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Links from MedGen

Items: 1 to 100 of 139

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KLHL3
(R244Q +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism type 2D
GUncertain significance
KLHL3
(R280W +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KLHL3
(A470S +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism type 2D
+1 more
GUncertain significance
KLHL3
Single nucleotide variant
(intron variant)
Pseudohypoaldosteronism type 2D
+1 more
GBenign
KLHL3
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
KLHL3
(P252S +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism type 2D
GLikely pathogenic
KLHL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2D
GUncertain significance
KLHL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2D
GUncertain significance
KLHL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2D
GUncertain significance
KLHL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2D
GUncertain significance
KLHL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2D
GUncertain significance
KLHL3
Single nucleotide variant
(5 prime UTR variant)
Pseudohypoaldosteronism type 2D
GUncertain significance
KLHL3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
KLHL3
Single nucleotide variant
(intron variant)
Pseudohypoaldosteronism type 2D
GLikely benign
KLHL3
(R430Q +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism type 2D
GUncertain significance
KLHL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2D
GUncertain significance
KLHL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2D
GUncertain significance
KLHL3
Single nucleotide variant
(synonymous variant)
Pseudohypoaldosteronism type 2D
+1 more
GBenign/Likely benign
KLHL3
(R54W +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism type 2D
+1 more
GUncertain significance
KLHL3
Single nucleotide variant
(synonymous variant)
Pseudohypoaldosteronism type 2D
GUncertain significance
KLHL3
Single nucleotide variant
(intron variant)
Pseudohypoaldosteronism type 2D
GBenign
KLHL3
Single nucleotide variant
(synonymous variant)
Pseudohypoaldosteronism type 2D
+2 more
GBenign/Likely benign
KLHL3
(N492H +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism type 2D
GUncertain significance
KLHL3
(V453I +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism type 2D
GUncertain significance
KLHL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2D
GUncertain significance
KLHL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2D
GUncertain significance
KLHL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2D
GUncertain significance
KLHL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2D
GBenign
KLHL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2D
GUncertain significance
KLHL3
Single nucleotide variant
(synonymous variant)
Pseudohypoaldosteronism type 2D
GUncertain significance
KLHL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2D
GUncertain significance
KLHL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2D
GUncertain significance
KLHL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2D
GUncertain significance
KLHL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2D
GBenign
KLHL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2D
GUncertain significance
KLHL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2D
GUncertain significance
KLHL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2D
GUncertain significance
KLHL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2D
GUncertain significance
KLHL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2D
GUncertain significance
KLHL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2D
GUncertain significance
KLHL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2D
GUncertain significance
KLHL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2D
GUncertain significance
KLHL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2D
GUncertain significance
KLHL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2D
GBenign
KLHL3
Single nucleotide variant
(5 prime UTR variant)
Pseudohypoaldosteronism type 2D
GBenign
KLHL3
Single nucleotide variant
(synonymous variant)
Pseudohypoaldosteronism type 2D
+2 more
GBenign/Likely benign
KLHL3
Single nucleotide variant
(synonymous variant)
Pseudohypoaldosteronism type 2D
GUncertain significance
KLHL3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
KLHL3
(T565M +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KLHL3
Single nucleotide variant
(5 prime UTR variant)
Pseudohypoaldosteronism type 2D
+1 more
GUncertain significance
KLHL3
Single nucleotide variant
(5 prime UTR variant)
Pseudohypoaldosteronism type 2D
+1 more
GUncertain significance
KLHL3
Single nucleotide variant
(5 prime UTR variant)
Pseudohypoaldosteronism type 2D
+1 more
GUncertain significance
KLHL3
Single nucleotide variant
(5 prime UTR variant)
Pseudohypoaldosteronism type 2D
+1 more
GUncertain significance
KLHL3
Single nucleotide variant
(5 prime UTR variant)
Autosomal dominant pseudohypoaldosteronism type 1
+1 more
GConflicting classifications of pathogenicity
KLHL3
Single nucleotide variant
(5 prime UTR variant)
