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Links from MedGen

Items: 1 to 100 of 153

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SRD5A3
Single nucleotide variant
(synonymous variant)
SRD5A3-congenital disorder of glycosylation
GLikely benign
SRD5A3
Single nucleotide variant
(intron variant)
SRD5A3-congenital disorder of glycosylation
GLikely benign
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(intron variant)
SRD5A3-congenital disorder of glycosylation
GLikely benign
SRD5A3
Single nucleotide variant
(intron variant)
SRD5A3-congenital disorder of glycosylation
GLikely benign
SRD5A3
Single nucleotide variant
(synonymous variant)
SRD5A3-congenital disorder of glycosylation
GLikely benign
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(synonymous variant)
SRD5A3-congenital disorder of glycosylation
GLikely benign
SRD5A3
(Y169C)
Single nucleotide variant
(missense variant)
SRD5A3-congenital disorder of glycosylation
+1 more
GUncertain significance
SRD5A3
(A17fs)
Deletion
(frameshift variant)
SRD5A3-congenital disorder of glycosylation
GPathogenic
SRD5A3
(P103S)
Single nucleotide variant
(missense variant)
SRD5A3-congenital disorder of glycosylation
+1 more
GUncertain significance
SRD5A3, SRD5A3-AS1
(R200W)
Single nucleotide variant
(missense variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(synonymous variant +1 more)
SRD5A3-congenital disorder of glycosylation
GLikely benign
SRD5A3
(W19L)
Single nucleotide variant
(missense variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3
(F130L)
Single nucleotide variant
(missense variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3
Single nucleotide variant
(synonymous variant)
SRD5A3-congenital disorder of glycosylation
GLikely benign
SRD5A3
Single nucleotide variant
(synonymous variant)
SRD5A3-congenital disorder of glycosylation
GLikely benign
SRD5A3
Single nucleotide variant
(synonymous variant)
SRD5A3-congenital disorder of glycosylation
GLikely benign
SRD5A3
(S61W)
Single nucleotide variant
(missense variant)
SRD5A3-congenital disorder of glycosylation
+1 more
GUncertain significance
SRD5A3
Single nucleotide variant
(intron variant)
SRD5A3-congenital disorder of glycosylation
GLikely benign
SRD5A3
Single nucleotide variant
(intron variant)
SRD5A3-congenital disorder of glycosylation
GLikely benign
SRD5A3
(L28R)
Single nucleotide variant
(missense variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3
(A68D)
Single nucleotide variant
(missense variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3
Single nucleotide variant
(synonymous variant)
SRD5A3-congenital disorder of glycosylation
GLikely benign
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(intron variant)
SRD5A3-congenital disorder of glycosylation
GLikely benign
SRD5A3, SRD5A3-AS1
(M209I)
Single nucleotide variant
(missense variant)
SRD5A3-congenital disorder of glycosylation
GLikely benign
SRD5A3, SRD5A3-AS1
(V206L +1 more)
Single nucleotide variant
(missense variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3
Single nucleotide variant
(intron variant)
SRD5A3-congenital disorder of glycosylation
GLikely benign
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(synonymous variant)
SRD5A3-congenital disorder of glycosylation
GLikely benign
SRD5A3
Single nucleotide variant
(synonymous variant)
SRD5A3-congenital disorder of glycosylation
GLikely benign
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(synonymous variant)
SRD5A3-congenital disorder of glycosylation
GLikely benign
SRD5A3
(L115R)
Single nucleotide variant
(missense variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(splice donor variant +1 more)
SRD5A3-congenital disorder of glycosylation
GConflicting classifications of pathogenicity
SRD5A3
Single nucleotide variant
(intron variant)
SRD5A3-congenital disorder of glycosylation
GLikely benign
SRD5A3
Single nucleotide variant
(synonymous variant)
SRD5A3-congenital disorder of glycosylation
GLikely benign
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(synonymous variant)
SRD5A3-congenital disorder of glycosylation
GLikely benign
SRD5A3, SRD5A3-AS1
(P307L)
Single nucleotide variant
(missense variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3, SRD5A3-AS1
(I211M)
Single nucleotide variant
(missense variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3
(V173I)
Single nucleotide variant
(missense variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3
Deletion
SRD5A3-congenital disorder of glycosylation
GPathogenic
SRD5A3
(G88S)
Single nucleotide variant
(missense variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3
Single nucleotide variant
(synonymous variant)
SRD5A3-congenital disorder of glycosylation
GLikely benign
SRD5A3
(L34V)
Single nucleotide variant
(missense variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3
(E8K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SRD5A3
(C57R)
Single nucleotide variant
(missense variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3, SRD5A3-AS1
(L205F)
Single nucleotide variant
(missense variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3
(C93*)
Single nucleotide variant
(nonsense)
SRD5A3-congenital disorder of glycosylation
GPathogenic
SRD5A3
Duplication
SRD5A3-congenital disorder of glycosylation
GLikely pathogenic
