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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCA4
(L1970F +1 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+4 more
GConflicting classifications of pathogenicity
ABCA4
(P1780A +1 more)
Single nucleotide variant
(missense variant)
Severe early-childhood-onset retinal dystrophy
+4 more
GConflicting classifications of pathogenicity
ABCA4
(L1769M +1 more)
Single nucleotide variant
(missense variant)
Age related macular degeneration 2
GUncertain significance
ABCA4
(E471K)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
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