| | | | Familial Mediterranean fever | Pathogenic
(Dec 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3304626
- Chr16:3304739
- GRCh38:
- Chr16:3254626
- Chr16:3254739
| MEFV, MEFV | L110P | not specified | Uncertain significance
(May 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3304770
- GRCh38:
- Chr16:3254770
| MEFV | G100R | Acute febrile neutrophilic dermatosis, Autoinflammatory syndrome, Familial Mediterranean fever,
Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis, Familial Mediterranean fever,
Familial Mediterranean fever, autosomal dominant | Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3299758
- GRCh38:
- Chr16:3249758
| MEFV | | Acute febrile neutrophilic dermatosis, Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis,
Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant, Familial Mediterranean fever
| Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3306408
- GRCh38:
- Chr16:3256408
| MEFV | | Acute febrile neutrophilic dermatosis, Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant,
Inborn genetic diseases | Benign/Likely benign
(Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:3297118
- GRCh38:
- Chr16:3247118
| MEFV | | Inborn genetic diseases, Acute febrile neutrophilic dermatosis, Familial Mediterranean fever,
Familial Mediterranean fever, autosomal dominant | Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3304642
- GRCh38:
- Chr16:3254642
| MEFV | | Acute febrile neutrophilic dermatosis, Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant,
Acute febrile neutrophilic dermatosis, Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant
| Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3306338
- GRCh38:
- Chr16:3256338
| MEFV | E84Q | Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis,
Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis
| Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3304460
- GRCh38:
- Chr16:3254460
| MEFV | L203P | Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis,
Autoinflammatory syndrome | Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3293409
- GRCh38:
- Chr16:3243409
| LOC126862264, MEFV | M693T | Familial Mediterranean fever, Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant,
Acute febrile neutrophilic dermatosis, Acute febrile neutrophilic dermatosis, Familial Mediterranean fever, autosomal dominant
| Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3294514
- GRCh38:
- Chr16:3244514
| LOC126862264, MEFV | Q351R, Q562R | Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis,
Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis
| Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3304658
- GRCh38:
- Chr16:3254658
| MEFV | G137fs | Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis,
Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis
| Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3306520
- GRCh38:
- Chr16:3256520
| MEFV | K23R | Acute febrile neutrophilic dermatosis, Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant,
Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis
| Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3299706
- GRCh38:
- Chr16:3249706
| MEFV | R329C, R118C | Acute febrile neutrophilic dermatosis, Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant,
Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis
| Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3299561
- GRCh38:
- Chr16:3249561
| MEFV | R166H, R377H | Acute febrile neutrophilic dermatosis, not provided, Familial Mediterranean fever,
Familial Mediterranean fever, autosomal dominant | Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3293200
- GRCh38:
- Chr16:3243200
| MEFV | G763R | Acute febrile neutrophilic dermatosis, Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant
| Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3299667
- GRCh38:
- Chr16:3249667
| MEFV | P131S, P342S | Acute febrile neutrophilic dermatosis, not provided, Familial Mediterranean fever,
Familial Mediterranean fever, autosomal dominant | Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3304412
- GRCh38:
- Chr16:3254412
| MEFV | G219D | Acute febrile neutrophilic dermatosis, not provided, Familial Mediterranean fever,
Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis, Familial Mediterranean fever,
Familial Mediterranean fever, autosomal dominant | Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3304637
- GRCh38:
- Chr16:3254637
| MEFV | C144Y | Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis,
not provided | Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3297093
- GRCh38:
- Chr16:3247093
| MEFV | Q293*, Q504* | Acute febrile neutrophilic dermatosis, Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant
| Pathogenic
(Jun 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3296536-3296537
- GRCh38:
- Chr16:3246536-3246537
| MEFV | D322fs, D533fs | Acute febrile neutrophilic dermatosis, Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant
| Likely pathogenic
(Jun 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3306551
- GRCh38:
- Chr16:3256551
| MEFV | L13V | Acute febrile neutrophilic dermatosis, Acute febrile neutrophilic dermatosis, Familial Mediterranean fever,
Familial Mediterranean fever, autosomal dominant, Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant
| Benign
(Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:3297202
- GRCh38:
- Chr16:3247202
| MEFV | | Acute febrile neutrophilic dermatosis, Acute febrile neutrophilic dermatosis, Familial Mediterranean fever,
