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Links from MedGen

Items: 1 to 100 of 1692

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CRB1
Deletion
Leber congenital amaurosis 8
+1 more
GPathogenic
CRB1
Deletion
Leber congenital amaurosis 8
+1 more
GPathogenic
CRB1
Deletion
Leber congenital amaurosis 8
+1 more
GPathogenic
CRB1
Deletion
Leber congenital amaurosis 8
+1 more
GPathogenic
CRB1
Single nucleotide variant
(splice donor variant +1 more)
Leber congenital amaurosis 8
GLikely pathogenic
CRB1
(S1140fs +3 more)
Duplication
(frameshift variant +1 more)
Leber congenital amaurosis 8
GLikely pathogenic
CRB1
(T319fs +2 more)
Indel
(frameshift variant +1 more)
Leber congenital amaurosis 8
GLikely pathogenic
CRB1
(C219fs +1 more)
Deletion
(frameshift variant +2 more)
Leber congenital amaurosis 8
GLikely pathogenic
CRB1
(A138fs +1 more)
Deletion
(frameshift variant +1 more)
Leber congenital amaurosis 8
GLikely pathogenic
CRB1
(D124fs +1 more)
Deletion
(frameshift variant +1 more)
Leber congenital amaurosis 8
GLikely pathogenic
CRB1
Single nucleotide variant
(splice donor variant +1 more)
Leber congenital amaurosis 8
GPathogenic
CRB1
(C1031* +2 more)
Single nucleotide variant
(nonsense +2 more)
Leber congenital amaurosis 8
GLikely pathogenic
CRB1
(Y691* +2 more)
Duplication
(nonsense +2 more)
Leber congenital amaurosis 8
GLikely pathogenic
CRB1
(N1000fs +2 more)
Deletion
(frameshift variant +2 more)
Leber congenital amaurosis 8
GLikely pathogenic
CRB1
(L1008* +2 more)
Single nucleotide variant
(nonsense +2 more)
Leber congenital amaurosis 8
GPathogenic
CRB1
Deletion
(splice acceptor variant)
Leber congenital amaurosis 8
GLikely pathogenic
CRB1
(D452Y +2 more)
Single nucleotide variant
(missense variant +1 more)
Leber congenital amaurosis 8
+1 more
GPathogenic/Likely pathogenic
CRB1
Single nucleotide variant
(synonymous variant +2 more)
Leber congenital amaurosis 8
+1 more
GLikely benign
CRB1
(A595fs +2 more)
Deletion
(frameshift variant +1 more)
Leber congenital amaurosis 8
+1 more
GPathogenic
CRB1
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 8
+1 more
GLikely benign
CRB1
Single nucleotide variant
(synonymous variant +1 more)
Leber congenital amaurosis 8
+1 more
GLikely benign
CRB1
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 8
+1 more
GLikely benign
CRB1
Single nucleotide variant
(splice acceptor variant +1 more)
Leber congenital amaurosis 8
+1 more
GPathogenic
CRB1
(N1205fs +3 more)
Deletion
(frameshift variant +1 more)
Retinitis pigmentosa 12
+1 more
GPathogenic
CRB1
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 12
+1 more
GLikely benign
CRB1
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 12
+1 more
GLikely benign
CRB1
(L346* +2 more)
Single nucleotide variant
(nonsense +1 more)
Retinitis pigmentosa 12
+1 more
GPathogenic
CRB1
Single nucleotide variant
(synonymous variant +2 more)
Retinitis pigmentosa 12
+1 more
GLikely benign
CRB1
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 12
+1 more
GLikely benign
CRB1
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 12
+1 more
GLikely benign
CRB1
(C190* +1 more)
Single nucleotide variant
(nonsense +1 more)
Retinitis pigmentosa 12
+1 more
GPathogenic
CRB1
Single nucleotide variant
(synonymous variant +1 more)
Retinitis pigmentosa 12
+1 more
GLikely benign
CRB1
Single nucleotide variant
(synonymous variant +1 more)
Retinitis pigmentosa 12
+1 more
GLikely benign
CRB1
(W654* +2 more)
Single nucleotide variant
(nonsense +2 more)
Retinitis pigmentosa 12
+1 more
GPathogenic
CRB1
Duplication
(nonsense +2 more)
Retinitis pigmentosa 12
+1 more
GPathogenic
CRB1
Single nucleotide variant
(synonymous variant +2 more)
Retinitis pigmentosa 12
+1 more
GLikely benign
CRB1
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 12
+1 more
GLikely benign
CRB1
(C1141* +2 more)
Single nucleotide variant
(nonsense +2 more)
Retinitis pigmentosa 12
+1 more
GPathogenic
CRB1
(I969fs +2 more)
Duplication
(frameshift variant +2 more)
Retinitis pigmentosa 12
+1 more
GPathogenic
CRB1
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 12
+1 more
GLikely benign
CRB1
Single nucleotide variant
(synonymous variant +1 more)
Retinitis pigmentosa 12
+1 more
GLikely benign
CRB1
Single nucleotide variant
(synonymous variant +2 more)
Retinitis pigmentosa 12
+1 more
GLikely benign
CRB1
Single nucleotide variant
(synonymous variant +2 more)
Retinitis pigmentosa 12
+1 more
GLikely benign
CRB1
Single nucleotide variant
(synonymous variant +2 more)
Retinitis pigmentosa 12
+1 more
GLikely benign
CRB1
(F736fs +2 more)
Deletion
(frameshift variant +2 more)
Retinitis pigmentosa 12
+1 more
GPathogenic
CRB1
Single nucleotide variant
(synonymous variant +1 more)
Retinitis pigmentosa 12
+1 more
GLikely benign
CRB1
Single nucleotide variant
(synonymous variant +2 more)
Retinitis pigmentosa 12
+1 more
GLikely benign
CRB1
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 12
+1 more
GLikely benign
CRB1
Single nucleotide variant
(synonymous variant +1 more)
Retinitis pigmentosa 12
+1 more
GLikely benign
CRB1
Single nucleotide variant
(synonymous variant +1 more)
Retinitis pigmentosa 12
+1 more
GLikely benign
CRB1
Single nucleotide variant
(synonymous variant +2 more)
Retinitis pigmentosa 12
+1 more
GLikely benign
CRB1
Single nucleotide variant
(synonymous variant +2 more)
Retinitis pigmentosa 12
+1 more
GLikely benign
CRB1
Single nucleotide variant
(synonymous variant +1 more)
Retinitis pigmentosa 12
+1 more
GLikely benign
CRB1
(P1281R +3 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 12
+1 more
GLikely pathogenic
CRB1
Single nucleotide variant
(synonymous variant +2 more)
Retinitis pigmentosa 12
+1 more
GLikely benign
CRB1
Single nucleotide variant
(synonymous variant +2 more)
Retinitis pigmentosa 12
+1 more
GLikely benign
CRB1
(E794* +2 more)
Single nucleotide variant
(nonsense +2 more)
Retinitis pigmentosa 12
+1 more
GPathogenic
CRB1
Single nucleotide variant
(synonymous variant +2 more)
Retinitis pigmentosa 12
+1 more
GLikely benign
CRB1
(A138D +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 12
+1 more
GUncertain significance
CRB1
Single nucleotide variant
(synonymous variant +1 more)
Retinitis pigmentosa 12
+1 more
GLikely benign
CRB1
Single nucleotide variant
(synonymous variant +2 more)
Retinitis pigmentosa 12
+1 more
GLikely benign
CRB1
Single nucleotide variant
(synonymous variant +1 more)
Retinitis pigmentosa 12
+1 more
GLikely benign
CRB1
Single nucleotide variant
(synonymous variant +1 more)
Retinitis pigmentosa 12
+1 more
GLikely benign
CRB1
Single nucleotide variant
(synonymous variant +1 more)
Retinitis pigmentosa 12
+1 more
GLikely benign
CRB1
(L1142fs +3 more)
Deletion
(frameshift variant +1 more)
Retinitis pigmentosa 12
+1 more
GPathogenic
CRB1
(E1280fs +3 more)
Deletion
(frameshift variant +1 more)
Retinitis pigmentosa 12
+1 more
GPathogenic
CRB1
Single nucleotide variant
(synonymous variant +2 more)
Retinitis pigmentosa 12
+1 more
