The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

Keyword Search Parameters

Keyword(s): Malignant Hyperthermia Susceptibility VCEP
In any of these fields: Expert Panel

CA023827
ClinVar Variation ID: 12969
Gene: RYR1
Uuid: 9fd209aa-12fb-400e-9b0f-37a7981de6b7
NM_000540.3:c.1021G>A
NC_000019.10:g.38448712G>A
CM000681.2:g.38448712G>A
NC_000019.9:g.38939352G>A
CM000681.1:g.38939352G>A
NC_000019.8:g.43631192G>A
NG_008866.1:g.20013G>A
Malignant hyperthermia, susceptibility to, 1
(MONDO:0007783 )
Criteria Specification: ACMG variant classification Malignant Hyperthermia
Expert Panel(s)
Malignant Hyperthermia Susceptibility VCEP
Codes: PP1_Strong, PS4, BS2_Supporting, PS3_Moderate, PM1, PP3_Moderate
Pathogenic

Evidence Links 1

CA024286
ClinVar Variation ID: 12993
Gene: RYR1
Uuid: 3dabd68e-7090-43d8-9cbb-77ae98ef977d
NM_000540.3:c.1565A>C
NC_000019.10:g.38455359A>C
CM000681.2:g.38455359A>C
NC_000019.9:g.38945999A>C
CM000681.1:g.38945999A>C
NC_000019.8:g.43637839A>C
NG_008866.1:g.26660A>C
Malignant hyperthermia, susceptibility to, 1
(MONDO:0007783 )
Criteria Specification: ACMG variant classification Malignant Hyperthermia
Expert Panel(s)
Malignant Hyperthermia Susceptibility VCEP
Codes: PS4_Supporting, PS3, PP1, PM1, PP3_Moderate
Pathogenic

Evidence Links 0

CA024291
ClinVar Variation ID: 133101
Gene: RYR1
Uuid: b2d64c99-6605-44ae-9a75-e8558a4e6604
NM_000540.3:c.1589G>A
NC_000019.10:g.38455463G>A
CM000681.2:g.38455463G>A
NC_000019.9:g.38946103G>A
CM000681.1:g.38946103G>A
NC_000019.8:g.43637943G>A
NG_008866.1:g.26764G>A
Malignant hyperthermia, susceptibility to, 1
(MONDO:0007783 )
Criteria Specification: ACMG variant classification Malignant Hyperthermia
Expert Panel(s)
Malignant Hyperthermia Susceptibility VCEP
Codes: PS4_Supporting, PM1, PP3_Moderate
Uncertain Significance

Evidence Links 0

CA024313
ClinVar Variation ID: 133108
Gene: RYR1
Uuid: 2d50f12d-53e1-4c3b-bea8-d307ab18043a
NM_000540.2:c.1841G>T
NC_000019.10:g.38457546G>T
CM000681.2:g.38457546G>T
NC_000019.9:g.38948186G>T
CM000681.1:g.38948186G>T
NC_000019.8:g.43640026G>T
NG_008866.1:g.28847G>T
Malignant hyperthermia, susceptibility to, 1
(MONDO:0007783 )
Criteria Specification: ACMG variant classification Malignant Hyperthermia
Expert Panel(s)
Malignant Hyperthermia Susceptibility VCEP
Codes: PP1_Strong, PS4, PS3_Moderate, PP3_Moderate
Pathogenic

Evidence Links 0

CA024738
ClinVar Variation ID: 133193
Gene: RYR1
Uuid: 71f30d49-8f4a-4a8f-a46b-a734f533e8ea
NM_000540.3:c.7282G>A
NC_000019.10:g.38499975G>A
CM000681.2:g.38499975G>A
NC_000019.9:g.38990615G>A
CM000681.1:g.38990615G>A
NC_000019.8:g.43682455G>A
NG_008866.1:g.71276G>A
Malignant hyperthermia, susceptibility to, 1
(MONDO:0007783 )
Criteria Specification: ACMG variant classification Malignant Hyperthermia
Expert Panel(s)
Malignant Hyperthermia Susceptibility VCEP
Codes: PS4_Moderate, PS3_Moderate, PM1, PP3_Moderate
Likely Pathogenic

