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Links from MedGen

Items: 71

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDE6B
(F131S +2 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 40
GUncertain significance
PDE6B
(I357N +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 40
GLikely pathogenic
PDE6B
(R98P)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 40
GLikely pathogenic
PDE6B
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa 40
GUncertain significance
PDE6B
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 40
GUncertain significance
PDE6B
(K321M +2 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 40
GUncertain significance
PDE6B, PDE6B-AS1
(V316M +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
ATP5ME, MYL5
+2 more
Deletion
Retinitis pigmentosa 40
GPathogenic
PDE6B
(T207I +2 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 40
GLikely pathogenic
PDE6B
(E136K +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PDE6B
(Q88*)
Single nucleotide variant
(nonsense)
Congenital stationary night blindness autosomal dominant 2
+2 more
GPathogenic
PDE6B
(Y170*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 40
GPathogenic
PDE6B
(N258fs +2 more)
Deletion
(frameshift variant)
not provided
GPathogenic
PDE6B
(P108L +2 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
PDE6B, PDE6B-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Retinitis pigmentosa 40
GPathogenic
PDE6B
(H176R +2 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 40
+1 more
GConflicting classifications of pathogenicity
PDE6B
(D215N +2 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 40
+2 more
GPathogenic/Likely pathogenic
PDE6B
(L425fs +2 more)
Microsatellite
(frameshift variant)
Retinitis pigmentosa 40
GLikely pathogenic
PDE6B
(F247S +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PDE6B
(Y171C +2 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 40
GUncertain significance
PDE6B
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
PDE6B
(V75fs)
Duplication
(frameshift variant)
Retinitis pigmentosa 40
GLikely pathogenic
PDE6B
(N258fs +2 more)
Deletion
(frameshift variant)
Congenital stationary night blindness autosomal dominant 2
GPathogenic
PDE6B
(Y196C +2 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 40
GUncertain significance
PDE6B
(C717Y +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PDE6B
Deletion
(intron variant)
Retinitis pigmentosa 40
GUncertain significance
PDE6B
(H235R +2 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 40
GUncertain significance
PDE6B
(V187M)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 40
GUncertain significance
PDE6B
(Q652* +2 more)
Single nucleotide variant
(nonsense)
not provided
+4 more
GPathogenic
PDE6B
(V499M +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PDE6B
(R542W +2 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+3 more
GPathogenic/Likely pathogenic
PDE6B
Single nucleotide variant
(splice donor variant)
Retinitis pigmentosa
GPathogenic
PDE6B
(D283G +2 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
GPathogenic
PDE6B
Duplication
(inframe_insertion)
Retinitis pigmentosa
GPathogenic
PDE6B
(Y582H +2 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
GPathogenic
PDE6B-AS1, PDE6B
(Q185* +2 more)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa
GPathogenic
PDE6B
(A34V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
PDE6B
(M714L +2 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+1 more
GPathogenic/Likely pathogenic
PDE6B
(E129K)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 40
+3 more
GConflicting classifications of pathogenicity
PDE6B, PDE6B-AS1
(D279fs)
Deletion
(frameshift variant +1 more)
Retinal dystrophy
GLikely pathogenic
PDE6B
(K195*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 40
GPathogenic
PDE6B
(N803D +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDE6B
(N364fs +2 more)
Indel
(frameshift variant)
Retinitis pigmentosa 40
GPathogenic
PDE6B, PDE6B-AS1
Duplication
(splice donor variant +1 more)
Retinitis pigmentosa 40
GPathogenic
PDE6B, PDE6B-AS1
(V348fs +1 more)
Duplication
(frameshift variant +1 more)
Retinitis pigmentosa 40
GPathogenic
PDE6B
(N182K)
Single nucleotide variant
(missense variant)
Macular dystrophy
+1 more
GUncertain significance
PDE6B
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic
PDE6B
Single nucleotide variant
(intron variant)
Retinal dystrophy
+2 more
GConflicting classifications of pathogenicity
PDE6B, PDE6B-AS1
(E296* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
PDE6B
(L527P +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
PDE6B
(M559V +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Retinitis pigmentosa 40
+2 more
GBenign
PDE6B
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa 40
+3 more
GBenign/Likely benign
PDE6B
(D776N +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PDE6B, PDE6B-AS1
(F247I)
Single nucleotide variant
(missense variant +1 more)
Congenital stationary night blindness autosomal dominant 2
+3 more
GConflicting classifications of pathogenicity
PDE6B
(D718N +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
PDE6B
(T604I +2 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+2 more
GUncertain significance
PDE6B
(N364fs +2 more)
Indel
(frameshift variant)
Retinitis pigmentosa 40
+2 more
GPathogenic/Likely pathogenic
PDE6B
(E626* +2 more)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 40
GLikely pathogenic
PDE6B
(R560C +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
PDE6B
(G562D +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PDE6B
(R100H)
Single nucleotide variant
(missense variant)
PDE6B-related condition
+3 more
GConflicting classifications of pathogenicity
PDE6B
Single nucleotide variant
(splice donor variant)
PDE6B-related disorder
+6 more
GPathogenic
PDE6B, PDE6B-AS1
(V41I)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GBenign
PDE6B
(I535N +2 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 40
+2 more
GPathogenic/Likely pathogenic
PDE6B
(L129fs +2 more)
Deletion
(frameshift variant)
PDE6B-related condition
+2 more
GPathogenic/Likely pathogenic
PDE6B
(W807R +2 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 40
+1 more
GPathogenic
PDE6B
(L83fs)
Duplication
(frameshift variant)
not provided
GPathogenic
PDE6B
(H557Y +2 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+2 more
GPathogenic/Likely pathogenic
PDE6B
(T112fs +2 more)
Deletion
(frameshift variant)
Retinal dystrophy
GPathogenic
PDE6B
(R531* +2 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
PDE6B, PDE6B-AS1
(Q298* +1 more)
Single nucleotide variant
(nonsense +1 more)
Retinal dystrophy
+3 more
GPathogenic
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