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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MAB21L1, NBEA
(C246fs)
Duplication
(frameshift variant +1 more)
Hypoplasia of scrotum
GLikely pathogenic
NBEA
(W2753* +3 more)
Single nucleotide variant
(nonsense)
Intellectual disability
GLikely pathogenic