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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CCDC146, CCDC201
+4735 more
Copy number loss
See cases
GPathogenic
LOC129998995, LOC129998996
+2212 more
Copy number gain
See cases
GPathogenic
AASS, ANKRD7
+253 more
Copy number loss
See cases
GPathogenic
LOC129999548, LOC129999549
+1547 more
Copy number gain
See cases
GPathogenic
AASS, AHCYL2
+492 more
Copy number loss
See cases
GPathogenic
CADPS2, CALD1
+1380 more
Copy number gain
See cases
GPathogenic
AASS, ARF5
+163 more
Copy number loss
See cases
GPathogenic
LOC129999230, LOC129999231
+60 more
Copy number loss
See cases
GLikely pathogenic
LOC129999315, LOC129999316
+342 more
Copy number loss
See cases
GPathogenic
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