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Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126860963, LOC126860964
+1008 more
Copy number gain
See cases
GPathogenic
ADIRF, ADIRF-AS1
+174 more
Copy number loss
See cases
GPathogenic
ADIRF, ADIRF-AS1
+178 more
Copy number loss
See cases
GPathogenic
ADIRF, ADIRF-AS1
+166 more
Copy number loss
See cases
GPathogenic
ADIRF, ADIRF-AS1
+178 more
Copy number loss
See cases
GPathogenic
ADIRF, ADIRF-AS1
+168 more
Copy number loss
See cases
GPathogenic
SHLD2, SNCG
+168 more
Copy number gain
See cases
GPathogenic
LOC132089876, LOC132090824
+163 more
Copy number loss
See cases
GPathogenic
LOC130004227, LOC130004228
+168 more
Copy number loss
See cases
GPathogenic
ADIRF, ADIRF-AS1
+175 more
Copy number loss
See cases
GPathogenic
ANXA11, BMPR1A
+150 more
Copy number loss
See cases
GPathogenic
ATAD1, ACTA2
+151 more
Copy number gain
See cases
GPathogenic
LOC111982877, LOC111982878
+61 more
Deletion
Generalized juvenile polyposis/juvenile polyposis coli
GPathogenic
ADIRF, ADIRF-AS1
+60 more
Deletion
Generalized juvenile polyposis/juvenile polyposis coli
GPathogenic
LOC130004268, LOC130004269
+57 more
Deletion
PTEN hamartoma tumor syndrome
GPathogenic
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