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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ERCC6
(R1288*)
Single nucleotide variant
(nonsense)
Cockayne syndrome type 2
+4 more
GPathogenic
ERCC6
(S687L)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity