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Links from MedGen

Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AP3B2, CPEB1
+19 more
Copy number loss
Diamond-Blackfan anemia 4
GPathogenic
RPS17
Single nucleotide variant
(splice acceptor variant)
Diamond-Blackfan anemia 4
GLikely pathogenic
RPS17
Single nucleotide variant
(synonymous variant +1 more)
Diamond-Blackfan anemia 4
+2 more
GLikely benign
RPS17
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 4
+1 more
GLikely benign
RPS17
(Y53*)
Single nucleotide variant
(nonsense +1 more)
Diamond-Blackfan anemia 4
GPathogenic
RPS17
Deletion
Diamond-Blackfan anemia 4
GPathogenic
RPS17
(G68fs)
Microsatellite
(frameshift variant +1 more)
Diamond-Blackfan anemia 4
GPathogenic
RPS17
(M1R)
Single nucleotide variant
(missense variant +2 more)
Diamond-Blackfan anemia
GPathogenic
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