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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ETV2, LOC130064247
(G117fs +1 more)
Deletion
(frameshift variant +1 more)
Abnormal vertebral morphology
+3 more
GLikely pathogenic
ETV2
(D160Y +2 more)
Single nucleotide variant
(missense variant)
Abnormal vertebral morphology
+3 more
GLikely pathogenic