U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AKR1C2
(R250fs +1 more)
Microsatellite
(frameshift variant)
46,XY disorder of sex development due to testicular 17,20-desmolase deficiency
GUncertain significance
AKR1C2
Single nucleotide variant
(synonymous variant +1 more)
46,XY disorder of sex development due to testicular 17,20-desmolase deficiency
+2 more
GBenign
AKR1C4
Single nucleotide variant
(intron variant)
46,XY disorder of sex development due to testicular 17,20-desmolase deficiency
Grisk factor
AKR1C2, LOC101928051
(H222Q +1 more)
Single nucleotide variant
(missense variant)
46,XY disorder of sex development due to testicular 17,20-desmolase deficiency
GPathogenic
AKR1C2
(N300T +1 more)
Single nucleotide variant
(missense variant)
46,XY disorder of sex development due to testicular 17,20-desmolase deficiency
GPathogenic
AKR1C2
(H90Q)
Single nucleotide variant
(missense variant)
46,XY disorder of sex development due to testicular 17,20-desmolase deficiency
GPathogenic
AKR1C2
(I79V)
Single nucleotide variant
(missense variant)
46,XY disorder of sex development due to testicular 17,20-desmolase deficiency
GPathogenic
Format
Items per page
Sort by
Choose Destination