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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ANKRD11
(Q2382*)
Single nucleotide variant
(nonsense)
KBG syndrome
GPathogenic/Likely pathogenic
ANKRD11
(D1068fs)
Duplication
(frameshift variant)
KBG syndrome
GLikely pathogenic
ANKRD11
(H632fs)
Deletion
(frameshift variant)
KBG syndrome
GPathogenic
ANKRD11
(A520fs)
Deletion
(frameshift variant)
KBG syndrome
GPathogenic
ANKRD11
(P270L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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