| - GRCh37:
- Chr12:6439205
- GRCh38:
- Chr12:6330039
| TNFRSF1A | P113T, P158T, P266T | TNF receptor-associated periodic fever syndrome (TRAPS) | Uncertain significance (Jan 12, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr12:6443338
- GRCh38:
- Chr12:6334172
| TNFRSF1A | E38Q | TNF receptor-associated periodic fever syndrome (TRAPS) | Uncertain significance (Mar 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6443372
- GRCh38:
- Chr12:6334206
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (Jun 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6439058
- GRCh38:
- Chr12:6329892
| TNFRSF1A | A162T, A207T, A315T | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (Oct 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6443012
- GRCh38:
- Chr12:6333846
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (Jan 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6438655
- GRCh38:
- Chr12:6329489
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6438706
- GRCh38:
- Chr12:6329540
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (Mar 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6438686
- GRCh38:
- Chr12:6329520
| TNFRSF1A | R234Q, R279Q, R387Q | TNF receptor-associated periodic fever syndrome (TRAPS) | Uncertain significance (Jul 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6438930
- GRCh38:
- Chr12:6329764
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (Mar 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6443237
- GRCh38:
- Chr12:6334071
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (Jul 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6442640
- GRCh38:
- Chr12:6333474
| TNFRSF1A | D122G, D14G | TNF receptor-associated periodic fever syndrome (TRAPS) | Uncertain significance (May 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6439097-6439098
- GRCh38:
- Chr12:6329931-6329932
| TNFRSF1A | G149fs, G194fs, G302fs | TNF receptor-associated periodic fever syndrome (TRAPS) | Uncertain significance (Jun 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6443402
- GRCh38:
- Chr12:6334236
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Uncertain significance (Jun 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6443429
- GRCh38:
- Chr12:6334263
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (Apr 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6439136
- GRCh38:
- Chr12:6329970
| TNFRSF1A | P136S, P181S, P289S | TNF receptor-associated periodic fever syndrome (TRAPS) | Uncertain significance (Jul 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6442668
- GRCh38:
- Chr12:6333502
| TNFRSF1A | E113K, E5K | TNF receptor-associated periodic fever syndrome (TRAPS) | Uncertain significance (Mar 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6443325
- GRCh38:
- Chr12:6334159
| TNFRSF1A | S42T | TNF receptor-associated periodic fever syndrome (TRAPS) | Uncertain significance (Oct 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6440108
- GRCh38:
- Chr12:6330942
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6439167
- GRCh38:
- Chr12:6330001
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (Jun 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6438649
- GRCh38:
- Chr12:6329483
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (Feb 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6440069
- GRCh38:
- Chr12:6330903
| TNFRSF1A | T192M, T84M, T39M | TNF receptor-associated periodic fever syndrome (TRAPS) | Uncertain significance (Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6442906
- GRCh38:
- Chr12:6333740
| TNFRSF1A | K107Q | TNF receptor-associated periodic fever syndrome (TRAPS) | Uncertain significance (Nov 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6442888
- GRCh38:
- Chr12:6333722
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (Dec 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6439790
- GRCh38:
- Chr12:6330624
| TNFRSF1A | R238Q, R85Q, R130Q | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (Jul 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6443423
- GRCh38:
- Chr12:6334257
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (Dec 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6440009
- GRCh38:
- Chr12:6330843
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (Jun 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6440024-6440035
- GRCh38:
- Chr12:6330858-6330869
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Uncertain significance (Oct 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6439819
- GRCh38:
- Chr12:6330653
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6439241
- GRCh38:
- Chr12:6330075
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (Aug 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6439480
- GRCh38:
- Chr12:6330314
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (Aug 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6439754
- GRCh38:
- Chr12:6330588
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (Jul 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6438503
- GRCh38:
- Chr12:6329337
| TNFRSF1A | P448R, P295R, P340R | TNF receptor-associated periodic fever syndrome (TRAPS) | Uncertain significance (Jul 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6438720
- GRCh38:
- Chr12:6329554
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (May 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6438624
