| - GRCh37:
- Chr19:39034444
- Chr19:38995979-38995980
- GRCh38:
- Chr19:38543804
- Chr19:38505339-38505340
| RYR1, LOC126862902, RYR1 | H3976Y, I2781fs | Congenital multicore myopathy with external ophthalmoplegia | Pathogenic
(Nov 1, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr19:38985217
- GRCh38:
- Chr19:38494577
| RYR1 | I2167S | King Denborough syndrome | Likely pathogenic
(Feb 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38993555
- GRCh38:
- Chr19:38502915
| RYR1 | R2624P | King Denborough syndrome | Uncertain significance
(May 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38937120
- GRCh38:
- Chr19:38446480
| RYR1 | T214A | Malignant hyperthermia, susceptibility to, 1, Central core myopathy, Congenital multicore myopathy with external ophthalmoplegia,
King Denborough syndrome, Congenital myopathy with fiber type disproportion, Malignant hyperthermia, susceptibility to, 1
| Uncertain significance
(Aug 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38948289
- GRCh38:
- Chr19:38457649
| RYR1 | | RYR1-Related Disorders, Malignant hyperthermia, susceptibility to, 1, Congenital myopathy with fiber type disproportion,
Central core myopathy, Congenital multicore myopathy with external ophthalmoplegia, King Denborough syndrome
| Likely benign
(Aug 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:39019647
- GRCh38:
- Chr19:38529007
| RYR1 | | RYR1-Related Disorders, Malignant hyperthermia, susceptibility to, 1, Congenital myopathy with fiber type disproportion,
Central core myopathy, Congenital multicore myopathy with external ophthalmoplegia, King Denborough syndrome
| Likely benign
(Aug 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:39037067
- GRCh38:
- Chr19:38546427
| RYR1 | | RYR1-Related Disorders, Central core myopathy, Congenital multicore myopathy with external ophthalmoplegia,
King Denborough syndrome, Malignant hyperthermia, susceptibility to, 1, Congenital myopathy with fiber type disproportion
| Likely benign
(Sep 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:39055787
- GRCh38:
- Chr19:38565147
| RYR1 | | RYR1-Related Disorders, King Denborough syndrome, Malignant hyperthermia, susceptibility to, 1,
Congenital myopathy with fiber type disproportion, Central core myopathy, Congenital multicore myopathy with external ophthalmoplegia
| Likely benign
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38974075
- GRCh38:
- Chr19:38483435
| RYR1 | R1618H | RYR1-Related Disorders, King Denborough syndrome, Central core myopathy,
Congenital myopathy with fiber type disproportion, Malignant hyperthermia, susceptibility to, 1, Congenital multicore myopathy with external ophthalmoplegia
| Uncertain significance
(Aug 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:39056142
- GRCh38:
- Chr19:38565502
| RYR1 | E4385K, E4390K | RYR1-Related Disorders, King Denborough syndrome, Central core myopathy,
Congenital myopathy with fiber type disproportion, Malignant hyperthermia, susceptibility to, 1, Congenital multicore myopathy with external ophthalmoplegia,
Inborn genetic diseases | Uncertain significance
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38990286
- GRCh38:
- Chr19:38499646
| RYR1 | E2347K | RYR1-Related Disorders, King Denborough syndrome, Central core myopathy,
Congenital myopathy with fiber type disproportion, Malignant hyperthermia, susceptibility to, 1, Congenital multicore myopathy with external ophthalmoplegia
| Uncertain significance
(Jul 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38966055
- GRCh38:
- Chr19:38475415
| RYR1 | R1420C | not provided, RYR1-Related Disorders, Central core myopathy,
King Denborough syndrome, Malignant hyperthermia, susceptibility to, 1, Congenital multicore myopathy with external ophthalmoplegia,
Congenital myopathy with fiber type disproportion | Uncertain significance
(Aug 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38956984
- GRCh38:
- Chr19:38466344
| RYR1 | V1042M | RYR1-Related Disorders, Central core myopathy, King Denborough syndrome,
Malignant hyperthermia, susceptibility to, 1, Congenital multicore myopathy with external ophthalmoplegia, Congenital myopathy with fiber type disproportion
| Uncertain significance
(Sep 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:39056425
- GRCh38:
- Chr19:38565785
| RYR1 | | RYR1-Related Disorders, Central core myopathy, King Denborough syndrome,
