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Links from MedGen

Items: 1 to 100 of 149

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CYP11B2, LOC106799834
(R181P)
Single nucleotide variant
(missense variant)
Corticosterone methyloxidase type 2 deficiency
+1 more
GConflicting classifications of pathogenicity
CYP11B2, LOC106799834
(Q338*)
Single nucleotide variant
(nonsense)
Corticosterone methyloxidase type 2 deficiency
GPathogenic
CYP11B2, LOC106799834
(K175del)
Microsatellite
(inframe_deletion)
not provided
+1 more
GLikely pathogenic
CYP11B2, LOC106799834
Single nucleotide variant
(splice acceptor variant)
not provided
+2 more
GPathogenic
CYP11B2, LOC106799834
(E228*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
CYP11B1, CYP11B2
Copy number loss
Corticosterone 18-monooxygenase deficiency
+1 more
GPathogenic
CYP11B2, LOC106799834
Single nucleotide variant
(intron variant)
Corticosterone 18-monooxygenase deficiency
+1 more
GBenign
LOC106799834, CYP11B2
Single nucleotide variant
(intron variant)
Corticosterone 18-monooxygenase deficiency
+1 more
GBenign
CYP11B2, LOC106799834
Single nucleotide variant
(intron variant)
Corticosterone methyloxidase type 2 deficiency
+1 more
GBenign
CYP11B2, LOC106799834
Single nucleotide variant
(intron variant)
Corticosterone 18-monooxygenase deficiency
+1 more
GBenign
CYP11B2, LOC106799834
Single nucleotide variant
(intron variant)
Corticosterone 18-monooxygenase deficiency
+2 more
GBenign
CYP11B2, LOC106799834
Single nucleotide variant
(intron variant)
Corticosterone 18-monooxygenase deficiency
+1 more
GBenign
CYP11B2, LOC106799834
Single nucleotide variant
(intron variant)
Corticosterone methyloxidase type 2 deficiency
+1 more
GBenign
CYP11B2, LOC106799834
Single nucleotide variant
(intron variant)
Corticosterone methyloxidase type 2 deficiency
+1 more
GBenign
CYP11B2, LOC106799834
Single nucleotide variant
(intron variant)
Corticosterone methyloxidase type 2 deficiency
+1 more
GBenign
CYP11B2, LOC106799834
Single nucleotide variant
(intron variant)
Corticosterone 18-monooxygenase deficiency
+1 more
GBenign
CYP11B2, LOC106799834
Single nucleotide variant
(intron variant)
Corticosterone 18-monooxygenase deficiency
+1 more
GBenign
LOC106799834, CYP11B2
Single nucleotide variant
(intron variant)
Corticosterone 18-monooxygenase deficiency
+1 more
GBenign
CYP11B2, LOC106799834
Single nucleotide variant
(intron variant)
Corticosterone 18-monooxygenase deficiency
+1 more
GBenign
CYP11B2, LOC106799834
Single nucleotide variant
(intron variant)
Corticosterone 18-monooxygenase deficiency
+1 more
GBenign
CYP11B2, LOC106799834
(A414P)
Indel
(missense variant)
not provided
+2 more
GLikely benign
CYP11B2, LOC106799834
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
CYP11B2, LOC106799834
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
CYP11B2, LOC106799834
Single nucleotide variant
(synonymous variant)
Corticosterone methyloxidase type 2 deficiency
+2 more
GLikely benign
CYP11B2, LOC106799834
Single nucleotide variant
(intron variant)
not provided
+2 more
GLikely benign
CYP11B2, LOC106799834
Single nucleotide variant
(intron variant)
not provided
+2 more
GLikely benign
CYP11B2, LOC106799834
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
CYP11B2, LOC106799834
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
CYP11B2, LOC106799834
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
CYP11B2, LOC106799834
(R20K)
Single nucleotide variant
(missense variant)
Corticosterone 18-monooxygenase deficiency
+2 more
GUncertain significance
CYP11B2, LOC106799834
(T34M)
Single nucleotide variant
(missense variant)
Corticosterone 18-monooxygenase deficiency
+1 more
GUncertain significance
CYP11B2, LOC106799834
(V212A)
Single nucleotide variant
(missense variant)
Corticosterone 18-monooxygenase deficiency
+1 more
GUncertain significance
CYP11B2, LOC106799834
