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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
VPS13B
(W1328*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
VPS13B
(P3944fs +1 more)
Indel
(frameshift variant)
Cohen syndrome
+1 more
GLikely pathogenic