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Items: 6

  • The following term was not found in ClinVar: hydroxybutyronitrile.
Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RYR1
(R530H)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
GLikely pathogenic
RYR1
(R533C)
Single nucleotide variant
(missense variant)
succinylcholine response - Toxicity
+7 more
GPathogenic; drug response
RYR1
(T2206M)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
GPathogenic
RYR1
(R2336H)
Single nucleotide variant
(missense variant)
methoxyflurane response - Toxicity
+7 more
GPathogenic; drug response
RYR1
(R2355W)
Single nucleotide variant
(missense variant)
isoflurane response - Toxicity
+7 more
GPathogenic; drug response
RYR1
(G2434R)
Single nucleotide variant
(missense variant)
succinylcholine response - Toxicity
+7 more
GPathogenic; drug response
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