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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CLCN4
(D125fs +1 more)
Deletion
(frameshift variant)
Intellectual disability, X-linked 49
GLikely pathogenic
CLCN4
(I157L +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 49
+1 more
GUncertain significance
CLCN4
(G544R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
CLCN4
(P607L +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 49
GUncertain significance
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