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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ILRUN-AS1, IP6K3
+2582 more
Copy number gain
See cases
GPathogenic
B3GALT4, COL11A2
+26 more
Duplication
Intellectual disability, autosomal dominant 5
GUncertain significance
B3GALT4, COL11A2
+17 more
Duplication
MHC class I deficiency
GUncertain significance
ARMC12, BRPF3
+94 more
Duplication
not provided
GUncertain significance
ABHD16A, AGER
+172 more
Duplication
Proteasome-associated autoinflammatory syndrome 1
GUncertain significance
B3GALT4, BAK1
+23 more
Copy number gain
not specified
GUncertain significance
B3GALT4, COL11A2
+17 more
Duplication
Intellectual disability, autosomal dominant 5
GUncertain significance
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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