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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AQP2
(V71M)
Single nucleotide variant
(missense variant)
Diabetes insipidus, nephrogenic, autosomal
+1 more
GPathogenic
AQP2
(Q93*)
Single nucleotide variant
(nonsense)
Diabetes insipidus, nephrogenic, autosomal
+1 more
GPathogenic
AQP2, AQP5-AS1
(Q255*)
Single nucleotide variant
(nonsense)
Diabetes insipidus, nephrogenic, autosomal
+1 more
GPathogenic/Likely pathogenic
AQP2, AQP5-AS1
(S261L)
Single nucleotide variant
(missense variant)
Diabetes insipidus, nephrogenic, autosomal
GUncertain significance
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