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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ANKRD11
(Q2507*)
Single nucleotide variant
(nonsense)
KBG syndrome
GPathogenic
ANKRD11
(K248N)
Single nucleotide variant
(missense variant +1 more)
KBG syndrome
GLikely pathogenic