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Items: 1 to 100 of 188

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CYP11A1
(A236D +1 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
(W23*)
Single nucleotide variant
(nonsense +1 more)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GLikely pathogenic
CYP21A2, LOC106780800
(S136C +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GLikely pathogenic
CYP21A2, LOC106780800
(P31S)
Single nucleotide variant
(missense variant +1 more)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GLikely pathogenic
CYP21A2, LOC106780800
(L13M)
Single nucleotide variant
(missense variant +1 more)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
(P35L)
Single nucleotide variant
(missense variant +1 more)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
(V238E +5 more)
Single nucleotide variant
(missense variant)
Congenital adrenal hyperplasia
GPathogenic
CYP21A2, LOC106780800
(V238E +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYP21A2, LOC106780800
(M240K +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYP21A2, LOC106780800
(L138P +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
(W175* +2 more)
Single nucleotide variant
(nonsense)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GLikely pathogenic
CYP21A2, LOC106780800
(S114F +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GLikely pathogenic
CYP21A2, LOC106780800
(Q10fs +2 more)
Deletion
(frameshift variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GPathogenic
CYP21A2, LOC106780800
Single nucleotide variant
(splice donor variant +1 more)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GLikely pathogenic
CYP21A2, LOC106780800
(L173fs +2 more)
Deletion
(frameshift variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GPathogenic
CYP21A2, LOC106780800
(R232C +2 more)
Single nucleotide variant
(missense variant)
Congenital adrenal hyperplasia
+1 more
GConflicting classifications of pathogenicity
CYP21A2, LOC106780800
(F270S +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
(F172V +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CYP21A2, LOC106780800
(V170M +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
(R125C +1 more)
Single nucleotide variant
(missense variant +1 more)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
(R222Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CYP21A2, LOC106780800
(A228P +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
(R220C +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
+1 more
GPathogenic/Likely pathogenic
CYP21A2, LOC106780800
Single nucleotide variant
(synonymous variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
(R325P +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
(E249K +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
Single nucleotide variant
(splice donor variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GLikely pathogenic
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
(M136fs +1 more)
Deletion
(frameshift variant +1 more)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GLikely pathogenic
CYP21A2, LOC106780800
Single nucleotide variant
(splice acceptor variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GLikely pathogenic
CYP21A2, LOC106780800
(R205H +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GPathogenic
CYP21A2, LOC106780800
(V224I +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYP11A1
(R232* +1 more)
Single nucleotide variant
(nonsense)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
+1 more
GPathogenic
CYP21A2
Deletion
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GLikely pathogenic
CYP19A1, MIR4713HG
+1 more
(D381V)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
(A213T +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GLikely pathogenic
CYP21A2, LOC106780800
(Y48C)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CYP21A2, LOC106780800
(R349P +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
+1 more
GConflicting classifications of pathogenicity
CYP21A2, LOC106780800
(G290V +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GLikely pathogenic
CYP21A2, LOC106780800
(E144fs +2 more)
Duplication
(frameshift variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GPathogenic
LOC106780800, CYP21A2
Single nucleotide variant
(splice donor variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GPathogenic
CYP21A2, LOC106780800
(A14S)
Single nucleotide variant
(missense variant +1 more)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
Single nucleotide variant
(splice donor variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GPathogenic
CYP21A2, LOC106780800
(R222P +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LOC106780800, CYP21A2
+1 more
Single nucleotide variant
Congenital adrenal hyperplasia
GLikely pathogenic
LOC126860075, POR
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
+1 more
GBenign/Likely benign
CYP21A2, LOC106780800
(P133L +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
CYP21A2, LOC106780800
(G290S +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
CYP21A2, LOC106780800
(A236V +2 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
CYP21A2, LOC106780800
(L64F +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CYP21A2, LOC106780800
(M254V +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
+2 more
GPathogenic/Likely pathogenic
CYP21A2, LOC106780800
(M126T +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GLikely pathogenic
CYP21A2, LOC106780800
(M126R +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GLikely pathogenic
CYP21A2, LOC106780800
(G117S +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GLikely pathogenic
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
(L107V +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
(L157V +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GLikely pathogenic
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
(D150E +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
(Y145* +2 more)
Single nucleotide variant
(nonsense)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GPathogenic
CYP21A2, LOC106780800
(C140Y +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GPathogenic
CYP21A2, LOC106780800
(L137R +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
(L137V +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
(E132G +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
LOC106780800, CYP21A2
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
Single nucleotide variant
(synonymous variant +1 more)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
Single nucleotide variant
(synonymous variant +1 more)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
Single nucleotide variant
(synonymous variant +1 more)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2
Single nucleotide variant
(3 prime UTR variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
Single nucleotide variant
(3 prime UTR variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
(R349fs +2 more)
Duplication
(frameshift variant)
not provided
GLikely pathogenic
CYP21A2, LOC106780800
(P348T +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
(S334G +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
(D322E +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
Single nucleotide variant
(synonymous variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
(P298R +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
(G296S +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GPathogenic
CYP21A2, LOC106780800
(C289* +2 more)
Single nucleotide variant
(nonsense)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GPathogenic
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
+1 more
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CYP21A2, LOC106780800
(R266G +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
(Q255H +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
(D243Y +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYP21A2, LOC106780800
(R235P +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
(A151S +2 more)
Single nucleotide variant
(missense variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GUncertain significance
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
CYP21A2, LOC106780800
Single nucleotide variant
(intron variant)
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
GBenign
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