Single nucleotide variant
(intron variant)
Corticosterone 18-monooxygenase deficiency
+1 more
GUncertain significance
CYP11B2, LOC106799834
(F321I)
Single nucleotide variant
(missense variant)
Corticosterone 18-monooxygenase deficiency
+1 more
GUncertain significance
CYP11B2, LOC106799834
(S344G)
Single nucleotide variant
(missense variant)
Corticosterone 18-monooxygenase deficiency
+1 more
GUncertain significance
CYP11B2, LOC106799834
Single nucleotide variant
(synonymous variant)
Corticosterone 18-monooxygenase deficiency
+2 more
GLikely benign
CYP11B2, LOC106799834
(R366W)
Single nucleotide variant
(missense variant)
Corticosterone 18-monooxygenase deficiency
+1 more
GUncertain significance
CYP11B2, LOC106799834
(R422Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
CYP11B2, LOC106799834
(R282H)
Single nucleotide variant
(missense 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
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
(R143W)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
CYP11B2, LOC106799834
(S150L)
Single nucleotide variant
(missense variant)
Corticosterone 18-monooxygenase deficiency
+2 more
GUncertain significance
CYP11B2, LOC106799834
Single nucleotide variant
(intron variant)
Corticosterone 18-monooxygenase deficiency
+2 more
GUncertain significance
CYP11B2, LOC106799834
(F406V)
Single nucleotide variant
(missense 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
LOC106799834, CYP11B2
Single nucleotide variant
(synonymous variant)
Corticosterone methyloxidase type 2 deficiency
+3 more
GConflicting classifications of pathogenicity
CYP11B2, LOC106799834
(Y266D)
Single nucleotide variant
(missense variant)
Corticosterone 18-monooxygenase deficiency
+2 more
GUncertain significance
CYP11B2, LOC106799834
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
CYP11B2, LOC106799834
(R448H)
Single nucleotide variant
(missense variant)
Corticosterone methyloxidase type 2 deficiency
+3 more
GConflicting classifications of pathogenicity
CYP11B2, LOC106799834
Single nucleotide variant
(3 prime UTR variant)
Corticosterone methyloxidase type 2 deficiency
+2 more
GUncertain significance
CYP11B2, LOC106799834
(P94S)
Single nucleotide variant
(missense variant)
Corticosterone 18-monooxygenase deficiency
+2 more
GUncertain significance
CYP11B2, LOC106799834
(L327F)
Single nucleotide variant
(missense variant)
Corticosterone methyloxidase type 2 deficiency
+3 more
GConflicting classifications of pathogenicity
CYP11B2, LOC106799834
(G379V)
Single nucleotide variant
(missense variant)
Corticosterone 18-monooxygenase deficiency
+2 more
GUncertain significance
CYP11B2, LOC106799834
Single nucleotide variant
(intron variant)
Corticosterone 18-monooxygenase deficiency
+3 more
GConflicting classifications of pathogenicity
CYP11B2, LOC106799834
(I481L)
Single nucleotide variant
(missense variant)
Corticosterone 18-monooxygenase deficiency
+2 more
GUncertain significance
CYP11B2, LOC106799834
(Y485C)
Single nucleotide variant
(missense 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
(T318M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
LOC106799834, CYP11B2
Single nucleotide variant
(splice donor variant)
Corticosterone 18-monooxygenase deficiency
+2 more
GPathogenic/Likely pathogenic
CYP11B2, LOC106799834
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
CYP11B2, LOC106799834
Single nucleotide variant
(synonymous variant)
Corticosterone 18-monooxygenase deficiency
+2 more
GLikely benign
CYP11B2, LOC106799834
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
CYP11B2, LOC106799834
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
CYP11B2, LOC106799834
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
LOC106799834, CYP11B2
(I248T)
Single nucleotide variant
(missense variant)
Corticosterone methyloxidase type 2 deficiency
+3 more
GConflicting classifications of pathogenicity
