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Links from MedGen

Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NNT
(V211A +1 more)
Single nucleotide variant
(missense variant)
Glucocorticoid deficiency 4
GPathogenic
NNT
Single nucleotide variant
(splice acceptor variant)
Glucocorticoid deficiency 4
GPathogenic
NNT
Deletion
(nonsense)
Glucocorticoid deficiency 4
GPathogenic
NNT
(G477R +1 more)
Single nucleotide variant
(missense variant)
Glucocorticoid deficiency 4
GUncertain significance
NNT
Insertion
(intron variant)
Glucocorticoid deficiency 4
GBenign
NNT
Single nucleotide variant
(5 prime UTR variant)
Glucocorticoid deficiency 4
+1 more
GBenign
NNT
Single nucleotide variant
(5 prime UTR variant +1 more)
Glucocorticoid deficiency 4
+1 more
GBenign
NNT
(I627fs +1 more)
Deletion
(frameshift variant)
Glucocorticoid deficiency 4
GPathogenic
NNT
(S926R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
NNT
(S496L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NNT
(V475A +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NNT
(T344M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
NNT
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
NNT
(P395fs +1 more)
Duplication
(frameshift variant)
Glucocorticoid deficiency 4
GLikely pathogenic
NNT
(L33fs)
Duplication
(5 prime UTR variant +1 more)
Glucocorticoid deficiency 4
GPathogenic
NNT
(R27H)
Single nucleotide variant
(5 prime UTR variant +1 more)
Glucocorticoid deficiency 4
+1 more
GBenign
NNT
(R71*)
Single nucleotide variant
(nonsense +1 more)
Glucocorticoid deficiency 4
GPathogenic
NNT
(R129*)
Single nucleotide variant
(5 prime UTR variant +1 more)
Glucocorticoid deficiency 4
GPathogenic
NNT
(G200S +1 more)
Single nucleotide variant
(missense variant)
Glucocorticoid deficiency 4
GLikely pathogenic
NNT
(F215S +1 more)
Single nucleotide variant
(missense variant)
Glucocorticoid deficiency 4
GPathogenic
NNT
(H290fs +1 more)
Duplication
(frameshift variant)
Glucocorticoid deficiency 4
GPathogenic
NNT
(A1008P +1 more)
Single nucleotide variant
(missense variant)
Glucocorticoid deficiency 4
GPathogenic
NNT
(N1009K +1 more)
Single nucleotide variant
(missense variant)
Glucocorticoid deficiency 4
GPathogenic
NNT
Deletion
(frameshift variant)
Glucocorticoid deficiency 4
GPathogenic
NNT
(L977P +1 more)
Single nucleotide variant
(missense variant)
Glucocorticoid deficiency 4
GPathogenic
NNT
Deletion
(splice acceptor variant)
Glucocorticoid deficiency 4
GPathogenic
NNT
(A533V +1 more)
Single nucleotide variant
(missense variant)
Glucocorticoid deficiency 4
GPathogenic
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