| - GRCh37:
- Chr19:38924507
- GRCh38:
- Chr19:38433867
| RYR1 | L13R | Malignant hyperthermia, susceptibility to, 1 | Likely pathogenic
(Mar 14, 2022) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr19:38924515
- GRCh38:
- Chr19:38433875
| RYR1 | | RYR1-Related Disorders | Likely pathogenic
(Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38931384
- GRCh38:
- Chr19:38440744
| RYR1 | | See cases, RYR1-Related Disorders | Likely pathogenic
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38931436
- GRCh38:
- Chr19:38440796
| RYR1 | K33E | Malignant hyperthermia, susceptibility to, 1 | Likely pathogenic
(Mar 18, 2021) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr19:38931442
- GRCh38:
- Chr19:38440802
| RYR1 | C35R | Malignant hyperthermia, susceptibility to, 1, enflurane response - Toxicity, desflurane response - Toxicity,
succinylcholine response - Toxicity, sevoflurane response - Toxicity, methoxyflurane response - Toxicity,
isoflurane response - Toxicity, halothane response - Toxicity | Pathogenic; drug response
(Mar 24, 2021) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr19:38931469
- GRCh38:
- Chr19:38440829
| RYR1 | R44C | Malignant hyperthermia, susceptibility to, 1, halothane response - Toxicity, enflurane response - Toxicity,
desflurane response - Toxicity, succinylcholine response - Toxicity, sevoflurane response - Toxicity,
methoxyflurane response - Toxicity, isoflurane response - Toxicity | Likely pathogenic; drug response
(Mar 24, 2021) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr19:38931502
- GRCh38:
- Chr19:38440862
| RYR1 | Q55* | RYR1-Related Disorders | Pathogenic
(Feb 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38932994-38932995
- GRCh38:
- Chr19:38442354-38442355
| RYR1 | D60fs | Congenital multicore myopathy with external ophthalmoplegia, RYR1-Related Disorders | Pathogenic/Likely pathogenic
(Dec 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38933002
- GRCh38:
- Chr19:38442362
| RYR1 | D60G | Rhabdomyolysis | Likely pathogenic
(Aug 5, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr19:38933031
- GRCh38:
- Chr19:38442391
| RYR1 | Q70* | RYR1-Related Disorders, not provided, Central core myopathy,
Malignant hyperthermia, susceptibility to, 1, Congenital multicore myopathy with external ophthalmoplegia, King Denborough syndrome,
Central core myopathy, Congenital myopathy with fiber type disproportion | Pathogenic
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38933046
- GRCh38:
- Chr19:38442406
| RYR1 | R75* | RYR1-Related Disorders | Pathogenic
(Jun 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38934252
- GRCh38:
- Chr19:38443612
| RYR1 | R109W | RYR1-Related Disorders, not provided, Congenital myopathy with fiber type disproportion,
King Denborough syndrome, Central core myopathy, Congenital myopathy with fiber type disproportion,
Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia, susceptibility to, 1 | Pathogenic/Likely pathogenic
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38934438
- GRCh38:
- Chr19:38443798
| RYR1 | | not provided | Likely pathogenic
(Feb 20, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38934827
- GRCh38:
- Chr19:38444187
| RYR1 | Q155K | Malignant hyperthermia, susceptibility to, 1 | Likely pathogenic
(Mar 18, 2021) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr19:38934851
- GRCh38:
- Chr19:38444211
| RYR1 | R163C | Malignant hyperthermia, susceptibility to, 1, succinylcholine response - Toxicity, sevoflurane response - Toxicity,
methoxyflurane response - Toxicity, isoflurane response - Toxicity, halothane response - Toxicity,
enflurane response - Toxicity, desflurane response - Toxicity | Pathogenic; drug response
(Mar 29, 2022) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr19:38934852
- GRCh38:
- Chr19:38444212
| RYR1 | R163L | Malignant hyperthermia, susceptibility to, 1 | Likely pathogenic
