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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EOGT
Single nucleotide variant
(splice acceptor variant)
Adams-Oliver syndrome 4
GPathogenic
EOGT
(C135Y)
Single nucleotide variant
(missense variant +1 more)
Adams-Oliver syndrome 4
GPathogenic
EOGT
Single nucleotide variant
(splice donor variant)
Adams-Oliver syndrome 4
GPathogenic
EOGT
(H27fs)
Deletion
(frameshift variant +1 more)
Adams-Oliver syndrome 4
GPathogenic
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