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Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADGRV1, ALDH7A1
+682 more
Copy number loss
See cases
GPathogenic
ADAMTS19, ADAMTS19-AS1
+688 more
Copy number loss
See cases
GPathogenic
EPB41L4A-AS1, EPB41L4A-DT
+495 more
Copy number loss
See cases
GPathogenic
APC, ARB2A
+342 more
Copy number loss
See cases
GPathogenic
TSSK1B, WDR36
+275 more
Copy number gain
See cases
GPathogenic
LOC126807477, LOC126807478
+180 more
Copy number loss
See cases
GPathogenic
LOC285638, MAN2A1
+134 more
Copy number loss
See cases
GPathogenic
ABLIM3, ACSL6
+1672 more
Copy number loss
See cases
GPathogenic
LOC129994315, LOC129994316
+230 more
Copy number loss
See cases
GPathogenic
AP3S1, APC
+340 more
Copy number loss
See cases
GPathogenic
AP3S1, APC
+186 more
Copy number loss
See cases
GPathogenic
ADAMTS19, ADAMTS19-AS1
+377 more
Copy number loss
See cases
GPathogenic
ALDH7A1, AP3S1
+317 more
Copy number loss
See cases
GPathogenic
AP3S1, APC
+119 more
Copy number loss
See cases
GPathogenic
LOC123497954, LOC129994371
+3 more
Deletion
Familial adenomatous polyposis 1
GLikely pathogenic
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