Malignant hyperthermia, susceptibility to, 1, Congenital multicore myopathy with external ophthalmoplegia, Congenital myopathy with fiber type disproportion
| Uncertain significance
(Dec 3, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:39008202
- GRCh38:
- Chr19:38517562
| RYR1 | P3297S | RYR1-Related Disorders, Central core myopathy, King Denborough syndrome,
Malignant hyperthermia, susceptibility to, 1, Congenital multicore myopathy with external ophthalmoplegia, Congenital myopathy with fiber type disproportion
| Uncertain significance
(Oct 20, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38993160
- GRCh38:
- Chr19:38502520
| RYR1 | T2543I | RYR1-Related Disorders, Central core myopathy, King Denborough syndrome,
Malignant hyperthermia, susceptibility to, 1, Congenital multicore myopathy with external ophthalmoplegia, Congenital myopathy with fiber type disproportion
| Uncertain significance
(Oct 7, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:39016011
- GRCh38:
- Chr19:38525371
| RYR1 | R3499W, R3494W | RYR1-Related Disorders, Central core myopathy, Congenital myopathy with fiber type disproportion,
Congenital multicore myopathy with external ophthalmoplegia, King Denborough syndrome, Malignant hyperthermia, susceptibility to, 1
| Uncertain significance
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38976583
- GRCh38:
- Chr19:38485943
| RYR1 | P1763L | RYR1-Related Disorders, Central core myopathy, Congenital myopathy with fiber type disproportion,
Congenital multicore myopathy with external ophthalmoplegia, King Denborough syndrome, Malignant hyperthermia, susceptibility to, 1
| Uncertain significance
(Aug 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38939019
- GRCh38:
- Chr19:38448379
| RYR1 | W275C | RYR1-Related Disorders, Central core myopathy, Congenital myopathy with fiber type disproportion,
Congenital multicore myopathy with external ophthalmoplegia, King Denborough syndrome, Malignant hyperthermia, susceptibility to, 1
| Uncertain significance
(Jul 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:39066557
- GRCh38:
- Chr19:38575917
| RYR1 | | not provided, RYR1-Related Disorders, King Denborough syndrome,
Central core myopathy, Malignant hyperthermia, susceptibility to, 1, Congenital myopathy with fiber type disproportion,
Congenital multicore myopathy with external ophthalmoplegia | Pathogenic
(Mar 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:39056175
- GRCh38:
- Chr19:38565535
| RYR1 | G4396R, G4401R | Inborn genetic diseases, Central core myopathy, Malignant hyperthermia, susceptibility to, 1,
King Denborough syndrome, Congenital multicore myopathy with external ophthalmoplegia, Congenital myopathy with fiber type disproportion,
RYR1-Related Disorders | Uncertain significance
(May 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:39051784
- GRCh38:
- Chr19:38561144
| RYR1 | P4105R, P4100R | Central core myopathy, Malignant hyperthermia, susceptibility to, 1, King Denborough syndrome,
Congenital multicore myopathy with external ophthalmoplegia, Congenital myopathy with fiber type disproportion, RYR1-Related Disorders
| Uncertain significance
(Mar 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38980792
- GRCh38:
- Chr19:38490152
| RYR1 | R1964H | Inborn genetic diseases, Central core myopathy, Malignant hyperthermia, susceptibility to, 1,
King Denborough syndrome, Congenital multicore myopathy with external ophthalmoplegia, Congenital myopathy with fiber type disproportion,
RYR1-Related Disorders | Uncertain significance
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:39016005
- GRCh38:
- Chr19:38525365
| RYR1 | K3492Q, K3497Q | Central core myopathy, Malignant hyperthermia, susceptibility to, 1, King Denborough syndrome,
Congenital multicore myopathy with external ophthalmoplegia, Congenital myopathy with fiber type disproportion, RYR1-Related Disorders
| Uncertain significance
(Aug 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38976445
- GRCh38:
- Chr19:38485805
| RYR1 | I1717S | Central core myopathy, Malignant hyperthermia, susceptibility to, 1, King Denborough syndrome,
Congenital multicore myopathy with external ophthalmoplegia, Congenital myopathy with fiber type disproportion, RYR1-Related Disorders
| Uncertain significance
(Jun 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38939445-38939447
- GRCh38:
- Chr19:38448805-38448807
