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Items: 60

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HSD3B7
Indel
(5 prime UTR variant +1 more)
not provided
GUncertain significance
HSD3B7
(D3N)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
HSD3B7
(V14F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HSD3B7
(G17fs)
Deletion
(frameshift variant)
HSD3B7-related condition
+2 more
GPathogenic
HSD3B7
(H24R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
HSD3B7
(R32W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSD3B7
(R35G)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
HSD3B7
(D43E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSD3B7
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
HSD3B7
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
HSD3B7
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
HSD3B7
(D66fs)
Deletion
(frameshift variant)
not provided
GPathogenic
HSD3B7
(A76P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSD3B7
(A76T)
Single nucleotide variant
(missense variant)
HSD3B7-related condition
+1 more
GUncertain significance
HSD3B7
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
HSD3B7
(T86M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSD3B7
(G88A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSD3B7
(V90fs)
Deletion
(frameshift variant)
not provided
GPathogenic
HSD3B7
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
HSD3B7
(K99fs)
Duplication
(frameshift variant)
not provided
GPathogenic
HSD3B7
(I101T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSD3B7
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
HSD3B7
(R110Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSD3B7
(N111H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSD3B7
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
HSD3B7
(R122Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSD3B7
(M130V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSD3B7
Insertion
(intron variant)
not provided
GConflicting classifications of pathogenicity
HSD3B7
(E147K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
HSD3B7
Deletion
(nonsense)
not provided
GPathogenic
HSD3B7
(E152K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
HSD3B7
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
HSD3B7
(N174S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSD3B7
(R179C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
HSD3B7
Single nucleotide variant
(synonymous variant +1 more)
HSD3B7-related condition
+2 more
GConflicting classifications of pathogenicity
HSD3B7
(L189F)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
HSD3B7
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
HSD3B7
(G196S)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
HSD3B7
(R203K)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
HSD3B7
(G213R)
Single nucleotide variant
(missense variant +1 more)
HSD3B7-related condition
+1 more
GUncertain significance
HSD3B7
(V224A)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
HSD3B7
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
HSD3B7
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
HSD3B7
(T184M)
Single nucleotide variant
(missense variant +1 more)
HSD3B7-related condition
+1 more
GConflicting classifications of pathogenicity
HSD3B7
(R243Q +1 more)
Single nucleotide variant
(missense variant)
not provided
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)
not provided
GUncertain significance
HSD3B7
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
+1 more
GBenign
HSD3B7
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
HSD3B7
(G280R)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
HSD3B7
(R287C)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
HSD3B7
(F297fs)
Deletion
(3 prime UTR variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
HSD3B7
(V333I)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
HSD3B7
(L347P)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
+1 more
GBenign
HSD3B7
Single nucleotide variant
(3 prime UTR variant +1 more)
HSD3B7-related condition
+1 more
GConflicting classifications of pathogenicity
HSD3B7
(R354Q)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
HSD3B7
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital bile acid synthesis defect 1
+2 more
GBenign
HSD3B7
(A364T)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
HSD3B7
(G366A)
Single nucleotide variant
(3 prime UTR variant +1 more)
HSD3B7-related condition
+1 more
GUncertain significance
HSD3B7
Single nucleotide variant
(3 prime UTR variant)
HSD3B7-related condition
+1 more
GConflicting classifications of pathogenicity
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