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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RPS24
(P52L)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia 3
GUncertain significance
RPS24
(D53fs)
Deletion
(frameshift variant)
Diamond-Blackfan anemia 3
GLikely pathogenic