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Links from MedGen

Items: 1 to 100 of 829

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RPE65
(T287fs +2 more)
Microsatellite
(frameshift variant)
Leber congenital amaurosis 2
GLikely pathogenic
RPE65
Deletion
(splice donor variant)
Leber congenital amaurosis 2
GPathogenic
RPE65
(Y374* +2 more)
Single nucleotide variant
(nonsense)
Leber congenital amaurosis 2
GPathogenic
RPE65
(Y275* +2 more)
Single nucleotide variant
(nonsense)
RPE65-related recessive retinopathy
GPathogenic
RPE65
(D186V +2 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 2
+1 more
GUncertain significance
RPE65
(V36I +2 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 2
+1 more
GUncertain significance
RPE65
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa 20
+1 more
GLikely benign
RPE65
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 20
+1 more
GLikely benign
RPE65
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa 20
+1 more
GLikely benign
RPE65
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa 20
+1 more
GLikely benign
RPE65
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 20
+1 more
GLikely benign
RPE65
(N199fs +2 more)
Deletion
(frameshift variant)
Retinitis pigmentosa 20
+1 more
GPathogenic
RPE65
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa 20
+1 more
GLikely benign
RPE65
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 20
+1 more
GLikely benign
RPE65
(Y171* +2 more)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 20
+1 more
GPathogenic
RPE65
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 20
+1 more
GLikely benign
RPE65
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 20
+1 more
GLikely benign
RPE65
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 20
+1 more
GLikely benign
RPE65
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 20
+1 more
GLikely benign
RPE65
Single nucleotide variant
(splice acceptor variant)
Retinitis pigmentosa 20
+1 more
GLikely pathogenic
RPE65
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa 20
+1 more
GLikely benign
RPE65
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 20
+1 more
GLikely benign
RPE65
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 20
+1 more
GLikely benign
RPE65
(A109V +2 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 20
+1 more
GUncertain significance
RPE65
(M249L +2 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 20
+1 more
GUncertain significance
RPE65
(Y341* +2 more)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 20
+1 more
GPathogenic
RPE65
(E3G +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 20
+1 more
GUncertain significance
RPE65
(K124* +2 more)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 20
+1 more
GPathogenic
RPE65
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa 20
+1 more
GLikely benign
RPE65
Single nucleotide variant
(synonymous variant +2 more)
Retinitis pigmentosa 20
+1 more
GLikely benign
RPE65
(Y101* +2 more)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 20
+1 more
GPathogenic
RPE65
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa 20
+1 more
GLikely benign
RPE65
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa 20
+1 more
GLikely benign
RPE65
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa 20
+1 more
GLikely benign
RPE65
Duplication
(intron variant)
Retinitis pigmentosa 20
+1 more
GBenign
RPE65
Duplication
(intron variant)
Retinitis pigmentosa 20
+1 more
GLikely benign
RPE65
(C112* +1 more)
Single nucleotide variant
(nonsense +1 more)
Retinitis pigmentosa 20
+1 more
GPathogenic
RPE65
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 20
+1 more
GLikely benign
RPE65
(Y12fs)
Duplication
(frameshift variant +2 more)
Retinitis pigmentosa 20
+1 more
GPathogenic
RPE65
(Y30* +2 more)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 20
+1 more
GPathogenic
RPE65
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 20
+1 more
GLikely benign
RPE65
(T2S +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 20
+1 more
GUncertain significance
RPE65
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 20
+1 more
GLikely benign
RPE65
Single nucleotide variant
(synonymous variant +2 more)
Retinitis pigmentosa 20
+1 more
GLikely benign
RPE65
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 2
+1 more
GLikely benign
RPE65
Single nucleotide variant
(synonymous variant +2 more)
Leber congenital amaurosis 2
+1 more
GLikely benign
RPE65
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 2
+1 more
GLikely benign
RPE65
Microsatellite
(splice donor variant)
Leber congenital amaurosis 2
+1 more
GUncertain significance
RPE65
(F242fs +2 more)
Deletion
(frameshift variant)
Leber congenital amaurosis 2
+1 more
GPathogenic
RPE65
(W176* +2 more)
