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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ANKRD11
(S2071*)
Single nucleotide variant
(nonsense)
KBG syndrome
GPathogenic
ANKRD11
(K635fs)
Microsatellite
(frameshift variant)
not provided
+11 more
GPathogenic/Likely pathogenic