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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SYN3, TIMP3
(G12R)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
SYN3, TIMP3
(S38C)
Single nucleotide variant
(missense variant +1 more)
Retinal dystrophy
+1 more
GPathogenic/Likely pathogenic
SYN3, TIMP3
(R43Q)
Single nucleotide variant
(missense variant +1 more)
Retinal dystrophy
GUncertain significance
SYN3, TIMP3
(C192*)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GUncertain significance
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