Familial Mediterranean fever, autosomal dominant, Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant
| Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3306396
- GRCh38:
- Chr16:3256396
| MEFV | | Acute febrile neutrophilic dermatosis, Inborn genetic diseases, Acute febrile neutrophilic dermatosis,
Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant, Familial Mediterranean fever,
Familial Mediterranean fever, autosomal dominant | Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3299686
- GRCh38:
- Chr16:3249686
| MEFV | | Acute febrile neutrophilic dermatosis, Inborn genetic diseases, Familial Mediterranean fever,
Familial Mediterranean fever, autosomal dominant | Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3304303
- GRCh38:
- Chr16:3254303
| MEFV | | Acute febrile neutrophilic dermatosis, Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant,
Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis
| Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3294522
- GRCh38:
- Chr16:3244522
| MEFV | | Acute febrile neutrophilic dermatosis, Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant,
Inborn genetic diseases | Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3297070
- GRCh38:
- Chr16:3247070
| MEFV | | Familial Mediterranean fever, autosomal dominant, Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant,
Acute febrile neutrophilic dermatosis, Acute febrile neutrophilic dermatosis, Familial Mediterranean fever
| Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3306439
- GRCh38:
- Chr16:3256439
| MEFV | P50L | Familial Mediterranean fever, autosomal dominant, Familial Mediterranean fever, Acute febrile neutrophilic dermatosis,
Acute febrile neutrophilic dermatosis, Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant
| Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3293530
- GRCh38:
- Chr16:3243530
| LOC126862264, MEFV | R653S | Familial Mediterranean fever, autosomal dominant, Familial Mediterranean fever, Acute febrile neutrophilic dermatosis,
Acute febrile neutrophilic dermatosis, Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant
| Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3306320
- GRCh38:
- Chr16:3256320
| MEFV | A90P | Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant, Familial Mediterranean fever,
Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis, Acute febrile neutrophilic dermatosis
| Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3306386-3306387
- GRCh38:
- Chr16:3256386-3256387
| MEFV | Q68* | Acute febrile neutrophilic dermatosis, Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant,
Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis
| Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3304229
- GRCh38:
- Chr16:3254229
| MEFV | R280K | Autoinflammatory syndrome, Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant,
Acute febrile neutrophilic dermatosis | Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3293174-3293177
- GRCh38:
- Chr16:3243174-3243177
| MEFV | T771fs | Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis,
Acute febrile neutrophilic dermatosis, Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant
| Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3306389
- GRCh38:
- Chr16:3256389
| MEFV | V67M | Acute febrile neutrophilic dermatosis, not provided, Familial Mediterranean fever,
Familial Mediterranean fever, autosomal dominant, Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant,
Acute febrile neutrophilic dermatosis | Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3304593
- GRCh38:
- Chr16:3254593
| MEFV | S159G | Acute febrile neutrophilic dermatosis, Familial Mediterranean fever, Acute febrile neutrophilic dermatosis,
Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant, Familial Mediterranean fever, autosomal dominant
| Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3304749
- GRCh38:
- Chr16:3254749
| MEFV | S107A | Acute febrile neutrophilic dermatosis, Familial Mediterranean fever, Acute febrile neutrophilic dermatosis,
Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant, Familial Mediterranean fever, autosomal dominant
| Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3304548
- GRCh38:
- Chr16:3254548
| MEFV | K174E | Acute febrile neutrophilic dermatosis, Familial Mediterranean fever, Acute febrile neutrophilic dermatosis,
Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant, Familial Mediterranean fever, autosomal dominant
| Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3306386
- GRCh38:
- Chr16:3256386
| MEFV | Q68* | not provided, Acute febrile neutrophilic dermatosis, Familial Mediterranean fever,
Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis,
Familial Mediterranean fever, autosomal dominant | Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3298865
- GRCh38:
- Chr16:3248865
| MEFV | | not provided, not specified, Familial Mediterranean fever,
Familial Mediterranean fever, autosomal dominant | Benign
(Nov 12, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:3304726
- GRCh38:
- Chr16:3254726
| MEFV | | not provided, Acute febrile neutrophilic dermatosis, Familial Mediterranean fever,
Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis, Familial Mediterranean fever, autosomal dominant,
Familial Mediterranean fever | Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3293989
- GRCh38:
- Chr16:3243989
| LOC126862264, MEFV | G402E | Acute febrile neutrophilic dermatosis, not provided, Familial Mediterranean fever, autosomal dominant,
Familial Mediterranean fever | Benign/Likely benign
(Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:3294242
- GRCh38:
- Chr16:3244242
| LOC126862264, MEFV | | Acute febrile neutrophilic dermatosis, not specified, Familial Mediterranean fever, autosomal dominant,
Familial Mediterranean fever, Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant,
Acute febrile neutrophilic dermatosis | Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| | MEFV | | Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant | Likely pathogenic
(Oct 4, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3304690
- GRCh38:
- Chr16:3254690
| MEFV | | Acute febrile neutrophilic dermatosis, not specified, Familial Mediterranean fever,
Familial Mediterranean fever, autosomal dominant | Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3304445
- GRCh38:
- Chr16:3254445
| MEFV | S208T | Acute febrile neutrophilic dermatosis, Autoinflammatory syndrome, not specified,
Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant | Conflicting interpretations of pathogenicity
(May 22, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3293370
- GRCh38:
- Chr16:3243370
| LOC126862264, MEFV | P706L | Acute febrile neutrophilic dermatosis, Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant,
Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis
| Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3304571
- GRCh38:
- Chr16:3254571
| MEFV | S166L | Acute febrile neutrophilic dermatosis, Familial Mediterranean fever, autosomal dominant, Familial Mediterranean fever,
Acute febrile neutrophilic dermatosis, Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant
| Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3304497-3304498
- GRCh38:
- Chr16:3254497-3254498
| MEFV | | MEFV-related condition, Acute febrile neutrophilic dermatosis, not provided,
Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis,
Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant | Conflicting interpretations of pathogenicity
(Apr 5, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3298913
- GRCh38:
- Chr16:3248913
| MEFV | F240C, F451C | Acute febrile neutrophilic dermatosis, not provided, Familial Mediterranean fever,
Familial Mediterranean fever, autosomal dominant | Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3297075
- GRCh38:
- Chr16:3247075
| MEFV | D299N, D510N | Acute febrile neutrophilic dermatosis, Familial Mediterranean fever, autosomal dominant, Familial Mediterranean fever,
Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis, Familial Mediterranean fever
| Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3304502
- GRCh38:
- Chr16:3254502
| MEFV | G189V | Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis,
Acute febrile neutrophilic dermatosis, Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant
| Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3298941
- GRCh38:
- Chr16:3248941
| MEFV | S231T, S442T | Acute febrile neutrophilic dermatosis, Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant,
Acute febrile neutrophilic dermatosis, Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant
| Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3304494
- GRCh38:
- Chr16:3254494
| MEFV | R192G | Acute febrile neutrophilic dermatosis, not provided, Familial Mediterranean fever,
Familial Mediterranean fever, autosomal dominant | Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3297102
- GRCh38:
- Chr16:3247102
| MEFV | R290C, R501C | Acute febrile neutrophilic dermatosis, not specified, Familial Mediterranean fever,
Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis, Familial Mediterranean fever,
Familial Mediterranean fever, autosomal dominant | Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3299586
- GRCh38:
- Chr16:3249586
| MEFV | P369T, P158T | Acute febrile neutrophilic dermatosis, not specified, Familial Mediterranean fever,
Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis, Familial Mediterranean fever, autosomal dominant,
Familial Mediterranean fever | Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3293419
- GRCh38:
- Chr16:3243419
| LOC126862264, MEFV | V690L | Acute febrile neutrophilic dermatosis, Familial Mediterranean fever, autosomal dominant, Familial Mediterranean fever,
Acute febrile neutrophilic dermatosis, Familial Mediterranean fever, autosomal dominant, Familial Mediterranean fever
| Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3294255
- GRCh38:
- Chr16:3244255
| LOC126862264, MEFV | | Acute febrile neutrophilic dermatosis, Familial Mediterranean fever, autosomal dominant, Familial Mediterranean fever
| Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3304260
- GRCh38:
- Chr16:3254260
| MEFV | N270D | Acute febrile neutrophilic dermatosis, Acute febrile neutrophilic dermatosis, Familial Mediterranean fever,
Familial Mediterranean fever, autosomal dominant, Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant,
not provided | Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3294518
- GRCh38:
- Chr16:3244518
| LOC126862264, MEFV | H561Y, H350Y | Acute febrile neutrophilic dermatosis, Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant,
Acute febrile neutrophilic dermatosis, Familial Mediterranean fever, autosomal dominant, Familial Mediterranean fever
| Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3297081
- GRCh38:
- Chr16:3247081
| MEFV | L508V, L297V | Acute febrile neutrophilic dermatosis, not provided, Familial Mediterranean fever,
Familial Mediterranean fever, autosomal dominant | Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3293422