(Mar 18, 2021) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr19:38934893
- GRCh38:
- Chr19:38444253
| RYR1 | R177C | Malignant hyperthermia, susceptibility to, 1 | Pathogenic
(Mar 16, 2021) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr19:38934897
- GRCh38:
- Chr19:38444257
| RYR1 | Y178C | Malignant hyperthermia of anesthesia | Likely pathogenic
(Jan 3, 2022) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr19:38935318
- GRCh38:
- Chr19:38444678
| RYR1 | | not provided | Pathogenic
(Jan 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38937124
- GRCh38:
- Chr19:38446484
| RYR1 | G215E | Central core myopathy | Pathogenic
(May 11, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr19:38937165
- GRCh38:
- Chr19:38446525
| RYR1 | C229R | Congenital multicore myopathy with external ophthalmoplegia | Likely pathogenic
(Jun 7, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38937350
- GRCh38:
- Chr19:38446710
| RYR1 | G248W | RYR1-Related Disorders | Likely pathogenic
(Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38937350
- GRCh38:
- Chr19:38446710
| RYR1 | G248R | Malignant hyperthermia, susceptibility to, 1 | Pathogenic
(Sep 8, 2022) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr19:38937350
- GRCh38:
- Chr19:38446710
| RYR1 | G248R | Malignant hyperthermia, susceptibility to, 1 | Likely pathogenic
(Jul 11, 2022) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr19:38937392
- GRCh38:
- Chr19:38446752
| RYR1 | E262* | not provided | Pathogenic
(Oct 10, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38939032
- GRCh38:
- Chr19:38448392
| RYR1 | R280* | Central core myopathy | Pathogenic
(Aug 29, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38939042
- GRCh38:
- Chr19:38448402
| RYR1 | H283R | RYR1-Related Disorders | Pathogenic
(Aug 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38939061
- GRCh38:
- Chr19:38448421
| RYR1 | Y289* | RYR1-Related Disorders | Pathogenic
(Aug 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38939312-38939313
- GRCh38:
- Chr19:38448672-38448673
| RYR1 | R328fs | RYR1-Related Disorders | Pathogenic
(Jan 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38939313
- GRCh38:
- Chr19:38448673
| RYR1 | R328W | Malignant hyperthermia, susceptibility to, 1 | Likely pathogenic
(Mar 17, 2021) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr19:38939352
- GRCh38:
- Chr19:38448712
| RYR1 | G341R | Malignant hyperthermia, susceptibility to, 1 | Pathogenic
(Mar 14, 2022) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr19:38939352
- GRCh38:
- Chr19:38448712
| RYR1 | G341R | Malignant hyperthermia, susceptibility to, 1 | Pathogenic
(Mar 18, 2021) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr19:38942467
- GRCh38:
- Chr19:38451827
| RYR1 | E396K | Respiratory insufficiency, Congenital muscular dystrophy, Myopathy
| Likely pathogenic
(May 21, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38942482
- GRCh38:
- Chr19:38451842
| RYR1 | R401C | Malignant hyperthermia, susceptibility to, 1 | Pathogenic
(Mar 29, 2022) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr19:38942483
- GRCh38:
- Chr19:38451843
| RYR1 | R401L | Malignant hyperthermia, susceptibility to, 1 | Likely pathogenic
(Mar 14, 2022) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr19:38942483
- GRCh38:
- Chr19:38451843
| RYR1 | R401H | Malignant hyperthermia, susceptibility to, 1 | Pathogenic
(Mar 18, 2021) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr19:38942486
- GRCh38:
- Chr19:38451846
| RYR1 | M402T | Central core myopathy | Pathogenic
(May 11, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr19:38942498
- GRCh38:
- Chr19:38451858
| RYR1 | N407fs | RYR1-Related Disorders | Pathogenic
(Feb 4, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38943476-38943477
- GRCh38:
- Chr19:38452836-38452837
