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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RECQL4
(Q1114*)
Single nucleotide variant
(nonsense)
Baller-Gerold syndrome
GPathogenic/Likely pathogenic
RECQL4
(P965fs)
Deletion
(frameshift variant)
Baller-Gerold syndrome
GPathogenic/Likely pathogenic