U.S. flag

An official website of the United States government

Display optionsSort by RelevanceDownload
Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 1121

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr19:39056387
GRCh38:
Chr19:38565747
RYR1I4468fs, I4473fsMalignant hyperthermia, susceptibility to, 1Likely pathogenic
(Nov 24, 2023)		no assertion criteria provided
2.
GRCh37:
Chr19:38991298
GRCh38:
Chr19:38500658
RYR1S2459FMalignant hyperthermia, susceptibility to, 1Uncertain significance
(Nov 9, 2023)		criteria provided, single submitter
3.
GRCh37:
Chr19:39034444
Chr19:38995979-38995980
GRCh38:
Chr19:38543804
Chr19:38505339-38505340
RYR1, LOC126862902, RYR1H3976Y, I2781fsCongenital multicore myopathy with external ophthalmoplegiaPathogenic
(Nov 1, 2010)		no assertion criteria provided
4.
GRCh37:
Chr19:38969170
GRCh38:
Chr19:38478530
RYR1C1517YMalignant hyperthermia, susceptibility to, 1Uncertain significance
(Feb 27, 2023)		criteria provided, single submitter
5.
GRCh37:
Chr19:38955264
GRCh38:
Chr19:38464624
RYR1Malignant hyperthermia, susceptibility to, 1Uncertain significance
(Apr 26, 2023)		criteria provided, single submitter
6.
Congenital multicore myopathy with external ophthalmoplegiaLikely pathogenic
(Aug 8, 2023)		criteria provided, single submitter
7.
GRCh37:
Chr19:38976501
GRCh38:
Chr19:38485861
RYR1P1736SMalignant hyperthermia, susceptibility to, 1Uncertain significancecriteria provided, single submitter
8.
GRCh37:
Chr19:38966023
GRCh38:
Chr19:38475383
RYR1R1409QMalignant hyperthermia, susceptibility to, 1Uncertain significance
(Mar 6, 2022)		criteria provided, single submitter
9.
GRCh37:
Chr19:39009953
GRCh38:
Chr19:38519313
RYR1V3373GMalignant hyperthermia, susceptibility to, 1Uncertain significance
(Jul 6, 2022)		criteria provided, single submitter
10.
GRCh37:
Chr19:38933059
GRCh38:
Chr19:38442419
RYR1E79VMalignant hyperthermia, susceptibility to, 1Uncertain significance
(May 17, 2022)		criteria provided, single submitter
11.
GRCh37:
Chr19:38964266
GRCh38:
Chr19:38473626
RYR1G1340fsMalignant hyperthermia, susceptibility to, 1Likely pathogenic
(Feb 1, 2013)		criteria provided, single submitter
12.
GRCh37:
Chr19:39077164
GRCh38:
Chr19:38586524
RYR1Malignant hyperthermia, susceptibility to, 1Likely pathogenic
(Feb 1, 2013)		criteria provided, single submitter
13.
GRCh37:
Chr19:38943635
GRCh38:
Chr19:38452995
RYR1Q474LMalignant hyperthermia, susceptibility to, 1Likely pathogenic
(May 27, 2022)		criteria provided, single submitter
14.
GRCh37:
Chr19:38937120
GRCh38:
Chr19:38446480
RYR1T214AMalignant 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
15.
GRCh37:
Chr19:38948289
GRCh38:
Chr19:38457649
RYR1RYR1-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
16.
GRCh37:
Chr19:39019647
GRCh38:
Chr19:38529007
RYR1RYR1-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
17.
GRCh37:
Chr19:39037067
GRCh38:
Chr19:38546427
RYR1RYR1-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
18.
GRCh37:
Chr19:39055787
GRCh38:
Chr19:38565147
RYR1RYR1-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
19.
GRCh37:
Chr19:39008323
GRCh38:
Chr19:38517683
RYR1R3337QRYR1-Related Disorders, Malignant hyperthermia, susceptibility to, 1Uncertain significance
(Aug 31, 2022)		criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr19:38974075
GRCh38:
Chr19:38483435
RYR1R1618HRYR1-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
21.
GRCh37:
Chr19:39056142
GRCh38:
Chr19:38565502
RYR1E4385K, E4390KRYR1-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
22.
GRCh37:
Chr19:38990286
GRCh38:
Chr19:38499646
RYR1E2347KRYR1-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
23.
GRCh37:
Chr19:38966055
GRCh38:
Chr19:38475415
RYR1R1420Cnot 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
24.
GRCh37:
Chr19:38956984
GRCh38:
Chr19:38466344
RYR1V1042MRYR1-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
25.
GRCh37:
Chr19:39056425
GRCh38:
Chr19:38565785
RYR1RYR1-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
26.
