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Links from MedGen

Items: 1 to 100 of 156

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BEST1
(L165I +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+1 more
GUncertain significance
FTH1, BEST1
(S379A +3 more)
Single nucleotide variant
(missense variant +3 more)
Vitelliform macular dystrophy 2
GPathogenic
BEST1
(T6K)
Single nucleotide variant
(missense variant +2 more)
Vitelliform macular dystrophy 2
+1 more
GLikely pathogenic
BEST1
(D195H +3 more)
Single nucleotide variant
(missense variant +3 more)
Vitelliform macular dystrophy 2
GLikely pathogenic
BEST1
(R122W +2 more)
Single nucleotide variant
(missense variant +2 more)
Vitelliform macular dystrophy 2
GLikely pathogenic
BEST1
(S140N +2 more)
Single nucleotide variant
(missense variant +2 more)
Vitelliform macular dystrophy 2
GPathogenic
BEST1
(N35Y +1 more)
Single nucleotide variant
(missense variant +2 more)
Vitelliform macular dystrophy 2
GLikely pathogenic
BEST1
Single nucleotide variant
(intron variant)
not provided
+4 more
GBenign
BEST1
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 50
+4 more
GBenign
BEST1
Single nucleotide variant
(intron variant)
Autosomal recessive bestrophinopathy
+4 more
GBenign
BEST1
(R250* +4 more)
Single nucleotide variant
(nonsense +2 more)
not provided
GPathogenic
BEST1
(E194* +4 more)
Single nucleotide variant
(nonsense +2 more)
not provided
+1 more
GPathogenic/Likely pathogenic
BEST1
(C393R +5 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
BEST1
(D217V +4 more)
Single nucleotide variant
(missense variant +2 more)
Vitelliform macular dystrophy 2
GUncertain significance
BEST1
(D197Y +3 more)
Single nucleotide variant
(missense variant +3 more)
Vitelliform macular dystrophy 2
GLikely pathogenic
BEST1
(K187R +4 more)
Single nucleotide variant
(missense variant +2 more)
Autosomal dominant vitreoretinochoroidopathy
+4 more
GUncertain significance
BEST1
(E107G +2 more)
Single nucleotide variant
(missense variant +2 more)
Autosomal recessive bestrophinopathy
+2 more
GConflicting classifications of pathogenicity
BEST1
(V143L +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
PRPH2
(K325fs)
Deletion
(frameshift variant)
Vitelliform macular dystrophy 2
GUncertain significance
PRPH2
(Y204*)
Single nucleotide variant
(nonsense)
Stargardt disease
+3 more
GPathogenic
IMPG2
(S958G)
Single nucleotide variant
(missense variant)
Vitelliform macular dystrophy 2
+1 more
GConflicting classifications of pathogenicity
BEST1
(R45G +1 more)
Single nucleotide variant
(missense variant +2 more)
Vitelliform macular dystrophy 2
GUncertain significance
BEST1
(E376fs +4 more)
Deletion
(frameshift variant +2 more)
not provided
+2 more
GPathogenic/Likely pathogenic
BEST1
(N119del +2 more)
Microsatellite
(inframe_deletion +2 more)
not provided
+2 more
GUncertain significance
BEST1
(D236E +4 more)
Single nucleotide variant
(missense variant +2 more)
Vitelliform macular dystrophy 2
GUncertain significance
BEST1, FTH1
Single nucleotide variant
(3 prime UTR variant +1 more)
Retinitis pigmentosa
+3 more
GUncertain significance
BEST1
(E424* +5 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+3 more
GUncertain significance
BEST1
Single nucleotide variant
(3 prime UTR variant +1 more)
Retinitis pigmentosa
+2 more
GConflicting classifications of pathogenicity
BEST1
(R225W +4 more)
Single nucleotide variant
(missense variant +2 more)
Autosomal dominant vitreoretinochoroidopathy
+3 more
GConflicting classifications of pathogenicity
BEST1
Single nucleotide variant
(intron variant)
Retinitis pigmentosa
+3 more
GConflicting classifications of pathogenicity
BEST1
(E363K +4 more)
Single nucleotide variant
(missense variant +2 more)
Retinitis pigmentosa
+3 more
GUncertain significance
BEST1
Single nucleotide variant
(synonymous variant +2 more)
Retinitis pigmentosa
+3 more
GConflicting classifications of pathogenicity
BEST1
(P101L +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GPathogenic/Likely pathogenic
