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Links from MedGen

Items: 61

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NR5A1
(Y5*)
Single nucleotide variant
(nonsense)
46,XY sex reversal 3
GLikely pathogenic
NR5A1
(S21A)
Single nucleotide variant
(missense variant)
46,XY sex reversal 3
GLikely pathogenic
NR5A1
(V369fs)
Deletion
(frameshift variant)
Oligosynaptic infertility
+3 more
GPathogenic/Likely pathogenic
NR5A1
(C55fs)
Deletion
(frameshift variant)
46,XY sex reversal 3
GPathogenic
NR5A1
(Q206K)
Single nucleotide variant
(missense variant)
46,XY sex reversal 3
GUncertain significance
NR5A1
(C55Y)
Single nucleotide variant
(missense variant)
46,XY sex reversal 3
GUncertain significance
NR5A1
(G328V)
Single nucleotide variant
(missense variant)
46,XY sex reversal 3
GPathogenic
NR5A1
(L358P)
Single nucleotide variant
(missense variant)
46,XY sex reversal 3
GLikely pathogenic
NR5A1
(D364Y)
Single nucleotide variant
(missense variant)
46,XY sex reversal 3
GLikely pathogenic
NR5A1
(V15A)
Single nucleotide variant
(missense variant)
46,XY sex reversal 3
GLikely pathogenic
NR5A1
(R87C)
Single nucleotide variant
(missense variant)
Oligosynaptic infertility
+2 more
GPathogenic
NR5A1
(R241W)
Single nucleotide variant
(missense variant)
Oligosynaptic infertility
+2 more
GUncertain significance
NR5A1
(S4*)
Single nucleotide variant
(nonsense)
46,XY sex reversal 3
GPathogenic
NR5A1
(C30Y)
Single nucleotide variant
(missense variant)
46,XY sex reversal 3
GUncertain significance
NR5A1
(F95S)
Single nucleotide variant
(missense variant)
46,XY sex reversal 3
GUncertain significance
NR5A1
(R350W)
Single nucleotide variant
(missense variant)
46,XY sex reversal 3
GPathogenic
NR5A1
(C33R)
Single nucleotide variant
(missense variant)
46,XY sex reversal 3
GLikely pathogenic
NR5A1
(E7*)
Single nucleotide variant
(nonsense)
46,XY sex reversal 3
GPathogenic
NR5A1
(Y47C)
Single nucleotide variant
(missense variant)
46,XY sex reversal 3
GLikely pathogenic
NR5A1
(R84C)
Single nucleotide variant
(missense variant)
46,XY sex reversal 3
GLikely pathogenic
NR5A1
(D238N)
Single nucleotide variant
(missense variant)
Oligosynaptic infertility
+6 more
GConflicting classifications of pathogenicity
NR5A1
Single nucleotide variant
(intron variant)
46,XY disorder of sex development
+2 more
GUncertain significance
NR5A1
Deletion
46,XY sex reversal 3
+1 more
GPathogenic
ZFPM2, ZFPM2-AS1
(L475del +2 more)
Deletion
(inframe_deletion)
46,XY sex reversal 9
GUncertain significance
ZFPM2-AS1, ZFPM2
(K458N +2 more)
Single nucleotide variant
(missense variant)
46,XY sex reversal 3
GBenign
ZFPM2, ZFPM2-AS1
(L203V +2 more)
Single nucleotide variant
(missense variant)
46,XY sex reversal 9
GBenign
ZFPM2, ZFPM2-AS1
(E287K +2 more)
Single nucleotide variant
(missense variant)
46,XY sex reversal 3
GBenign
ZFPM2, ZFPM2-AS1
(V406I +2 more)
Single nucleotide variant
(missense variant)
46,XY sex reversal 9
+1 more
GLikely benign
GATA4
(W228C +2 more)
Single nucleotide variant
(missense variant)
46,XY sex reversal 3
GPathogenic
NR5A1
(L152fs)
Deletion
(frameshift variant)
46,XY sex reversal 3
GLikely pathogenic
NR5A1
Single nucleotide variant
(synonymous variant)
Non-obstructive azoospermia
+1 more
GLikely pathogenic
NR5A1
(R84H)
Single nucleotide variant
(missense variant)
46,XY disorder of sex development
+3 more
GPathogenic/Likely pathogenic
NR5A1
Deletion
Oligosynaptic infertility
+2 more
GLikely pathogenic
NR5A1
(R79del)
Deletion
(inframe_deletion)
46,XY sex reversal 3
+1 more
GUncertain significance
NR5A1
(L12fs)
Indel
(frameshift variant)
46,XY sex reversal 3
GPathogenic
NR5A1
(R313L)
Single nucleotide variant
(missense variant)
46,XY sex reversal 3
GLikely pathogenic
GATA4
(P394T +3 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
NR5A1
(R313C)
Single nucleotide variant
(missense variant)
Oligosynaptic infertility
+3 more
GPathogenic/Likely pathogenic
NR5A1
(R92W)
Single nucleotide variant
(missense variant)
Oligosynaptic infertility
+4 more
GConflicting classifications of pathogenicity
ZFPM2, ZFPM2-AS1
(S210T +2 more)
Single nucleotide variant
(missense variant)
46,XY sex reversal 9
+2 more
GBenign/Likely benign
ZFPM2
(D98N +1 more)
Single nucleotide variant
(missense variant +1 more)
ZFPM2-related condition
+2 more
GBenign/Likely benign
NR5A1
(Y404D)
Single nucleotide variant
(missense variant)
46,XY sex reversal 3
GPathogenic
NR5A1
(E51*)
Single nucleotide variant
(nonsense)
46,XY sex reversal 3
GPathogenic
ZFPM2, ZFPM2-AS1
(M544I +2 more)
Single nucleotide variant
(missense variant)
ZFPM2-related condition
+3 more
GConflicting classifications of pathogenicity
GATA4
(P407Q +3 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
GATA4
(A346V +3 more)
Single nucleotide variant
(missense variant)
GATA4-related condition
+4 more
GLikely benign
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
NR5A1
(L437Q)
Single nucleotide variant
(missense variant)
46,XY sex reversal 3
GPathogenic
NR5A1
(G91S)
Single nucleotide variant
(missense variant)
46,XY sex reversal 3
GPathogenic
NR5A1
(M78I)
Single nucleotide variant
(missense variant)
46,XY sex reversal 3
GPathogenic
NR5A1
(V15M)
Single nucleotide variant
(missense variant)
46,XY sex reversal 3
GPathogenic
NR5A1
(D6fs)
Deletion
(frameshift variant)
46,XY sex reversal 3
GPathogenic
NR5A1
(C16*)
Single nucleotide variant
(nonsense)
46,XY sex reversal 3
GPathogenic
NR5A1
(E353fs)
Deletion
(frameshift variant)
46,XY sex reversal 3
GPathogenic
NR5A1
(R92Q)
Single nucleotide variant
(missense variant)
46,XY sex reversal 3
+2 more
GPathogenic
NR5A1
(G35E)
Indel
(missense variant)
46,XY sex reversal 3
GPathogenic
ZFPM2, ZFPM2-AS1
(M703L +2 more)
Single nucleotide variant
(missense variant)
ZFPM2-related condition
+2 more
GBenign/Likely benign
ZFPM2
(E30G)
Single nucleotide variant
(5 prime UTR variant +2 more)
ZFPM2-related condition
+3 more
GBenign/Likely benign
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