GRCh37:
Chr19:39008202
GRCh38:
Chr19:38517562
RYR1P3297SRYR1-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
27.
GRCh37:
Chr19:38993160
GRCh38:
Chr19:38502520
RYR1T2543IRYR1-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
28.
GRCh37:
Chr19:39016011
GRCh38:
Chr19:38525371
RYR1R3499W, R3494WRYR1-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
29.
GRCh37:
Chr19:38976583
GRCh38:
Chr19:38485943
RYR1P1763LRYR1-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
30.
GRCh37:
Chr19:38939019
GRCh38:
Chr19:38448379
RYR1W275CRYR1-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
31.
GRCh37:
Chr19:39066557
GRCh38:
Chr19:38575917
RYR1not 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
32.
GRCh37:
Chr19:39056175
GRCh38:
Chr19:38565535
RYR1G4396R, G4401RInborn 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
33.
GRCh37:
Chr19:39051784
GRCh38:
Chr19:38561144
RYR1P4105R, P4100RCentral 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
34.
GRCh37:
Chr19:38980792
GRCh38:
Chr19:38490152
RYR1R1964HInborn 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
35.
GRCh37:
Chr19:39016005
GRCh38:
Chr19:38525365
RYR1K3492Q, K3497QCentral 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
36.
GRCh37:
Chr19:38976445
GRCh38:
Chr19:38485805
RYR1I1717SCentral 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
37.
GRCh37:
Chr19:38939445-38939447
GRCh38:
Chr19:38448805-38448807
RYR1K374delRYR1-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
38.
GRCh37:
Chr19:38964077
GRCh38:
Chr19:38473437
RYR1W1276RRYR1-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
39.
GRCh37:
Chr19:38973719-38973720
GRCh38:
Chr19:38483079-38483080
RYR1N1559fsRYR1-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
40.
GRCh37:
Chr19:38939316
GRCh38:
Chr19:38448676
RYR1D329NRYR1-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
41.
GRCh37:
Chr19:39062686
GRCh38:
Chr19:38572046
RYR1D4587N, D4592NRYR1-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
42.
GRCh37:
Chr19:39001306
GRCh38:
Chr19:38510666
RYR1L3003FRYR1-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
43.
GRCh37:
Chr19:38979876
GRCh38:
Chr19:38489236
RYR1E1869DRYR1-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
44.
GRCh37:
Chr19:39056253
GRCh38:
Chr19:38565613
LOC130064357, RYR1H4422Y, H4427YRYR1-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
45.
GRCh37:
Chr19:38976679
GRCh38:
Chr19:38486039
RYR1P1795LRYR1-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
46.
GRCh37:
Chr19:38987563
GRCh38:
Chr19:38496923
RYR1A2287DRYR1-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
47.
GRCh37:
Chr19:38993325
GRCh38:
Chr19:38502685
RYR1A2598GRYR1-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
48.
GRCh37:
Chr19:39055809-39055810
GRCh38:
Chr19:38565169-38565170
RYR1King 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
49.
GRCh37:
Chr19:39051780
GRCh38:
Chr19:38561140
RYR1G4099S, G4104SKing 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
50.
GRCh37:
Chr19:38948732
GRCh38:
Chr19:38458092
RYR1T656MRYR1-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
51.
GRCh37:
Chr19:39013726
GRCh38:
Chr19:38523086
RYR1E3440KRYR1-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
52.
GRCh37:
Chr19:38948839
GRCh38:
Chr19:38458199
RYR1T692ARYR1-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
53.
GRCh37:
Chr19:38973679
GRCh38:
Chr19:38483039
RYR1T1545ARYR1-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
54.
GRCh37:
Chr19:39052055
GRCh38:
Chr19:38561415
RYR1E4190D, E4195DRYR1-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
55.
GRCh37:
Chr19:38990400
GRCh38:
Chr19:38499760
RYR1R2385CRYR1-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
56.
GRCh37:
Chr19:38939141
GRCh38:
Chr19:38448501
RYR1R316HRYR1-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
57.
GRCh37:
Chr19:39052069
GRCh38:
Chr19:38561429
RYR1N4200I, N4195IRYR1-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
58.
GRCh37:
Chr19:38956916
GRCh38:
Chr19:38466276
RYR1R1019QRYR1-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
59.
GRCh37:
Chr19:39055999-39056000
GRCh38:
Chr19:38565359-38565360
RYR1RYR1-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
60.
GRCh37:
Chr19:39056142
GRCh38:
Chr19:38565502
RYR1E4385Q, E4390QRYR1-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
61.
