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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SALL4
(P565S)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
SALL4
(K357fs)
Deletion
(frameshift variant)
Duane-radial ray syndrome
GPathogenic