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Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130063608, LOC130063609
+484 more
Copy number gain
See cases
GPathogenic
ACP5, ANGPTL8
+434 more
Copy number loss
See cases
GPathogenic
ABHD8, ACP5
+2135 more
Copy number gain
See cases
GPathogenic
LOC112543445, LOC112543446
+355 more
Copy number loss
See cases
GPathogenic
LOC129391074, LOC130063625
+351 more
Copy number gain
See cases
GPathogenic
ADGRE2, ADGRE3
+318 more
Copy number loss
See cases
GPathogenic
ADGRE2, ADGRE3
+180 more
Copy number loss
See cases
GPathogenic
ADGRL1, ADGRL1-AS1
+87 more
Copy number loss
See cases
GUncertain significance
BEST2, BRME1
+45 more
Copy number loss
not provided
GPathogenic
PGLYRP1, PGLYRP2
+1364 more
Copy number gain
See cases
GPathogenic
TMC4, TMED1
+1364 more
Copy number gain
See cases
GPathogenic
ACP5, ADGRE5
+82 more
Copy number gain
See cases
GUncertain significance
ADGRE5, ADGRL1
+64 more
Copy number loss
See cases
GPathogenic
ADGRE5, ADGRL1
+30 more
Copy number loss
See cases
GLikely pathogenic
ADGRL1, ANGPTL6
+153 more
Copy number gain
See cases
GPathogenic
MIR24-2, C19orf53
+8 more
Copy number gain
See cases
GUncertain significance
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