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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ERCC2
(R722W)
Single nucleotide variant
(missense variant)
not provided
+6 more
GPathogenic
ERCC2
(Q698*)
Single nucleotide variant
(nonsense)
Cerebrooculofacioskeletal syndrome 2
GLikely pathogenic