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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IFT172, LOC126806173
(R1284*)
Single nucleotide variant
(nonsense)
Retinal dystrophy
+2 more
GPathogenic/Likely pathogenic
IFT172, LOC126806173
(L1260V)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+3 more
GUncertain significance