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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AUTS2
(R152*)
Single nucleotide variant
(nonsense)
Autism spectrum disorder due to AUTS2 deficiency
+1 more
GPathogenic/Likely pathogenic
AUTS2
(D509E)
Single nucleotide variant
(missense variant)
Autism spectrum disorder due to AUTS2 deficiency
GConflicting classifications of pathogenicity
AUTS2
Deletion
(splice donor variant)
Autism spectrum disorder due to AUTS2 deficiency
GUncertain significance
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