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Links from MedGen

Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NR5A1
(I193N)
Single nucleotide variant
(missense variant)
Premature ovarian failure 7
GLikely pathogenic
NR5A1
(V355M)
Single nucleotide variant
(missense variant)
Premature ovarian failure 7
+2 more
GConflicting classifications of pathogenicity
NR5A1
(P129L +1 more)
Single nucleotide variant
(missense variant)
Spermatogenic failure 8
+1 more
GPathogenic
NR5A1
Microsatellite
(inframe_deletion)
Premature ovarian failure 7
GPathogenic
NR5A1
(P131fs)
Deletion
(frameshift variant)
46,XY sex reversal 3
+1 more
GPathogenic
NR5A1
(M1I)
Single nucleotide variant
(missense variant +1 more)
46,XY sex reversal 3
+1 more
GPathogenic
NR5A1
(D293N)
Single nucleotide variant
(missense variant)
46,XY sex reversal 3
+1 more
GPathogenic
NR5A1
(N222fs)
Deletion
(frameshift variant)
46,XY sex reversal 3
+1 more
GPathogenic
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