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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACAD10, ACADS
+4836 more
Copy number gain
See cases
GPathogenic
LOC130008692, LOC130008693
+316 more
Copy number loss
See cases
GPathogenic
ARPC3
Duplication
(intron variant)
not provided
GBenign
ARPC3
Duplication
(intron variant)
not provided
GBenign
ABTB3, ACACB
+74 more
Copy number loss
not specified
GLikely pathogenic
ABTB3, ACACB
+73 more
Copy number loss
not provided
GPathogenic
ABTB3, ACACB
+60 more
Copy number loss
not provided
GPathogenic
SLC15A5, SLC16A7
+1006 more
Copy number gain
See cases
GPathogenic
A2M, A2ML1
+1006 more
Copy number gain
See cases
GPathogenic
GALNT8, H2AJ
+1007 more
Copy number gain
See cases
GPathogenic
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