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Links from MedGen

Items: 1 to 100 of 124

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CUL3
Single nucleotide variant
(intron variant)
Pseudohypoaldosteronism type 2E
GUncertain significance
CUL3
(H477fs +2 more)
Microsatellite
(frameshift variant)
Pseudohypoaldosteronism type 2E
+1 more
GLikely pathogenic
CUL3
(Q122R +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without autism or seizures
+2 more
GUncertain significance
CUL3
(V112I +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without autism or seizures
+3 more
GUncertain significance
CUL3
(A148G +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism type 2E
GPathogenic
CUL3
(N387fs +2 more)
Duplication
(frameshift variant)
Neurodevelopmental disorder with or without autism or seizures
+1 more
GConflicting classifications of pathogenicity
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
(5 prime UTR variant)
Pseudohypoaldosteronism type 2E
GUncertain significance
CUL3
Single nucleotide variant
(5 prime UTR variant)
Pseudohypoaldosteronism type 2E
GUncertain significance
CUL3
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GBenign/Likely benign
CUL3
Single nucleotide variant
(5 prime UTR variant)
Pseudohypoaldosteronism type 2E
GUncertain significance
CUL3
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CUL3
Single nucleotide variant
(5 prime UTR variant)
Pseudohypoaldosteronism type 2E
GBenign
CUL3
Single nucleotide variant
(5 prime UTR variant)
Pseudohypoaldosteronism type 2E
GUncertain significance
CUL3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
CUL3
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
CUL3
Single nucleotide variant
(synonymous 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
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
GBenign
CUL3
Single nucleotide variant
(5 prime UTR variant)
Pseudohypoaldosteronism type 2E
GUncertain significance
CUL3
Single nucleotide variant
(5 prime UTR variant)
Pseudohypoaldosteronism type 2E
GUncertain significance
CUL3
Single nucleotide variant
(5 prime UTR variant)
Pseudohypoaldosteronism type 2E
GUncertain significance
CUL3
Single nucleotide variant
(5 prime UTR variant)
Pseudohypoaldosteronism type 2E
GBenign
CUL3
Single nucleotide variant
(5 prime UTR variant)
Pseudohypoaldosteronism type 2E
GUncertain significance
CUL3
Single nucleotide variant
(5 prime UTR variant)
Pseudohypoaldosteronism type 2E
GUncertain significance
CUL3, LOC129935709
Single nucleotide variant
(5 prime UTR variant)
Pseudohypoaldosteronism type 2E
GUncertain significance
CUL3, LOC129935709
Single nucleotide variant
(5 prime UTR variant)
Pseudohypoaldosteronism type 2E
GUncertain significance
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
GUncertain significance
CUL3, LOC129935709
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
CUL3
Single nucleotide variant
(synonymous variant)
Pseudohypoaldosteronism type 2E
+2 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)
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
(intron variant)
Pseudohypoaldosteronism type 2E
GUncertain significance
CUL3
(Q349R +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism type 2E
+1 more
GUncertain significance
CUL3
Single nucleotide variant
(synonymous variant)
Pseudohypoaldosteronism type 2E
+1 more
GConflicting classifications of pathogenicity
CUL3
Single nucleotide variant
(synonymous variant)
Pseudohypoaldosteronism type 2E
GUncertain significance
CUL3
Single nucleotide variant
(synonymous variant)
CUL3-related condition
+2 more
GBenign/Likely benign
CUL3
Single nucleotide variant
(synonymous 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
(L165fs +2 more)
Microsatellite
(frameshift variant)
Neurodevelopmental disorder with or without autism or seizures
+3 more
GPathogenic/Likely pathogenic
CUL3
Single nucleotide variant
(intron variant)
Pseudohypoaldosteronism type 2E
+3 more
GBenign/Likely benign
CUL3
(L102I +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism type 2E
+1 more
GUncertain significance
CUL3
(T104S +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism type 2E
+1 more
GUncertain significance
CUL3
Single nucleotide variant
(synonymous variant)
Pseudohypoaldosteronism type 2E
+2 more
GBenign/Likely benign
CUL3
Single nucleotide variant
(synonymous variant)
Pseudohypoaldosteronism type 2E
+3 more
GBenign/Likely benign
CUL3
Single nucleotide variant
(intron variant)
Pseudohypoaldosteronism type 2E
+3 more
GBenign/Likely benign
CUL3
Single nucleotide variant
(synonymous variant)
Autosomal dominant pseudohypoaldosteronism type 1
+3 more
GBenign/Likely benign
CUL3
Single nucleotide variant
(intron variant)
Pseudohypoaldosteronism type 2E
+3 more
GBenign/Likely benign
CUL3
Single nucleotide variant
(synonymous variant)
Pseudohypoaldosteronism type 2E
+4 more
GBenign/Likely benign
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
+1 more
GUncertain significance
CUL3
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant pseudohypoaldosteronism type 1
+2 more
GConflicting classifications of pathogenicity
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
+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)
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)
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
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)
Autosomal dominant pseudohypoaldosteronism type 1
+2 more
GConflicting classifications of pathogenicity
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
+1 more
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)
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
+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
+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)
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/Likely benign
CUL3
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant pseudohypoaldosteronism type 1
+1 more
GBenign/Likely benign
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