| - GRCh38:
- Chr2:112924872-113105404
| IL1F10, IL1RN, IL36A, IL36B, IL36G, IL36RN, LOC112806039, LOC122817730, LOC126806315, LOC129934600, LOC129934601, LOC129934602, LOC129934603 | | Endometriosis | Uncertain significance
(Oct 20, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr2:113682449-113862981
- GRCh38:
- Chr2:112924872-113105404
| IL1F10, IL1RN, IL36A, IL36B, IL36G, IL36RN, LOC112806039, LOC122817730, LOC126806315, LOC129934600, LOC129934601, LOC129934602, LOC129934603 | | See cases | Uncertain significance
(Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113875217
- GRCh38:
- Chr2:113117640
| IL1RN | | not provided | Benign
(Jun 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113875428
- GRCh38:
- Chr2:113117851
| IL1RN | | not provided | Benign
(May 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113875501
- GRCh38:
- Chr2:113117924
| IL1RN | | Autoinflammatory syndrome | Uncertain significance
(Jan 6, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113875509
- GRCh38:
- Chr2:113117932
| IL1RN | | not specified, not provided, Sterile multifocal osteomyelitis with periostitis and pustulosis
| Benign
(Nov 12, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:113875513
- GRCh38:
- Chr2:113117936
| IL1RN | | Sterile multifocal osteomyelitis with periostitis and pustulosis | Likely benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113875525
- GRCh38:
- Chr2:113117948
| IL1RN | | Sterile multifocal osteomyelitis with periostitis and pustulosis | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113875565
- GRCh38:
- Chr2:113117988
| IL1RN | | not specified, not provided, Sterile multifocal osteomyelitis with periostitis and pustulosis
| Benign
(Nov 12, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:113875584
- GRCh38:
- Chr2:113118007
| IL1RN | | not provided, not specified, Sterile multifocal osteomyelitis with periostitis and pustulosis
| Benign
(Nov 12, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:113875599
- GRCh38:
- Chr2:113118022
| IL1RN | A2S | Sterile multifocal osteomyelitis with periostitis and pustulosis | Uncertain significance
(Mar 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113875599
- GRCh38:
- Chr2:113118022
| IL1RN | A2T | Sterile multifocal osteomyelitis with periostitis and pustulosis | Uncertain significance
(Jan 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113875607
- GRCh38:
- Chr2:113118030
| IL1RN | | Autoinflammatory syndrome | Likely pathogenic
(Sep 17, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113875609
- GRCh38:
- Chr2:113118032
| IL1RN | | Sterile multifocal osteomyelitis with periostitis and pustulosis | Uncertain significance
(May 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113875616
- GRCh38:
- Chr2:113118039
| IL1RN | | Sterile multifocal osteomyelitis with periostitis and pustulosis | Likely benign
(Oct 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113875619
- GRCh38:
- Chr2:113118042
| IL1RN | | Sterile multifocal osteomyelitis with periostitis and pustulosis | Likely benign
(Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113875631
- GRCh38:
- Chr2:113118054
| IL1RN | | not specified, not provided | Benign
(Nov 12, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:113875753
- GRCh38:
- Chr2:113118176
| IL1RN | | not provided | Benign
(May 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113875773
- GRCh38:
- Chr2:113118196
| IL1RN | | not provided | Benign
(May 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113877413
- GRCh38:
- Chr2:113119836
| IL1RN | | not provided | Benign
(Jun 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113877495
- GRCh38:
- Chr2:113119918
| IL1RN | | not provided | Benign
(Nov 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113877538
- GRCh38:
- Chr2:113119961
| IL1RN | | not provided | Benign
(May 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113877627
- GRCh38:
- Chr2:113120050
| IL1RN | | Sterile multifocal osteomyelitis with periostitis and pustulosis | Likely benign
(Feb 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113877648
- GRCh38:
- Chr2:113120071
| IL1RN | L6V | Sterile multifocal osteomyelitis with periostitis and pustulosis | Uncertain significance
(Oct 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113877650
- GRCh38:
- Chr2:113120073
| IL1RN | L6F | Sterile multifocal osteomyelitis with periostitis and pustulosis | Uncertain significance
(Jul 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113877651
- GRCh38:
- Chr2:113120074
| IL1RN | Y7H | Autoinflammatory syndrome | Uncertain significance
(Jan 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113877652
- GRCh38:
- Chr2:113120075
| IL1RN | Y7C | Sterile multifocal osteomyelitis with periostitis and pustulosis | Uncertain significance
(Feb 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113877658