GRCh37:
Chr19:39008044
GRCh38:
Chr19:38517404
RYR1P3244LRYR1-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
62.
GRCh37:
Chr19:38958442
GRCh38:
Chr19:38467802
RYR1N1124SRYR1-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
63.
GRCh37:
Chr19:39058463
GRCh38:
Chr19:38567823
RYR1P4517H, P4522HCongenital 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
64.
GRCh37:
Chr19:39055820
GRCh38:
Chr19:38565180
RYR1RYR1-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
65.
GRCh37:
Chr19:39070706
GRCh38:
Chr19:38580066
RYR1I4812V, I4817Vnot 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
66.
GRCh37:
Chr19:39068845
GRCh38:
Chr19:38578205
RYR1Malignant hyperthermia of anesthesiaUncertain significance
(Jan 3, 2022)		reviewed by expert panel
FDA Recognized Database
67.
GRCh37:
Chr19:39008181
GRCh38:
Chr19:38517541
RYR1E3290KMalignant hyperthermia of anesthesiaUncertain significance
(Apr 6, 2023)		reviewed by expert panel
FDA Recognized Database
68.
GRCh37:
Chr19:38990359
GRCh38:
Chr19:38499719
RYR1E2371GMalignant hyperthermia, susceptibility to, 1Uncertain significance
(Apr 6, 2023)		reviewed by expert panel
FDA Recognized Database
69.
GRCh37:
Chr19:38994987
GRCh38:
Chr19:38504347
RYR1S2685FMalignant hyperthermia of anesthesiaUncertain significance
(Apr 6, 2023)		reviewed by expert panel
FDA Recognized Database
70.
GRCh37:
Chr19:38956858
GRCh38:
Chr19:38466218
RYR1V1000Mnot 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
71.
GRCh37:
Chr19:38937345
GRCh38:
Chr19:38446705
RYR1Y246Cnot 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
72.
GRCh37:
Chr19:39062797
GRCh38:
Chr19:38572157
RYR1V4624M, V4629Mnot 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
73.
GRCh37:
Chr19:39055884
GRCh38:
Chr19:38565244
RYR1A4299T, A4304TCongenital 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
74.
GRCh37:
Chr19:38985265
GRCh38:
Chr19:38494625
RYR1G2183EMalignant hyperthermia, susceptibility to, 1Uncertain significance
(Apr 6, 2023)		reviewed by expert panel
FDA Recognized Database
75.
GRCh37:
Chr19:38976328
GRCh38:
Chr19:38485688
RYR1N1678SMalignant hyperthermia, susceptibility to, 1Uncertain significance
(Apr 6, 2023)		reviewed by expert panel
FDA Recognized Database
76.
GRCh37:
Chr19:39051780
GRCh38:
Chr19:38561140
RYR1G4099R, G4104RMalignant hyperthermia, susceptibility to, 1Likely benign
(Mar 18, 2021)		reviewed by expert panel
FDA Recognized Database
77.
GRCh37:
Chr19:38933001
GRCh38:
Chr19:38442361
RYR1D60YMalignant hyperthermia, susceptibility to, 1Uncertain significance
(Apr 6, 2023)		reviewed by expert panel
FDA Recognized Database
78.
GRCh37:
Chr19:38942482
GRCh38:
Chr19:38451842
RYR1R401SMalignant hyperthermia, susceptibility to, 1Uncertain significance
(Apr 6, 2023)		reviewed by expert panel
FDA Recognized Database
79.
GRCh37:
Chr19:38948815
GRCh38:
Chr19:38458175
RYR1G684RMalignant hyperthermia, susceptibility to, 1Uncertain significance
(Apr 6, 2023)		reviewed by expert panel
FDA Recognized Database
80.
GRCh37:
Chr19:38990331
GRCh38:
Chr19:38499691
RYR1E2362KMalignant hyperthermia, susceptibility to, 1Likely pathogenic
(Apr 6, 2023)		reviewed by expert panel
FDA Recognized Database
81.
GRCh37:
Chr19:39076587
GRCh38:
Chr19:38585947
RYR1I4933T, I4938TMalignant hyperthermia, susceptibility to, 1Likely pathogenic
(Apr 6, 2023)		reviewed by expert panel
FDA Recognized Database
82.
GRCh37:
Chr19:38939355
GRCh38:
Chr19:38448715
RYR1E342KMalignant hyperthermia, susceptibility to, 1Uncertain significance
(Apr 6, 2023)		reviewed by expert panel
FDA Recognized Database
83.
GRCh37:
Chr19:39018350
GRCh38:
Chr19:38527710
RYR1E3579Q, E3584QMalignant hyperthermia, susceptibility to, 1Uncertain significance
(Apr 6, 2023)		reviewed by expert panel
FDA Recognized Database
84.