| RYR1 | K374del | RYR1-Related Disorders, Congenital myopathy with fiber type disproportion, Malignant hyperthermia, susceptibility to, 1,
King Denborough syndrome, Congenital multicore myopathy with external ophthalmoplegia, Central core myopathy
| Uncertain significance
(Mar 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38964077
- GRCh38:
- Chr19:38473437
| RYR1 | W1276R | RYR1-Related Disorders, Congenital myopathy with fiber type disproportion, Malignant hyperthermia, susceptibility to, 1,
King Denborough syndrome, Congenital multicore myopathy with external ophthalmoplegia, Central core myopathy
| Uncertain significance
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38973719-38973720
- GRCh38:
- Chr19:38483079-38483080
| RYR1 | N1559fs | RYR1-Related Disorders, Congenital myopathy with fiber type disproportion, Malignant hyperthermia, susceptibility to, 1,
King Denborough syndrome, Congenital multicore myopathy with external ophthalmoplegia, Central core myopathy
| Pathogenic/Likely pathogenic
(Sep 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38939316
- GRCh38:
- Chr19:38448676
| RYR1 | D329N | RYR1-Related Disorders, Congenital myopathy with fiber type disproportion, Malignant hyperthermia, susceptibility to, 1,
King Denborough syndrome, Congenital multicore myopathy with external ophthalmoplegia, Central core myopathy
| Uncertain significance
(Oct 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:39062686
- GRCh38:
- Chr19:38572046
| RYR1 | D4587N, D4592N | RYR1-Related Disorders, Congenital myopathy with fiber type disproportion, Malignant hyperthermia, susceptibility to, 1,
King Denborough syndrome, Congenital multicore myopathy with external ophthalmoplegia, Central core myopathy
| Uncertain significance
(Aug 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:39001306
- GRCh38:
- Chr19:38510666
| RYR1 | L3003F | RYR1-Related Disorders, Congenital myopathy with fiber type disproportion, Malignant hyperthermia, susceptibility to, 1,
King Denborough syndrome, Congenital multicore myopathy with external ophthalmoplegia, Central core myopathy
| Uncertain significance
(Sep 17, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38979876
- GRCh38:
- Chr19:38489236
| RYR1 | E1869D | RYR1-Related Disorders, Congenital myopathy with fiber type disproportion, Malignant hyperthermia, susceptibility to, 1,
King Denborough syndrome, Congenital multicore myopathy with external ophthalmoplegia, Central core myopathy,
not provided | Uncertain significance
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:39056253
- GRCh38:
- Chr19:38565613
| LOC130064357, RYR1 | H4422Y, H4427Y | RYR1-Related Disorders, Malignant hyperthermia, susceptibility to, 1, Congenital myopathy with fiber type disproportion,
Central core myopathy, Congenital multicore myopathy with external ophthalmoplegia, King Denborough syndrome
| Uncertain significance
(Feb 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38976679
- GRCh38:
- Chr19:38486039
| RYR1 | P1795L | RYR1-Related Disorders, King Denborough syndrome, Congenital multicore myopathy with external ophthalmoplegia,
Malignant hyperthermia, susceptibility to, 1, Congenital myopathy with fiber type disproportion, Central core myopathy
| Uncertain significance
(Sep 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38987563
- GRCh38:
- Chr19:38496923
| RYR1 | A2287D | RYR1-Related Disorders, King Denborough syndrome, Congenital multicore myopathy with external ophthalmoplegia,
Malignant hyperthermia, susceptibility to, 1, Congenital myopathy with fiber type disproportion, Central core myopathy
| Uncertain significance
(Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38993325
- GRCh38:
- Chr19:38502685
| RYR1 | A2598G | RYR1-Related Disorders, King Denborough syndrome, Congenital multicore myopathy with external ophthalmoplegia,
Malignant hyperthermia, susceptibility to, 1, Congenital myopathy with fiber type disproportion, Central core myopathy
| Uncertain significance
(Aug 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:39055809-39055810
- GRCh38:
- Chr19:38565169-38565170
| RYR1 | | King Denborough syndrome, Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia, susceptibility to, 1,
Congenital myopathy with fiber type disproportion, Central core myopathy, RYR1-Related Disorders
| Uncertain significance
(Mar 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:39051780
