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Items: 1 to 100 of 466

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AAMP, ABCA12
+1703 more
Copy number gain
See cases
GPathogenic
ABCA12, ABCB6
+1687 more
Copy number gain
See cases
GPathogenic
AAMP, ABCA12
+1665 more
Copy number gain
See cases
GPathogenic
LOC126806461, LOC126806467
+1299 more
Copy number gain
See cases
GPathogenic
OR6B3, OTOS
+1148 more
Copy number gain
See cases
GPathogenic
AAMP, ABCB6
+986 more
Copy number gain
See cases
GPathogenic
ABCB6, ACSL3
+195 more
Copy number loss
See cases
GPathogenic
CCDC195, CUL3
+17 more
Copy number loss
See cases
GUncertain significance
CUL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2E
+1 more
GUncertain significance
CUL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2E
+1 more
GBenign
CUL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2E
GBenign
CUL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2E
GUncertain significance
CUL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2E
GUncertain significance
CUL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2E
GUncertain significance
CUL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2E
+1 more
GBenign
CUL3
Duplication
(3 prime UTR variant)
Autosomal dominant pseudohypoaldosteronism type 1
GUncertain significance
CUL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2E
+1 more
GUncertain significance
CUL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2E
+1 more
GConflicting classifications of pathogenicity
CUL3
Deletion
(3 prime UTR variant)
Autosomal dominant pseudohypoaldosteronism type 1
GBenign
CUL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2E
+1 more
GBenign
CUL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2E
+1 more
GConflicting classifications of pathogenicity
CUL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2E
GUncertain significance
CUL3
Deletion
(3 prime UTR variant)
Autosomal dominant pseudohypoaldosteronism type 1
GLikely benign
CUL3
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant pseudohypoaldosteronism type 1
+1 more
GBenign/Likely benign
CUL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2E
+1 more
GUncertain significance
CUL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2E
+1 more
GBenign
CUL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2E
+1 more
GBenign/Likely benign
CUL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2E
+1 more
GBenign
CUL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2E
GUncertain significance
CUL3
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant pseudohypoaldosteronism type 1
GUncertain significance
CUL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2E
+1 more
GUncertain significance
CUL3
Deletion
(3 prime UTR variant)
Autosomal dominant pseudohypoaldosteronism type 1
GUncertain significance
CUL3
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign/Likely benign
CUL3
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant pseudohypoaldosteronism type 1
+1 more
GBenign/Likely benign
CUL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2E
+1 more
GBenign/Likely benign
CUL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2E
+1 more
GUncertain significance
CUL3
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant pseudohypoaldosteronism type 1
+1 more
GBenign/Likely benign
CUL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2E
+1 more
GUncertain significance
CUL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2E
GUncertain significance
CUL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2E
+1 more
GUncertain significance
CUL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2E
+1 more
GUncertain significance
CUL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2E
GUncertain significance
CUL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2E
+1 more
GBenign
CUL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2E
+1 more
GUncertain significance
CUL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2E
GUncertain significance
CUL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2E
+1 more
GUncertain significance
CUL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2E
+1 more
GBenign
CUL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2E
+1 more
GUncertain significance
CUL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2E
GUncertain significance
CUL3
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CUL3
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant pseudohypoaldosteronism type 1
+1 more
GUncertain significance
CUL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2E
+1 more
GBenign
CUL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2E
+1 more
GBenign
CUL3
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant pseudohypoaldosteronism type 1
+2 more
GConflicting classifications of pathogenicity
CUL3
Duplication
(3 prime UTR variant)
Autosomal dominant pseudohypoaldosteronism type 1
GLikely benign
CUL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2E
+1 more
GUncertain significance
CUL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2E
+1 more
GBenign
CUL3
Deletion
(3 prime UTR variant)
Autosomal dominant pseudohypoaldosteronism type 1
GUncertain significance
CUL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2E
GUncertain significance
CUL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2E
GUncertain significance
CUL3
Deletion
(3 prime UTR variant)
Autosomal dominant pseudohypoaldosteronism type 1
+1 more
GBenign/Likely benign
CUL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2E
GUncertain significance
CUL3
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant pseudohypoaldosteronism type 1
+1 more
GBenign/Likely benign
CUL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2E
+1 more
GBenign
CUL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2E
+1 more
GUncertain significance
CUL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2E
+1 more
GUncertain significance
CUL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2E
+1 more
GUncertain significance
CUL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2E
+1 more
GBenign/Likely benign
CUL3
Microsatellite
(3 prime UTR variant)
Autosomal dominant pseudohypoaldosteronism type 1
GUncertain significance
CUL3
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant pseudohypoaldosteronism type 1
+1 more
GBenign/Likely benign
CUL3
Deletion
(3 prime UTR variant)
Autosomal dominant pseudohypoaldosteronism type 1
GLikely benign
CUL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2E
+1 more
GBenign
CUL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2E
GUncertain significance
CUL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2E
+1 more
GUncertain significance
CUL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2E
+1 more
GBenign/Likely benign
CUL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2E
GUncertain significance
CUL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2E
GUncertain significance
CUL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2E
GUncertain significance
CUL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2E
GUncertain significance
CUL3
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
CUL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2E
GUncertain significance
CUL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2E
+1 more
GUncertain significance
CUL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2E
GUncertain significance
CUL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2E
GUncertain significance
CUL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2E
GUncertain significance
CUL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2E
GUncertain significance
CUL3
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant pseudohypoaldosteronism type 1
+2 more
GConflicting classifications of pathogenicity
CUL3
Deletion
(3 prime UTR variant)
Autosomal dominant pseudohypoaldosteronism type 1
GLikely benign
CUL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2E
+1 more
GUncertain significance
CUL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2E
GBenign
CUL3
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant pseudohypoaldosteronism type 1
+1 more
GConflicting classifications of pathogenicity
CUL3
Single nucleotide variant
(3 prime UTR variant)
Pseudohypoaldosteronism type 2E
GUncertain significance
CUL3
(T699A +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without autism or seizures
GUncertain significance
CUL3
(K768R +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CUL3
(R761C +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CUL3
(R690Q +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CUL3
(R690* +2 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
CUL3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CUL3
(I749T +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CUL3
(I683fs +2 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
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