Single nucleotide variant
(nonsense)
Leber congenital amaurosis 2
+1 more
GPathogenic
RPE65
(P375fs +2 more)
Duplication
(frameshift variant)
Leber congenital amaurosis 2
+1 more
GPathogenic
RPE65
(I250fs +2 more)
Deletion
(frameshift variant)
Leber congenital amaurosis 2
+1 more
GPathogenic
RPE65
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 2
+1 more
GLikely benign
RPE65
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 2
+1 more
GLikely benign
RPE65
(V19M)
Single nucleotide variant
(missense variant +2 more)
RPE65-related recessive retinopathy
GLikely pathogenic
RPE65
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 2
+1 more
GLikely benign
RPE65
(S109fs +2 more)
Deletion
(frameshift variant)
Leber congenital amaurosis 2
+1 more
GPathogenic
RPE65
(D383G)
Single nucleotide variant
(missense variant +1 more)
Leber congenital amaurosis 2
+1 more
GLikely benign
RPE65
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 20
+1 more
GLikely benign
RPE65
(G48fs)
Deletion
(frameshift variant +2 more)
Retinitis pigmentosa 20
+1 more
GPathogenic
RPE65
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 20
+1 more
GLikely benign
RPE65
Single nucleotide variant
(splice acceptor variant +1 more)
Retinitis pigmentosa 20
+1 more
GPathogenic
RPE65
Deletion
(intron variant)
Retinitis pigmentosa 20
+1 more
GLikely benign
RPE65
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 20
+1 more
GLikely benign
RPE65
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa 20
+1 more
GLikely benign
RPE65
Deletion
(intron variant)
Retinitis pigmentosa 20
+1 more
GLikely benign
RPE65
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 20
+1 more
GLikely benign
RPE65
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa 20
+1 more
GLikely benign
RPE65
(L347* +2 more)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 20
+1 more
GPathogenic
RPE65
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa 20
+1 more
GLikely benign
RPE65
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa 20
+1 more
GLikely benign
RPE65
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa 20
+1 more
GLikely benign
RPE65
Single nucleotide variant
(synonymous variant +2 more)
Retinitis pigmentosa 20
+1 more
GLikely benign
RPE65
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 20
+1 more
GLikely benign
RPE65
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa 20
+1 more
GLikely benign
RPE65
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 20
+1 more
GLikely benign
RPE65
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 2
+1 more
GLikely benign
RPE65
(A28D)
Single nucleotide variant
(missense variant +2 more)
Leber congenital amaurosis 2
+1 more
GUncertain significance
RPE65
(P17S +1 more)
Single nucleotide variant
(missense variant +1 more)
Leber congenital amaurosis 2
+1 more
GUncertain significance
RPE65
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 2
+1 more
GLikely benign
RPE65
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 2
+1 more
GLikely benign
RPE65
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 2
+1 more
GLikely benign
RPE65
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 2
+1 more
GLikely benign
RPE65
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 2
+1 more
GLikely benign
RPE65
Single nucleotide variant
(splice donor variant)
Retinitis pigmentosa 20
+1 more
GPathogenic
RPE65
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa 20
+1 more
GLikely benign
RPE65
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 20
+1 more
GLikely benign
RPE65
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 20
+1 more
GLikely benign
RPE65
Single nucleotide variant
(synonymous variant +1 more)
Retinitis pigmentosa 20
+1 more
GLikely benign
RPE65
Single nucleotide variant
(synonymous variant +2 more)
Retinitis pigmentosa 20
+1 more
GLikely benign
RPE65
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 20
+1 more
GLikely benign
RPE65
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 20
+1 more
GLikely benign
RPE65
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 20
+1 more
GLikely benign
RPE65
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 20
+1 more
GLikely benign
RPE65
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 20
+1 more
GLikely benign
RPE65
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 20
+1 more
GLikely benign
RPE65
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa 20
+1 more
GLikely benign
RPE65
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 20
+1 more
GLikely benign
RPE65
(V134I +2 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 20
+1 more
GUncertain significance
RPE65
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 20
+1 more
GLikely benign
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