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Links from MedGen

Items: 1 to 100 of 142

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AQP2
(R113H)
Single nucleotide variant
(missense variant)
Diabetes insipidus, nephrogenic, autosomal
GUncertain significance
AQP2, AQP5-AS1
(V168M)
Single nucleotide variant
(non-coding transcript variant +1 more)
Diabetes insipidus, nephrogenic, autosomal
GLikely pathogenic
AQP2, AQP5-AS1
Single nucleotide variant
(3 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GBenign
AQP5-AS1, AQP2
(L173R)
Single nucleotide variant
(non-coding transcript variant +1 more)
Diabetes insipidus, nephrogenic, autosomal
GUncertain significance
AQP2
(Q43fs)
Deletion
(frameshift variant)
Diabetes insipidus, nephrogenic, autosomal
GPathogenic
AQP2
Single nucleotide variant
(intron variant)
Diabetes insipidus, nephrogenic, autosomal
GUncertain significance
AQP2
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GLikely pathogenic
AQP2
(Q43*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
AQP2, AQP5-AS1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
AQP2
(I52T)
Single nucleotide variant
(missense variant)
Diabetes insipidus, nephrogenic, autosomal
GUncertain significance
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
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
AQP5-AS1, AQP2
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
AQP2, AQP5-AS1
(S261L)
Single nucleotide variant
(missense variant)
Diabetes insipidus, nephrogenic, autosomal
GUncertain significance
AQP2
(M1I)
Single nucleotide variant
(missense variant +1 more)
Diabetes insipidus, nephrogenic, autosomal
GPathogenic
AQP2, AQP5-AS1
(P266fs)
Deletion
(frameshift variant)
Diabetes insipidus, nephrogenic, autosomal
GPathogenic
AQP2, AQP5-AS1
Single nucleotide variant
(3 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GUncertain significance
AQP2, AQP5-AS1
Single nucleotide variant
(3 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GUncertain significance
AQP2, AQP5-AS1
Single nucleotide variant
(3 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GUncertain significance
AQP5-AS1, AQP2
Single nucleotide variant
(3 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GUncertain significance
AQP2, AQP5-AS1
Single nucleotide variant
(3 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GUncertain significance
AQP2, AQP5-AS1
Single nucleotide variant
(3 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GUncertain significance
AQP2, AQP5-AS1
Single nucleotide variant
(3 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GBenign
AQP2, AQP5-AS1
Single nucleotide variant
(intron variant)
Diabetes insipidus, nephrogenic, autosomal
+1 more
GBenign/Likely benign
AQP2, AQP5-AS1
(G154R)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
AQP2, AQP5-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Diabetes insipidus, nephrogenic, autosomal
GUncertain significance
AQP2, AQP5-AS1
Single nucleotide variant
(3 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GUncertain significance
AQP2, AQP5-AS1
Single nucleotide variant
(3 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GUncertain significance
AQP2, AQP5-AS1
Single nucleotide variant
(3 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GBenign
AQP2, AQP5-AS1
Single nucleotide variant
(3 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GLikely benign
AQP2, AQP5-AS1
(V131M)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
AQP2, AQP5-AS1
Single nucleotide variant
(3 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GUncertain significance
AQP2, AQP5-AS1
Single nucleotide variant
(3 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GUncertain significance
AQP2, AQP5-AS1
Single nucleotide variant
(3 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GUncertain significance
AQP2, AQP5-AS1
Single nucleotide variant
(3 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GBenign
AQP2
(R11K)
Single nucleotide variant
(missense variant)
Diabetes insipidus, nephrogenic, autosomal
GUncertain significance
AQP2
Single nucleotide variant
(5 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GUncertain significance
AQP2
Single nucleotide variant
(5 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GBenign
AQP2, AQP5-AS1
Single nucleotide variant
(3 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GUncertain significance
AQP2, AQP5-AS1
Single nucleotide variant
(3 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GUncertain significance
AQP2, AQP5-AS1
Single nucleotide variant
(3 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GUncertain significance
AQP2, AQP5-AS1
Single nucleotide variant
(3 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GUncertain significance
AQP2, AQP5-AS1
Single nucleotide variant
(3 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GUncertain significance
AQP2, AQP5-AS1
Single nucleotide variant
(3 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GUncertain significance
AQP2, AQP5-AS1
Single nucleotide variant
(3 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GUncertain significance
AQP2, AQP5-AS1
Single nucleotide variant
(3 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GLikely benign
AQP2, AQP5-AS1
Single nucleotide variant
(3 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GUncertain significance
AQP2, AQP5-AS1
Single nucleotide variant
(3 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GUncertain significance
AQP2, AQP5-AS1
Single nucleotide variant
