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Items: 19

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
LINC00473, LINC00602
+25 more
Copy number gain
See cases
GUncertain significance
LINC00473, LINC00602
+29 more
Copy number gain
See cases
GUncertain significance
LINC00473, PDE10A
Single nucleotide variant
(genic upstream transcript variant)
not provided
GUncertain significance
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