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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RUSC2
(R251H)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
RUSC2
(E749K)
Single nucleotide variant
(missense variant +2 more)
not specified
+2 more
GConflicting classifications of pathogenicity
RUSC2
(D1171N +1 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal recessive 61
+1 more
GConflicting classifications of pathogenicity
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