CYP11B2, LOC106799834
Single nucleotide variant
(synonymous variant)
Corticosterone methyloxidase type 2 deficiency
+3 more
GConflicting classifications of pathogenicity
LOC106799834, CYP11B2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
CYP11B2, LOC106799834
Single nucleotide variant
(synonymous variant)
Corticosterone methyloxidase type 2 deficiency
+3 more
GBenign/Likely benign
LOC106799834, CYP11B2
Single nucleotide variant
(synonymous variant)
Corticosterone methyloxidase type 2 deficiency
+3 more
GConflicting classifications of pathogenicity
CYP11B2, LOC106799834
Single nucleotide variant
(synonymous variant)
Corticosterone 18-monooxygenase deficiency
+2 more
GLikely benign
CYP11B2, LOC106799834
(A29T)
Single nucleotide variant
(missense variant)
Corticosterone methyloxidase type 2 deficiency
+3 more
GBenign
CYP11B2, LOC106799834
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
LOC106799834, CYP11B2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
CYP11B2, LOC106799834
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GPathogenic
CYP11B2, LOC106799834
Single nucleotide variant
(splice donor variant)
not provided
+2 more
GPathogenic/Likely pathogenic
CYP11B2, LOC106799834
+1 more
Single nucleotide variant
Corticosterone methyloxidase type 2 deficiency
+2 more
GLikely benign
CYP11B2, LOC106799834
(R30Q)
Single nucleotide variant
(missense variant)
Glucocorticoid-remediable aldosteronism
+3 more
GBenign
CYP11B2, LOC106799834
Single nucleotide variant
(synonymous variant)
Glucocorticoid-remediable aldosteronism
+3 more
GBenign/Likely benign
CYP11B2, LOC106799834
(P86A)
Single nucleotide variant
(missense variant)
Glucocorticoid-remediable aldosteronism
+2 more
GConflicting classifications of pathogenicity
CYP11B2, LOC106799834
(A118T)
Single nucleotide variant
(missense variant)
Glucocorticoid-remediable aldosteronism
+4 more
GConflicting classifications of pathogenicity
CYP11B2, LOC106799834
Single nucleotide variant
(intron variant)
Glucocorticoid-remediable aldosteronism
+3 more
GConflicting classifications of pathogenicity
CYP11B2, LOC106799834
Single nucleotide variant
(synonymous variant)
Glucocorticoid-remediable aldosteronism
+3 more
GConflicting classifications of pathogenicity
CYP11B2, LOC106799834
(P159L)
Single nucleotide variant
(missense variant)
Glucocorticoid-remediable aldosteronism
+2 more
GLikely benign
CYP11B2, LOC106799834
Single nucleotide variant
(synonymous variant)
Glucocorticoid-remediable aldosteronism
+3 more
GConflicting classifications of pathogenicity
CYP11B2, LOC106799834
Single nucleotide variant
(synonymous variant)
Glucocorticoid-remediable aldosteronism
+4 more
GBenign
CYP11B2, LOC106799834
(K173R)
Single nucleotide variant
(missense variant)
Glucocorticoid-remediable aldosteronism
+4 more
GBenign
CYP11B2, LOC106799834
Single nucleotide variant
(synonymous variant)
Glucocorticoid-remediable aldosteronism
+3 more
GConflicting classifications of pathogenicity
CYP11B2, LOC106799834
(I197M)
Single nucleotide variant
(missense variant)
Glucocorticoid-remediable aldosteronism
+2 more
GUncertain significance
CYP11B2, LOC106799834
Single nucleotide variant
(intron variant)
Glucocorticoid-remediable aldosteronism
+3 more
GBenign/Likely benign
CYP11B2, LOC106799834
Single nucleotide variant
(intron variant)
Glucocorticoid-remediable aldosteronism
+2 more
GUncertain significance
CYP11B2, LOC106799834
Single nucleotide variant
(synonymous variant)
Glucocorticoid-remediable aldosteronism
+3 more
GBenign/Likely benign
CYP11B2, LOC106799834
(H214D)
Single nucleotide variant
(missense variant)
Glucocorticoid-remediable aldosteronism
+3 more
GBenign/Likely benign
CYP11B2, LOC106799834
(H225R)
Single nucleotide variant
(missense variant)
Glucocorticoid-remediable aldosteronism
+2 more
GConflicting classifications of pathogenicity
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