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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126862902, RYR1
(S2776F)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
GLikely benign
LOC126862902, RYR1
Single nucleotide variant
(synonymous variant)
Malignant hyperthermia, susceptibility to, 1
+7 more
GBenign
LOC126862902, RYR1
(T2787S)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GBenign
LOC126862902, RYR1
Single nucleotide variant
(synonymous variant)
RYR1-Related Disorders
+6 more
GBenign/Likely benign
LOC126862902, RYR1
(E2835D)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
LOC126862902, RYR1
Single nucleotide variant
(synonymous variant)
Malignant hyperthermia, susceptibility to, 1
+7 more
GBenign
LOC126862902, RYR1
Single nucleotide variant
(intron variant)
RYR1-Related Disorders
+6 more
GBenign/Likely benign
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