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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RYR1
(E438Q)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
+11 more
GUncertain significance
HERC2
(N1682S)
Single nucleotide variant
(missense variant)
Dystonic disorder
+10 more
GUncertain significance
CACNA1A
Deletion
(3 prime UTR variant +1 more)
Specific learning disability
+13 more
GConflicting classifications of pathogenicity
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