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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TSPAN12
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
TSPAN12
(Q154fs)
Deletion
(frameshift variant)
Retinal dystrophy
+1 more
GPathogenic/Likely pathogenic