Evidence Links 0

CA024821
ClinVar Variation ID: 133207
Gene: RYR1
Uuid: ce19f094-cfc2-42ea-8bdd-0373e748cd0a
NM_000540.3:c.7523G>A
NC_000019.10:g.38500899G>A
CM000681.2:g.38500899G>A
NC_000019.9:g.38991539G>A
CM000681.1:g.38991539G>A
NC_000019.8:g.43683379G>A
NG_008866.1:g.72200G>A
Malignant hyperthermia, susceptibility to, 1
(MONDO:0007783 )
Criteria Specification: ACMG variant classification Malignant Hyperthermia
Expert Panel(s)
Malignant Hyperthermia Susceptibility VCEP
Codes: PS4, PS3_Moderate, PM6_Supporting, PP3_Moderate
Likely Pathogenic

Evidence Links 0

CA024439
ClinVar Variation ID: 161371
Gene: RYR1
Uuid: 40ad2c20-84b2-413d-80d7-399ec3761d39
NM_000540.2:c.4400A>G
NC_000019.10:g.38477816A>G
CM000681.2:g.38477816A>G
NC_000019.9:g.38968456A>G
CM000681.1:g.38968456A>G
NC_000019.8:g.43660296A>G
NG_008866.1:g.49117A>G
Malignant hyperthermia, susceptibility to, 1
(MONDO:0007783 )
Criteria Specification: ACMG variant classification Malignant Hyperthermia
Expert Panel(s)
Malignant Hyperthermia Susceptibility VCEP
Codes: BP4
Uncertain Significance

Evidence Links 0

CA024018
ClinVar Variation ID: 133043
Gene: RYR1
Uuid: ee8cf8a1-7193-4be2-92d4-4ee287b0fdf0
NM_000540.2:c.12884C>T
NC_000019.10:g.38565218C>T
CM000681.2:g.38565218C>T
NC_000019.9:g.39055858C>T
CM000681.1:g.39055858C>T
NC_000019.8:g.43747698C>T
NG_008866.1:g.136519C>T
Malignant hyperthermia, susceptibility to, 1
(MONDO:0007783 )
Criteria Specification: ACMG variant classification Malignant Hyperthermia
Expert Panel(s)
Malignant Hyperthermia Susceptibility VCEP
Codes: BP4, BP2, BS2_Supporting, BS1
Benign

Evidence Links 0

CA405667995
Gene: RYR1
Uuid: faf3f9ec-a8ff-4fbc-938a-0937f9171fc6
NM_001042723.2:c.12295G>C
NC_000019.10:g.38561140G>C
CM000681.2:g.38561140G>C
NC_000019.9:g.39051780G>C
CM000681.1:g.39051780G>C
NC_000019.8:g.43743620G>C
NG_008866.1:g.132441G>C
Malignant hyperthermia, susceptibility to, 1
(MONDO:0007783 )
Criteria Specification: ACMG variant classification Malignant Hyperthermia
Expert Panel(s)
Malignant Hyperthermia Susceptibility VCEP
Codes: BP4, BS2_Supporting
Likely Benign

Evidence Links 0

CA066616
ClinVar Variation ID: 1214007
Gene: RYR1
Uuid: 89c61653-3803-4e54-9278-d1ea8093993f
NM_001042723.2:c.5033A>G
NC_000019.10:g.38485688A>G
CM000681.2:g.38485688A>G
NC_000019.9:g.38976328A>G
CM000681.1:g.38976328A>G
NC_000019.8:g.43668168A>G
NG_008866.1:g.56989A>G
Malignant hyperthermia, susceptibility to, 1
(MONDO:0007783 )
Criteria Specification: ACMG variant classification Malignant Hyperthermia
Expert Panel(s)
Malignant Hyperthermia Susceptibility VCEP
Codes: BP4
Uncertain Significance

Evidence Links 0

CA024353
ClinVar Variation ID: 133117
Gene: RYR1
Uuid: f1c52c83-6947-4c93-8f96-1f727e2dd447
NM_000540.2:c.2537C>T
NC_000019.10:g.38460551C>T
CM000681.2:g.38460551C>T
NC_000019.9:g.38951191C>T
CM000681.1:g.38951191C>T
NC_000019.8:g.43643031C>T
NG_008866.1:g.31852C>T
Malignant hyperthermia, susceptibility to, 1
(MONDO:0007783 )
Criteria Specification: ACMG variant classification Malignant Hyperthermia
Expert Panel(s)
Malignant Hyperthermia Susceptibility VCEP
Codes: PS4_Supporting
Uncertain Significance

Evidence Links 0

CA024268
ClinVar Variation ID: 133094
Gene: RYR1
Uuid: 86e6ae80-88b6-401c-87e1-96be13b84233
NM_000540.2:c.14825G>T
NC_000019.10:g.38585959G>T
CM000681.2:g.38585959G>T
NC_000019.9:g.39076599G>T
CM000681.1:g.39076599G>T
NC_000019.8:g.43768439G>T
NG_008866.1:g.157260G>T
Malignant hyperthermia, susceptibility to, 1
(MONDO:0007783 )
Criteria Specification: ACMG variant classification Malignant Hyperthermia
Expert Panel(s)
Malignant Hyperthermia Susceptibility VCEP
Codes: PM1_Supporting, PP3_Moderate
Uncertain Significance

Evidence Links 0

CA024807
ClinVar Variation ID: 133204
Gene: RYR1
Uuid: 6c797168-c3ad-4093-a9cd-4481d3141957
NM_000540.2:c.7487C>T
NC_000019.10:g.38500863C>T
CM000681.2:g.38500863C>T
NC_000019.9:g.38991503C>T
CM000681.1:g.38991503C>T
NC_000019.8:g.43683343C>T
NG_008866.1:g.72164C>T
Malignant hyperthermia, susceptibility to, 1
(MONDO:0007783 )
Criteria Specification: ACMG variant classification Malignant Hyperthermia
Expert Panel(s)
Malignant Hyperthermia Susceptibility VCEP
Codes: PP3_Moderate
Uncertain Significance

Evidence Links 0

CA405667952
ClinVar Variation ID: 573252
Gene: RYR1
Uuid: 16017df4-8c9b-4fac-8831-cf7ba360b618
NM_000540.2:c.7076G>A
NC_000019.10:g.38499683G>A
CM000681.2:g.38499683G>A
NC_000019.9:g.38990323G>A
CM000681.1:g.38990323G>A
NC_000019.8:g.43682163G>A
NG_008866.1:g.70984G>A
Malignant hyperthermia, susceptibility to, 1
(MONDO:0007783 )
Criteria Specification: ACMG variant classification Malignant Hyperthermia
Expert Panel(s)
Malignant Hyperthermia Susceptibility VCEP
Codes: PS4_Moderate, PM1, PP3_Moderate
Likely Pathogenic

Evidence Links 0

CA066494
ClinVar Variation ID: 635269
Gene: RYR1
Uuid: 0cd03106-9228-4a14-bb51-69b0321a262f
NM_000540.3:c.488G>A
NC_000019.10:g.38444212G>A
CM000681.2:g.38444212G>A
NC_000019.9:g.38934852G>A
CM000681.1:g.38934852G>A
NC_000019.8:g.43626692G>A
NG_008866.1:g.15513G>A
Malignant hyperthermia, susceptibility to, 1
(MONDO:0007783 )
Criteria Specification: ACMG variant classification Malignant Hyperthermia
Expert Panel(s)
Malignant Hyperthermia Susceptibility VCEP
Codes: PS4_Supporting, PM1, PP3_Moderate
Uncertain Significance

