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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
C6orf47
(H233R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C6orf47
(T180I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABHD16A, APOM
+28 more
Deletion
not provided
GUncertain significance
ABHD16A, AGER
+172 more
Duplication
Proteasome-associated autoinflammatory syndrome 1
GUncertain significance
ABHD16A, AIF1
+63 more
Duplication
not provided
GUncertain significance
ABHD16A, AIF1
+40 more
Copy number gain
not specified
GUncertain significance
ABCF1, ABHD16A
+106 more
Deletion
Megacolon
GLikely pathogenic
ABHD16A, AGER
+117 more
Copy number gain
not provided
GLikely pathogenic
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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