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Items: 1 to 100 of 879

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BEST1
Single nucleotide variant
(5 prime UTR variant)
Vitelliform macular dystrophy 2
+2 more
GLikely benign
BEST1
Single nucleotide variant
(5 prime UTR variant)
Vitelliform macular dystrophy 2
+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)
Retinitis Pigmentosa, Recessive
+3 more
GBenign
BEST1
Single nucleotide variant
(5 prime UTR variant)
Retinitis Pigmentosa, Recessive
+3 more
GBenign
BEST1
Single nucleotide variant
(5 prime UTR variant)
Retinitis Pigmentosa, Recessive
+2 more
GUncertain significance
BEST1
Single nucleotide variant
(5 prime UTR variant)
Retinitis Pigmentosa, Recessive
+2 more
GUncertain significance
BEST1
Single nucleotide variant
(5 prime UTR variant +1 more)
Retinitis pigmentosa
+2 more
GUncertain significance
BEST1
Single nucleotide variant
(splice donor variant)
Autosomal recessive bestrophinopathy
GLikely pathogenic
BEST1
Single nucleotide variant
(intron variant)
not provided
GLikely pathogenic
BEST1
Single nucleotide variant
(intron variant)
not provided
GBenign
BEST1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
BEST1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
BEST1
Single nucleotide variant
(intron variant)
not provided
GBenign
BEST1
Single nucleotide variant
(intron variant)
not provided
GBenign
BEST1
(M1V)
Single nucleotide variant
(missense variant +3 more)
not provided
GPathogenic
BEST1
(T2S)
Single nucleotide variant
(missense variant +2 more)
Retinal dystrophy
+1 more
GPathogenic/Likely pathogenic
BEST1
(I3N)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely pathogenic
BEST1
(T4I)
Single nucleotide variant
(missense variant +2 more)
not provided
GPathogenic
BEST1
(Y5N)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
BEST1
(T6A)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GPathogenic/Likely pathogenic
BEST1
(T6P)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
+1 more
GPathogenic
BEST1
(T6K)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GLikely pathogenic
BEST1
(T6R)
Single nucleotide variant
(missense variant +2 more)
not provided
GPathogenic/Likely pathogenic
BEST1
(S7N)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
BEST1
(V9L)
Single nucleotide variant
(missense variant +2 more)
not provided
GPathogenic
BEST1
(V9M)
Single nucleotide variant
(missense variant +2 more)
Vitelliform macular dystrophy 2
GPathogenic
BEST1
(V9G)
Single nucleotide variant
(missense variant +2 more)
Vitelliform macular dystrophy 2
GLikely pathogenic
BEST1
(V9A)
Single nucleotide variant
(missense variant +2 more)
not provided
Gnot provided
BEST1
(A10T)
Single nucleotide variant
(missense variant +2 more)
Retinal dystrophy
+1 more
GPathogenic
BEST1
(A10V)
Single nucleotide variant
(missense variant +2 more)
not provided
GPathogenic
BEST1
(N11S)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely pathogenic
BEST1
(N11I)
Single nucleotide variant
(missense variant +2 more)
not provided
Gnot provided
BEST1
(N11K)
Single nucleotide variant
(missense variant +2 more)
not provided
GConflicting classifications of pathogenicity
BEST1
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
BEST1
(A12D)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
BEST1
(A12V)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
BEST1
(A12G)
Single nucleotide variant
(missense variant +2 more)
Vitelliform macular dystrophy 2
+1 more
GUncertain significance
BEST1
(R13G)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GPathogenic/Likely pathogenic
BEST1
(R13C)
Single nucleotide variant
(missense variant +2 more)
Vitelliform macular dystrophy 2
+2 more
GConflicting classifications of pathogenicity
BEST1
(R13P)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely pathogenic
BEST1
(R13H)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GPathogenic/Likely pathogenic
BEST1
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
BEST1
(L14S)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
BEST1
(G15D)
Single nucleotide variant
(missense variant +2 more)
not provided
GPathogenic
BEST1
(S16P)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GLikely pathogenic
BEST1
(S16Y)
Single nucleotide variant
(missense variant +2 more)
not provided
GPathogenic
BEST1
(S16F)
Single nucleotide variant
(missense variant +2 more)
not provided
GPathogenic
BEST1
(F17del)
Deletion
(inframe_deletion +2 more)
not provided
