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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TSPAN12
(C181F)
Single nucleotide variant
(missense variant)
Exudative vitreoretinopathy 5
+3 more
GPathogenic
ZNF408
(S384P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZNF408
(L566H +1 more)
Single nucleotide variant
(missense variant)
Familial exudative vitreoretinopathy
GPathogenic
FZD4, PRSS23
(C117R)
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial exudative vitreoretinopathy
GLikely pathogenic
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