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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CKAP2L
(S86fs +1 more)
Deletion
(frameshift variant)
Filippi syndrome
GPathogenic
CKAP2L
(I26fs +1 more)
Duplication
(frameshift variant)
Filippi syndrome
GPathogenic
CKAP2L
(K185fs +1 more)
Deletion
(frameshift variant)
Filippi syndrome
GPathogenic
CKAP2L
Deletion
(splice acceptor variant)
Filippi syndrome
GPathogenic
CKAP2L
(G27fs)
Insertion
(5 prime UTR variant +2 more)
Filippi syndrome
GPathogenic
CKAP2L
(M1T)
Single nucleotide variant
(5 prime UTR variant +3 more)
Filippi syndrome
GPathogenic
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