- GRCh38:
- Chr16:3243422
| LOC126862264, MEFV | W689R | Acute febrile neutrophilic dermatosis, Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant,
Acute febrile neutrophilic dermatosis, Familial Mediterranean fever, autosomal dominant, Familial Mediterranean fever
| Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3304663
- GRCh38:
- Chr16:3254663
| MEFV | Y135* | Acute febrile neutrophilic dermatosis, Familial Mediterranean fever, autosomal dominant, Familial Mediterranean fever,
Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis
| Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3299718
- GRCh38:
- Chr16:3249718
| MEFV | G114S, G325S | Acute febrile neutrophilic dermatosis, Familial Mediterranean fever, autosomal dominant, Familial Mediterranean fever,
Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis
| Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3304520
- GRCh38:
- Chr16:3254520
| MEFV | P183L | Inborn genetic diseases, Acute febrile neutrophilic dermatosis, Familial Mediterranean fever,
Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis, Familial Mediterranean fever,
Familial Mediterranean fever, autosomal dominant | Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3304240
- GRCh38:
- Chr16:3254240
| MEFV | E276D | Acute febrile neutrophilic dermatosis, Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant,
Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis, Familial Mediterranean fever
| Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3293376
- GRCh38:
- Chr16:3243376
| LOC126862264, MEFV | V704G | Acute febrile neutrophilic dermatosis, Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant,
Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis, Familial Mediterranean fever
| Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3304711
- GRCh38:
- Chr16:3254711
| MEFV | K119N | Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis,
Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant | Uncertain significance
(Mar 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3304578
- GRCh38:
- Chr16:3254578
| MEFV | K164Q | Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis,
Acute febrile neutrophilic dermatosis, Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant,
not specified | Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3293491
- GRCh38:
- Chr16:3243491
| LOC126862264, MEFV | I666F | Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis,
Acute febrile neutrophilic dermatosis, Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant,
not specified | Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3293879
- GRCh38:
- Chr16:3243879
| LOC126862264, MEFV | W439G, I591M | Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis
| Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3293598
- GRCh38:
- Chr16:3243598
| LOC126862264, MEFV | P630L | Familial Mediterranean fever, autosomal dominant, Familial Mediterranean fever, Familial Mediterranean fever,
Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis, Acute febrile neutrophilic dermatosis
| Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3293592
- GRCh38:
- Chr16:3243592
| LOC126862264, MEFV | G632A | Familial Mediterranean fever, autosomal dominant, Familial Mediterranean fever, Acute febrile neutrophilic dermatosis
| Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3293337
- GRCh38:
- Chr16:3243337
| LOC126862264, MEFV | R717H | Familial Mediterranean fever, autosomal dominant, Familial Mediterranean fever, Familial Mediterranean fever,
Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis, Acute febrile neutrophilic dermatosis
| Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3293337
- GRCh38:
- Chr16:3243337
| LOC126862264, MEFV | R717L | not specified, Familial Mediterranean fever, autosomal dominant, Familial Mediterranean fever,
Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis,
Acute febrile neutrophilic dermatosis | Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3293588
- GRCh38:
- Chr16:3243588
| LOC126862264, MEFV | | Acute febrile neutrophilic dermatosis, Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant,
Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis
| Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3306357
- GRCh38:
- Chr16:3256357
| MEFV | | not provided, Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant,
Acute febrile neutrophilic dermatosis, Acute febrile neutrophilic dermatosis, Familial Mediterranean fever, autosomal dominant,
Familial Mediterranean fever | Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3298921
- GRCh38:
- Chr16:3248921
| MEFV | | Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis,
Acute febrile neutrophilic dermatosis, Familial Mediterranean fever, autosomal dominant, Familial Mediterranean fever
| Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3304612
- GRCh38:
- Chr16:3254612
| MEFV | | Acute febrile neutrophilic dermatosis, Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant,
Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis
| Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3304652
- GRCh38:
- Chr16:3254652
| MEFV | A139D | Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis,
Familial Mediterranean fever, not specified | Conflicting interpretations of pathogenicity
(Oct 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3306540
- GRCh38:
- Chr16:3256540
| MEFV | | Acute febrile neutrophilic dermatosis, not provided, Familial Mediterranean fever,
Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis, Inborn genetic diseases,
Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant | Conflicting interpretations of pathogenicity
(Apr 25, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3294678
- GRCh38:
- Chr16:3244678
| MEFV | | Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant, not provided
| Benign
(Jul 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:3306917
- GRCh38:
- Chr16:3256917
| MEFV | | not provided, Acute febrile neutrophilic dermatosis, Familial Mediterranean fever,
Familial Mediterranean fever, autosomal dominant | Benign/Likely benign
(Jul 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:3304654
- GRCh38:
- Chr16:3254654
| MEFV | | Acute febrile neutrophilic dermatosis, not provided, Familial Mediterranean fever,
Familial Mediterranean fever, autosomal dominant, Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant,
Acute febrile neutrophilic dermatosis | Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3293882
- GRCh38:
- Chr16:3243882
| LOC126862264, MEFV | D438N | not provided, Acute febrile neutrophilic dermatosis, Familial Mediterranean fever,
Familial Mediterranean fever, autosomal dominant | Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3304532
- GRCh38:
- Chr16:3254532
| MEFV | S179N | Acute febrile neutrophilic dermatosis, Familial Mediterranean fever, not provided,
Familial Mediterranean fever, autosomal dominant | Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3299540
- GRCh38:
- Chr16:3249540
| MEFV | L384P, L173P | Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis,
Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis,
Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant | Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3304482
- GRCh38:
- Chr16:3254482
| MEFV | G196R | Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis, Familial Mediterranean fever,
Acute febrile neutrophilic dermatosis, Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant
| Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3293364
- GRCh38:
- Chr16:3243364
| LOC126862264, MEFV | R708H | Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis,
Acute febrile neutrophilic dermatosis, Familial Mediterranean fever, autosomal dominant, Familial Mediterranean fever
| Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3297071
- GRCh38:
- Chr16:3247071
| MEFV | A511V, A300V | not specified, Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant,
Acute febrile neutrophilic dermatosis, Acute febrile neutrophilic dermatosis, Familial Mediterranean fever, autosomal dominant,
Familial Mediterranean fever | Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3294278
- GRCh38:
- Chr16:3244278
| LOC126862264, MEFV | R579C, R368C | Acute febrile neutrophilic dermatosis, Autoinflammatory syndrome, Familial Mediterranean fever, autosomal dominant,
not provided, Familial Mediterranean fever | Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3294556
- GRCh38:
- Chr16:3244556
| MEFV | T548N, T337N | not provided, not specified, Familial Mediterranean fever, autosomal dominant,
Familial Mediterranean fever, Acute febrile neutrophilic dermatosis, Autoinflammatory syndrome
| Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3304504
- GRCh38:
- Chr16:3254504
| MEFV | | not specified, Familial Mediterranean fever, autosomal dominant, Familial Mediterranean fever,
Acute febrile neutrophilic dermatosis | Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3306349
- GRCh38:
- Chr16:3256349
| MEFV | R80H | Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis,
Familial Mediterranean fever, autosomal dominant, Familial Mediterranean fever, Acute febrile neutrophilic dermatosis,
not specified, not provided | Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3297235
- GRCh38:
- Chr16:3247235
| MEFV | E456D, E245D | not specified, Familial Mediterranean fever, autosomal dominant, Familial Mediterranean fever,
Acute febrile neutrophilic dermatosis, Autoinflammatory syndrome | Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3299560
- GRCh38:
- Chr16:3249560
| MEFV | | Acute febrile neutrophilic dermatosis, Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant,
Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant | Uncertain significance
(Nov 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3304737
- GRCh38:
- Chr16:3254737
| MEFV | G111R | not provided, Acute febrile neutrophilic dermatosis, Acute febrile neutrophilic dermatosis,
Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant, Familial Mediterranean fever,
Familial Mediterranean fever, autosomal dominant | Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3304757
- GRCh38:
- Chr16:3254757
| MEFV | S104C | Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis, Familial Mediterranean fever,
Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis
| Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3293442-3293443
- GRCh38:
- Chr16:3243442-3243443
| LOC126862264, MEFV | L682fs | Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis, Familial Mediterranean fever,
Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant, Acute febrile neutrophilic dermatosis
| Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3299599
- GRCh38:
- Chr16:3249599
| MEFV | | Acute febrile neutrophilic dermatosis, Familial Mediterranean fever, Familial Mediterranean fever, autosomal dominant,
Acute febrile neutrophilic dermatosis, not provided, Familial Mediterranean fever,
Familial Mediterranean fever, autosomal dominant | Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |