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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ANKRD11
(G2254*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
ANKRD11
(K1257fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
ANKRD11
(R54*)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic
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