- GRCh38:
- Chr12:6329458
| TNFRSF1A | R300G, R408G, R255G | TNF receptor-associated periodic fever syndrome (TRAPS) | Uncertain significance (May 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6438676
- GRCh38:
- Chr12:6329510
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (May 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6443348
- GRCh38:
- Chr12:6334182
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (May 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6443256
- GRCh38:
- Chr12:6334090
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Uncertain significance (May 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6439142
- GRCh38:
- Chr12:6329976
| TNFRSF1A | P179A, P287A, P134A | TNF receptor-associated periodic fever syndrome (TRAPS) | Uncertain significance (Sep 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6442320
- GRCh38:
- Chr12:6333154
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6440030
- GRCh38:
- Chr12:6330864
| TNFRSF1A | T205N, T52N, T97N | TNF receptor-associated periodic fever syndrome (TRAPS) | Uncertain significance (Jul 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6439895
- GRCh38:
- Chr12:6330729
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (Oct 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6443039
- GRCh38:
- Chr12:6333873
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (Apr 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6439864
- GRCh38:
- Chr12:6330698
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (Oct 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6442592
- GRCh38:
- Chr12:6333426
| TNFRSF1A | E138G, E30G | TNF receptor-associated periodic fever syndrome (TRAPS) | Uncertain significance (Jan 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6442229
- GRCh38:
- Chr12:6333063
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Uncertain significance (Jul 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6442685
- GRCh38:
- Chr12:6333519
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Uncertain significance (May 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6439103
- GRCh38:
- Chr12:6329937
| TNFRSF1A | T147A, T300A, T192A | TNF receptor-associated periodic fever syndrome (TRAPS) | Uncertain significance (Dec 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6442619
- GRCh38:
- Chr12:6333453
| TNFRSF1A | K129R, K21R | TNF receptor-associated periodic fever syndrome (TRAPS) | Uncertain significance (Mar 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6442547
- GRCh38:
- Chr12:6333381
| TNFRSF1A | T153I, T45I | TNF receptor-associated periodic fever syndrome (TRAPS) | Uncertain significance (Mar 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6439158
- GRCh38:
- Chr12:6329992
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (Oct 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6443300
- GRCh38:
- Chr12:6334134
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (Sep 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6439072
- GRCh38:
- Chr12:6329906
| TNFRSF1A | P202L, P157L, P310L | TNF receptor-associated periodic fever syndrome (TRAPS) | Uncertain significance (Jun 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6450972
- GRCh38:
- Chr12:6341806
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (May 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6442526
- GRCh38:
- Chr12:6333360
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (Aug 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6442656
- GRCh38:
- Chr12:6333490
| TNFRSF1A | C117G, C9G | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely pathogenic (Apr 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6438805
- GRCh38:
- Chr12:6329639
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (Apr 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6439438
- GRCh38:
- Chr12:6330272
| TNFRSF1A | K102E, K255E, K147E | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (Apr 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6438992
- GRCh38:
- Chr12:6329826
| TNFRSF1A | P184A, P229A, P337A | TNF receptor-associated periodic fever syndrome (TRAPS) | Uncertain significance (Sep 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6438611
- GRCh38:
- Chr12:6329445
| TNFRSF1A | P259L, P304L, P412L | TNF receptor-associated periodic fever syndrome (TRAPS) | Uncertain significance (Aug 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6442982
- GRCh38:
- Chr12:6333816
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS), not provided | Likely benign (Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:6450950
- GRCh38:
- Chr12:6341784
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (Jun 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6442699
- GRCh38:
- Chr12:6333533
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (Jun 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6438996
- GRCh38:
- Chr12:6329830
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (Jul 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6439477
- GRCh38:
- Chr12:6330311
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (Aug 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6442330
- GRCh38:
- Chr12:6333164
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6438763
- GRCh38:
- Chr12:6329597
