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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RPS29
Deletion
(intron variant)
Diamond-Blackfan anemia 13
+1 more
GBenign/Likely benign
RPS29
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 13
+1 more
GUncertain significance
RPS29
(I50T +1 more)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia 13
GLikely pathogenic
RPS29
(I31F +1 more)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia 13
GPathogenic
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