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Items: 29

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FBXO5, FNDC1
+865 more
Copy number gain
See cases
GPathogenic
ACAT2, AFDN
+571 more
Copy number gain
See cases
GPathogenic
ACAT2, AFDN
+563 more
Copy number loss
See cases
GPathogenic
LOC129997707, LOC129997708
+548 more
Copy number loss
See cases
GPathogenic
ACAT2, AFDN
+539 more
Copy number loss
See cases
GPathogenic
ACAT2, AFDN
+339 more
Copy number loss
See cases
GPathogenic
C6orf118, C6orf120
+321 more
Copy number loss
See cases
GPathogenic
AFDN, AFDN-DT
+322 more
Copy number loss
See cases
GPathogenic
AFDN, AFDN-DT
+299 more
Copy number loss
See cases
GPathogenic
AFDN, AFDN-DT
+297 more
Copy number loss
See cases
GPathogenic
AFDN, AFDN-DT
+277 more
Copy number loss
See cases
GPathogenic
AFDN, AFDN-DT
+254 more
Copy number loss
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
GPathogenic
AFDN, AFDN-DT
+247 more
Copy number loss
See cases
GPathogenic
AFDN, AFDN-DT
+243 more
Copy number loss
See cases
GPathogenic
AFDN, AFDN-DT
+224 more
Copy number loss
See cases
GPathogenic
AFDN, AFDN-DT
+203 more
Copy number loss
See cases
GPathogenic
AFDN, AFDN-DT
+168 more
Copy number loss
See cases
GPathogenic
AFDN, AFDN-DT
+112 more
Copy number loss
See cases
GPathogenic
AFDN, AFDN-DT
+87 more
Copy number loss
See cases
GPathogenic
AFDN, C6orf120
+78 more
Copy number loss
See cases
GPathogenic
PHF10, PSMB1
+77 more
Copy number loss
See cases
GPathogenic
AFDN, C6orf120
+77 more
Copy number loss
See cases
GPathogenic
C6orf120, DACT2
+68 more
Copy number loss
See cases
GPathogenic
C6orf120, DLL1
+60 more
Copy number loss
See cases
GPathogenic
C6orf120, DLL1
+60 more
Copy number loss
See cases
GPathogenic
C6orf120, DLL1
+57 more
Copy number loss
See cases
GLikely pathogenic
LINC01615, LINC02519
+15 more
Copy number gain
See cases
GLikely benign
C6orf120, DLL1
+56 more
Copy number loss
See cases
GPathogenic
C6orf120, DLL1
+54 more
Copy number loss
See cases
GPathogenic
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