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Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADTRP, ATXN1
+825 more
Copy number gain
See cases
GPathogenic
LOC129995681, LOC129995682
+643 more
Copy number gain
See cases
GPathogenic
ADTRP, ATXN1
+779 more
Copy number gain
See cases
GPathogenic
ADTRP, BLOC1S5
+612 more
Copy number loss
See cases
GPathogenic
LOC129995778, LOC129995779
+559 more
Copy number gain
See cases
GLikely pathogenic
ILRUN-AS1, IP6K3
+2582 more
Copy number gain
See cases
GPathogenic
SLC35B3, SMIM13
+510 more
Copy number gain
See cases
GLikely pathogenic
LOC129995802, LOC129995803
+573 more
Copy number gain
See cases
GPathogenic
ADTRP, BLOC1S5
+537 more
Copy number gain
See cases
GPathogenic
ADTRP, ATXN1
+617 more
Copy number loss
See cases
GPathogenic
ABCF1, ABT1
+1340 more
Copy number gain
See cases
GPathogenic
LOC129995677, LOC129995678
+331 more
Copy number loss
See cases
GPathogenic
ADTRP, C6orf52
+154 more
Copy number loss
See cases
GPathogenic
ADTRP, EDN1
+47 more
Duplication
not specified
GUncertain significance
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