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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ERCC6
(K997E)
Single nucleotide variant
(missense variant)
Age related macular degeneration 5
+7 more
GConflicting classifications of pathogenicity
ERCC6
(V709I)
Single nucleotide variant
(missense variant)
Cockayne syndrome type 2
+7 more
GConflicting classifications of pathogenicity