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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129391106, RYR1
Single nucleotide variant
(intron variant)
King Denborough syndrome
+4 more
GBenign
LOC129391106, RYR1
(M485V)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
GUncertain significance
LOC129391106, RYR1
(E512K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
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