Autosomal dominant pseudohypoaldosteronism type 1
+1 more
GBenign/Likely benign
KLHL3
Single nucleotide variant
(5 prime UTR variant)
Autosomal dominant pseudohypoaldosteronism type 1
+1 more
GBenign/Likely benign
KLHL3
Single nucleotide variant
(5 prime UTR variant)
Pseudohypoaldosteronism type 2D
+1 more
GUncertain significance
KLHL3
Single nucleotide variant
(intron variant)
Pseudohypoaldosteronism type 2D
+1 more
GUncertain significance
KLHL3
Single nucleotide variant
(synonymous variant)
Autosomal dominant pseudohypoaldosteronism type 1
+1 more
GConflicting classifications of pathogenicity
KLHL3
(A257G +2 more)
Single nucleotide variant
(missense variant)
Autosomal dominant pseudohypoaldosteronism type 1
+1 more
GUncertain significance
KLHL3
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
KLHL3
Single nucleotide variant
(intron variant)
Pseudohypoaldosteronism type 2D
+1 more
GBenign/Likely benign
KLHL3
Single nucleotide variant
(intron variant)
Autosomal dominant pseudohypoaldosteronism type 1
+2 more
GConflicting classifications of pathogenicity
KLHL3
(Q373R +2 more)
Single nucleotide variant
(missense variant)
Autosomal dominant pseudohypoaldosteronism type 1
+1 more
GUncertain significance
KLHL3
Single nucleotide variant
(intron variant)
not provided
+2 more
GLikely benign
KLHL3
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
KLHL3
(A474V +2 more)
Single nucleotide variant
(missense variant)
Autosomal dominant pseudohypoaldosteronism type 1
+1 more
GUncertain significance
KLHL3
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
KLHL3
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant pseudohypoaldosteronism type 1
+1 more
GConflicting classifications of pathogenicity
KLHL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2D
+1 more
GBenign/Likely benign
KLHL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2D
+1 more
GConflicting classifications of pathogenicity
KLHL3
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant pseudohypoaldosteronism type 1
+1 more
GUncertain significance
KLHL3
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant pseudohypoaldosteronism type 1
+1 more
GConflicting classifications of pathogenicity
KLHL3
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant pseudohypoaldosteronism type 1
+1 more
GConflicting classifications of pathogenicity
KLHL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2D
+1 more
GUncertain significance
KLHL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2D
+1 more
GUncertain significance
KLHL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2D
+1 more
GUncertain significance
KLHL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2D
+1 more
GUncertain significance
KLHL3
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant pseudohypoaldosteronism type 1
+1 more
GConflicting classifications of pathogenicity
KLHL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2D
+1 more
GUncertain significance
KLHL3
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant pseudohypoaldosteronism type 1
+1 more
GUncertain significance
KLHL3
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant pseudohypoaldosteronism type 1
+1 more
GBenign
KLHL3
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant pseudohypoaldosteronism type 1
+1 more
GBenign/Likely benign
KLHL3
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant pseudohypoaldosteronism type 1
+1 more
GBenign
KLHL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2D
+1 more
GUncertain significance
KLHL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2D
+1 more
GBenign/Likely benign
KLHL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2D
+1 more
GConflicting classifications of pathogenicity
KLHL3
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant pseudohypoaldosteronism type 1
+1 more
GConflicting classifications of pathogenicity
KLHL3
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant pseudohypoaldosteronism type 1
+1 more
GUncertain significance
KLHL3
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant pseudohypoaldosteronism type 1
+1 more
GBenign/Likely benign
KLHL3
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant pseudohypoaldosteronism type 1
+1 more
GUncertain significance
KLHL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2D
+1 more
GUncertain significance
KLHL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2D
+1 more
GBenign
KLHL3
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant pseudohypoaldosteronism type 1
+1 more
GUncertain significance
KLHL3
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant pseudohypoaldosteronism type 1
+1 more
GUncertain significance
KLHL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2D
+1 more
GBenign/Likely benign
KLHL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2D
+1 more
GBenign/Likely benign
KLHL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2D
+1 more
GConflicting classifications of pathogenicity
KLHL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2D
+2 more
GBenign
KLHL3
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant pseudohypoaldosteronism type 1
+1 more
GUncertain significance
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