- GRCh38:
- Chr19:38561140
| RYR1 | G4099S, G4104S | King Denborough syndrome, Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia, susceptibility to, 1,
Congenital myopathy with fiber type disproportion, Central core myopathy, RYR1-Related Disorders
| Uncertain significance
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38948732
- GRCh38:
- Chr19:38458092
| RYR1 | T656M | RYR1-Related Disorders, Congenital multicore myopathy with external ophthalmoplegia, Congenital myopathy with fiber type disproportion,
Malignant hyperthermia, susceptibility to, 1, Central core myopathy, King Denborough syndrome
| Uncertain significance
(Oct 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:39013726
- GRCh38:
- Chr19:38523086
| RYR1 | E3440K | RYR1-Related Disorders, Malignant hyperthermia, susceptibility to, 1, King Denborough syndrome,
Congenital multicore myopathy with external ophthalmoplegia, Congenital myopathy with fiber type disproportion, Central core myopathy
| Uncertain significance
(Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38948839
- GRCh38:
- Chr19:38458199
| RYR1 | T692A | RYR1-Related Disorders, not provided, Malignant hyperthermia, susceptibility to, 1,
King Denborough syndrome, Congenital multicore myopathy with external ophthalmoplegia, Congenital myopathy with fiber type disproportion,
Central core myopathy | Uncertain significance
(Oct 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38973679
- GRCh38:
- Chr19:38483039
| RYR1 | T1545A | RYR1-Related Disorders, Malignant hyperthermia, susceptibility to, 1, King Denborough syndrome,
Congenital multicore myopathy with external ophthalmoplegia, Congenital myopathy with fiber type disproportion, Central core myopathy
| Uncertain significance
(Aug 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:39052055
- GRCh38:
- Chr19:38561415
| RYR1 | E4190D, E4195D | RYR1-Related Disorders, Malignant hyperthermia, susceptibility to, 1, Congenital multicore myopathy with external ophthalmoplegia,
Central core myopathy, King Denborough syndrome, Congenital myopathy with fiber type disproportion
| Uncertain significance
(Mar 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38990400
- GRCh38:
- Chr19:38499760
| RYR1 | R2385C | RYR1-Related Disorders, Malignant hyperthermia, susceptibility to, 1, Congenital multicore myopathy with external ophthalmoplegia,
Central core myopathy, King Denborough syndrome, Congenital myopathy with fiber type disproportion,
not provided | Uncertain significance
(May 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38939141
- GRCh38:
- Chr19:38448501
| RYR1 | R316H | RYR1-Related Disorders, Malignant hyperthermia, susceptibility to, 1, Congenital multicore myopathy with external ophthalmoplegia,
Central core myopathy, King Denborough syndrome, Congenital myopathy with fiber type disproportion
| Uncertain significance
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:39052069
- GRCh38:
- Chr19:38561429
| RYR1 | N4200I, N4195I | RYR1-Related Disorders, Malignant hyperthermia, susceptibility to, 1, Congenital multicore myopathy with external ophthalmoplegia,
Central core myopathy, King Denborough syndrome, Congenital myopathy with fiber type disproportion
| Uncertain significance
(Aug 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38956916
- GRCh38:
- Chr19:38466276
| RYR1 | R1019Q | RYR1-Related Disorders, Congenital multicore myopathy with external ophthalmoplegia, Congenital myopathy with fiber type disproportion,
King Denborough syndrome, Central core myopathy, Malignant hyperthermia, susceptibility to, 1,
not provided | Uncertain significance
(Oct 19, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:39055999-39056000
- GRCh38:
- Chr19:38565359-38565360
| RYR1 | | RYR1-Related Disorders, Congenital multicore myopathy with external ophthalmoplegia, Congenital myopathy with fiber type disproportion,
King Denborough syndrome, Central core myopathy, Malignant hyperthermia, susceptibility to, 1
| Uncertain significance
(Feb 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:39056142
- GRCh38:
- Chr19:38565502
| RYR1 | E4385Q, E4390Q | RYR1-Related Disorders, Congenital multicore myopathy with external ophthalmoplegia, Congenital myopathy with fiber type disproportion,
King Denborough syndrome, Central core myopathy, Malignant hyperthermia, susceptibility to, 1
| Uncertain significance
