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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RPS24
(G137R)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia 3
GUncertain significance
RPS24
(E147K)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia 3
GUncertain significance
RPS24
Deletion
(nonsense)
Diamond-Blackfan anemia 3
GUncertain significance
RPS24
(A220V)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia 3
GUncertain significance
RPS24
(P267A)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia 3
GUncertain significance
RPS24
(I271L)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia 3
GUncertain significance
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