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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ILRUN-AS1, IP6K3
+2582 more
Copy number gain
See cases
GPathogenic
LOC129996415, LOC129996416
+435 more
Copy number loss
See cases
GPathogenic
LOC132089395, LOC132089396
+324 more
Copy number loss
See cases
GPathogenic
AARS2, ABCC10
+221 more
Copy number loss
See cases
GPathogenic
AARS2, CAPN11
+85 more
Copy number gain
See cases
GLikely benign
ABCC10, BICRAL
+43 more
Deletion
not provided
GUncertain significance
CAPN11, GTPBP2
+8 more
Copy number gain
not provided
GUncertain significance
PAQR8, PGK2
+92 more
Copy number gain
not provided
GLikely pathogenic
ADGRF5, ANKRD66
+50 more
Copy number loss
not specified
GPathogenic
ERVH-3, ETV7
+427 more
Copy number gain
not provided
GPathogenic
AARS2, ABCC10
+1028 more
Copy number gain
See cases
GPathogenic
RING1, RIOK1
+1028 more
Copy number gain
See cases
GPathogenic
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