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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC132089226, LOC132089227
+1167 more
Copy number gain
See cases
GPathogenic
FAM153A, FAM153B
+176 more
Copy number gain
See cases
GPathogenic
ADAMTS2, ARL10
+292 more
Copy number gain
See cases
GPathogenic
LOC129995374, LOC129995375
+136 more
Copy number loss
See cases
GPathogenic
ARL10, B4GALT7
+134 more
Copy number loss
See cases
GPathogenic
ARL10, B4GALT7
+140 more
Copy number loss
See cases
GPathogenic
UIMC1
(P269L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
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