(Oct 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:39008044
- GRCh38:
- Chr19:38517404
| RYR1 | P3244L | RYR1-Related Disorders, Congenital multicore myopathy with external ophthalmoplegia, Congenital myopathy with fiber type disproportion,
King Denborough syndrome, Central core myopathy, Malignant hyperthermia, susceptibility to, 1
| Uncertain significance
(Jun 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38958442
- GRCh38:
- Chr19:38467802
| RYR1 | N1124S | RYR1-Related Disorders, Congenital multicore myopathy with external ophthalmoplegia, Congenital myopathy with fiber type disproportion,
King Denborough syndrome, Central core myopathy, Malignant hyperthermia, susceptibility to, 1
| Uncertain significance
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:39058463
- GRCh38:
- Chr19:38567823
| RYR1 | P4517H, P4522H | Congenital multicore myopathy with external ophthalmoplegia, Congenital myopathy with fiber type disproportion, King Denborough syndrome,
Central core myopathy, Malignant hyperthermia, susceptibility to, 1, Central core myopathy
| Uncertain significance
(Aug 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:39055820
- GRCh38:
- Chr19:38565180
| RYR1 | | RYR1-Related Disorders, King Denborough syndrome, Central core myopathy,
Malignant hyperthermia, susceptibility to, 1, Congenital multicore myopathy with external ophthalmoplegia, Congenital myopathy with fiber type disproportion
| Likely benign
(Oct 29, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:39070706
- GRCh38:
- Chr19:38580066
| RYR1 | I4812V, I4817V | not provided, Congenital myopathy with fiber type disproportion, Congenital multicore myopathy with external ophthalmoplegia,
King Denborough syndrome, Malignant hyperthermia, susceptibility to, 1, Central core myopathy,
RYR1-Related Disorders | Uncertain significance
(Sep 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:39068845
- GRCh38:
- Chr19:38578205
| RYR1 | | Malignant hyperthermia of anesthesia | Uncertain significance
(Jan 3, 2022) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr19:39008181
- GRCh38:
- Chr19:38517541
| RYR1 | E3290K | Malignant hyperthermia of anesthesia | Uncertain significance
(Apr 6, 2023) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr19:38956858
- GRCh38:
- Chr19:38466218
| RYR1 | V1000M | not provided, Central core myopathy, Malignant hyperthermia, susceptibility to, 1,
King Denborough syndrome, Congenital multicore myopathy with external ophthalmoplegia, Congenital myopathy with fiber type disproportion
| Uncertain significance
(Oct 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38937345
- GRCh38:
- Chr19:38446705
| RYR1 | Y246C | not provided, Central core myopathy, Malignant hyperthermia, susceptibility to, 1,
King Denborough syndrome, Congenital multicore myopathy with external ophthalmoplegia, Congenital myopathy with fiber type disproportion
| Uncertain significance
(Nov 8, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:39062797
- GRCh38:
- Chr19:38572157
| RYR1 | V4624M, V4629M | not provided, Central core myopathy, Malignant hyperthermia, susceptibility to, 1,
King Denborough syndrome, Congenital multicore myopathy with external ophthalmoplegia, Congenital myopathy with fiber type disproportion
| Uncertain significance
(Dec 22, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:39055884
- GRCh38:
- Chr19:38565244
| RYR1 | A4299T, A4304T | Congenital myopathy with fiber type disproportion, Malignant hyperthermia, susceptibility to, 1, Central core myopathy,
King Denborough syndrome, Congenital multicore myopathy with external ophthalmoplegia, not provided,
Inborn genetic diseases | Uncertain significance
(Oct 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38985021
- GRCh38:
- Chr19:38494381
| RYR1 | V2102L | Malignant hyperthermia, susceptibility to, 1 | Uncertain significance
(Apr 6, 2023) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr19:38931458
- GRCh38:
- Chr19:38440818
| RYR1 | G40A | Malignant hyperthermia, susceptibility to, 1 | Uncertain significance
(Apr 6, 2023) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr19:38951038
- GRCh38:
- Chr19:38460398
| RYR1 | R795H | RYR1-Related Disorders, Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia, susceptibility to, 1,
Congenital myopathy with fiber type disproportion, King Denborough syndrome, Central core myopathy,
not provided | Uncertain significance
