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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FBXO11, MSH6
Microsatellite
(nonsense)
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
+1 more
GPathogenic/Likely pathogenic
FBXO11, MSH6
(H907fs +1 more)
Deletion
(frameshift variant)
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
+1 more
GLikely pathogenic
FBXO11
(G466R +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
+1 more
GLikely pathogenic
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