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Links from MedGen

Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IL12A, IQCJ
+10 more
Duplication
Growth abnormality
GUncertain significance
ANKRD34A, ANKRD35
+14 more
Duplication
Growth abnormality
GUncertain significance
GAS5, RC3H1
+8 more
Deletion
Growth abnormality
GUncertain significance
NBPF8, PPIAL4A
Duplication
Growth abnormality
GUncertain significance
GEMIN4, GLOD4
+6 more
Deletion
Growth abnormality
GUncertain significance
CDK12
Deletion
Growth abnormality
GUncertain significance
EBF3
(E94fs)
Deletion
(frameshift variant)
Vesicoureteral reflux
+7 more
GPathogenic
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