| RYR1 | G426fs | RYR1-Related Disorders, not provided | Pathogenic
(Nov 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38943494
- GRCh38:
- Chr19:38452854
| RYR1 | S427L | Central core myopathy | Pathogenic
(May 11, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr19:38943498-38943499
- GRCh38:
- Chr19:38452858-38452859
| RYR1 | P430fs | RYR1-Related Disorders | Pathogenic
(Apr 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38943501-38943502
- GRCh38:
- Chr19:38452861-38452862
| RYR1 | A431fs | RYR1-Related Disorders | Pathogenic
(Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38943556
- GRCh38:
- Chr19:38452916
| RYR1 | I448F | RYR1-Related Disorders | Pathogenic
(Sep 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38943595
- GRCh38:
- Chr19:38452955
| RYR1 | E461* | RYR1-Related Disorders | Pathogenic
(Dec 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38943635
- GRCh38:
- Chr19:38452995
| RYR1 | Q474L | Malignant hyperthermia, susceptibility to, 1 | Likely pathogenic
(May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38943647-38943649
- GRCh38:
- Chr19:38453007-38453009
| RYR1 | | not provided | Pathogenic
(Feb 17, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38943655
- GRCh38:
- Chr19:38453015
| RYR1 | | RYR1-Related Disorders | Likely pathogenic
(Jan 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38945976
- GRCh38:
- Chr19:38455336
| RYR1 | W514* | not provided | Pathogenic
(Jan 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38945999
- GRCh38:
- Chr19:38455359
| RYR1 | Y522C | Malignant hyperthermia, susceptibility to, 1 | Likely pathogenic
(May 1, 2022) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr19:38945999
- GRCh38:
- Chr19:38455359
| RYR1 | Y522S | Malignant hyperthermia, susceptibility to, 1, succinylcholine response - Toxicity, sevoflurane response - Toxicity,
methoxyflurane response - Toxicity, isoflurane response - Toxicity, halothane response - Toxicity,
enflurane response - Toxicity, desflurane response - Toxicity | Pathogenic; drug response
(Mar 24, 2021) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr19:38946011
- GRCh38:
- Chr19:38455371
| RYR1 | | RYR1-Related Disorders | Likely pathogenic
(Jul 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38946102
- GRCh38:
- Chr19:38455462
| RYR1 | R530S | RYR1-Related Disorders | Likely pathogenic
(Aug 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38946111
- GRCh38:
- Chr19:38455471
| RYR1 | R533C | Malignant hyperthermia, susceptibility to, 1 | Pathogenic
(Mar 17, 2021) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr19:38946129
- GRCh38:
- Chr19:38455489
| RYR1 | F539V | Malignant hyperthermia of anesthesia | Likely pathogenic
(Mar 14, 2022) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr19:38946129
- GRCh38:
- Chr19:38455489
| RYR1 | F539L | Malignant hyperthermia, susceptibility to, 1 | Likely pathogenic
(Aug 26, 2021) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr19:38946144
- GRCh38:
- Chr19:38455504
| RYR1 | D544Y | Malignant hyperthermia, susceptibility to, 1 | Likely pathogenic
(Aug 26, 2021) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr19:38946168
- GRCh38:
- Chr19:38455528
| RYR1 | R552W | Malignant hyperthermia, susceptibility to, 1, enflurane response - Toxicity, desflurane response - Toxicity,
succinylcholine response - Toxicity, sevoflurane response - Toxicity, methoxyflurane response - Toxicity,
isoflurane response - Toxicity, halothane response - Toxicity | Likely pathogenic; drug response
(Mar 29, 2022) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr19:38946184
- GRCh38:
- Chr19:38455544
| RYR1 | S557F | RYR1-Related Disorders | Pathogenic
(Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38946274-38946275
- GRCh38:
- Chr19:38455634-38455635
| RYR1 | I559fs | Congenital myopathy with fiber type disproportion | Pathogenic
