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Links from MedGen

Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EEF2K, LOC105371129
+35 more
Deletion
Chromosome 16p12.1 deletion syndrome, 520kb
GPathogenic
CDR2, EEF2K
+9 more
Copy number loss
Chromosome 16p12.1 deletion syndrome, 520kb
GPathogenic
CDR2, EEF2K
+7 more
Copy number loss
Chromosome 16p12.1 deletion syndrome, 520kb
GPathogenic
CDR2, EEF2K
+9 more
Copy number loss
Chromosome 16p12.1 deletion syndrome, 520kb
GPathogenic
CDR2, EEF2K
+6 more
Copy number loss
Chromosome 16p12.1 deletion syndrome, 520kb
GPathogenic
CDR2, EEF2K
+6 more
Copy number loss
Chromosome 16p12.1 deletion syndrome, 520kb
GLikely pathogenic
CDR2, EEF2K
+6 more
Copy number loss
Chromosome 16p12.1 deletion syndrome, 520kb
GPathogenic
CDR2, EEF2K
+6 more
Copy number loss
Chromosome 16p12.1 deletion syndrome, 520kb
GLikely pathogenic
POLR3E, SDR42E2
+6 more
Copy number loss
Chromosome 16p12.1 deletion syndrome, 520kb
GPathogenic
CDR2, EEF2K
+7 more
Copy number loss
Chromosome 16p12.1 deletion syndrome, 520kb
GLikely pathogenic
SDR42E2, EEF2K
+4 more
Copy number loss
Chromosome 16p12.1 deletion syndrome, 520kb
GPathogenic
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