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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
A2ML1, A2ML1-AS1
+477 more
Deletion
Tumoral calcinosis, hyperphosphatemic, familial, 1
Gnot provided
LOC130007151, WNK1
Deletion
Pseudohypoaldosteronism type 2C
GPathogenic
WNK1
Deletion
Pseudohypoaldosteronism type 2C
GPathogenic
WNK1
(E899fs +1 more)
Deletion
(frameshift variant +1 more)
Pseudohypoaldosteronism type 2C
+1 more
GPathogenic
WNK1
(S1008fs +1 more)
Duplication
(frameshift variant +1 more)
Neuropathy, hereditary sensory and autonomic, type 2A
+1 more
GPathogenic
WNK1
(Q1101* +1 more)
Single nucleotide variant
(nonsense +1 more)
Inborn genetic diseases
GPathogenic
WNK1
(D1080* +1 more)
Duplication
(nonsense +1 more)
Inborn genetic diseases
GPathogenic
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