- GRCh38:
- Chr2:113120081
| IL1RN | E9V | Sterile multifocal osteomyelitis with periostitis and pustulosis | Uncertain significance
(Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113877660
- GRCh38:
- Chr2:113120083
| IL1RN | G10R | Sterile multifocal osteomyelitis with periostitis and pustulosis | Uncertain significance
(Jan 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113877676
- GRCh38:
- Chr2:113120099
| IL1RN | G15E | Autoinflammatory syndrome, Sterile multifocal osteomyelitis with periostitis and pustulosis | Uncertain significance
(Oct 25, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:113877680
- GRCh38:
- Chr2:113120103
| IL1RN | | Sterile multifocal osteomyelitis with periostitis and pustulosis | Likely benign
(Oct 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113877690
- GRCh38:
- Chr2:113120113
| IL1RN | N20H | Sterile multifocal osteomyelitis with periostitis and pustulosis | Uncertain significance
(Apr 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113877698
- GRCh38:
- Chr2:113120121
| IL1RN | | Autoinflammatory syndrome, Sterile multifocal osteomyelitis with periostitis and pustulosis | Conflicting interpretations of pathogenicity
(Feb 16, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:113877713
- GRCh38:
- Chr2:113120136
| IL1RN | | not specified, Sterile multifocal osteomyelitis with periostitis and pustulosis, not provided
| Benign
(Nov 12, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:113877715
- GRCh38:
- Chr2:113120138
| IL1RN | | Sterile multifocal osteomyelitis with periostitis and pustulosis | Likely benign
(Sep 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113877724
- GRCh38:
- Chr2:113120147
| IL1RN | | Sterile multifocal osteomyelitis with periostitis and pustulosis | Benign
(Oct 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113885138-113891610
- GRCh38:
- Chr2:113127561-113134033
| IL1RN | | not provided | not provided | no assertion provided |
| - GRCh37:
- Chr2:113885224
- GRCh38:
- Chr2:113127647
| IL1RN | R8H | not provided | Likely benign
(Jun 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113885263
- GRCh38:
- Chr2:113127686
| IL1RN | S21* | not provided | Likely pathogenic
(Apr 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113885264
- GRCh38:
- Chr2:113127687
| IL1RN | | Sterile multifocal osteomyelitis with periostitis and pustulosis | Uncertain significance
(Jul 20, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113885269
- GRCh38:
- Chr2:113127692
| IL1RN | T23M, T26M, T5M | Sterile multifocal osteomyelitis with periostitis and pustulosis, Sterile multifocal osteomyelitis with periostitis and pustulosis, Stomach cancer,
Microvascular complications of diabetes, susceptibility to, 4 | Uncertain significance
(Jul 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:113885270
- GRCh38:
- Chr2:113127693
| IL1RN | | Autoinflammatory syndrome, Inborn genetic diseases, Sterile multifocal osteomyelitis with periostitis and pustulosis,
Microvascular complications of diabetes, susceptibility to, 4, Sterile multifocal osteomyelitis with periostitis and pustulosis, Stomach cancer,
not provided | Benign/Likely benign
(Jul 12, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:113885272
- GRCh38:
- Chr2:113127695
| IL1RN | I24N, I27N, I6N | Inborn genetic diseases | Uncertain significance
(Jul 19, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113885278
- GRCh38:
- Chr2:113127701
| IL1RN | R29Q, R8Q, R26Q | Sterile multifocal osteomyelitis with periostitis and pustulosis, Autoinflammatory syndrome | Uncertain significance
(Aug 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:113885280
- GRCh38:
- Chr2:113127703
| IL1RN | P30S, P9S, P27S | Sterile multifocal osteomyelitis with periostitis and pustulosis | Uncertain significance
(Sep 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113885298
- GRCh38:
- Chr2:113127721
| IL1RN | S33G, S15G, S36G | Sterile multifocal osteomyelitis with periostitis and pustulosis | Uncertain significance
(Mar 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113885300
- GRCh38:
- Chr2:113127723
| IL1RN | S15R, S33R, S36R | Sterile multifocal osteomyelitis with periostitis and pustulosis | Uncertain significance
(Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113885309
- GRCh38:
- Chr2:113127732
| IL1RN | | Sterile multifocal osteomyelitis with periostitis and pustulosis | Likely benign
(Jan 13, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113885310
- GRCh38:
- Chr2:113127733
| IL1RN | A19S, A37S, A40S, A3S | Sterile multifocal osteomyelitis with periostitis and pustulosis | Uncertain significance
(Aug 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113885315
- GRCh38:
- Chr2:113127738
| IL1RN | | Sterile multifocal osteomyelitis with periostitis and pustulosis | Likely benign
(Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113885322
- GRCh38:
- Chr2:113127745
| IL1RN | | Autoinflammatory syndrome, Sterile multifocal osteomyelitis with periostitis and pustulosis | Benign
(Nov 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:113885330
- GRCh38:
- Chr2:113127753
| IL1RN | | Sterile multifocal osteomyelitis with periostitis and pustulosis | Likely benign
(Oct 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113885332
- GRCh38:
- Chr2:113127755
| IL1RN | | Sterile multifocal osteomyelitis with periostitis and pustulosis | Likely benign
(Sep 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113887135
- GRCh38:
- Chr2:113129558
| IL1RN | | Sterile multifocal osteomyelitis with periostitis and pustulosis | Likely benign
(May 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113887144
- GRCh38:
- Chr2:113129567
| IL1RN | | Sterile multifocal osteomyelitis with periostitis and pustulosis | Conflicting interpretations of pathogenicity
(Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:113887169
- GRCh38:
- Chr2:113129592
| IL1RN | Q11*, Q27*, Q45*, Q48* | Sterile multifocal osteomyelitis with periostitis and pustulosis | Pathogenic
(May 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113887176
- GRCh38:
- Chr2:113129599
| IL1RN | F14fs, F30fs, F48fs, F51fs | IL1RN-related condition | Likely pathogenic
(Dec 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113887177
- GRCh38:
- Chr2:113129600
| IL1RN | | Sterile multifocal osteomyelitis with periostitis and pustulosis | Likely benign
(Jun 4, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113887181
- GRCh38:
- Chr2:113129604
| IL1RN | Y15H, Y52H, Y49H, Y31H | Sterile multifocal osteomyelitis with periostitis and pustulosis | Uncertain significance
(Apr 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113887191-113887192
- GRCh38:
- Chr2:113129614-113129615
| IL1RN | N18fs, N55fs, N52fs, N34fs | Sterile multifocal osteomyelitis with periostitis and pustulosis | Pathogenic
(Mar 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113887192
- GRCh38:
- Chr2:113129615
| IL1RN | | Sterile multifocal osteomyelitis with periostitis and pustulosis | Likely benign
(Apr 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113887196
- GRCh38:
- Chr2:113129619
| IL1RN | Q54*, Q20*, Q36*, Q57* | Sterile multifocal osteomyelitis with periostitis and pustulosis | Pathogenic
(Jun 4, 2009) | no assertion criteria provided |
| - GRCh37:
- Chr2:113887202
- GRCh38:
- Chr2:113129625
| IL1RN | V22I, V38I, V59I, V56I | Sterile multifocal osteomyelitis with periostitis and pustulosis | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113887205
- GRCh38:
- Chr2:113129628
| IL1RN | A60S, A23S, A39S, A57S | Sterile multifocal osteomyelitis with periostitis and pustulosis | Uncertain significance
(Feb 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113887207
- GRCh38:
- Chr2:113129630
| IL1RN | | Autoinflammatory syndrome, not specified, Sterile multifocal osteomyelitis with periostitis and pustulosis,
not provided | Benign
(Nov 12, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:113887209
- GRCh38:
- Chr2:113129632
| IL1RN | G24V, G40V, G58V, G61V | Sterile multifocal osteomyelitis with periostitis and pustulosis | Uncertain significance
(Sep 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113887221
- GRCh38:
- Chr2:113129644
| IL1RN | G65E, G28E, G62E, G44E | Sterile multifocal osteomyelitis with periostitis and pustulosis | Uncertain significance
(Jul 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113887222
- GRCh38:
- Chr2:113129645
| IL1RN | | Sterile multifocal osteomyelitis with periostitis and pustulosis | Likely benign
(Oct 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113887228
- GRCh38:
- Chr2:113129651
| IL1RN | | Sterile multifocal osteomyelitis with periostitis and pustulosis, Autoinflammatory syndrome | Conflicting interpretations of pathogenicity
(Mar 6, 2020) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:113887233
- GRCh38:
- Chr2:113129656
| IL1RN | N32S, N48S, N66S, N69S | Sterile multifocal osteomyelitis with periostitis and pustulosis | Uncertain significance
(Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113887249
- GRCh38:
- Chr2:113129672
| IL1RN | | Sterile multifocal osteomyelitis with periostitis and pustulosis | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113887262
- GRCh38:
- Chr2:113129685
| IL1RN | | not provided, not specified | Benign
(Nov 12, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:113887273
- GRCh38:
- Chr2:113129696
| IL1RN | | not provided, not specified | Benign
(Nov 12, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:113887294
- GRCh38:
- Chr2:113129717
| IL1RN | | not provided, not specified | Benign
(Nov 12, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:113887335
- GRCh38:
- Chr2:113129758
