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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RECQL4
(R902W)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
RECQL4
(S862L)
Single nucleotide variant
(missense variant)
Baller-Gerold syndrome
+1 more
GUncertain significance