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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ERCC3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ERCC3
Single nucleotide variant
(synonymous variant)
ERCC3-related disorder
+2 more
GConflicting classifications of pathogenicity
ERCC3
(R109* +1 more)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic/Likely pathogenic
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