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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCAF4
(Y542fs +1 more)
Duplication
(frameshift variant)
Fliedner-Zweier syndrome
GPathogenic
SCAF4
(E42* +1 more)
Single nucleotide variant
(nonsense)
Fliedner-Zweier syndrome
GLikely pathogenic