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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ERCC6
Single nucleotide variant
(intron variant)
Cockayne syndrome
+2 more
GPathogenic/Likely pathogenic
ERCC6, LOC130003806
Single nucleotide variant
(intron variant)
Cockayne syndrome type 2
GLikely pathogenic