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Items: 1 to 100 of 191

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC105378448, LOC107195252
+245 more
Copy number loss
See cases
GPathogenic
ACSM6, CEP55
+105 more
Copy number loss
See cases
GPathogenic
LOC130004555, LOC130004556
+375 more
Copy number loss
See cases
GPathogenic
RBP4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RBP4
(D191N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RBP4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RBP4
Single nucleotide variant
(splice acceptor variant)
Microphthalmia, isolated, with coloboma 10
GLikely pathogenic
RBP4
Duplication
(intron variant)
not provided
GLikely benign
RBP4
Single nucleotide variant
(intron variant)
not provided
GBenign
RBP4
Single nucleotide variant
(intron variant)
not provided
GBenign
RBP4
Single nucleotide variant
(intron variant)
not provided
GBenign
RBP4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RBP4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RBP4
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
RBP4
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
RBP4
(G188S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RBP4
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
RBP4
(N187S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RBP4
(H186R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RBP4
(V185I +1 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
RBP4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RBP4
(Q182K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
RBP4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RBP4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RBP4
(E176D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RBP4
(E174* +1 more)
Single nucleotide variant
(nonsense)
Progressive retinal dystrophy due to retinol transport defect
GPathogenic
RBP4
(E173K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RBP4
(R173Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RBP4
(R171W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RBP4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RBP4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RBP4
(I167V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
RBP4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RBP4
(A164V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RBP4
(P163S +1 more)
Indel
(missense variant)
not provided
GUncertain significance
RBP4
(P161S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RBP4
(G161S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RBP4
(G159C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RBP4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RBP4
(D156Y +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
RBP4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RBP4
(R155Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RBP4
(S154F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RBP4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RBP4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RBP4
(C145W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RBP4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RBP4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RBP4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RBP4
(V132L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RBP4
(V132M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
RBP4
(V132L +1 more)
Indel
(missense variant)
not provided
GUncertain significance
RBP4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RBP4
(Y132N +1 more)
Single nucleotide variant
(missense variant)
Unilateral microphthalmos
GLikely pathogenic
RBP4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RBP4
(T129M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RBP4
(T131K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RBP4
(D128N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RBP4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RBP4
(D126G +1 more)
Single nucleotide variant
(missense variant)
Anterior segment dysgenesis
GLikely pathogenic
RBP4
Single nucleotide variant
(synonymous variant)
not provided
GBenign
RBP4
(D124N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RBP4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RBP4
(V123I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RBP4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RBP4
(W121C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RBP4
(D118H +1 more)
Single nucleotide variant
(missense variant)
Congenital ocular coloboma
GLikely pathogenic
RBP4
(D118Y +1 more)
Single nucleotide variant
(missense variant)
Bilateral microphthalmos
GLikely pathogenic
RBP4
Single nucleotide variant
(intron variant)
Microphthalmia, isolated, with coloboma 10
+2 more
GBenign
RBP4
Single nucleotide variant
(intron variant)
not provided
GBenign
RBP4
Single nucleotide variant
(intron variant)
not provided
GBenign
RBP4
Single nucleotide variant
(intron variant)
Progressive retinal dystrophy due to retinol transport defect
+1 more
GBenign
RBP4
Single nucleotide variant
(intron variant)
not provided
GBenign
RBP4
Single nucleotide variant
(intron variant)
not provided
GBenign
RBP4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RBP4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RBP4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RBP4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RBP4
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
RBP4
(G118E +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
RBP4
Deletion
(nonsense)
not provided
GPathogenic
RBP4
(Q116H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RBP4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RBP4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RBP4
(V111I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RBP4
(Y108C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RBP4
(M104L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RBP4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RBP4
(P99L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RBP4
(P101H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RBP4
(P101T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RBP4
(E97K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RBP4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RBP4
(T98N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RBP4
(G93V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FFAR4, RBP4
(G93D +1 more)
Single nucleotide variant
(missense variant)
Progressive retinal dystrophy due to retinol transport defect
GLikely pathogenic
RBP4
(G91S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RBP4
(M89V +1 more)
Single nucleotide variant
(missense variant)
Microphthalmia
GLikely pathogenic
RBP4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RBP4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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