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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IMPG1
(L548F +1 more)
Single nucleotide variant
(missense variant)
Benign concentric annular macular dystrophy
+2 more
GConflicting classifications of pathogenicity
IMPG1
(L613P +1 more)
Single nucleotide variant
(missense variant)
Benign concentric annular macular dystrophy
+1 more
GUncertain significance
IMPG1
(L501P +1 more)
Single nucleotide variant
(missense variant)
Benign concentric annular macular dystrophy
+1 more
GConflicting classifications of pathogenicity
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