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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EFEMP1
(Y205*)
Single nucleotide variant
(nonsense)
Posterolateral diaphragmatic hernia
+13 more
GPathogenic
EFEMP1
(M107fs)
Deletion
(frameshift variant)
Posterolateral diaphragmatic hernia
+13 more
GPathogenic
Translocation
Craniosynostosis syndrome
+16 more
GPathogenic
Inversion
Obesity
+12 more
GUncertain significance
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