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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DCAF17
(A147fs)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic
DCAF17
(R339L +1 more)
Single nucleotide variant
(missense variant +1 more)
Woodhouse-Sakati syndrome
GUncertain significance