U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 265

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NR5A1
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign
NR5A1
Deletion
46,XY sex reversal 3
+2 more
GLikely pathogenic
NR5A1
Deletion
(3 prime UTR variant)
not provided
GBenign
NR5A1
Single nucleotide variant
(3 prime UTR variant)
46,XY disorder of sex development
+2 more
GBenign
NR5A1
(Q460P)
Single nucleotide variant
(missense variant)
Oligosynaptic infertility
+2 more
GUncertain significance
NR5A1
(Q460R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NR5A1
Single nucleotide variant
(synonymous variant)
46,XY disorder of sex development
+1 more
GLikely benign
NR5A1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
NR5A1
Single nucleotide variant
(synonymous variant)
NR5A1-related disorder
GLikely benign
NR5A1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
NR5A1
(L437P)
Single nucleotide variant
(missense variant)
NR5A1-related disorder
GUncertain significance
NR5A1
(L437Q)
Single nucleotide variant
(missense variant)
46,XY sex reversal 3
GPathogenic
NR5A1
(Y436*)
Single nucleotide variant
(nonsense)
46,XY disorder of sex development
+1 more
GUncertain significance
NR5A1
(Y436C)
Single nucleotide variant
(missense variant)
Oligosynaptic infertility
+1 more
GUncertain significance
NR5A1
(M431T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NR5A1
Single nucleotide variant
(synonymous variant)
Oligosynaptic infertility
+1 more
GBenign
NR5A1
(A428fs)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
NR5A1
(V424A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NR5A1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NR5A1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
NR5A1
(Y409*)
Single nucleotide variant
(nonsense)
46,XY disorder of sex development
+1 more
GLikely pathogenic
NR5A1
(H408P)
Single nucleotide variant
(missense variant)
Disorder of sexual differentiation
GPathogenic
NR5A1
(C407*)
Single nucleotide variant
(nonsense)
Oligosynaptic infertility
+1 more
GPathogenic
NR5A1
(Y404D)
Single nucleotide variant
(missense variant)
46,XY sex reversal 3
GPathogenic
NR5A1
Duplication
(nonsense)
not provided
GPathogenic
NR5A1
(L402P)
Single nucleotide variant
(missense variant)
46,XY disorder of sex development
+1 more
GUncertain significance
NR5A1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
NR5A1
(E395G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NR5A1
(Q394E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NR5A1
(V390fs)
Deletion
(frameshift variant)
NR5A1-related disorder
GPathogenic
NR5A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NR5A1
Single nucleotide variant
(synonymous variant)
Male infertility with azoospermia or oligozoospermia due to single gene mutation
GLikely pathogenic
NR5A1
Single nucleotide variant
(splice acceptor variant)
Oligosynaptic infertility
+1 more
GUncertain significance
NR5A1
Single nucleotide variant
(intron variant)
46,XY disorder of sex development
+1 more
GLikely benign
NR5A1
Single nucleotide variant
(intron variant)
not provided
GBenign
NR5A1
Single nucleotide variant
(intron variant)
not provided
GBenign
NR5A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NR5A1
Single nucleotide variant
(intron variant)
not provided
GBenign
NR5A1
Single nucleotide variant
(intron variant)
not provided
GBenign
NR5A1
Deletion
(splice donor variant)
46,XY disorder of sex development
+1 more
GPathogenic
NR5A1
Single nucleotide variant
(intron variant)
not provided
GBenign
NR5A1
Single nucleotide variant
(intron variant)
not provided
GBenign
NR5A1
Single nucleotide variant
(intron variant)
46,XY sex reversal 3
+2 more
GUncertain significance
NR5A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NR5A1
(L371R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NR5A1
(V369fs)
Deletion
(frameshift variant)
NR5A1-related disorder
+3 more
GPathogenic/Likely pathogenic
NR5A1
(E367Q)
Single nucleotide variant
(missense variant)
Oligosynaptic infertility
+1 more
GUncertain significance
NR5A1
(R365W)
Single nucleotide variant
(missense variant)
Oligosynaptic infertility
+1 more
GUncertain significance
NR5A1
(D364Y)
Single nucleotide variant
(missense variant)
46,XY sex reversal 3
GLikely pathogenic
NR5A1
Duplication
(inframe_insertion)
not provided
GLikely pathogenic
NR5A1
(A360V)
Single nucleotide variant
(missense variant)
Non-obstructive azoospermia
+1 more