(May 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:39005704
- GRCh38:
- Chr19:38515064
| RYR1 | S3171R | RYR1-Related Disorders, not provided, Congenital multicore myopathy with external ophthalmoplegia,
Malignant hyperthermia, susceptibility to, 1, Congenital myopathy with fiber type disproportion, King Denborough syndrome,
Central core myopathy | Uncertain significance
(Dec 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38993255
- GRCh38:
- Chr19:38502615
| RYR1 | R2575C | not provided, Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia, susceptibility to, 1,
Congenital myopathy with fiber type disproportion, King Denborough syndrome, Central core myopathy
| Uncertain significance
(Aug 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38956791
- GRCh38:
- Chr19:38466151
| RYR1 | | Central core myopathy, Congenital multicore myopathy with external ophthalmoplegia, Congenital myopathy with fiber type disproportion,
King Denborough syndrome, Malignant hyperthermia, susceptibility to, 1, RYR1-Related Disorders
| Likely benign
(Jul 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:39015992
- GRCh38:
- Chr19:38525352
| RYR1 | | RYR1-Related Disorders, Malignant hyperthermia, susceptibility to, 1, Congenital myopathy with fiber type disproportion,
Central core myopathy, Congenital multicore myopathy with external ophthalmoplegia, King Denborough syndrome
| Likely benign
(Sep 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:39062902
- GRCh38:
- Chr19:38572262
| RYR1 | C4659R, C4664R | Malignant hyperthermia of anesthesia | Uncertain significance
(Apr 6, 2023) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr19:38945952
- GRCh38:
- Chr19:38455312
| LOC129391106, RYR1 | | Central core myopathy, Congenital multicore myopathy with external ophthalmoplegia, Congenital myopathy with fiber type disproportion,
King Denborough syndrome, Malignant hyperthermia, susceptibility to, 1, RYR1-Related Disorders
| Likely benign
(Jul 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:39013755
- GRCh38:
- Chr19:38523115
| RYR1 | | RYR1-Related Disorders, Congenital myopathy with fiber type disproportion, Central core myopathy,
Malignant hyperthermia, susceptibility to, 1, Congenital multicore myopathy with external ophthalmoplegia, King Denborough syndrome
| Uncertain significance
(May 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38954167
- GRCh38:
- Chr19:38463527
| RYR1 | | RYR1-Related Disorders, not provided, Congenital myopathy with fiber type disproportion,
Central core myopathy, Malignant hyperthermia, susceptibility to, 1, Congenital multicore myopathy with external ophthalmoplegia,
King Denborough syndrome | Conflicting interpretations of pathogenicity
(Jul 19, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:38954390
- GRCh38:
- Chr19:38463750
| RYR1 | R896W | RYR1-Related Disorders, not provided, Congenital myopathy with fiber type disproportion,
Central core myopathy, Malignant hyperthermia, susceptibility to, 1, Congenital multicore myopathy with external ophthalmoplegia,
King Denborough syndrome | Uncertain significance
(Jul 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38964104
- GRCh38:
- Chr19:38473464
| RYR1 | M1285V | RYR1-Related Disorders, not provided, Congenital multicore myopathy with external ophthalmoplegia,
Central core myopathy, Congenital myopathy with fiber type disproportion, King Denborough syndrome,
Malignant hyperthermia, susceptibility to, 1 | Uncertain significance
(Aug 18, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38998439
- GRCh38:
- Chr19:38507799
| RYR1 | D2968E | RYR1-Related Disorders, Congenital myopathy with fiber type disproportion, Central core myopathy,
Malignant hyperthermia, susceptibility to, 1, Congenital multicore myopathy with external ophthalmoplegia, King Denborough syndrome
| Uncertain significance
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38959729
- GRCh38:
- Chr19:38469089
| RYR1 | M1169V | RYR1-Related Disorders, Congenital myopathy with fiber type disproportion, Central core myopathy,
Malignant hyperthermia, susceptibility to, 1, Congenital multicore myopathy with external ophthalmoplegia, King Denborough syndrome
| Uncertain significance
(Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:39008109
- GRCh38:
- Chr19:38517469
| RYR1 | M3266L | RYR1-Related Disorders, not provided, Congenital myopathy with fiber type disproportion,
