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Links from MedGen

Items: 1 to 100 of 114

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AKR1D1
Duplication
(inframe_insertion +1 more)
Congenital bile acid synthesis defect 2
GUncertain significance
AKR1D1
(S289L +2 more)
Single nucleotide variant
(missense variant)
Congenital bile acid synthesis defect 2
GUncertain significance
AKR1D1
Deletion
(inframe_deletion)
Congenital bile acid synthesis defect 2
GUncertain significance
AKR1D1
(D53N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
AKR1D1
(S249fs +1 more)
Deletion
(frameshift variant +1 more)
Congenital bile acid synthesis defect 2
GLikely pathogenic
AKR1D1
(R50*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
AKR1D1
(R225Q +1 more)
Single nucleotide variant
(missense variant)
Congenital bile acid synthesis defect 2
GLikely pathogenic
AKR1D1
(S184R +1 more)
Single nucleotide variant
(missense variant)
Congenital bile acid synthesis defect 2
GUncertain significance
AKR1D1
(I216T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
AKR1D1
(N170S)
Single nucleotide variant
(missense variant +1 more)
Congenital bile acid synthesis defect 2
GConflicting classifications of pathogenicity
AKR1D1
(R225* +1 more)
Single nucleotide variant
(nonsense)
Congenital bile acid synthesis defect 2
GPathogenic/Likely pathogenic
AKR1D1
(W89*)
Single nucleotide variant
(nonsense)
Congenital bile acid synthesis defect 2
GPathogenic
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GUncertain significance
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GUncertain significance
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GUncertain significance
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GUncertain significance
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GUncertain significance
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
+1 more
GConflicting classifications of pathogenicity
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GUncertain significance
AKR1D1
(E152K)
Single nucleotide variant
(missense variant)
Congenital bile acid synthesis defect 2
GUncertain significance
AKR1D1
(I131K)
Single nucleotide variant
(missense variant)
Congenital bile acid synthesis defect 2
+1 more
GUncertain significance
AKR1D1
Single nucleotide variant
(synonymous variant)
Congenital bile acid synthesis defect 2
GUncertain significance
AKR1D1
Single nucleotide variant
(synonymous variant)
Congenital bile acid synthesis defect 2
GUncertain significance
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GUncertain significance
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GUncertain significance
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GLikely benign
AKR1D1
Single nucleotide variant
(5 prime UTR variant)
Congenital bile acid synthesis defect 2
GUncertain significance
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GUncertain significance
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GUncertain significance
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GUncertain significance
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GUncertain significance
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GUncertain significance
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GLikely benign
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GUncertain significance
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GUncertain significance
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GUncertain significance
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GUncertain significance
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GUncertain significance
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GUncertain significance
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GUncertain significance
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GUncertain significance
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GUncertain significance
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GLikely benign
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GUncertain significance
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GUncertain significance
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GUncertain significance
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GUncertain significance
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GUncertain significance
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GUncertain significance
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GUncertain significance
AKR1D1
(R220H +1 more)
Single nucleotide variant
(missense variant)
Congenital bile acid synthesis defect 2
GUncertain significance
AKR1D1
(I217T +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
AKR1D1
(Y178H +1 more)
Single nucleotide variant
(missense variant)
Congenital bile acid synthesis defect 2
GUncertain significance
AKR1D1
Single nucleotide variant
(synonymous variant)
Congenital bile acid synthesis defect 2
GUncertain significance
AKR1D1
(W273R +2 more)
Single nucleotide variant
(missense variant)
Congenital bile acid synthesis defect 2
GLikely pathogenic
AKR1D1
Single nucleotide variant
(splice donor variant)
Congenital bile acid synthesis defect 2
GUncertain significance
AKR1D1
(E195* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GConflicting classifications of pathogenicity
AKR1D1
(L111P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GBenign
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GBenign
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GBenign
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GUncertain significance
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GBenign
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GUncertain significance
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GUncertain significance
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GUncertain significance
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GBenign
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GLikely benign
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GBenign
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GLikely benign
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GUncertain significance
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GUncertain significance
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GUncertain significance
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GUncertain significance
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GBenign
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GUncertain significance
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GBenign
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GLikely benign
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GLikely benign
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GBenign
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GBenign
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GUncertain significance
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GUncertain significance
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GBenign
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GLikely benign
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GBenign
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GUncertain significance
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GUncertain significance
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GUncertain significance
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GBenign
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GBenign
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GLikely benign
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GUncertain significance
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GBenign
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GUncertain significance
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GUncertain significance
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GUncertain significance
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GLikely benign
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
Congenital bile acid synthesis defect 2
GBenign
AKR1D1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
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