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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AUTS2
Single nucleotide variant
(intron variant)
Autism spectrum disorder due to AUTS2 deficiency
GUncertain significance
AUTS2
(R495*)
Single nucleotide variant
(nonsense)
Autism spectrum disorder due to AUTS2 deficiency
+2 more
GConflicting classifications of pathogenicity
AUTS2
(P614fs +1 more)
Deletion
(frameshift variant)
Autism spectrum disorder due to AUTS2 deficiency
GPathogenic
AUTS2
(S956N +1 more)
Single nucleotide variant
(missense variant)
Autism spectrum disorder due to AUTS2 deficiency
GUncertain significance
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