Central core myopathy, Malignant hyperthermia, susceptibility to, 1, Congenital multicore myopathy with external ophthalmoplegia,
King Denborough syndrome | Uncertain significance
(Sep 22, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38956912
- GRCh38:
- Chr19:38466272
| RYR1 | P1018A | Central core myopathy, Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia, susceptibility to, 1,
Congenital myopathy with fiber type disproportion, King Denborough syndrome, RYR1-Related Disorders,
not provided | Uncertain significance
(May 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:39063859
- GRCh38:
- Chr19:38573219
| RYR1 | K4676Q, K4681Q | Central core myopathy, Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia, susceptibility to, 1,
Congenital myopathy with fiber type disproportion, King Denborough syndrome, RYR1-Related Disorders
| Uncertain significance
(Nov 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38957024
- GRCh38:
- Chr19:38466384
| RYR1 | P1055R | Central core myopathy, Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia, susceptibility to, 1,
Congenital myopathy with fiber type disproportion, King Denborough syndrome, RYR1-Related Disorders
| Uncertain significance
(May 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38931500
- GRCh38:
- Chr19:38440860
| RYR1 | A54E | King Denborough syndrome, Central core myopathy, Congenital multicore myopathy with external ophthalmoplegia,
Malignant hyperthermia, susceptibility to, 1, Congenital myopathy with fiber type disproportion, RYR1-Related Disorders
| Uncertain significance
(Aug 26, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38945909
- GRCh38:
- Chr19:38455269
| LOC129391106, RYR1 | R492H | Malignant hyperthermia of anesthesia | Uncertain significance
(Apr 6, 2023) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr19:39071104
- GRCh38:
- Chr19:38580464
| RYR1 | D4864A, D4869A | Central core myopathy, Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia, susceptibility to, 1,
Congenital myopathy with fiber type disproportion, King Denborough syndrome, RYR1-Related Disorders,
not provided | Uncertain significance
(Jun 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:39062839
- GRCh38:
- Chr19:38572199
| RYR1 | A4643T, A4638T | Central core myopathy, Malignant hyperthermia, susceptibility to, 1, Congenital multicore myopathy with external ophthalmoplegia,
Congenital myopathy with fiber type disproportion, King Denborough syndrome, RYR1-Related Disorders,
not provided, Central core myopathy | Uncertain significance
(Jun 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:39019048
- GRCh38:
- Chr19:38528408
| RYR1 | N3643H, N3638H | Central core myopathy, Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia, susceptibility to, 1,
Congenital myopathy with fiber type disproportion, King Denborough syndrome, RYR1-Related Disorders
| Uncertain significance
(Jun 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:39025402
- GRCh38:
- Chr19:38534762
| RYR1 | R3763W, R3768W | Central core myopathy, Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia, susceptibility to, 1,
Congenital myopathy with fiber type disproportion, King Denborough syndrome, RYR1-Related Disorders,
not provided | Uncertain significance
(Sep 23, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:39055797
- GRCh38:
- Chr19:38565157
| RYR1 | A4270T, A4275T | Central core myopathy, Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia, susceptibility to, 1,
Congenital myopathy with fiber type disproportion, King Denborough syndrome, RYR1-Related Disorders,
not provided | Uncertain significance
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:39058477
- GRCh38:
- Chr19:38567837
| RYR1 | P4522S, P4527S | RYR1-Related Disorders, Central core myopathy, Malignant hyperthermia, susceptibility to, 1,
Congenital myopathy with fiber type disproportion, King Denborough syndrome, Congenital multicore myopathy with external ophthalmoplegia
| Uncertain significance
(Jul 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38948878
- GRCh38:
- Chr19:38458238
| RYR1 | G705R | Central core myopathy, Central core myopathy, Malignant hyperthermia, susceptibility to, 1,
Congenital myopathy with fiber type disproportion, King Denborough syndrome, Congenital multicore myopathy with external ophthalmoplegia
| Uncertain significance
