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Links from MedGen

Items: 1 to 100 of 287

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CYP11B1
(R120fs)
Deletion
(frameshift variant)
Deficiency of steroid 11-beta-monooxygenase
GLikely pathogenic
CYP11B1, LOC106799833
Deletion
(splice donor variant)
Deficiency of steroid 11-beta-monooxygenase
GLikely pathogenic
CYP11B1, LOC106799833
Single nucleotide variant
(splice donor variant)
Deficiency of steroid 11-beta-monooxygenase
GLikely pathogenic
CYP11B1, LOC106799833
(E361fs)
Deletion
(frameshift variant)
Deficiency of steroid 11-beta-monooxygenase
GLikely pathogenic
CYP11B1, LOC106799833
(R384fs)
Deletion
(frameshift variant)
Deficiency of steroid 11-beta-monooxygenase
GPathogenic
CYP11B1, LOC106799833
Microsatellite
(inframe insertion +1 more)
Deficiency of steroid 11-beta-monooxygenase
GLikely pathogenic
CYP11B1, LOC106799833
Single nucleotide variant
(splice acceptor variant)
Deficiency of steroid 11-beta-monooxygenase
GLikely pathogenic
CYP11B1, LOC106799833
(F239fs)
Deletion
(frameshift variant)
Deficiency of steroid 11-beta-monooxygenase
GLikely pathogenic
CYP11B1, LOC106799833
Single nucleotide variant
(intron variant)
Deficiency of steroid 11-beta-monooxygenase
GLikely pathogenic
CYP11B1, LOC106799833
Single nucleotide variant
(splice acceptor variant)
Deficiency of steroid 11-beta-monooxygenase
GLikely pathogenic
CYP11B1
(L423S +1 more)
Single nucleotide variant
(missense variant)
Deficiency of steroid 11-beta-monooxygenase
GLikely pathogenic
CYP11B1
(L375P)
Single nucleotide variant
(missense variant)
Deficiency of steroid 11-beta-monooxygenase
GUncertain significance
CYP11B1
(L340R)
Single nucleotide variant
(missense variant)
Deficiency of steroid 11-beta-monooxygenase
GLikely pathogenic
CYP11B1
(E310D)
Single nucleotide variant
(missense variant)
Deficiency of steroid 11-beta-monooxygenase
GUncertain significance
CYP11B1
(G267D)
Single nucleotide variant
(missense variant)
Deficiency of steroid 11-beta-monooxygenase
GLikely pathogenic
CYP11B1, LOC106799833
(G267R)
Single nucleotide variant
(missense variant)
Deficiency of steroid 11-beta-monooxygenase
GLikely pathogenic
CYP11B1
Indel
(inframe_indel)
Deficiency of steroid 11-beta-monooxygenase
GPathogenic
CYP11B1
(R141L)
Single nucleotide variant
(missense variant)
Deficiency of steroid 11-beta-monooxygenase
GLikely pathogenic
CYP11B1
(N133K)
Single nucleotide variant
(missense variant)
Deficiency of steroid 11-beta-monooxygenase
GUncertain significance
CYP11B1
(G128fs)
Microsatellite
(frameshift variant)
Deficiency of steroid 11-beta-monooxygenase
GPathogenic
CYP11B1
(H122fs)
Duplication
(frameshift variant)
Deficiency of steroid 11-beta-monooxygenase
GPathogenic
CYP11B1, LOC106799833
(Y266*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
LOC106799833, CYP11B1
(R208P)
Single nucleotide variant
(missense variant)
Deficiency of steroid 11-beta-monooxygenase
GUncertain significance
CYP11B1, LOC106799833
(P250T)
Single nucleotide variant
(missense variant)
Deficiency of steroid 11-beta-monooxygenase
GUncertain significance
CYP11B1, LOC106799833
(S281N)
Single nucleotide variant
(missense variant)
Deficiency of steroid 11-beta-monooxygenase
GUncertain significance
CYP11B1, LOC106799833
(P414A)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CYP11B1, LOC106799833
(N222fs)
Deletion
(frameshift variant)
Deficiency of steroid 11-beta-monooxygenase
GLikely pathogenic
CYP11B1, LOC106799833
(D317fs)
Duplication
(frameshift variant)
Deficiency of steroid 11-beta-monooxygenase
GLikely pathogenic
CYP11B1, LOC106799833
(A313fs)
Deletion
(frameshift variant)
Deficiency of steroid 11-beta-monooxygenase
GLikely pathogenic
CYP11B1, LOC106799833
(W137*)
Single nucleotide variant
(nonsense)
Deficiency of steroid 11-beta-monooxygenase
GLikely pathogenic
CYP11B1, LOC106799833
(K232fs)
Indel
(frameshift variant)
Deficiency of steroid 11-beta-monooxygenase
GLikely pathogenic
CYP11B1, LOC106799833
(K251fs)
Insertion
(frameshift variant)
Deficiency of steroid 11-beta-monooxygenase
GLikely pathogenic
CYP11B1, LOC106799833
