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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CLCN4
(A4V)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, X-linked 49
+1 more
GUncertain significance
CLCN4
(G70V)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, X-linked 49
GUncertain significance
CLCN4
(G124S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CLCN4
(V360I +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 49
GUncertain significance
CLCN4
(K466N +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 49
GUncertain significance
CLCN4
(P513L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
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