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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RYR1
(M4635L +1 more)
Single nucleotide variant
(missense variant)
RYR1-related disorder
GLikely pathogenic
RYR1
(R2435C)
Single nucleotide variant
(missense variant)
RYR1-related disorder
GLikely pathogenic
RYR1
(D4918N +1 more)
Single nucleotide variant
(missense variant)
RYR1-related disorder
GPathogenic
RYR1
(F4803C +1 more)
Single nucleotide variant
(missense variant)
RYR1-related disorder
GLikely pathogenic
RYR1
(M4640R +1 more)
Single nucleotide variant
(missense variant)
RYR1-related disorder
+1 more
GPathogenic/Likely pathogenic
RYR1
(L4647P +1 more)
Single nucleotide variant
(missense variant)
RYR1-related disorder
GLikely pathogenic
RYR1
(R2435L)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
GLikely pathogenic
RYR1
(P1787L)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
GBenign
RYR1
(Q3751E)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
GBenign
RYR1
(R4893Q +1 more)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(A4940T +1 more)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
GUncertain significance
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