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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AQP2
(Q43fs)
Deletion
(frameshift variant)
Diabetes insipidus, nephrogenic, autosomal
GPathogenic
AQP2
Single nucleotide variant
(intron variant)
Diabetes insipidus, nephrogenic, autosomal
GUncertain significance
AQP2, AQP5-AS1
(T125M)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GPathogenic
AQP2, AQP5-AS1
(R187C)
Single nucleotide variant
(missense variant)
Diabetes insipidus, nephrogenic, autosomal
+2 more
GPathogenic/Likely pathogenic
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