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Items: 1 to 100 of 722

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130000015, LOC130000016
+3658 more
Copy number gain
See cases
GPathogenic
DEFA1B, DEFA3
+3658 more
Copy number gain
See cases
GPathogenic
LOC110121192, LOC110121196
+3656 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3652 more
Copy number gain
See cases
GPathogenic
LOC130000067, LOC130000068
+3656 more
Copy number gain
See cases
GPathogenic
GPAT4, GPAT4-AS1
+3106 more
Copy number gain
See cases
GPathogenic
PARP10, PCAT1
+1690 more
Copy number gain
See cases
GPathogenic
LOC130000867, LOC130000868
+1686 more
Copy number gain
See cases
GPathogenic
LOC130001282, LOC130001283
+1552 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+1531 more
Copy number gain
See cases
GPathogenic
LOC130000908, LOC130000909
+1406 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+1329 more
Copy number gain
See cases
GPathogenic
LOC130001243, LOC130001244
+1204 more
Copy number gain
See cases
GPathogenic
LOC130001328, LOC130001329
+1067 more
Copy number gain
See cases
GPathogenic
LOC114827840, LOC121331310
+961 more
Copy number gain
See cases
GPathogenic
ADCK5, ADCY8
+746 more
Copy number gain
See cases
GPathogenic
LOC129390060, LOC129929031
+745 more
Copy number gain
See cases
GPathogenic
ADCK5, ADCY8
+567 more
Copy number gain
See cases
GPathogenic
LOC126860527, LOC126860528
+499 more
Copy number gain
See cases
GPathogenic
LOC130001259, LOC130001260
+373 more
Copy number gain
See cases
GLikely pathogenic
MIR10400, MIR1234
+375 more
Copy number gain
See cases
GLikely pathogenic
ADGRB1, ARC
+172 more
Copy number loss
See cases
GPathogenic
ADGRB1, ARC
+140 more
Copy number loss
See cases
GPathogenic
LOC110673972, CYP11B1
+3 more
Deletion
not provided
GPathogenic
CYP11B2, LOC106799834
Single nucleotide variant
(3 prime UTR variant)
Corticosterone 18-monooxygenase deficiency
+2 more
GUncertain significance
CYP11B2, LOC106799834
Single nucleotide variant
(3 prime UTR variant)
Corticosterone 18-monooxygenase deficiency
+2 more
GUncertain significance
CYP11B2, LOC106799834
Deletion
(3 prime UTR variant)
Corticosterone 18-monooxygenase deficiency
+2 more
GLikely benign
CYP11B2, LOC106799834
Single nucleotide variant
(3 prime UTR variant)
Corticosterone 18-monooxygenase deficiency
+2 more
GBenign
CYP11B2, LOC106799834
Single nucleotide variant
(3 prime UTR variant)
Corticosterone 18-monooxygenase deficiency
+2 more
GUncertain significance
CYP11B2, LOC106799834
Single nucleotide variant
(3 prime UTR variant)
Corticosterone 18-monooxygenase deficiency
+2 more
GUncertain significance
CYP11B2, LOC106799834
Single nucleotide variant
(3 prime UTR variant)
Corticosterone 18-monooxygenase deficiency
+2 more
GUncertain significance
CYP11B2, LOC106799834
Single nucleotide variant
(3 prime UTR variant)
Corticosterone 18-monooxygenase deficiency
+2 more
GUncertain significance
CYP11B2, LOC106799834
Single nucleotide variant
(3 prime UTR variant)
Corticosterone 18-monooxygenase deficiency
+2 more
GUncertain significance
CYP11B2, LOC106799834
Single nucleotide variant
(3 prime UTR variant)
Corticosterone 18-monooxygenase deficiency
+2 more
GUncertain significance
CYP11B2, LOC106799834
Single nucleotide variant
(3 prime UTR variant)
Corticosterone 18-monooxygenase deficiency
+2 more
GUncertain significance
CYP11B2, LOC106799834
Single nucleotide variant
(3 prime UTR variant)
Corticosterone 18-monooxygenase deficiency
+2 more
GUncertain significance
CYP11B2, LOC106799834
Single nucleotide variant
(3 prime UTR variant)
Corticosterone 18-monooxygenase deficiency
+2 more
GBenign
CYP11B2, LOC106799834
Single nucleotide variant
(3 prime UTR variant)
Corticosterone 18-monooxygenase deficiency
+2 more
GUncertain significance
CYP11B2, LOC106799834
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GBenign
LOC106799834, CYP11B2
Single nucleotide variant
(3 prime UTR variant)
Corticosterone 18-monooxygenase deficiency
+2 more
GUncertain significance
CYP11B2, LOC106799834
Single nucleotide variant
(3 prime UTR variant)
Corticosterone 18-monooxygenase deficiency
+2 more
GUncertain significance
CYP11B2, LOC106799834
Single nucleotide variant
(3 prime UTR variant)
Corticosterone 18-monooxygenase deficiency
+2 more
GConflicting classifications of pathogenicity
CYP11B2, LOC106799834
Single nucleotide variant
(3 prime UTR variant)
Corticosterone 18-monooxygenase deficiency
+2 more
GConflicting classifications of pathogenicity
CYP11B2, LOC106799834
Single nucleotide variant
(3 prime UTR variant)
Corticosterone 18-monooxygenase deficiency
+2 more
GBenign
CYP11B2, LOC106799834
Single nucleotide variant
(3 prime UTR variant)
Corticosterone 18-monooxygenase deficiency
+2 more
GBenign
CYP11B2, LOC106799834
Single nucleotide variant
(3 prime UTR variant)
Corticosterone 18-monooxygenase deficiency
+2 more
GUncertain significance
CYP11B2, LOC106799834
Single nucleotide variant
(3 prime UTR variant)
Corticosterone 18-monooxygenase deficiency
+2 more
