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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCA4
Deletion
(nonsense +1 more)
ABCA4-Related Disorders
+5 more
GPathogenic
ABCA4
(G1961E +1 more)
Single nucleotide variant
(missense variant)
Macular dystrophy
+13 more
GPathogenic/Likely pathogenic/Pathogenic, low penetrance
ABCA4
(C1490Y +1 more)
Single nucleotide variant
(missense variant)
ABCA4-Related Disorders
+5 more
GPathogenic
ABCA4
(A1038V +1 more)
Single nucleotide variant
(missense variant)
ABCA4-Related Disorders
+10 more
GPathogenic/Likely pathogenic
ABCA4
Single nucleotide variant
(splice donor variant)
not provided
+3 more
GPathogenic
ABCA4
(L541P)
Single nucleotide variant
(missense variant)
Macular dystrophy
+7 more
GPathogenic/Likely pathogenic
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