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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PUF60
(G431R +9 more)
Single nucleotide variant
(missense variant)
8q24.3 microdeletion syndrome
+1 more
GPathogenic/Likely pathogenic
PUF60
(Y169S +9 more)
Single nucleotide variant
(missense variant)
8q24.3 microdeletion syndrome
+1 more
GConflicting classifications of pathogenicity
PUF60
(N189fs +9 more)
Deletion
(frameshift variant)
8q24.3 microdeletion syndrome
+1 more
GPathogenic/Likely pathogenic
PUF60
(N147fs +9 more)
Deletion
(frameshift variant)
8q24.3 microdeletion syndrome
GPathogenic/Likely pathogenic
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