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Items: 6

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
MYMX
(R46*)
Single nucleotide variant
(nonsense)
Carey-Fineman-Ziter syndrome 2
GPathogenic
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