GLikely benign
CRB1
(Q679P +2 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 12
+1 more
GUncertain significance
CRB1
Single nucleotide variant
(synonymous variant +1 more)
Retinitis pigmentosa 12
+1 more
GLikely benign
CRB1
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 12
+1 more
GLikely benign
CRB1
Single nucleotide variant
(synonymous variant +1 more)
Retinitis pigmentosa 12
+1 more
GLikely benign
CRB1
Single nucleotide variant
(synonymous variant +2 more)
Retinitis pigmentosa 12
+1 more
GLikely benign
CRB1
Single nucleotide variant
(synonymous variant +2 more)
Retinitis pigmentosa 12
+1 more
GLikely benign
CRB1
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 12
+1 more
GLikely benign
CRB1
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 12
+1 more
GLikely benign
CRB1
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 12
+1 more
GLikely benign
CRB1
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 12
+1 more
GLikely benign
CRB1
Deletion
(intron variant)
Retinitis pigmentosa 12
+1 more
GLikely benign
CRB1
Single nucleotide variant
(synonymous variant +1 more)
Retinitis pigmentosa 12
+1 more
GLikely benign
CRB1
Single nucleotide variant
(synonymous variant +2 more)
Retinitis pigmentosa 12
+1 more
GLikely benign
CRB1
Single nucleotide variant
(synonymous variant +2 more)
Retinitis pigmentosa 12
+1 more
GLikely benign
CRB1
Microsatellite
(intron variant)
Retinitis pigmentosa 12
+1 more
GLikely benign
CRB1
(M1020fs +2 more)
Duplication
(frameshift variant +2 more)
Retinitis pigmentosa 12
+1 more
GPathogenic
CRB1
Single nucleotide variant
(synonymous variant +2 more)
Retinitis pigmentosa 12
+1 more
GLikely benign
CRB1
Single nucleotide variant
(synonymous variant +1 more)
Retinitis pigmentosa 12
+1 more
GLikely benign
CRB1
Single nucleotide variant
(synonymous variant +1 more)
Retinitis pigmentosa 12
+1 more
GLikely benign
CRB1
Single nucleotide variant
(intron variant +1 more)
Retinitis pigmentosa 12
+1 more
GPathogenic
CRB1
Single nucleotide variant
(synonymous variant +2 more)
Retinitis pigmentosa 12
+1 more
GLikely benign
CRB1
Single nucleotide variant
(synonymous variant +2 more)
Retinitis pigmentosa 12
+1 more
GLikely benign
CRB1
Single nucleotide variant
(synonymous variant +1 more)
Retinitis pigmentosa 12
+1 more
GLikely benign
CRB1
(C1072* +2 more)
Single nucleotide variant
(nonsense +2 more)
Retinitis pigmentosa 12
+1 more
GPathogenic
CRB1
Single nucleotide variant
(synonymous variant +1 more)
Retinitis pigmentosa 12
+1 more
GLikely benign
CRB1
Single nucleotide variant
(synonymous variant +2 more)
Retinitis pigmentosa 12
+1 more
GLikely benign
CRB1
Single nucleotide variant
(synonymous variant +1 more)
Retinitis pigmentosa 12
+1 more
GLikely benign
CRB1
Single nucleotide variant
(synonymous variant +1 more)
Retinitis pigmentosa 12
+1 more
GLikely benign
CRB1
(C784F +2 more)
Single nucleotide variant
(missense variant +2 more)
Retinitis pigmentosa 12
+1 more
GLikely pathogenic
CRB1
Single nucleotide variant
(synonymous variant +2 more)
Retinitis pigmentosa 12
+1 more
GLikely benign
CRB1
(E1276* +3 more)
Single nucleotide variant
(nonsense +1 more)
Retinitis pigmentosa 12
+1 more
GPathogenic
CRB1
(R787K +2 more)
Single nucleotide variant
(missense variant +2 more)
Retinitis pigmentosa 12
+1 more
GUncertain significance
CRB1
Single nucleotide variant
(synonymous variant +2 more)
Retinitis pigmentosa 12
+1 more
GLikely benign
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