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Links from MedGen

Items: 1 to 100 of 333

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NR3C2
(A696V +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant pseudohypoaldosteronism type 1
GUncertain significance
NR3C2
(P451fs)
Deletion
(frameshift variant +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
GLikely pathogenic
NR3C2
(R732*)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic
NR3C2
(L769H +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
GLikely pathogenic
NR3C2
(W19*)
Single nucleotide variant
(nonsense +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
GUncertain significance
DCLK2, NR3C2
Deletion
Autosomal dominant pseudohypoaldosteronism type 1
GLikely pathogenic
NR3C2
(G607fs)
Indel
(frameshift variant +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
GPathogenic
NR3C2
(E35fs)
Deletion
(frameshift variant +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
GLikely pathogenic
NR3C2
(S600*)
Single nucleotide variant
(nonsense +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
GLikely pathogenic
NR3C2
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
NR3C2
(Q806* +1 more)
Single nucleotide variant
(nonsense +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
GLikely pathogenic
NR3C2
(R830P +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
GUncertain significance
NR3C2
(Q391R)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
+1 more
GUncertain significance
LOC129993215, NR3C2
Single nucleotide variant
(5 prime UTR variant +2 more)
Autosomal dominant pseudohypoaldosteronism type 1
GUncertain significance
LOC129993215, NR3C2
Single nucleotide variant
(5 prime UTR variant +2 more)
Autosomal dominant pseudohypoaldosteronism type 1
GUncertain significance
NR3C2
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
+1 more
GConflicting classifications of pathogenicity
NR3C2
(F460L)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
+1 more
GConflicting classifications of pathogenicity
NR3C2
(E505K)
Single nucleotide variant
(missense variant +1 more)
Pseudohyperaldosteronism type 2
+1 more
GUncertain significance
NR3C2
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
GLikely benign
NR3C2
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
GUncertain significance
NR3C2
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
GUncertain significance
NR3C2
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
GUncertain significance
NR3C2
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
GUncertain significance
NR3C2
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
GUncertain significance
NR3C2
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
GLikely benign
NR3C2
Single nucleotide variant
(5 prime UTR variant +2 more)
Autosomal dominant pseudohypoaldosteronism type 1
GUncertain significance
NR3C2
(T34A)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
NR3C2
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
GUncertain significance
NR3C2
Single nucleotide variant
(intron variant)
Autosomal dominant pseudohypoaldosteronism type 1
+1 more
GConflicting classifications of pathogenicity
NR3C2
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
GUncertain significance
NR3C2
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
GUncertain significance
NR3C2
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
GUncertain significance
NR3C2
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
GUncertain significance
NR3C2
(P72R)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
GUncertain significance
NR3C2
(C73Y)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
NR3C2
(V112L)
Single nucleotide variant
(missense variant +1 more)
Pseudohyperaldosteronism type 2
+1 more
GUncertain significance
NR3C2
(Q135H)
Single nucleotide variant
(missense variant +1 more)
Pseudohyperaldosteronism type 2
+1 more
GBenign/Likely benign
NR3C2
(H685Q)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
GUncertain significance
NR3C2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
NR3C2
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
+1 more
GBenign
NR3C2
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
GUncertain significance
NR3C2
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
GUncertain significance
NR3C2
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
GUncertain significance
NR3C2
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
GUncertain significance
NR3C2
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
GUncertain significance
NR3C2
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
GUncertain significance
NR3C2
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
GUncertain significance
NR3C2
(S274R)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
GUncertain significance
NR3C2
(S312G)
Single nucleotide variant
(missense variant +1 more)
Pseudohyperaldosteronism type 2
+1 more
GUncertain significance
NR3C2
(S352Y)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
GLikely benign
NR3C2
(T364S)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
GUncertain significance
NR3C2
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
GUncertain significance
NR3C2
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
GUncertain significance
NR3C2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
NR3C2
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
GUncertain significance
NR3C2
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
GLikely benign
NR3C2
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
GUncertain significance
NR3C2
(N444T)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
+1 more
GBenign
NR3C2
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
NR3C2
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
+2 more
GLikely benign
NR3C2
(N256S)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign
NR3C2
(L886R +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
GLikely pathogenic
NR3C2
(Q919* +1 more)
Single nucleotide variant
(nonsense +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
+1 more
GPathogenic/Likely pathogenic
CUL3
(Y58C +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
+1 more
GPathogenic/Likely pathogenic
NR3C2
(P699fs)
Deletion
(frameshift variant +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
GLikely pathogenic
NR3C2
(R651*)
Single nucleotide variant
(nonsense +1 more)
NR3C2-related disorder
+3 more
GPathogenic
NR3C2
Single nucleotide variant
Autosomal dominant pseudohypoaldosteronism type 1
GLikely benign
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
+2 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)
not provided
+2 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)
Pseudohypoaldosteronism type 2D
+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)
Pseudohypoaldosteronism type 2D
+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)
Pseudohypoaldosteronism type 2D
+2 more
GLikely benign
KLHL3
Single nucleotide variant
(synonymous variant)
Pseudohypoaldosteronism type 2D
+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)
Pseudohypoaldosteronism type 2D
+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
Microsatellite
(3 prime UTR variant)
Autosomal dominant pseudohypoaldosteronism type 1
+1 more
GUncertain significance
KLHL3
Microsatellite
(3 prime UTR variant)
not provided
+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
Deletion
(3 prime UTR variant)
Autosomal dominant pseudohypoaldosteronism type 1
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
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