(Q265fs)
Deletion
(frameshift variant)
Deficiency of steroid 11-beta-monooxygenase
GLikely pathogenic
CYP11B1, LOC106799833
(K232*)
Single nucleotide variant
(nonsense)
Deficiency of steroid 11-beta-monooxygenase
GLikely pathogenic
CYP11B1, LOC106799833
(Q272*)
Single nucleotide variant
(nonsense)
Deficiency of steroid 11-beta-monooxygenase
GLikely pathogenic
CYP11B1, LOC106799833
(I271fs)
Insertion
(frameshift variant)
Deficiency of steroid 11-beta-monooxygenase
GLikely pathogenic
CYP11B1, LOC106799833
(M238fs)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
CYP11B1, LOC106799833
(R404del)
Deletion
(inframe_deletion +1 more)
Deficiency of steroid 11-beta-monooxygenase
GLikely pathogenic
LOC106799833, CYP11B1
(L462fs)
Deletion
(frameshift variant +1 more)
Deficiency of steroid 11-beta-monooxygenase
GUncertain significance
CYP11B1, LOC106799833
(V405fs)
Deletion
(frameshift variant +1 more)
Deficiency of steroid 11-beta-monooxygenase
GPathogenic
CYP11B1, LOC106799833
(K305*)
Single nucleotide variant
(nonsense)
Deficiency of steroid 11-beta-monooxygenase
GPathogenic
CYP11B1, LOC106799833
(R454fs)
Duplication
(frameshift variant +1 more)
Deficiency of steroid 11-beta-monooxygenase
+2 more
GPathogenic/Likely pathogenic
CYP11B1, LOC106799833
Single nucleotide variant
(synonymous variant)
Deficiency of steroid 11-beta-monooxygenase
+2 more
GLikely benign
CYP11B1, LOC106799833
Single nucleotide variant
(intron variant)
Deficiency of steroid 11-beta-monooxygenase
+2 more
GBenign/Likely benign
LOC106799833, CYP11B1
Single nucleotide variant
(intron variant)
not provided
+2 more
GLikely benign
CYP11B1, LOC106799833
Single nucleotide variant
(splice acceptor variant)
Deficiency of steroid 11-beta-monooxygenase
+1 more
GPathogenic/Likely pathogenic
CYP11B1, LOC106799833
(Q285fs)
Insertion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
CYP11B1, LOC106799833
(R448C)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic
CYP11B1, LOC106799833
(A303fs)
Deletion
(frameshift variant)
Deficiency of steroid 11-beta-monooxygenase
+1 more
GPathogenic/Likely pathogenic
CYP11B1, LOC106799833
(Q265*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
CYP11B1, LOC106799833
(N394fs)
Duplication
(frameshift variant)
Deficiency of steroid 11-beta-monooxygenase
+1 more
GPathogenic/Likely pathogenic
CYP11B1, LOC106799833
(S150*)
Single nucleotide variant
(nonsense)
Deficiency of steroid 11-beta-monooxygenase
+1 more
GPathogenic/Likely pathogenic
CYP11B1, LOC106799833
(A153T)
Single nucleotide variant
(missense variant)
Deficiency of steroid 11-beta-monooxygenase
+2 more
GUncertain significance
CYP11B1, LOC106799833
Single nucleotide variant
(intron variant)
Deficiency of steroid 11-beta-monooxygenase
GUncertain significance
Deficiency of steroid 11-beta-monooxygenase
GPathogenic
CYP11B1, LOC106799833
(R208Q)
Single nucleotide variant
(missense variant)
Deficiency of steroid 11-beta-monooxygenase
+1 more
GUncertain significance
CYP11B1, LOC106799833
Deletion
(splice donor variant)
Deficiency of steroid 11-beta-monooxygenase
GLikely pathogenic
CYP11B1, LOC106799833
Single nucleotide variant
(splice acceptor variant +1 more)
Deficiency of steroid 11-beta-monooxygenase
GPathogenic/Likely pathogenic
CYP11B1, LOC106799833
(S300W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CYP11B1, LOC106799833
Single nucleotide variant
(intron variant)
Deficiency of steroid 11-beta-monooxygenase
+1 more
GBenign
CYP11B1, LOC106799833
(A297V)
Single nucleotide variant
(missense variant)
Deficiency of steroid 11-beta-monooxygenase
+1 more
GLikely pathogenic
CYP11B1, LOC106799833
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
CYP11B1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
CYP11B1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
CYP11B1, LOC106799833
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of steroid 11-beta-monooxygenase
+2 more
GLikely benign
CYP11B1
Single nucleotide variant
(synonymous variant)
Deficiency of steroid 11-beta-monooxygenase
+2 more
GLikely benign
CYP11B1, LOC106799833
Single nucleotide variant