(Aug 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38946107
- GRCh38:
- Chr19:38455467
| RYR1 | | RYR1-Related Disorders, Central core myopathy, Central core myopathy,
Malignant hyperthermia, susceptibility to, 1, Congenital myopathy with fiber type disproportion, King Denborough syndrome,
Congenital multicore myopathy with external ophthalmoplegia | Conflicting interpretations of pathogenicity
(Sep 7, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:38960046
- GRCh38:
- Chr19:38469406
| RYR1 | E1220K | Central core myopathy, Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia, susceptibility to, 1,
Congenital myopathy with fiber type disproportion, King Denborough syndrome, RYR1-Related Disorders
| Uncertain significance
(Aug 26, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:39002956
- GRCh38:
- Chr19:38512316
| RYR1 | D3102G | Malignant hyperthermia, susceptibility to, 1, Congenital multicore myopathy with external ophthalmoplegia, Congenital myopathy with fiber type disproportion,
Central core myopathy, King Denborough syndrome, RYR1-Related Disorders
| Uncertain significance
(Oct 29, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38990576
- GRCh38:
- Chr19:38499936
| RYR1 | R2415G | Malignant hyperthermia, susceptibility to, 1, Congenital multicore myopathy with external ophthalmoplegia, Congenital myopathy with fiber type disproportion,
Central core myopathy, King Denborough syndrome, RYR1-Related Disorders
| Uncertain significance
(Jul 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:39037100
- GRCh38:
- Chr19:38546460
| RYR1 | E4005K, E4010K | Malignant hyperthermia, susceptibility to, 1 | Uncertain significance
(Apr 6, 2023) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr19:38964317
- GRCh38:
- Chr19:38473677
| RYR1 | A1356T | not provided, Malignant hyperthermia, susceptibility to, 1, Congenital multicore myopathy with external ophthalmoplegia,
Congenital myopathy with fiber type disproportion, Central core myopathy, King Denborough syndrome,
RYR1-Related Disorders | Uncertain significance
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38990401
- GRCh38:
- Chr19:38499761
| RYR1 | R2385H | RYR1-Related Disorders, not provided, Malignant hyperthermia, susceptibility to, 1,
Congenital multicore myopathy with external ophthalmoplegia, Congenital myopathy with fiber type disproportion, King Denborough syndrome,
Central core myopathy | Uncertain significance
(Sep 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:39062844
- GRCh38:
- Chr19:38572204
| RYR1 | | RYR1-Related Disorders, Central core myopathy, Malignant hyperthermia, susceptibility to, 1,
King Denborough syndrome, Congenital multicore myopathy with external ophthalmoplegia, Congenital myopathy with fiber type disproportion
| Likely benign
(Aug 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:39055728
- GRCh38:
- Chr19:38565088
| RYR1 | E4247Q, E4252Q | RYR1-Related Disorders, Malignant hyperthermia, susceptibility to, 1, Congenital multicore myopathy with external ophthalmoplegia,
Congenital myopathy with fiber type disproportion, King Denborough syndrome, Central core myopathy
| Uncertain significance
(Oct 25, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:39002929
- GRCh38:
- Chr19:38512289
| RYR1 | R3093H | RYR1-related condition, Congenital myopathy with fiber type disproportion, Malignant hyperthermia, susceptibility to, 1,
King Denborough syndrome, Congenital multicore myopathy with external ophthalmoplegia, Central core myopathy,
not provided, RYR1-Related Disorders | Uncertain significance
(Jan 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:39071061
- GRCh38:
- Chr19:38580421
| RYR1 | V4850L, V4855L | RYR1-Related Disorders, Malignant hyperthermia, susceptibility to, 1, Congenital multicore myopathy with external ophthalmoplegia,
Congenital myopathy with fiber type disproportion, King Denborough syndrome, Central core myopathy,
not provided | Uncertain significance
(Oct 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38958286
- GRCh38:
- Chr19:38467646
| RYR1 | R1072H | RYR1-Related Disorders, Malignant hyperthermia, susceptibility to, 1, Congenital multicore myopathy with external ophthalmoplegia,
Congenital myopathy with fiber type disproportion, King Denborough syndrome, Central core myopathy
| Uncertain significance
(Oct 18, 2021) | criteria provided, multiple submitters, no conflicts |