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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SOX5
(P289S +3 more)
Single nucleotide variant
(missense variant)
Severe global developmental delay
+2 more
GLikely pathogenic
SOX5
Single nucleotide variant
(splice acceptor variant)
Lamb-Shaffer syndrome
+5 more
GLikely pathogenic