(3 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GUncertain significance
AQP2, AQP5-AS1
Single nucleotide variant
(3 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GUncertain significance
AQP2, AQP5-AS1
Single nucleotide variant
(3 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GUncertain significance
AQP2, AQP5-AS1
Single nucleotide variant
(3 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GUncertain significance
AQP5-AS1, AQP2
Single nucleotide variant
(3 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GUncertain significance
AQP2, AQP5-AS1
Single nucleotide variant
(3 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GLikely benign
AQP2, AQP5-AS1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AQP2, AQP5-AS1
(L209P)
Single nucleotide variant
(missense variant)
Diabetes insipidus, nephrogenic, autosomal
GUncertain significance
AQP2
Single nucleotide variant
(5 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GUncertain significance
AQP2
Single nucleotide variant
(5 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GUncertain significance
AQP2
Single nucleotide variant
(5 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GUncertain significance
AQP2, AQP5-AS1
Single nucleotide variant
(splice acceptor variant)
Diabetes insipidus, nephrogenic, autosomal
GLikely pathogenic
AQP2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AQP2
Single nucleotide variant
(synonymous variant)
Diabetes insipidus, nephrogenic, autosomal
+1 more
GConflicting classifications of pathogenicity
AQP2
Single nucleotide variant
(synonymous variant)
Diabetes insipidus, nephrogenic, autosomal
+1 more
GLikely benign
AQP2, AQP5-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
AQP2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AQP2, AQP5-AS1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AQP2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
AQP2
(A47V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AQP2, AQP5-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+2 more
GBenign
AQP2
(N33fs)
Deletion
(frameshift variant)
Diabetes insipidus, nephrogenic, autosomal
+1 more
GPathogenic/Likely pathogenic
AQP2
(Q93*)
Single nucleotide variant
(nonsense)
Diabetes insipidus, nephrogenic, autosomal
+1 more
GPathogenic
AQP2
(V71M)
Single nucleotide variant
(missense variant)
Diabetes insipidus, nephrogenic, autosomal
+1 more
GPathogenic
AQP2, AQP5-AS1
(D150E)
Single nucleotide variant
(non-coding transcript variant +1 more)
Diabetes insipidus, nephrogenic, autosomal
+1 more
GLikely pathogenic
AQP2, AQP5-AS1
(S188F)
Single nucleotide variant
(missense variant)
Diabetes insipidus, nephrogenic, autosomal
GLikely pathogenic
AQP2, AQP5-AS1
Single nucleotide variant
(3 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GUncertain significance
AQP2, AQP5-AS1
Single nucleotide variant
(3 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GBenign
AQP2, AQP5-AS1
Single nucleotide variant
(3 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GUncertain significance
AQP2, AQP5-AS1
Single nucleotide variant
(3 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GUncertain significance
AQP2, AQP5-AS1
Single nucleotide variant
(3 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GUncertain significance
AQP2, AQP5-AS1
Single nucleotide variant
(3 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GBenign
AQP2, AQP5-AS1
Single nucleotide variant
(3 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GUncertain significance
AQP2, AQP5-AS1
Single nucleotide variant
(3 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GUncertain significance
AQP2, AQP5-AS1
Single nucleotide variant
(3 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GBenign
AQP2, AQP5-AS1
Single nucleotide variant
(3 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GBenign
AQP2, AQP5-AS1
Single nucleotide variant
(3 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GUncertain significance
AQP2, AQP5-AS1
Single nucleotide variant
(3 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GBenign
AQP2, AQP5-AS1
Single nucleotide variant
(3 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GBenign
AQP2, AQP5-AS1
Single nucleotide variant
(3 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GBenign
AQP5-AS1, AQP2
Single nucleotide variant
(3 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GLikely benign
AQP2, AQP5-AS1
Single nucleotide variant
(3 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GBenign
AQP5-AS1, AQP2
Single nucleotide variant
(3 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GBenign
AQP2, AQP5-AS1
Single nucleotide variant
(3 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GUncertain significance
AQP2, AQP5-AS1
Single nucleotide variant
(3 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GBenign
AQP2, AQP5-AS1
Single nucleotide variant
(3 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GBenign
AQP2, AQP5-AS1
Single nucleotide variant
(3 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GUncertain significance
AQP5-AS1, AQP2
Single nucleotide variant
(3 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GBenign
AQP2, AQP5-AS1
Single nucleotide variant
(3 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GBenign
AQP2, AQP5-AS1
Single nucleotide variant
(3 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GUncertain significance
AQP2, AQP5-AS1
Single nucleotide variant
(3 prime UTR variant)
Diabetes insipidus, nephrogenic, autosomal
GUncertain significance
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