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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MPZL2
(I24fs)
Deletion
(frameshift variant)
Hearing loss, autosomal recessive
+2 more
GPathogenic/Likely pathogenic
BACE1, BACE1-AS
+176 more
Copy number gain
not provided
GPathogenic
ARHGAP32, ARHGEF12
+177 more
Copy number gain
not provided
GPathogenic
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