Uncertain significance (Apr 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73837075
- GRCh38:
- Chr17:75840994
| UNC13D | E193K | Familial hemophagocytic lymphohistiocytosis 3 | Uncertain significance (Apr 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73836911
- GRCh38:
- Chr17:75840830
| UNC13D | W205C | Familial hemophagocytic lymphohistiocytosis 3 | Uncertain significance (Apr 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73829081
- GRCh38:
- Chr17:75833000
| UNC13D | M805V | Familial hemophagocytic lymphohistiocytosis 3 | Uncertain significance (Apr 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73832348
- GRCh38:
- Chr17:75836267
| UNC13D | | Familial hemophagocytic lymphohistiocytosis 3 | Likely benign (Apr 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73832668
- GRCh38:
- Chr17:75836587
| UNC13D | L428R | Familial hemophagocytic lymphohistiocytosis 3 | Uncertain significance (Mar 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73829056
- GRCh38:
- Chr17:75832975
| UNC13D | N813I | Familial hemophagocytic lymphohistiocytosis 3 | Uncertain significance (Mar 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73839128
- GRCh38:
- Chr17:75843047
| UNC13D | H96Q | Familial hemophagocytic lymphohistiocytosis 3 | Uncertain significance (Mar 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73836144
- GRCh38:
- Chr17:75840063
| UNC13D | | Familial hemophagocytic lymphohistiocytosis 3 | Likely benign (Mar 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73827355
- GRCh38:
- Chr17:75831274
| UNC13D | L841P | Familial hemophagocytic lymphohistiocytosis 3 | Uncertain significance (Mar 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73839120
- GRCh38:
- Chr17:75843039
| UNC13D | T99I | Familial hemophagocytic lymphohistiocytosis 3 | Uncertain significance (May 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73830543
- GRCh38:
- Chr17:75834462
| UNC13D | W721R | Familial hemophagocytic lymphohistiocytosis 3 | Uncertain significance (Mar 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73832267
- GRCh38:
- Chr17:75836186
| UNC13D | | Familial hemophagocytic lymphohistiocytosis 3 | Likely benign (Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73830596
- GRCh38:
- Chr17:75834515
| UNC13D | N703S | Familial hemophagocytic lymphohistiocytosis 3 | Uncertain significance (Mar 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73838926
- GRCh38:
- Chr17:75842845
| UNC13D | | Familial hemophagocytic lymphohistiocytosis 3 | Likely benign (Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73831034-73831040
- GRCh38:
- Chr17:75834953-75834959
| UNC13D | D651fs | Familial hemophagocytic lymphohistiocytosis 3 | Pathogenic (Feb 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73839093
- GRCh38:
- Chr17:75843012
| UNC13D | | Familial hemophagocytic lymphohistiocytosis 3 | Likely pathogenic (Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73829144-73829145
- GRCh38:
- Chr17:75833063-75833064
| UNC13D | | Familial hemophagocytic lymphohistiocytosis 3 | Likely benign (Feb 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73827227
- GRCh38:
- Chr17:75831146
| UNC13D | | Familial hemophagocytic lymphohistiocytosis 3 | Likely benign (Feb 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73831787
- GRCh38:
- Chr17:75835706
| UNC13D | | Familial hemophagocytic lymphohistiocytosis 3 | Likely benign (Feb 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73831875
- GRCh38:
- Chr17:75835794
| UNC13D | | Familial hemophagocytic lymphohistiocytosis 3 | Likely benign (Sep 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73832686
- GRCh38:
- Chr17:75836605
| UNC13D | S422L | Familial hemophagocytic lymphohistiocytosis 3 | Uncertain significance (Jul 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73838579
- GRCh38:
- Chr17:75842498
| UNC13D | | Familial hemophagocytic lymphohistiocytosis 3 | Likely benign (Feb 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73840283
- GRCh38:
- Chr17:75844202
| UNC13D | | Familial hemophagocytic lymphohistiocytosis 3 | Uncertain significance (May 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:73836895
- GRCh38:
- Chr17:75840814
| UNC13D | E211K | Familial hemophagocytic lymphohistiocytosis 3 | Uncertain significance (Jul 12, 2022) | criteria provided, single submitter |