(Apr 11, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38946337-38946338
- GRCh38:
- Chr19:38455697-38455698
| RYR1 | H581fs | not provided | Pathogenic
(Apr 20, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38948180
- GRCh38:
- Chr19:38457540
| RYR1 | A612D | Arthrogryposis multiplex congenita, Fetal akinesia deformation sequence 1 | Likely pathogenic
(Jun 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38948185
- GRCh38:
- Chr19:38457545
| RYR1 | R614G | RYR1-Related Disorders | Likely pathogenic
(Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38948185
- GRCh38:
- Chr19:38457545
| RYR1 | R614C | Malignant hyperthermia, susceptibility to, 1, succinylcholine response - Toxicity, sevoflurane response - Toxicity,
methoxyflurane response - Toxicity, isoflurane response - Toxicity, halothane response - Toxicity,
enflurane response - Toxicity, desflurane response - Toxicity | Pathogenic; drug response
(Mar 24, 2021) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr19:38948186
- GRCh38:
- Chr19:38457546
| RYR1 | R614H | RYR1-Related Disorders, not provided, Malignant hyperthermia, susceptibility to, 1
| Likely pathogenic
(Jan 4, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38948186
- GRCh38:
- Chr19:38457546
| RYR1 | R614L | Malignant hyperthermia, susceptibility to, 1, halothane response - Toxicity, enflurane response - Toxicity,
desflurane response - Toxicity, succinylcholine response - Toxicity, sevoflurane response - Toxicity,
methoxyflurane response - Toxicity, isoflurane response - Toxicity | Pathogenic; drug response
(Mar 24, 2021) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr19:38948220-38948224
- GRCh38:
- Chr19:38457580-38457584
| RYR1 | | Myopathy | Pathogenic
(Apr 23, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38948234
- GRCh38:
- Chr19:38457594
| RYR1 | L631fs | not provided | Pathogenic
(Aug 30, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38948246
- GRCh38:
- Chr19:38457606
| RYR1 | T634R | not provided | Likely pathogenic
(Feb 8, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38948716
- GRCh38:
- Chr19:38458076
| RYR1 | R651* | not provided, RYR1-Related Disorders, Central core myopathy
| Pathogenic/Likely pathogenic
(Mar 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38948747
- GRCh38:
- Chr19:38458107
| RYR1 | W661* | not provided | Pathogenic
(Mar 28, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38948748
- GRCh38:
- Chr19:38458108
| RYR1 | W661* | RYR1-Related Disorders, not provided, Congenital multicore myopathy with external ophthalmoplegia,
King Denborough syndrome, Central core myopathy, Malignant hyperthermia, susceptibility to, 1,
Congenital myopathy with fiber type disproportion | Pathogenic
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38948755
- GRCh38:
- Chr19:38458115
| RYR1 | E664Q | Distal arthrogryposis | Likely pathogenic
(Jan 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38948757
- GRCh38:
- Chr19:38458117
| RYR1 | | not provided | Likely pathogenic
(Aug 19, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38948770
- GRCh38:
- Chr19:38458130
| RYR1 | E669* | RYR1-Related Disorders | Pathogenic
(Aug 29, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38948794
- GRCh38:
- Chr19:38458154
| RYR1 | Q677* | not provided, Malignant hyperthermia, susceptibility to, 1, Congenital multicore myopathy with external ophthalmoplegia,
Central core myopathy, King Denborough syndrome, Congenital myopathy with fiber type disproportion,
RYR1-Related Disorders | Pathogenic
(Feb 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38948809
- GRCh38:
- Chr19:38458169
| RYR1 | R682G | Centronuclear myopathy | Likely pathogenic
(Apr 11, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38948824-38948825
- GRCh38:
- Chr19:38458184-38458185
| RYR1 | L687fs | RYR1-Related Disorders | Pathogenic
