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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ANAPC7
(C165fs +2 more)
Deletion
(frameshift variant +1 more)
Ferguson-Bonni neurodevelopmental syndrome
GUncertain significance
ANAPC7
(L46S +1 more)
Single nucleotide variant
(missense variant +1 more)
Ferguson-Bonni neurodevelopmental syndrome
GUncertain significance
ANAPC7, LOC130008741
Deletion
(splice acceptor variant +2 more)
Ferguson-Bonni neurodevelopmental syndrome
GPathogenic
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