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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ERCC6, LOC126860933
(R975Q)
Single nucleotide variant
(missense variant)
COFS syndrome
+4 more
GConflicting classifications of pathogenicity
ERCC6, LOC126860933
(R947*)
Single nucleotide variant
(nonsense)
Cerebrooculofacioskeletal syndrome 1
+3 more
GPathogenic/Likely pathogenic
ERCC6, LOC126860933
(P934T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
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