GRCh37:
Chr19:39019012
GRCh38:
Chr19:38528372
RYR1A3626S, A3631SMalignant hyperthermia, susceptibility to, 1Uncertain significance
(Apr 6, 2023)		reviewed by expert panel
FDA Recognized Database
85.
GRCh37:
Chr19:38990282
GRCh38:
Chr19:38499642
RYR1S2345RMalignant hyperthermia, susceptibility to, 1Likely pathogenic
(Apr 6, 2023)		reviewed by expert panel
FDA Recognized Database
86.
GRCh37:
Chr19:38981282
GRCh38:
Chr19:38490642
RYR1K2013QMalignant hyperthermia, susceptibility to, 1Uncertain significance
(Apr 6, 2023)		reviewed by expert panel
FDA Recognized Database
87.
GRCh37:
Chr19:39034020
GRCh38:
Chr19:38543380
RYR1N3903I, N3908IMalignant hyperthermia, susceptibility to, 1Uncertain significance
(Apr 6, 2023)		reviewed by expert panel
FDA Recognized Database
88.
GRCh37:
Chr19:39019642
GRCh38:
Chr19:38529002
RYR1D3691H, D3696HMalignant hyperthermia, susceptibility to, 1Uncertain significance
(Apr 6, 2023)		reviewed by expert panel
FDA Recognized Database
89.
GRCh37:
Chr19:38991277
GRCh38:
Chr19:38500637
RYR1R2452PMalignant hyperthermia, susceptibility to, 1Uncertain significance
(Apr 6, 2023)		reviewed by expert panel
FDA Recognized Database
90.
GRCh37:
Chr19:39038893
GRCh38:
Chr19:38548253
RYR1I4034F, I4039FMalignant hyperthermia, susceptibility to, 1Uncertain significance
(Apr 6, 2023)		reviewed by expert panel
FDA Recognized Database
91.
GRCh37:
Chr19:39010072
GRCh38:
Chr19:38519432
RYR1I3413FMalignant hyperthermia, susceptibility to, 1Uncertain significance
(Apr 6, 2023)		reviewed by expert panel
FDA Recognized Database
92.
GRCh37:
Chr19:39051853
GRCh38:
Chr19:38561213
RYR1A4123V, A4128VMalignant hyperthermia, susceptibility to, 1Uncertain significance
(Apr 6, 2023)		reviewed by expert panel
FDA Recognized Database
93.
GRCh37:
Chr19:38957026
GRCh38:
Chr19:38466386
RYR1D1056NMalignant hyperthermia, susceptibility to, 1Uncertain significance
(Apr 6, 2023)		reviewed by expert panel
FDA Recognized Database
94.
GRCh37:
Chr19:38960044
GRCh38:
Chr19:38469404
RYR1Q1219PMalignant hyperthermia, susceptibility to, 1Uncertain significance
(Apr 6, 2023)		reviewed by expert panel
FDA Recognized Database
95.
GRCh37:
Chr19:38985021
GRCh38:
Chr19:38494381
RYR1V2102LMalignant hyperthermia, susceptibility to, 1Uncertain significance
(Apr 6, 2023)		reviewed by expert panel
FDA Recognized Database
96.
GRCh37:
Chr19:38931458
GRCh38:
Chr19:38440818
RYR1G40AMalignant hyperthermia, susceptibility to, 1Uncertain significance
(Apr 6, 2023)		reviewed by expert panel
FDA Recognized Database
97.
GRCh37:
Chr19:39010064
GRCh38:
Chr19:38519424
RYR1P3410QMalignant hyperthermia, susceptibility to, 1Uncertain significance
(Apr 6, 2023)		reviewed by expert panel
FDA Recognized Database
98.
GRCh37:
Chr19:39010087
GRCh38:
Chr19:38519447
RYR1N3418DMalignant hyperthermia, susceptibility to, 1Uncertain significance
(Apr 6, 2023)		reviewed by expert panel
FDA Recognized Database
99.
GRCh37:
Chr19:38942425
GRCh38:
Chr19:38451785
RYR1H382NMalignant hyperthermia, susceptibility to, 1Uncertain significance
(Apr 6, 2023)		reviewed by expert panel
FDA Recognized Database
100.
GRCh37:
Chr19:38990625
GRCh38:
Chr19:38499985
RYR1D2431VMalignant hyperthermia, susceptibility to, 1Uncertain significance
(Apr 6, 2023)		reviewed by expert panel
FDA Recognized Database
Display optionsSort by RelevanceDownload
Format
Items per page
Sort by
Choose Destination