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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EYS, PHF3
(V3134fs +1 more)
Deletion
(3 prime UTR variant +1 more)
not provided
GPathogenic/Likely pathogenic
EYS, PHF3
(V3116del +1 more)
Microsatellite
(3 prime UTR variant +1 more)
Retinitis Pigmentosa, Recessive
+3 more
GConflicting classifications of pathogenicity
EYS, PHF3
(V3117fs +1 more)
Deletion
(3 prime UTR variant +1 more)
Retinitis pigmentosa 25
+3 more
GPathogenic/Likely pathogenic
EYS, PHF3
(N3062fs +1 more)
Deletion
(3 prime UTR variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
EYS, PHF3
(W3044R +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
EYS, PHF3
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+2 more
GBenign/Likely benign
EYS, PHF3
(D2930G +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+3 more
GUncertain significance
EYS, PHF3
(T2810I +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
EYS, PHF3
(A2808T +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
+4 more
GConflicting classifications of pathogenicity
EYS, PHF3
(N2803fs +1 more)
Duplication
(3 prime UTR variant +1 more)
Retinal dystrophy
+2 more
GPathogenic
EYS, PHF3
(T2772fs +1 more)
Deletion
(3 prime UTR variant +1 more)
not provided
GPathogenic
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