BEST1
(P17T +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa
+2 more
GUncertain significance
PRPH2
(D207G)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+2 more
GUncertain significance
PRPH2
(S301fs)
Deletion
(frameshift variant)
Patterned dystrophy of the retinal pigment epithelium
+3 more
GPathogenic/Likely pathogenic
BEST1
(A12G)
Single nucleotide variant
(missense variant +2 more)
Vitelliform macular dystrophy 2
+1 more
GUncertain significance
BEST1
Duplication
(inframe_insertion +2 more)
Vitelliform macular dystrophy 2
+1 more
GPathogenic/Likely pathogenic
IMPG2
(G152D)
Single nucleotide variant
(missense variant)
Vitelliform macular dystrophy 2
GPathogenic
PRPH2
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic
IMPG1
Single nucleotide variant
(splice donor variant)
Vitelliform macular dystrophy 2
GPathogenic
BEST1
(Q115* +4 more)
Single nucleotide variant
(nonsense +2 more)
not provided
+1 more
GPathogenic
BEST1
(Y224F +2 more)
Single nucleotide variant
(missense variant +2 more)
Vitelliform macular dystrophy 2
GPathogenic
PRPH2
(L271del)
Microsatellite
(inframe_deletion)
Vitelliform macular dystrophy 2
+2 more
GConflicting classifications of pathogenicity
BEST1
(D243V +3 more)
Single nucleotide variant
(missense variant +3 more)
Vitelliform macular dystrophy 2
GPathogenic
BEST1
(G135D +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GPathogenic
BEST1
(E38D +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GPathogenic
BEST1
(I13N +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
BEST1
(Q58E)
Single nucleotide variant
(5 prime UTR variant +2 more)
Vitelliform macular dystrophy 2
GLikely pathogenic
BEST1
(D312E +3 more)
Single nucleotide variant
(missense variant +3 more)
not provided
GPathogenic
BEST1
(D302A +3 more)
Single nucleotide variant
(missense variant +3 more)
not provided
GPathogenic
BEST1
(D302N +3 more)
Single nucleotide variant
(missense variant +3 more)
Vitelliform macular dystrophy 2
GPathogenic
BEST1
(L20V)
Single nucleotide variant
(missense variant +2 more)
Vitelliform macular dystrophy 2
GPathogenic
BEST1
(N99H +1 more)
Single nucleotide variant
(missense variant +2 more)
Vitelliform macular dystrophy 2
GLikely pathogenic
BEST1
(Q96R +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GPathogenic
BEST1
(L366fs +4 more)
Deletion
(frameshift variant +2 more)
not provided
+1 more
GPathogenic/Likely pathogenic
BEST1
(Y29C)
Single nucleotide variant
(missense variant +2 more)
Vitelliform macular dystrophy 2
+1 more
GLikely pathogenic
BEST1
(F305L +3 more)
Single nucleotide variant
(missense variant +3 more)
Vitelliform macular dystrophy 2
GLikely pathogenic
BEST1
(N296K +3 more)
Single nucleotide variant
(missense variant +3 more)
Vitelliform macular dystrophy 2
GPathogenic
BEST1
(V81M +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinal dystrophy
+1 more
GPathogenic/Likely pathogenic
BEST1
(S108R +2 more)
Single nucleotide variant
(missense variant +2 more)
Vitelliform macular dystrophy 2
GUncertain significance
BEST1
(W182R +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Vitelliform macular dystrophy 2
GUncertain significance
BEST1
(E292Q +3 more)
Single nucleotide variant
(missense variant +3 more)
Vitelliform macular dystrophy 2
GLikely pathogenic
BEST1
(D304N +3 more)
Single nucleotide variant
(missense variant +3 more)
Vitelliform macular dystrophy 2
GPathogenic
BEST1
(Q132fs +2 more)
Deletion
(frameshift variant +2 more)
Vitelliform macular dystrophy 2
+1 more
GPathogenic/Likely pathogenic
BEST1
(V9G)
Single nucleotide variant
(missense variant +2 more)
Vitelliform macular dystrophy 2
GLikely pathogenic
BEST1
(N179D +2 more)
Single nucleotide variant
(missense variant +2 more)
Vitelliform macular dystrophy 2
GLikely pathogenic
BEST1
(A352T +4 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+5 more
GConflicting classifications of pathogenicity
IMPG2
(R1048W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
