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Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AQP2, AQP5-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
AQP2, AQP5-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
AQP2, AQP5-AS1
(D150E)
Single nucleotide variant
(non-coding transcript variant +1 more)
Diabetes insipidus, nephrogenic, autosomal
+1 more
GConflicting classifications of pathogenicity
AQP2, AQP5-AS1
Single nucleotide variant
(intron variant)
Diabetes insipidus, nephrogenic, autosomal
+1 more
GBenign
AQP2, AQP5-AS1
(R187C)
Single nucleotide variant
(missense variant)
Diabetes insipidus, nephrogenic, autosomal
+2 more
GPathogenic/Likely pathogenic
AQP2, AQP5-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
AQP2, AQP5-AS1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
AQP2, AQP5-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
AQP2, AQP5-AS1
Single nucleotide variant
(intron variant)
Diabetes insipidus, nephrogenic, autosomal
+1 more
GBenign
AQP2, AQP5-AS1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
AQP2, AQP5-AS1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
AQP2, AQP5-AS1
(F204del)
Microsatellite
(inframe_indel +1 more)
not provided
GUncertain significance
AQP2, AQP5-AS1
(V257A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AQP5, AQP5-AS1
Deletion
(intron variant)
not provided
GBenign
AQP5, AQP5-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
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