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Links from MedGen

Items: 1 to 100 of 270

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SRD5A2
Single nucleotide variant
(synonymous variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
Single nucleotide variant
(synonymous variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
Single nucleotide variant
(synonymous variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
Single nucleotide variant
(intron variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
Single nucleotide variant
(synonymous variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
Single nucleotide variant
(intron variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
Single nucleotide variant
(intron variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
(L89V)
Indel
(missense variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
Single nucleotide variant
(intron variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
Single nucleotide variant
(intron variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
Single nucleotide variant
(intron variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
Single nucleotide variant
(intron variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
Single nucleotide variant
(synonymous variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
Single nucleotide variant
(synonymous variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
(G191R)
Single nucleotide variant
(missense variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GUncertain significance
SRD5A2
Single nucleotide variant
(synonymous variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
Deletion
(frameshift variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GPathogenic
SRD5A2
Single nucleotide variant
(synonymous variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
Single nucleotide variant
(intron variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
Single nucleotide variant
(intron variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
Single nucleotide variant
(intron variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
Single nucleotide variant
(intron variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
Single nucleotide variant
(synonymous variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
Single nucleotide variant
(synonymous variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
(R105fs)
Deletion
(frameshift variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GPathogenic
SRD5A2
Single nucleotide variant
(synonymous variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
Single nucleotide variant
(synonymous variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
Single nucleotide variant
(intron variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
Single nucleotide variant
(synonymous variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
+1 more
GLikely benign
SRD5A2
Single nucleotide variant
(synonymous variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
Single nucleotide variant
(intron variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
(Y165fs)
Insertion
(frameshift variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GPathogenic
SRD5A2
Single nucleotide variant
(synonymous variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
Single nucleotide variant
(intron variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
Single nucleotide variant
(intron variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
(K35fs)
Deletion
(frameshift variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GPathogenic
SRD5A2
(Q7*)
Single nucleotide variant
(nonsense)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GPathogenic
SRD5A2
Single nucleotide variant
(synonymous variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
Single nucleotide variant
(synonymous variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
Deletion
(intron variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
Deletion
(intron variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
(S39fs)
Deletion
(frameshift variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GPathogenic
SRD5A2
Single nucleotide variant
(synonymous variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
(R145fs)
Duplication
(frameshift variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GPathogenic
SRD5A2
Single nucleotide variant
(intron variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
(A49fs)
Deletion
(frameshift variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GPathogenic
SRD5A2
Single nucleotide variant
(synonymous variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
Single nucleotide variant
(synonymous variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
Single nucleotide variant
(intron variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
(S31F)
Single nucleotide variant
(missense variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GBenign
SRD5A2
Single nucleotide variant
(synonymous variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
Single nucleotide variant
(synonymous variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
Single nucleotide variant
(intron variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
Single nucleotide variant
(splice donor variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely pathogenic
SRD5A2
Single nucleotide variant
(splice donor variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GPathogenic
SRD5A2
Single nucleotide variant
(synonymous variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
Single nucleotide variant
(synonymous variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
Single nucleotide variant
(synonymous variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
Single nucleotide variant
(synonymous variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
Single nucleotide variant
(synonymous variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
Single nucleotide variant
(intron variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
(Q182*)
Single nucleotide variant
(nonsense)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GPathogenic
SRD5A2
Single nucleotide variant
(synonymous variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
Single nucleotide variant
(synonymous variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
Single nucleotide variant
(intron variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
Single nucleotide variant
(synonymous variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
Single nucleotide variant
(synonymous variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
Single nucleotide variant
(intron variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
Single nucleotide variant
(synonymous variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
(W201*)
Single nucleotide variant
(nonsense)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GPathogenic
SRD5A2
(H230fs)
Deletion
(frameshift variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GPathogenic
SRD5A2
Single nucleotide variant
(intron variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
Single nucleotide variant
(synonymous variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
Deletion
(nonsense)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GPathogenic
SRD5A2
Single nucleotide variant
(synonymous variant)
SRD5A2-related condition
+1 more
GLikely benign
SRD5A2
Single nucleotide variant
(synonymous variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
Single nucleotide variant
(intron variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
Single nucleotide variant
(synonymous variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
Single nucleotide variant
(synonymous variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
Single nucleotide variant
(synonymous variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
(A28fs)
Deletion
(frameshift variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GPathogenic
SRD5A2
Single nucleotide variant
(intron variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
(W53*)
Single nucleotide variant
(nonsense)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GPathogenic
SRD5A2
(Q56R)
Single nucleotide variant
(missense variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GPathogenic
SRD5A2
(W140fs)
Deletion
(frameshift variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GPathogenic
SRD5A2
(H230P)
Single nucleotide variant
(missense variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GPathogenic
SRD5A2
Single nucleotide variant
(synonymous variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
Single nucleotide variant
(intron variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
Single nucleotide variant
(intron variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GBenign
SRD5A2
Single nucleotide variant
(synonymous variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
Single nucleotide variant
(synonymous variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
Single nucleotide variant
(synonymous variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
Single nucleotide variant
(synonymous variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
(G32S)
Single nucleotide variant
(missense variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GBenign
SRD5A2
Single nucleotide variant
(intron variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
Single nucleotide variant
(intron variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
Single nucleotide variant
(synonymous variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
(R145W)
Single nucleotide variant
(missense variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely pathogenic
SRD5A2
Single nucleotide variant
(synonymous variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
SRD5A2
Single nucleotide variant
(synonymous variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GLikely benign
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