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Items: 38

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AKR1D1
(S4G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AKR1D1
Single nucleotide variant
(synonymous variant)
AKR1D1-related condition
+1 more
GConflicting classifications of pathogenicity
AKR1D1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
AKR1D1
(S17G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
AKR1D1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AKR1D1
(S31L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AKR1D1
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
AKR1D1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
AKR1D1
(R50Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AKR1D1
(R78W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AKR1D1
(R78Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
AKR1D1
(D81V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AKR1D1
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AKR1D1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
AKR1D1
(Q110P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
AKR1D1
(L111P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AKR1D1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
AKR1D1
(D115E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AKR1D1
(I119T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AKR1D1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
AKR1D1
(P127L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
AKR1D1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AKR1D1
(S165Y)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
AKR1D1
(N181S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
AKR1D1
(N181K)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
AKR1D1
(K186N)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
AKR1D1
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GLikely pathogenic
AKR1D1
(E195* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GConflicting classifications of pathogenicity
AKR1D1
(P198L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AKR1D1
(Y199C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AKR1D1
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
AKR1D1
(N252D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AKR1D1
(R279K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AKR1D1
(E241fs +1 more)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
AKR1D1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
AKR1D1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
AKR1D1
Single nucleotide variant
(stop lost +1 more)
not provided
GLikely pathogenic
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
+2 more
GBenign
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