BEST1, FTH1
(K54R)
Single nucleotide variant
(missense variant +1 more)
FTH1-related disorder
+6 more
GBenign/Likely benign
BEST1, FTH1
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant vitreoretinochoroidopathy
+5 more
GBenign/Likely benign
BEST1, FTH1
Single nucleotide variant
(3 prime UTR variant)
Vitelliform macular dystrophy 2
+5 more
GBenign
BEST1, FTH1
Single nucleotide variant
(3 prime UTR variant +1 more)
Retinitis pigmentosa
+3 more
GUncertain significance
BEST1, FTH1
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant vitreoretinochoroidopathy
+5 more
GBenign/Likely benign
BEST1, FTH1
Single nucleotide variant
(3 prime UTR variant +1 more)
Retinitis pigmentosa
+5 more
GConflicting classifications of pathogenicity
BEST1, FTH1
Single nucleotide variant
(3 prime UTR variant +1 more)
Retinitis pigmentosa
+4 more
GConflicting classifications of pathogenicity
BEST1, FTH1
Single nucleotide variant
(3 prime UTR variant +1 more)
Iron Overload
+5 more
GBenign/Likely benign
BEST1, FTH1
Single nucleotide variant
(3 prime UTR variant +1 more)
Vitelliform macular dystrophy 2
+5 more
GConflicting classifications of pathogenicity
BEST1
(E528G +4 more)
Single nucleotide variant
(missense variant +2 more)
Retinitis pigmentosa
+2 more
GUncertain significance
BEST1, FTH1
(S507P +4 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+6 more
GConflicting classifications of pathogenicity
BEST1
(P486L +4 more)
Single nucleotide variant
(missense variant +2 more)
Vitelliform macular dystrophy 2
+2 more
GUncertain significance
BEST1
(A444T +4 more)
Single nucleotide variant
(missense variant +2 more)
Vitelliform macular dystrophy 2
+2 more
GUncertain significance
BEST1
(H386P +4 more)
Single nucleotide variant
(missense variant +2 more)
Vitelliform macular dystrophy 2
+2 more
GUncertain significance
BEST1, FTH1
Single nucleotide variant
(synonymous variant +2 more)
Retinitis pigmentosa
+6 more
GConflicting classifications of pathogenicity
FTH1, BEST1
(A357V +5 more)
Single nucleotide variant
(missense variant +1 more)
Retinal dystrophy
+6 more
GConflicting classifications of pathogenicity
BEST1, FTH1
(R355H +5 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa
+5 more
GConflicting classifications of pathogenicity
BEST1
(P386R)
Single nucleotide variant
(synonymous variant +3 more)
not provided
+3 more
GConflicting classifications of pathogenicity
BEST1
Single nucleotide variant
(synonymous variant +2 more)
not provided
+4 more
GConflicting classifications of pathogenicity
BEST1
Single nucleotide variant
(synonymous variant +2 more)
not provided
+4 more
GConflicting classifications of pathogenicity
BEST1
Single nucleotide variant
(synonymous variant +2 more)
Retinitis pigmentosa
+2 more
GUncertain significance
BEST1
Single nucleotide variant
(synonymous variant +1 more)
Retinitis pigmentosa
+3 more
GBenign/Likely benign
BEST1
Single nucleotide variant
(intron variant)
Autosomal dominant vitreoretinochoroidopathy
+3 more
GConflicting classifications of pathogenicity
BEST1
Single nucleotide variant
(5 prime UTR variant +1 more)
Retinitis pigmentosa
+2 more
GUncertain significance
BEST1
Single nucleotide variant
(5 prime UTR variant)
Autosomal dominant vitreoretinochoroidopathy
+2 more
GUncertain significance
BEST1
Single nucleotide variant
(5 prime UTR variant)
Autosomal dominant vitreoretinochoroidopathy
+2 more
GUncertain significance
BEST1
Single nucleotide variant
(5 prime UTR variant)
Autosomal dominant vitreoretinochoroidopathy
+3 more
GBenign
BEST1
Single nucleotide variant
(5 prime UTR variant)
not provided
+3 more
GBenign
BEST1
Single nucleotide variant
(5 prime UTR variant)
Retinitis Pigmentosa, Recessive
+2 more
GLikely benign
BEST1
Single nucleotide variant
(5 prime UTR variant)
Retinitis Pigmentosa, Recessive
+2 more
GLikely benign
BEST1
Single nucleotide variant
(5 prime UTR variant)
Autosomal dominant vitreoretinochoroidopathy
+2 more
GLikely benign
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