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (Dec 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6439807
- GRCh38:
- Chr12:6330641
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6439008
- GRCh38:
- Chr12:6329842
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (Mar 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6443396
- GRCh38:
- Chr12:6334230
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (Oct 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6442237
- GRCh38:
- Chr12:6333071
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (Sep 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6443429
- GRCh38:
- Chr12:6334263
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (Sep 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6439217
- GRCh38:
- Chr12:6330051
| TNFRSF1A | T109A, T154A, T262A | Autoinflammatory syndrome, TNF receptor-associated periodic fever syndrome (TRAPS) | Conflicting interpretations of pathogenicity (Jul 2, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:6442907
- GRCh38:
- Chr12:6333741
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6439873
- GRCh38:
- Chr12:6330707
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (Jun 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6443399
- GRCh38:
- Chr12:6334233
| TNFRSF1A | | Autoinflammatory syndrome, TNF receptor-associated periodic fever syndrome (TRAPS) | Conflicting interpretations of pathogenicity (Aug 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:6438804
- GRCh38:
- Chr12:6329638
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Benign (Nov 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6438483
- GRCh38:
- Chr12:6329317
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (Jun 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6438966
- GRCh38:
- Chr12:6329800
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (Jul 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6442217
- GRCh38:
- Chr12:6333051
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6440106
- GRCh38:
- Chr12:6330940
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (May 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6439244
- GRCh38:
- Chr12:6330078
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6438502
- GRCh38:
- Chr12:6329336
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (May 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6440104
- GRCh38:
- Chr12:6330938
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (Feb 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6438926
- GRCh38:
- Chr12:6329760
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (Aug 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6450969
- GRCh38:
- Chr12:6341803
| TNFRSF1A | | Autoinflammatory syndrome, TNF receptor-associated periodic fever syndrome (TRAPS) | Conflicting interpretations of pathogenicity (Aug 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:6439230
- GRCh38:
- Chr12:6330064
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (Sep 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6443248
- GRCh38:
- Chr12:6334082
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (Sep 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6438502
- GRCh38:
- Chr12:6329336
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (May 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6438526
- GRCh38:
- Chr12:6329360
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6442543
- GRCh38:
- Chr12:6333377
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (Apr 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6439857
- GRCh38:
- Chr12:6330691
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (Aug 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6438793
- GRCh38:
- Chr12:6329627
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (Jun 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6439243
- GRCh38:
- Chr12:6330077
| TNFRSF1A | | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (May 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6442661
- GRCh38:
- Chr12:6333495
| TNFRSF1A | S115F, S7F | TNF receptor-associated periodic fever syndrome (TRAPS) | Uncertain significance (Feb 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6438524
- GRCh38:
- Chr12:6329358
| TNFRSF1A | L441H, L333H, L288H | TNF receptor-associated periodic fever syndrome (TRAPS) | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6438599
- GRCh38:
- Chr12:6329433
| TNFRSF1A | A416V, A263V, A308V | TNF receptor-associated periodic fever syndrome (TRAPS) | Uncertain significance (Jan 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6439205
- GRCh38:
- Chr12:6330039
| TNFRSF1A | P266S, P158S, P113S | TNF receptor-associated periodic fever syndrome (TRAPS) | Uncertain significance (Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6443283
- GRCh38:
- Chr12:6334117
| TNFRSF1A | S56L | TNF receptor-associated periodic fever syndrome (TRAPS) | Uncertain significance (Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6443278
- GRCh38:
- Chr12:6334112
| TNFRSF1A | C58G | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely pathogenic (Oct 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:6438964
- GRCh38:
- Chr12:6329798
| TNFRSF1A | H238R, H346R, H193R | TNF receptor-associated periodic fever syndrome (TRAPS) | Likely benign (Aug 16, 2022) | criteria provided, single submitter |