(synonymous variant)
Glucocorticoid-remediable aldosteronism
+2 more
GLikely benign
CYP11B1, LOC106799833
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
CYP11B1, LOC106799833
Single nucleotide variant
(synonymous variant +1 more)
Glucocorticoid-remediable aldosteronism
+2 more
GLikely benign
CYP11B1, LOC106799833
Single nucleotide variant
(intron variant)
not provided
+2 more
GLikely benign
CYP11B1, LOC106799833
(H214fs)
Microsatellite
(frameshift variant)
Deficiency of steroid 11-beta-monooxygenase
+1 more
GPathogenic/Likely pathogenic
CYP11B1, LOC106799833
(R141*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
CYP11B1, LOC106799833
(S243fs)
Deletion
(frameshift variant)
Deficiency of steroid 11-beta-monooxygenase
+3 more
GPathogenic/Likely pathogenic
CYP11B1, LOC110673972
(C10Y)
Single nucleotide variant
(missense variant)
Glucocorticoid-remediable aldosteronism
+2 more
GLikely benign
CYP11B1, LOC106799833
(R448P)
Single nucleotide variant
(missense variant +1 more)
Deficiency of steroid 11-beta-monooxygenase
GPathogenic
CYP11B1, LOC106799833
(D414fs +1 more)
Deletion
(frameshift variant)
Deficiency of steroid 11-beta-monooxygenase
GPathogenic
LOC106799833, CYP11B1
(V316M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
CYP11B1, LOC106799833
(P442fs)
Deletion
(frameshift variant +1 more)
Deficiency of steroid 11-beta-monooxygenase
+1 more
GPathogenic
CYP11B1, LOC106799833
(L142*)
Single nucleotide variant
(nonsense)
Deficiency of steroid 11-beta-monooxygenase
GLikely pathogenic
CYP11B1, LOC106799833
(Y275*)
Single nucleotide variant
(nonsense)
Deficiency of steroid 11-beta-monooxygenase
GLikely pathogenic
CYP11B1, LOC106799833
(Q284*)
Single nucleotide variant
(nonsense)
Deficiency of steroid 11-beta-monooxygenase
GLikely pathogenic
CYP11B1, LOC106799833
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
CYP11B1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
LOC106799833, CYP11B1
(G379V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
CYP11B1, LOC106799833
(Q338*)
Single nucleotide variant
(nonsense)
Deficiency of steroid 11-beta-monooxygenase
+1 more
GPathogenic
LOC106799833, CYP11B1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CYP11B1, LOC106799833
(R181W)
Single nucleotide variant
(missense variant)
Glucocorticoid-remediable aldosteronism
+1 more
GUncertain significance
CYP11B1, LOC106799833
(R181P)
Single nucleotide variant
(missense variant)
Glucocorticoid-remediable aldosteronism
+2 more
GConflicting classifications of pathogenicity
CYP11B1, LOC106799833
(I304M)
Single nucleotide variant
(missense variant)
Glucocorticoid-remediable aldosteronism
+1 more
GUncertain significance
CYP11B1, LOC106799833
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CYP11B1
Single nucleotide variant
(3 prime UTR variant)
Glucocorticoid-remediable aldosteronism
+1 more
GUncertain significance
CYP11B1
Single nucleotide variant
(3 prime UTR variant)
Glucocorticoid-remediable aldosteronism
+1 more
GUncertain significance
CYP11B1
Single nucleotide variant
(3 prime UTR variant)
Glucocorticoid-remediable aldosteronism
+1 more
GUncertain significance
CYP11B1
(H69R)
Single nucleotide variant
(missense variant)
Deficiency of steroid 11-beta-monooxygenase
+1 more
GUncertain significance
CYP11B1
(Q73R)
Single nucleotide variant
(missense variant)
Glucocorticoid-remediable aldosteronism
+1 more
GUncertain significance
CYP11B1, LOC106799833
Single nucleotide variant
(intron variant)
Deficiency of steroid 11-beta-monooxygenase
+2 more
GConflicting classifications of pathogenicity
CYP11B1, LOC106799833
Single nucleotide variant
(synonymous variant)
Glucocorticoid-remediable aldosteronism
+1 more
GUncertain significance
CYP11B1, LOC106799833
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
CYP11B1
Single nucleotide variant
(3 prime UTR variant)
Glucocorticoid-remediable aldosteronism
+1 more
GUncertain significance
CYP11B1
Single nucleotide variant
(3 prime UTR variant)
Glucocorticoid-remediable aldosteronism
+1 more
GUncertain significance
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