GConflicting classifications of pathogenicity
NR5A1
(L359F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NR5A1
(L358P)
Single nucleotide variant
(missense variant)
46,XY sex reversal 3
GLikely pathogenic
NR5A1
(Q357H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NR5A1
(E353fs)
Deletion
(frameshift variant)
46,XY sex reversal 3
GPathogenic
NR5A1
(V355M)
Single nucleotide variant
(missense variant)
Male infertility
+3 more
GConflicting classifications of pathogenicity
NR5A1
(L354Q)
Single nucleotide variant
(missense variant)
NR5A1-related disorder
GUncertain significance
NR5A1
(A351V)
Single nucleotide variant
(missense variant)
Non-obstructive azoospermia
+1 more
GPathogenic/Likely pathogenic
NR5A1
(R350W)
Single nucleotide variant
(missense variant)
46,XY sex reversal 3
GPathogenic
NR5A1
Single nucleotide variant
(synonymous variant)
46,XY disorder of sex development
+1 more
GLikely benign
NR5A1
Single nucleotide variant
(splice acceptor variant)
46,XY partial gonadal dysgenesis
GPathogenic
NR5A1
Single nucleotide variant
(intron variant)
Oligosynaptic infertility
+1 more
GLikely benign
NR5A1
Single nucleotide variant
(intron variant)
Oligosynaptic infertility
+1 more
GBenign
NR5A1
Single nucleotide variant
(intron variant)
Oligosynaptic infertility
+1 more
GPathogenic
NR5A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NR5A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NR5A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NR5A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NR5A1
Single nucleotide variant
(synonymous variant)
46,XY sex reversal 3
+1 more
GLikely pathogenic
NR5A1
(Q329fs)
Deletion
(frameshift variant)
Oligosynaptic infertility
+1 more
GPathogenic
NR5A1
(G328V)
Single nucleotide variant
(missense variant)
46,XY sex reversal 3
GPathogenic
NR5A1
(G328R)
Single nucleotide variant
(missense variant)
Oligosynaptic infertility
+1 more
GLikely pathogenic
NR5A1
Single nucleotide variant
(synonymous variant)
NR5A1-related disorder
+2 more
GConflicting classifications of pathogenicity
NR5A1
(L325P)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
NR5A1
(E320*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
NR5A1
(G318S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NR5A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NR5A1
Single nucleotide variant
(synonymous variant)
Oligosynaptic infertility
+1 more
GBenign
NR5A1
(Q314H)
Single nucleotide variant
(missense variant)
46,XY disorder of sex development
+1 more
GUncertain significance
NR5A1
(Q314*)
Single nucleotide variant
(nonsense)
NR5A1-related disorder
GLikely pathogenic
NR5A1
(R313H)
Single nucleotide variant
(missense variant)
Oligosynaptic infertility
+2 more
GPathogenic/Likely pathogenic
NR5A1
(R313L)
Single nucleotide variant
(missense variant)
46,XY sex reversal 3
GLikely pathogenic
NR5A1
(R313C)
Single nucleotide variant
(missense variant)
46,XY sex reversal 3
+3 more
GPathogenic/Likely pathogenic
NR5A1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
NR5A1
(E304K)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
NR5A1
(S303R)
Single nucleotide variant
(missense variant)
Genetic non-acquired premature ovarian failure
GLikely pathogenic
NR5A1
(S303N)
Single nucleotide variant
(missense variant)
Male infertility
GLikely pathogenic
NR5A1
(S303R)
Single nucleotide variant
(missense variant)
NR5A1-related disorder
GUncertain significance
NR5A1
(Q299del)
Deletion
(inframe_deletion)
Oligosynaptic infertility
+1 more
GUncertain significance
NR5A1
(Q299*)
Single nucleotide variant
(nonsense)
Oligosynaptic infertility
+1 more
GPathogenic
NR5A1
(Q294E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NR5A1
(D293N)
Single nucleotide variant
(missense variant)
46,XY sex reversal 3
+1 more
GPathogenic
NR5A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NR5A1
Single nucleotide variant
(splice acceptor variant)
NR5A1-related disorder
GPathogenic
NR5A1
Deletion
(splice acceptor variant)
Oligosynaptic infertility
+1 more
GLikely pathogenic
NR5A1
Single nucleotide variant
(intron variant)
Oligosynaptic infertility
+1 more
GBenign
NR5A1
Single nucleotide variant
(intron variant)
Oligosynaptic infertility
+1 more
GLikely benign
NR5A1
Single nucleotide variant
(intron variant)
Oligosynaptic infertility
+2 more
GBenign
NR5A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NR5A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
Format
Items per page
Sort by
Choose Destination