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Items: 1 to 100 of 754

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130057816, LOC130057817
+1763 more
Copy number gain
See cases
GPathogenic
ADPGK, ADPGK-AS1
+196 more
Copy number loss
See cases
GPathogenic
LOC121530589, LOC121530590
+487 more
Copy number loss
See cases
GPathogenic
NR2E3
Single nucleotide variant
Enhanced S-cone syndrome
+1 more
GLikely benign
NR2E3
Single nucleotide variant
(5 prime UTR variant)
Retinitis pigmentosa
+2 more
GUncertain significance
NR2E3
Single nucleotide variant
(5 prime UTR variant)
Retinitis Pigmentosa, Recessive
+1 more
GUncertain significance
NR2E3
Single nucleotide variant
(5 prime UTR variant)
Retinitis Pigmentosa, Recessive
+1 more
GUncertain significance
NR2E3
Single nucleotide variant
(5 prime UTR variant)
Enhanced S-cone syndrome
+1 more
GUncertain significance
NR2E3
(M1T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NR2E3
(M1K)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NR2E3
(M1R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NR2E3
(E2G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NR2E3
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
NR2E3
(R4K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NR2E3
(L8P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NR2E3
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa
+2 more
GConflicting classifications of pathogenicity
NR2E3
(S11fs)
Deletion
(frameshift variant)
not provided
GPathogenic
NR2E3
(S11A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NR2E3
(V13fs)
Deletion
(frameshift variant)
not provided
GPathogenic
NR2E3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NR2E3
(V13L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NR2E3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NR2E3
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa 37
+2 more
GLikely benign
NR2E3
(A16V)
Single nucleotide variant
(missense variant)
Goldmann-Favre syndrome
GUncertain significance
NR2E3
(P18fs)
Insertion
(frameshift variant)
not provided
GPathogenic
NR2E3
(A17V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
NR2E3
Single nucleotide variant
(synonymous variant)
NR2E3-related condition
+1 more
GLikely benign
NR2E3
(P18S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NR2E3
(G21E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NR2E3
(A23P)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 37
+2 more
GUncertain significance
NR2E3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NR2E3
(R25fs)
Deletion
(frameshift variant)
not provided
GPathogenic
NR2E3
(K26Q)
Single nucleotide variant
(missense variant)
NR2E3-related condition
+1 more
GBenign/Likely benign
NR2E3
(S28T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NR2E3
Single nucleotide variant
(synonymous variant)
Goldmann-Favre syndrome
GUncertain significance
NR2E3
(R31G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NR2E3
(R31I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NR2E3
(W32*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
NR2E3
(G33V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NR2E3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NR2E3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NR2E3
(T39fs)
Deletion
(frameshift variant)
not provided
GPathogenic
NR2E3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NR2E3
(T39I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NR2E3
Single nucleotide variant
(splice donor variant)
Enhanced S-cone syndrome
GLikely pathogenic
NR2E3
Single nucleotide variant
(splice donor variant)
Enhanced S-cone syndrome
+1 more
GLikely pathogenic
NR2E3
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
NR2E3
Deletion
(intron variant)
not provided
GLikely benign
NR2E3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NR2E3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NR2E3
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
NR2E3
Single nucleotide variant
(intron variant)
Retinal dystrophy
GUncertain significance
NR2E3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NR2E3
Single nucleotide variant
(intron variant)
not provided
GBenign
NR2E3
Deletion
(intron variant)
not provided
GUncertain significance
NR2E3
Deletion
(intron variant)
not provided
GLikely benign
NR2E3
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
NR2E3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NR2E3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NR2E3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NR2E3
Insertion
(intron variant)
not provided
GLikely benign
NR2E3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NR2E3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NR2E3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NR2E3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NR2E3
Single nucleotide variant
(intron variant)
Retinal dystrophy
GUncertain significance
NR2E3
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
NR2E3
Duplication
(intron variant)
not provided
GLikely benign
NR2E3
Deletion
(intron variant)
not provided
GLikely benign
NR2E3
Single nucleotide variant
(intron variant)
Goldmann-Favre syndrome
GUncertain significance
NR2E3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NR2E3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NR2E3
Single nucleotide variant
(intron variant)
Enhanced S-cone syndrome
+3 more
GConflicting classifications of pathogenicity
NR2E3
Single nucleotide variant
(intron variant)
Enhanced S-cone syndrome
+2 more
GConflicting classifications of pathogenicity
NR2E3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NR2E3
Single nucleotide variant
(splice acceptor variant)
Enhanced S-cone syndrome
GLikely pathogenic
NR2E3
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic
NR2E3
Single nucleotide variant
(splice acceptor variant)
Inborn genetic diseases
+11 more
GPathogenic/Likely pathogenic
NR2E3
Deletion
not provided
GPathogenic
NR2E3
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic
NR2E3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NR2E3
(V41M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NR2E3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NR2E3
Single nucleotide variant
(synonymous variant)
Retinal dystrophy
+3 more
GConflicting classifications of pathogenicity
NR2E3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NR2E3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NR2E3
(G51fs)
Duplication
(frameshift variant)
not provided
GPathogenic
NR2E3
(S44*)
Single nucleotide variant
(nonsense)
Enhanced S-cone syndrome
+1 more
GPathogenic
NR2E3
(S44L)
Single nucleotide variant
(missense variant)
Enhanced S-cone syndrome
+3 more
GUncertain significance
NR2E3
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
NR2E3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NR2E3
(L45F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NR2E3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NR2E3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NR2E3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NR2E3
(Q46*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
NR2E3
(Q46H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NR2E3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NR2E3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NR2E3
(C50fs)
Duplication
(frameshift variant)
not provided
GPathogenic
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