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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AAAS
Single nucleotide variant
(synonymous variant)
AAAS-related disorder
+2 more
GBenign/Likely benign
AAAS
(E365fs +1 more)
Duplication
(frameshift variant)
AAAS-related disorder
+2 more
GPathogenic
AAAS
(G112S)
Single nucleotide variant
(missense variant)
AAAS-related disorder
GUncertain significance
AAAS
Single nucleotide variant
(synonymous variant)
AAAS-related disorder
+2 more
GConflicting classifications of pathogenicity
AAAS
(F90L)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
AAAS
(H21Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
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