Evidence Links 0

CA024986
ClinVar Variation ID: 133242
Gene: RYR1
Uuid: 8a9d6bc5-488c-4ce8-997d-ac68bffc5475
NM_000540.2:c.947G>T
NC_000019.10:g.38448501G>T
CM000681.2:g.38448501G>T
NC_000019.9:g.38939141G>T
CM000681.1:g.38939141G>T
NC_000019.8:g.43630981G>T
NG_008866.1:g.19802G>T
Malignant hyperthermia, susceptibility to, 1
(MONDO:0007783 )
Criteria Specification: ACMG variant classification Malignant Hyperthermia
Expert Panel(s)
Malignant Hyperthermia Susceptibility VCEP
Codes: PM1, PP3_Moderate
Uncertain Significance

Evidence Links 0

CA024266
ClinVar Variation ID: 65927
Gene: RYR1
Uuid: 9eaf27f2-ff5e-4590-907b-4854aba6ad85
NM_000540.2:c.14818G>A
NC_000019.10:g.38585952G>A
CM000681.2:g.38585952G>A
NC_000019.9:g.39076592G>A
CM000681.1:g.39076592G>A
NC_000019.8:g.43768432G>A
NG_008866.1:g.157253G>A
Malignant hyperthermia, susceptibility to, 1
(MONDO:0007783 )
Criteria Specification: ACMG variant classification Malignant Hyperthermia
Expert Panel(s)
Malignant Hyperthermia Susceptibility VCEP
Codes: PS4_Moderate, PM1_Supporting, PP3_Moderate
Uncertain Significance

Evidence Links 0

CA023959
ClinVar Variation ID: 133030
Gene: RYR1
Uuid: 29fc611a-ac33-4a31-aa55-7f0ae887a359
NM_000540.2:c.1202G>A
NC_000019.10:g.38451843G>A
CM000681.2:g.38451843G>A
NC_000019.9:g.38942483G>A
CM000681.1:g.38942483G>A
NC_000019.8:g.43634323G>A
NG_008866.1:g.23144G>A
Malignant hyperthermia, susceptibility to, 1
(MONDO:0007783 )
Criteria Specification: ACMG variant classification Malignant Hyperthermia
Expert Panel(s)
Malignant Hyperthermia Susceptibility VCEP
Codes: PS4, PP1, PS3_Moderate, PM1, PP3_Moderate
Pathogenic

Evidence Links 0

CA024586
ClinVar Variation ID: 161374
Gene: RYR1
Uuid: 73081ccc-e01c-4829-bb4a-06c84d1372e7
NM_000540.2:c.6478G>A
NC_000019.10:g.38494555G>A
CM000681.2:g.38494555G>A
NC_000019.9:g.38985195G>A
CM000681.1:g.38985195G>A
NC_000019.8:g.43677035G>A
NG_008866.1:g.65856G>A
Malignant hyperthermia, susceptibility to, 1
(MONDO:0007783 )
Criteria Specification: ACMG variant classification Malignant Hyperthermia
Expert Panel(s)
Malignant Hyperthermia Susceptibility VCEP
Codes: PM1
Uncertain Significance

Evidence Links 0

CA023858
ClinVar Variation ID: 132999
Gene: RYR1
Uuid: fc4aa821-2122-48cd-a503-bebf86b45e59
NM_000540.2:c.10747G>C
NC_000019.10:g.38527707G>C
CM000681.2:g.38527707G>C
NC_000019.9:g.39018347G>C
CM000681.1:g.39018347G>C
NC_000019.8:g.43710187G>C
NG_008866.1:g.99008G>C
Malignant hyperthermia, susceptibility to, 1
(MONDO:0007783 )
Criteria Specification: ACMG variant classification Malignant Hyperthermia
Expert Panel(s)
Malignant Hyperthermia Susceptibility VCEP
Codes: BA1
Benign

