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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CLCN4
(A427T +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 49
GUncertain significance
CLCN4
(G573D +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 49
+1 more
GUncertain significance
CLCN4
(P586T +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ACE2, ACOT9
+94 more
Copy number gain
not provided
GPathogenic
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