(Feb 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38948856-38948882
- GRCh38:
- Chr19:38458216-38458242
| RYR1 | | Congenital multicore myopathy with external ophthalmoplegia | Pathogenic
(Dec 5, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr19:38948932
- GRCh38:
- Chr19:38458292
| RYR1 | G723R | Arthrogryposis multiplex congenita, Fetal akinesia deformation sequence 1 | Likely pathogenic
(Jun 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38949785
- GRCh38:
- Chr19:38459145
| RYR1 | | Central core myopathy | Likely pathogenic
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38949810
- GRCh38:
- Chr19:38459170
| RYR1 | P732fs | not provided | Likely pathogenic
(Aug 19, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38949901
- GRCh38:
- Chr19:38459261
| RYR1 | V763fs | Hydrops fetalis | Likely pathogenic
(Oct 16, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38949908
- GRCh38:
- Chr19:38459268
| RYR1 | Q764* | RYR1-Related Disorders, Central core myopathy | Pathogenic/Likely pathogenic
(Apr 22, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38949955-38949956
- GRCh38:
- Chr19:38459315-38459316
| RYR1 | V780fs | Congenital myopathy with fiber type disproportion | Likely pathogenic
(Jan 1, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38951014
- GRCh38:
- Chr19:38460374
| RYR1 | | not provided | Likely pathogenic
(Mar 8, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38951074-38951075
- GRCh38:
- Chr19:38460434-38460435
| RYR1 | P816fs | RYR1-Related Disorders | Pathogenic
(Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38951103
- GRCh38:
- Chr19:38460463
| RYR1 | R817* | RYR1-Related Disorders | Pathogenic
(Apr 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38951139
- GRCh38:
- Chr19:38460499
| RYR1 | R829* | RYR1-Related Disorders | Pathogenic
(Jan 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38951153-38951154
- GRCh38:
- Chr19:38460513-38460514
| RYR1 | P836fs | Arthrogryposis multiplex congenita, Fetal akinesia deformation sequence 1 | Pathogenic
(Jun 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38951229
- GRCh38:
- Chr19:38460589
| RYR1 | Q859* | not provided | Likely pathogenic
(Jul 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38951232
- GRCh38:
- Chr19:38460592
| RYR1 | | RYR1-Related Disorders | Pathogenic
(Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38954068-38954071
- GRCh38:
- Chr19:38463428-38463431
| RYR1 | P863fs | not provided | Pathogenic
(Feb 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38954386
- GRCh38:
- Chr19:38463746
| RYR1 | | not provided, RYR1-Related Disorders | Pathogenic/Likely pathogenic
(Mar 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38954410
- GRCh38:
- Chr19:38463770
| RYR1 | H903fs | not provided | Likely pathogenic
(Sep 7, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38954492
- GRCh38:
- Chr19:38463852
| RYR1 | | RYR1-Related Disorders | Likely pathogenic
(Feb 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38955281-38955282
- GRCh38:
- Chr19:38464641-38464642
| RYR1 | L931fs | RYR1-Related Disorders | Pathogenic
(May 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38955284
- GRCh38:
- Chr19:38464644
| RYR1 | L931P | RYR1-related myopathy | Likely pathogenic
(Feb 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38955328
- GRCh38:
- Chr19:38464688
| RYR1 | E946* | RYR1-Related Disorders, Malignant hyperthermia of anesthesia | Pathogenic/Likely pathogenic
(Dec 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38955363
- GRCh38:
- Chr19:38464723
| RYR1 | | RYR1-Related Disorders | Pathogenic
(Mar 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38955363
- GRCh38:
- Chr19:38464723
| RYR1 | | RYR1-Related Disorders, not provided | Pathogenic/Likely pathogenic
(May 17, 2022) | criteria provided, multiple submitters, no conflicts |