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Items: 1 to 100 of 341

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AADAT, ABCE1
+1310 more
Copy number gain
See cases
GPathogenic
AADAT, ABCE1
+1245 more
Copy number gain
See cases
GPathogenic
QKILA, RAB33B
+1102 more
Copy number gain
See cases
GPathogenic
LOC129993091, LOC129993092
+1068 more
Copy number gain
See cases
GPathogenic
LOC132090717, LOC132090718
+1051 more
Copy number gain
See cases
GPathogenic
LOC129993335, LOC129993336
+1026 more
Copy number gain
See cases
GPathogenic
ABCE1, ANAPC10
+214 more
Copy number gain
See cases
GPathogenic
ABCE1, ANAPC10
+123 more
Copy number loss
See cases
GPathogenic
ABCE1, ANAPC10
+111 more
Copy number loss
See cases
GLikely pathogenic
AADAT, ABCE1
+903 more
Copy number gain
See cases
GPathogenic
LOC123493228, LOC123493229
+481 more
Copy number gain
See cases
GPathogenic
ARHGAP10, EDNRA
+21 more
Duplication
not specified
GUncertain significance
ARHGAP10, LOC110121259
+3 more
Copy number loss
See cases
GLikely pathogenic
NR3C2
Single nucleotide variant
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)
not provided
+1 more
GBenign
NR3C2
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GBenign
NR3C2
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
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
GBenign
NR3C2
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
GBenign
NR3C2
Duplication
(3 prime UTR variant +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
GUncertain significance
NR3C2
Microsatellite
(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
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
Duplication
(3 prime UTR variant +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
GLikely benign
NR3C2
Microsatellite
(3 prime UTR variant +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
GLikely benign
NR3C2
Duplication
(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
GBenign
NR3C2
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
GUncertain significance
NR3C2
Deletion
(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
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
(3 prime UTR 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
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
GBenign
NR3C2
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
+1 more
GUncertain significance
NR3C2
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
GBenign
NR3C2
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
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)
not provided
+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
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
+1 more
GUncertain significance
NR3C2
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+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
Insertion
(3 prime UTR variant +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
GUncertain significance
NR3C2
Deletion
(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)
not provided
+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
+1 more
GBenign
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
(L979P +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
GPathogenic
NR3C2
(P978L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NR3C2
(P978T +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NR3C2
(E972G +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
GPathogenic
NR3C2
(P852fs +1 more)
Duplication
(frameshift variant +1 more)
not provided
GLikely pathogenic
NR3C2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NR3C2
(A841fs +1 more)
Duplication
(frameshift variant +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
GPathogenic
NR3C2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
NR3C2
(V837I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NR3C2
(E948K +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NR3C2
(R830P +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
GUncertain significance
NR3C2
(R947* +1 more)
Single nucleotide variant
(nonsense +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
+1 more
GPathogenic
NR3C2
(D937N +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant pseudohypoaldosteronism type 1
+1 more
GUncertain significance
NR3C2
Duplication
(intron variant)
not provided
GLikely benign
NR3C2
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
NR3C2
Single nucleotide variant
(intron variant)
not provided
GBenign
NR3C2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NR3C2
Single nucleotide variant
(intron variant)
Pseudohyperaldosteronism type 2
GUncertain significance
NR3C2
Single nucleotide variant
(splice donor variant)
Inborn genetic diseases
GLikely pathogenic
NR3C2
(L924P +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
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