GUncertain significance
BEST1
(F17I)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely pathogenic
BEST1
(F17Y)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely pathogenic
BEST1
(F17C)
Single nucleotide variant
(missense variant +2 more)
not provided
Gnot provided
BEST1
(F17L)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
BEST1
(R19C)
Single nucleotide variant
(missense variant +2 more)
not provided
GConflicting classifications of pathogenicity
BEST1
(R19H)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely pathogenic
BEST1
(L20V)
Single nucleotide variant
(missense variant +2 more)
Vitelliform macular dystrophy 2
GPathogenic
BEST1
(L20P)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely pathogenic
BEST1
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
BEST1
(L21V)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely pathogenic
BEST1
(L21R)
Single nucleotide variant
(intron variant +2 more)
not provided
GPathogenic
BEST1
(L21Q)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely pathogenic
BEST1
Single nucleotide variant
(intron variant +2 more)
not provided
GLikely benign
BEST1
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
BEST1
(W24R)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely pathogenic
BEST1
(W24*)
Single nucleotide variant
(nonsense +2 more)
not provided
GPathogenic
BEST1
(W24C)
Single nucleotide variant
(missense variant +2 more)
not provided
GPathogenic
BEST1
(R25W)
Single nucleotide variant
(missense variant +2 more)
Vitelliform macular dystrophy 2
+1 more
GPathogenic/Likely pathogenic
BEST1
(R25Q)
Single nucleotide variant
(missense variant +2 more)
Autosomal recessive bestrophinopathy
+1 more
GPathogenic
BEST1
(G26S)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely pathogenic
BEST1
(G26D)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
BEST1
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
BEST1
(S27G)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely pathogenic
BEST1
(S27N)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely pathogenic
BEST1
(S27R)
Single nucleotide variant
(missense variant +2 more)
not provided
Gnot provided
BEST1
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
BEST1
(L31fs)
Duplication
(frameshift variant +2 more)
not provided
GPathogenic
BEST1
(Y29H)
Single nucleotide variant
(missense variant +2 more)
not provided
GPathogenic
BEST1
(Y29C)
Single nucleotide variant
(missense variant +2 more)
Vitelliform macular dystrophy 2
+1 more
GLikely pathogenic
BEST1
Single nucleotide variant
(synonymous variant +2 more)
not provided
Gnot provided
BEST1
(Y29*)
Single nucleotide variant
(nonsense +2 more)
not provided
GPathogenic
BEST1
(K30R)
Single nucleotide variant
(missense variant +2 more)
Retinal dystrophy
+2 more
GConflicting classifications of pathogenicity
BEST1
(L31R)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely pathogenic
BEST1
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
BEST1
(L32P)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely pathogenic
BEST1
(Y33D)
Single nucleotide variant
(missense variant +2 more)
Retinal dystrophy
GUncertain significance
BEST1
(Y33H)
Single nucleotide variant
(missense variant +2 more)
Retinal dystrophy
+1 more
GConflicting classifications of pathogenicity
BEST1
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
BEST1
Single nucleotide variant
(synonymous variant +2 more)
not provided
GPathogenic
BEST1
(E35K)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GPathogenic/Likely pathogenic
BEST1
(E35D)
Single nucleotide variant
(missense variant +2 more)
Autosomal recessive bestrophinopathy
GUncertain significance
BEST1
(L37P)
Indel
(missense variant +2 more)
not provided
GUncertain significance
BEST1
Single nucleotide variant
(synonymous variant +2 more)
not provided
+7 more
GBenign
BEST1
(I38S)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
BEST1
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
BEST1
(L41fs)
Duplication
(frameshift variant +2 more)
not provided
GPathogenic
BEST1
(L41P)
Single nucleotide variant
(missense variant +2 more)
not provided
GPathogenic
BEST1
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
BEST1
(I45V)
Single nucleotide variant
(intron variant +2 more)
not provided
GUncertain significance
BEST1
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
BEST1
(I46T)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
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