| IL1RN | | not specified, not provided | Benign
(Nov 12, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:113887338
- GRCh38:
- Chr2:113129761
| IL1RN | | not specified, not provided | Benign
(Nov 12, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:113887376
- GRCh38:
- Chr2:113129799
| IL1RN | | not provided | Benign
(May 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113887399
- GRCh38:
- Chr2:113129822
| IL1RN | | not provided | Benign
(May 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113887458
- GRCh38:
- Chr2:113129881
| IL1RN | | not provided | Benign
(Jun 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113887483
- GRCh38:
- Chr2:113129906
| IL1RN | | not provided, Sterile multifocal osteomyelitis with periostitis and pustulosis, Autoinflammatory syndrome
| Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:113888106-113888277
- GRCh38:
- Chr2:113130529-113130700
| IL1RN | | Gastric cancer susceptibility after h. pylori infection, Microvascular complications of diabetes, susceptibility to, 4 | Pathogenic; risk factor
(Jul 1, 2006) | no assertion criteria provided |
| - GRCh37:
- Chr2:113888465
- GRCh38:
- Chr2:113130888
| IL1RN | | not provided | Benign
(May 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113888470
- GRCh38:
- Chr2:113130893
| IL1RN | | not provided | Benign
(May 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113888557
- GRCh38:
- Chr2:113130980
| IL1RN | | not provided, not specified | Benign
(Nov 12, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:113888579
- GRCh38:
- Chr2:113131002
| IL1RN | | not specified, not provided | Benign
(Nov 12, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:113888603
- GRCh38:
- Chr2:113131026
| IL1RN | | Sterile multifocal osteomyelitis with periostitis and pustulosis | Benign
(Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113888611
- GRCh38:
- Chr2:113131034
| IL1RN | | Sterile multifocal osteomyelitis with periostitis and pustulosis | Likely benign
(Sep 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113888618
- GRCh38:
- Chr2:113131041
| IL1RN | | Sterile multifocal osteomyelitis with periostitis and pustulosis | Likely benign
(Jul 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113888623
- GRCh38:
- Chr2:113131046
| IL1RN | | Autoinflammatory syndrome | Uncertain significance
(Dec 12, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113888626
- GRCh38:
- Chr2:113131049
| IL1RN | K36N, K70N, K52N, K73N | Sterile multifocal osteomyelitis with periostitis and pustulosis | Uncertain significance
(Sep 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113888627-113888641
- GRCh38:
- Chr2:113131050-113131064
| IL1RN | | Sterile multifocal osteomyelitis with periostitis and pustulosis | Likely pathogenic
(Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113888628
- GRCh38:
- Chr2:113131051
| IL1RN | I37T, I53T, I71T, I74T | Microvascular complications of diabetes, susceptibility to, 4, Stomach cancer, Sterile multifocal osteomyelitis with periostitis and pustulosis,
Sterile multifocal osteomyelitis with periostitis and pustulosis | Uncertain significance
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:113888635
- GRCh38:
- Chr2:113131058
| IL1RN | | Sterile multifocal osteomyelitis with periostitis and pustulosis | Likely benign
(Oct 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113888636
- GRCh38:
- Chr2:113131059
| IL1RN | V56I, V74I, V40I, V77I | Sterile multifocal osteomyelitis with periostitis and pustulosis | Uncertain significance
(Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113888645
- GRCh38:
- Chr2:113131068
| IL1RN | E77*, E43*, E59*, E80* | Sterile multifocal osteomyelitis with periostitis and pustulosis | Pathogenic
(Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113888653
- GRCh38:
- Chr2:113131076
| IL1RN | | Sterile multifocal osteomyelitis with periostitis and pustulosis, Autoinflammatory syndrome | Benign/Likely benign
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:113888657
- GRCh38:
- Chr2:113131080
| IL1RN | L63V, L81V, L84V, L47V | Sterile multifocal osteomyelitis with periostitis and pustulosis, Inborn genetic diseases | Conflicting interpretations of pathogenicity
(Aug 2, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:113888659
- GRCh38:
- Chr2:113131082
| IL1RN | | Sterile multifocal osteomyelitis with periostitis and pustulosis | Likely benign
(Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113888661
- GRCh38:
- Chr2:113131084
| IL1RN | F85Y, F64Y, F82Y, F48Y | Sterile multifocal osteomyelitis with periostitis and pustulosis | Uncertain significance
(Aug 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:113888665
- GRCh38:
- Chr2:113131088
| IL1RN | | Sterile multifocal osteomyelitis with periostitis and pustulosis | Uncertain significance
(Jul 17, 2022) | criteria provided, single submitter |