GUncertain significance
CYP11B2, LOC106799834
Single nucleotide variant
(3 prime UTR variant)
Corticosterone 18-monooxygenase deficiency
+2 more
GUncertain significance
CYP11B2, LOC106799834
Single nucleotide variant
(3 prime UTR variant)
Corticosterone methyloxidase type 2 deficiency
+2 more
GUncertain significance
CYP11B2, LOC106799834
Duplication
(3 prime UTR variant)
Corticosterone 18-monooxygenase deficiency
+2 more
GBenign
CYP11B2, LOC106799834
Single nucleotide variant
(3 prime UTR variant)
Corticosterone 18-monooxygenase deficiency
+2 more
GBenign
CYP11B2, LOC106799834
Single nucleotide variant
(3 prime UTR variant)
Corticosterone 18-monooxygenase deficiency
+2 more
GUncertain significance
CYP11B2, LOC106799834
Single nucleotide variant
(3 prime UTR variant)
Corticosterone 18-monooxygenase deficiency
+2 more
GUncertain significance
CYP11B2, LOC106799834
Single nucleotide variant
(3 prime UTR variant)
Corticosterone 18-monooxygenase deficiency
+2 more
GBenign
CYP11B2, LOC106799834
Single nucleotide variant
(3 prime UTR variant)
Corticosterone 18-monooxygenase deficiency
+2 more
GUncertain significance
CYP11B2, LOC106799834
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP11B2, LOC106799834
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP11B2, LOC106799834
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP11B2, LOC106799834
(T498A)
Single nucleotide variant
(missense variant)
CYP11B2-related disorder
GLikely pathogenic
CYP11B2, LOC106799834
(L496fs)
Deletion
(frameshift variant)
not provided
GPathogenic
CYP11B2, LOC106799834
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP11B2, LOC106799834
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC106799834, CYP11B2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP11B2, LOC106799834
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP11B2, LOC106799834
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP11B2, LOC106799834
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP11B2, LOC106799834
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP11B2, LOC106799834
(Y485C)
Single nucleotide variant
(missense variant)
Corticosterone 18-monooxygenase deficiency
+2 more
GUncertain significance
CYP11B2, LOC106799834
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP11B2, LOC106799834
(I481L)
Single nucleotide variant
(missense variant)
Corticosterone 18-monooxygenase deficiency
+2 more
GUncertain significance
CYP11B2, LOC106799834
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP11B2, LOC106799834
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP11B2, LOC106799834
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC106799834, CYP11B2
(E474K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CYP11B2, LOC106799834
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP11B2, LOC106799834
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP11B2, LOC106799834
(V467M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYP11B2, LOC106799834
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CYP11B2, LOC106799834
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CYP11B2, LOC106799834
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CYP11B2, LOC106799834
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CYP11B2, LOC106799834
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CYP11B2, LOC106799834
Deletion
(intron variant)
not provided
GLikely benign
CYP11B2, LOC106799834
Deletion
(intron variant)
not provided
GBenign
CYP11B2, LOC106799834
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CYP11B2, LOC106799834
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CYP11B2, LOC106799834
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CYP11B2, LOC106799834
Single nucleotide variant
(intron variant)
Corticosterone 18-monooxygenase deficiency
+3 more
GConflicting classifications of pathogenicity
CYP11B2, LOC106799834
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CYP11B2, LOC106799834
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CYP11B2, LOC106799834
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CYP11B2, LOC106799834
Single nucleotide variant
(splice donor variant)
Corticosterone 18-monooxygenase deficiency
GUncertain significance
CYP11B2, LOC106799834
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
CYP11B2, LOC106799834
Single nucleotide variant
(splice donor variant)
Corticosterone 18-monooxygenase deficiency
+2 more
GPathogenic/Likely pathogenic
CYP11B2, LOC106799834
Microsatellite
(inframe_insertion)
not provided
GLikely pathogenic
CYP11B2, LOC106799834
(H465Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CYP11B2, LOC106799834
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP11B2, LOC106799834
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP11B2, LOC106799834
(L461P)
Single nucleotide variant
(missense variant)
Corticosterone 18-monooxygenase deficiency
GPathogenic
CYP11B2, LOC106799834
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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