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(intron variant)
SRD5A3-congenital disorder of glycosylation
GLikely benign
SRD5A3
Single nucleotide variant
(intron variant)
SRD5A3-congenital disorder of glycosylation
GLikely benign
SRD5A3
(F26C)
Single nucleotide variant
(missense variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3
(H139R)
Single nucleotide variant
(missense variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3
(G88V)
Single nucleotide variant
(missense variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3, SRD5A3-AS1
(V304A)
Single nucleotide variant
(missense variant)
SRD5A3-congenital disorder of glycosylation
+1 more
GUncertain significance
SRD5A3
(F145L)
Single nucleotide variant
(missense variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(3 prime UTR variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(3 prime UTR variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(3 prime UTR variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(3 prime UTR variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(3 prime UTR variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(3 prime UTR variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3
(V150I)
Single nucleotide variant
(missense variant)
SRD5A3-congenital disorder of glycosylation
+1 more
GUncertain significance
SRD5A3
Single nucleotide variant
(synonymous variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3
(G42S)
Single nucleotide variant
(missense variant)
SRD5A3-congenital disorder of glycosylation
+1 more
GUncertain significance
SRD5A3
(M1T)
Single nucleotide variant
(missense variant +1 more)
SRD5A3-congenital disorder of glycosylation
+1 more
GUncertain significance
SRD5A3
Single nucleotide variant
(5 prime UTR variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(3 prime UTR variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(3 prime UTR variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(3 prime UTR variant)
SRD5A3-congenital disorder of glycosylation
GBenign
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(3 prime UTR variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(3 prime UTR variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(3 prime UTR variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(3 prime UTR variant)
SRD5A3-congenital disorder of glycosylation
GLikely benign
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(3 prime UTR variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(3 prime UTR variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(3 prime UTR variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(3 prime UTR variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(3 prime UTR variant)
SRD5A3-congenital disorder of glycosylation
+1 more
GLikely benign
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(3 prime UTR variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(3 prime UTR variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(3 prime UTR variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(3 prime UTR variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3, SRD5A3-AS1
(A312P)
Single nucleotide variant
(missense variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3, SRD5A3-AS1
(V268I)
Single nucleotide variant
(missense variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3, SRD5A3-AS1
(G225S)
Single nucleotide variant
(missense variant)
SRD5A3-congenital disorder of glycosylation
+1 more
GConflicting classifications of pathogenicity
SRD5A3, SRD5A3-AS1
(N274S)
Single nucleotide variant
(missense variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3
(Q162*)
Single nucleotide variant
(nonsense)
SRD5A3-congenital disorder of glycosylation
+1 more
GLikely pathogenic
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(synonymous variant)
SRD5A3-related condition
+1 more
GLikely benign
SRD5A3
Single nucleotide variant
(synonymous variant)
SRD5A3-congenital disorder of glycosylation
GConflicting classifications of pathogenicity
SRD5A3-AS1, SRD5A3
(A232E)
Single nucleotide variant
(missense variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3
(L112F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SRD5A3
(G166E)
Single nucleotide variant
(missense variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3, SRD5A3-AS1
(F318fs)
Deletion
(frameshift variant)
Inborn genetic diseases
+6 more
GUncertain significance
SRD5A3
(Q47R)
Single nucleotide variant
(missense variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3
(A17V)
Single nucleotide variant
(missense variant)
SRD5A3-congenital disorder of glycosylation
+1 more
GUncertain significance
SRD5A3
(E146K)
Single nucleotide variant
(missense variant)
SRD5A3-congenital disorder of glycosylation
+1 more
GConflicting classifications of pathogenicity
SRD5A3
Deletion
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SRD5A3
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
SRD5A3
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
SRD5A3
Single nucleotide variant
(intron variant)
not specified
+1 more
GLikely benign
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(3 prime UTR variant)
SRD5A3-congenital disorder of glycosylation
GLikely benign
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