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Links from MedGen

Items: 67

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
WNK4
(P946R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
WNK4
Single nucleotide variant
(5 prime UTR variant +1 more)
Pseudohypoaldosteronism type 2A
GLikely benign
WNK1
(Q2042H +3 more)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 2
+1 more
GUncertain significance
WNK1
(S1536del +3 more)
Deletion
(inframe_deletion)
Inborn genetic diseases
+5 more
GBenign/Likely benign
WNK1
Single nucleotide variant
(synonymous variant +1 more)
Hereditary sensory and autonomic neuropathy type 2
+4 more
GConflicting classifications of pathogenicity
WNK1
(T875R)
Single nucleotide variant
(missense variant +1 more)
Pseudohypoaldosteronism type 2A
+1 more
GLikely benign
WNK1
Duplication
(intron variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+4 more
GBenign
WNK1
Single nucleotide variant
(5 prime UTR variant)
Hereditary sensory and autonomic neuropathy type 2
+1 more
GUncertain significance
WNK1
Duplication
(5 prime UTR variant)
Hereditary sensory and autonomic neuropathy type 2
+1 more
GUncertain significance
WNK1
Duplication
(3 prime UTR variant)
Pseudohypoaldosteronism type 2A
+1 more
GLikely benign
WNK1
Duplication
(3 prime UTR variant)
Pseudohypoaldosteronism type 2A
+1 more
GUncertain significance
WNK1
Duplication
(3 prime UTR variant)
Hereditary sensory and autonomic neuropathy type 2
+1 more
GUncertain significance
WNK1
Duplication
(3 prime UTR variant)
Hereditary sensory and autonomic neuropathy type 2
+1 more
GUncertain significance
WNK1
Microsatellite
(3 prime UTR variant)
Pseudohypoaldosteronism type 2A
GLikely benign
WNK1
Microsatellite
(3 prime UTR variant)
Hereditary sensory and autonomic neuropathy type 2
+1 more
GUncertain significance
WNK1
Duplication
(3 prime UTR variant)
Hereditary sensory and autonomic neuropathy type 2
+1 more
GUncertain significance
WNK1
Microsatellite
(3 prime UTR variant)
Hereditary sensory and autonomic neuropathy type 2
+1 more
GLikely benign
WNK1
Deletion
(3 prime UTR variant)
Hereditary sensory and autonomic neuropathy type 2
+1 more
GUncertain significance
WNK1
Deletion
(3 prime UTR variant)
Pseudohypoaldosteronism type 2A
+1 more
GUncertain significance
WNK1
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2A
+1 more
GLikely benign
WNK1
Deletion
(3 prime UTR variant)
Hereditary sensory and autonomic neuropathy type 2
+1 more
GUncertain significance
WNK1
Microsatellite
(3 prime UTR variant)
Pseudohypoaldosteronism type 2A
+1 more
GUncertain significance
WNK1
Deletion
(3 prime UTR variant)
Pseudohypoaldosteronism type 2A
+1 more
GLikely benign
WNK1
Deletion
(3 prime UTR variant)
Pseudohypoaldosteronism type 2A
+1 more
GUncertain significance
WNK1
Duplication
(3 prime UTR variant)
Pseudohypoaldosteronism type 2A
+1 more
GUncertain significance
WNK1
Deletion
(3 prime UTR variant)
Pseudohypoaldosteronism type 2A
GLikely benign
CUL3
Single nucleotide variant
(synonymous variant)
Pseudohypoaldosteronism type 2A
GLikely pathogenic
WNK1
(I2164L +3 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 2A
+5 more
GConflicting classifications of pathogenicity
KLHL3
(S432N +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism type 2D
GLikely pathogenic
KLHL3
(R575W +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism type 2A
GPathogenic
KLHL3
(R431Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLHL3
(R384Q +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism type 2A
GPathogenic
KLHL3
(Q309R +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism type 2A
GPathogenic
KLHL3
(Q144* +2 more)
Single nucleotide variant
(nonsense)
Pseudohypoaldosteronism type 2A
GPathogenic
KLHL3
(P501T +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism type 2A
GPathogenic
KLHL3
(M78V +1 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism type 2A
GPathogenic
KLHL3
(M427T +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism type 2A
GPathogenic
KLHL3
(L387P +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism type 2D
GUncertain significance
KLHL3
(E85A +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism type 2A
GPathogenic
KLHL3
(C164F +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism type 2A
GPathogenic
KLHL3
(A77E +1 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism type 2A
GPathogenic
KLHL3
(A494T +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism type 2A
GPathogenic
KLHL3
(A340V +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KLHL3
Single nucleotide variant
(splice donor variant)
Pseudohypoaldosteronism type 2A
GPathogenic
KLHL3
(L241fs +2 more)
Deletion
(frameshift variant)
Pseudohypoaldosteronism type 2A
GPathogenic
KLHL3
(W470* +2 more)
Single nucleotide variant
(nonsense)
Pseudohypoaldosteronism type 2A
+1 more
GPathogenic
CUL3
Single nucleotide variant
(intron variant)
Pseudohypoaldosteronism type 2A
GPathogenic
CUL3
Single nucleotide variant
(splice donor variant)
Pseudohypoaldosteronism type 2A
GPathogenic
CUL3
Duplication
(splice donor variant)
Pseudohypoaldosteronism type 2A
GPathogenic
CUL3
Deletion
(splice donor variant)
Pseudohypoaldosteronism type 2A
GPathogenic
CUL3
(K459R +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism type 2A
GPathogenic
CUL3
Single nucleotide variant
(synonymous variant)
Pseudohypoaldosteronism type 2A
GPathogenic
CUL3
Single nucleotide variant
(intron variant)
Pseudohypoaldosteronism type 2E
+1 more
GPathogenic
CUL3
Single nucleotide variant
(intron variant)
Pseudohypoaldosteronism type 2E
+1 more
GPathogenic
CUL3
Single nucleotide variant
(intron variant)
Pseudohypoaldosteronism type 2E
+1 more
GPathogenic
CUL3
Single nucleotide variant
(intron variant)
Pseudohypoaldosteronism type 2A
+1 more
GPathogenic
CUL3
Single nucleotide variant
(splice acceptor variant)
Pseudohypoaldosteronism type 2E
+1 more
GPathogenic
CUL3
Single nucleotide variant
(intron variant)
Pseudohypoaldosteronism type 2A
+1 more
GPathogenic
KLHL3
(S433N +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism type 2D
+1 more
GPathogenic
KLHL3
(R528C +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism type 2D
GPathogenic/Likely pathogenic
KLHL3
(Y557C +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KLHL3
(R336I +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism type 2D
+1 more
GPathogenic
KLHL3
(R240* +2 more)
Single nucleotide variant
(nonsense)
Pseudohypoaldosteronism type 2D
GPathogenic
KLHL3
(R528H +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
KLHL3
(S410L +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism type 2D
+1 more
GPathogenic
KLHL3
(F322C +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism type 2D
+1 more
GPathogenic
CUL3
(D413G +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism type 2E
+1 more
GPathogenic
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