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Links from MedGen

Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HSD3B7
Single nucleotide variant
(splice donor variant)
Congenital bile acid synthesis defect 1
GLikely pathogenic
HSD3B7
(Q69*)
Single nucleotide variant
(nonsense)
Congenital bile acid synthesis defect 1
GLikely pathogenic
HSD3B7
(R190H)
Single nucleotide variant
(missense variant +1 more)
Congenital bile acid synthesis defect 1
GUncertain significance
HSD3B7
(T323M)
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital bile acid synthesis defect 1
GUncertain significance
HSD3B7
(P48R)
Single nucleotide variant
(missense variant)
Congenital bile acid synthesis defect 1
GUncertain significance
HSD3B7
(R228W)
Single nucleotide variant
(intron variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
HSD3B7
(Y344C)
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital bile acid synthesis defect 1
GUncertain significance
HSD3B7
(Y230C)
Single nucleotide variant
(missense variant +1 more)
Congenital bile acid synthesis defect 1
GUncertain significance
HSD3B7
(T186M)
Single nucleotide variant
(missense variant +1 more)
Congenital bile acid synthesis defect 1
GUncertain significance
HSD3B7
(E167*)
Single nucleotide variant
(nonsense)
Congenital bile acid synthesis defect 1
+1 more
GPathogenic
HSD3B7
Single nucleotide variant
(synonymous variant +1 more)
HSD3B7-related condition
+2 more
GConflicting classifications of pathogenicity
HSD3B7
(G196S)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
HSD3B7
(T250A)
Single nucleotide variant
(synonymous variant +1 more)
Congenital bile acid synthesis defect 1
+2 more
GBenign
HSD3B7
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital bile acid synthesis defect 1
+2 more
GBenign
HSD3B7
Deletion
(intron variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
HSD3B7
(G17fs)
Deletion
(frameshift variant)
HSD3B7-related condition
+2 more
GPathogenic
HSD3B7
(E147K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
HSD3B7
Single nucleotide variant
(splice donor variant)
Congenital bile acid synthesis defect 1
GPathogenic
HSD3B7
(K99fs)
Duplication
(frameshift variant)
not provided
GPathogenic
HSD3B7
(L347fs)
Deletion
(3 prime UTR variant +1 more)
Congenital bile acid synthesis defect 1
GPathogenic
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