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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126862060, LOC126862061
+3282 more
Copy number gain
See cases
GPathogenic
LOC125048449, LOC125048450
+3277 more
Copy number gain
See cases
GPathogenic
SAMD15, SEL1L
+503 more
Copy number loss
See cases
GPathogenic
LOC130056651, LOC130056652
+1423 more
Copy number gain
See cases
GPathogenic
ADCK1, ADSS1
+1204 more
Copy number gain
See cases
GPathogenic
CEP128, DIO2
+58 more
Copy number gain
See cases
GLikely pathogenic
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