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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ERCC8
Single nucleotide variant
(synonymous variant +1 more)
Cockayne syndrome type 1
GLikely pathogenic
ERCC8, NDUFAF2
(Y38*)
Single nucleotide variant
(nonsense)
Mitochondrial complex 1 deficiency, nuclear type 10
+3 more
GPathogenic