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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DEAF1
(G541S +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
DEAF1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GBenign/Likely benign
DEAF1
Deletion
(inframe_deletion +1 more)
Intellectual disability, autosomal dominant 24
+3 more
GUncertain significance
DEAF1
(A27V)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-epilepsy-extrapyramidal syndrome
+3 more
GUncertain significance
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