Evidence Links 0

CA024057
ClinVar Variation ID: 93252
Gene: RYR1
Uuid: a51fdb33-f111-476c-aa86-949409f77623
NM_000540.3:c.13513G>C
NC_000019.10:g.38566986G>C
CM000681.2:g.38566986G>C
NC_000019.9:g.39057626G>C
CM000681.1:g.39057626G>C
NC_000019.8:g.43749466G>C
NG_008866.1:g.138287G>C
Malignant hyperthermia, susceptibility to, 1
(MONDO:0007783 )
Criteria Specification: ACMG variant classification Malignant Hyperthermia
Expert Panel(s)
Malignant Hyperthermia Susceptibility VCEP
Codes: BA1
Benign

Evidence Links 0

CA024368
ClinVar Variation ID: 161363
Gene: RYR1
Uuid: eb6330aa-4971-4922-a249-cc526e76e611
NM_000540.2:c.2797G>A
NC_000019.10:g.38464649G>A
CM000681.2:g.38464649G>A
NC_000019.9:g.38955289G>A
CM000681.1:g.38955289G>A
NC_000019.8:g.43647129G>A
NG_008866.1:g.35950G>A
Malignant hyperthermia, susceptibility to, 1
(MONDO:0007783 )
Criteria Specification: ACMG variant classification Malignant Hyperthermia
Expert Panel(s)
Malignant Hyperthermia Susceptibility VCEP
Codes: BA1
Benign

Evidence Links 0

CA212170
ClinVar Variation ID: 224380
Gene: RYR1
Uuid: 3b67716e-0df3-49da-be62-066d465873c5
NM_000540.2:c.4999C>T
NC_000019.10:g.38485654C>T
CM000681.2:g.38485654C>T
NC_000019.9:g.38976294C>T
CM000681.1:g.38976294C>T
NC_000019.8:g.43668134C>T
NG_008866.1:g.56955C>T
Malignant hyperthermia, susceptibility to, 1
(MONDO:0007783 )
Criteria Specification: ACMG variant classification Malignant Hyperthermia
Expert Panel(s)
Malignant Hyperthermia Susceptibility VCEP
Codes: BA1
Benign

Evidence Links 0

CA073512
ClinVar Variation ID: 329088
Gene: RYR1
Uuid: ff550456-5053-40d7-86de-84e32f5b1636
NM_000540.2:c.9353C>T
NC_000019.10:g.38512364C>T
CM000681.2:g.38512364C>T
NC_000019.9:g.39003004C>T
CM000681.1:g.39003004C>T
NC_000019.8:g.43694844C>T
NG_008866.1:g.83665C>T
Malignant hyperthermia, susceptibility to, 1
(MONDO:0007783 )
Criteria Specification: ACMG variant classification Malignant Hyperthermia
Expert Panel(s)
Malignant Hyperthermia Susceptibility VCEP
Codes: BA1
Benign

Evidence Links 0

CA024017
ClinVar Variation ID: 159834
Gene: RYR1
Uuid: 13e778b6-fc1c-4a97-9c49-0878bad4f887
NM_000540.2:c.12881C>T
NC_000019.10:g.38565215C>T
CM000681.2:g.38565215C>T
NC_000019.9:g.39055855C>T
CM000681.1:g.39055855C>T
NC_000019.8:g.43747695C>T
NG_008866.1:g.136516C>T
Malignant hyperthermia, susceptibility to, 1
(MONDO:0007783 )
Criteria Specification: ACMG variant classification Malignant Hyperthermia
Expert Panel(s)
Malignant Hyperthermia Susceptibility VCEP
Codes: BA1
Benign

Evidence Links 0

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