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Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC115995524, LOC115995525
+2647 more
Copy number gain
See cases
GPathogenic
LOC123453201, LOC123453202
+1450 more
Copy number gain
See cases
GPathogenic
LOC129938169, LOC129938170
+1318 more
Copy number gain
See cases
GPathogenic
LOC108281160, LOC108281177
+1247 more
Copy number gain
See cases
GPathogenic
ABCC5, ABCC5-AS1
+1245 more
Copy number gain
See cases
GPathogenic
LOC132088897, LOC132088898
+1201 more
Copy number gain
See cases
GPathogenic
LOC129938260, LOC129938261
+1064 more
Copy number gain
See cases
GPathogenic
LOC129938077, LOC129938078
+1041 more
Copy number gain
See cases
GPathogenic
ZMAT3, ZNF639
+867 more
Copy number gain
See cases
GPathogenic
LOC129938282, LOC129938283
+866 more
Copy number gain
See cases
GPathogenic
ABCC5, ABCC5-AS1
+399 more
Copy number loss
See cases
GPathogenic
MIR944, MUC20
+557 more
Copy number loss
See cases
GPathogenic
ADIPOQ, ADIPOQ-AS1
+237 more
Copy number loss
See cases
GPathogenic
ATP13A4, ATP13A4-AS1
+180 more
Deletion
Schizophrenia
GLikely pathogenic
LOC132088908, LOC132088909
+97 more
Copy number loss
See cases
GLikely pathogenic
BCL6, BCL6-AS1
+70 more
Copy number loss
See cases
GPathogenic
ATP13A3, ATP13A3-DT
+226 more
Copy number loss
See cases
GPathogenic
LOC111162620, LOC111162621
+18 more
Copy number gain
See cases
GLikely benign
ACAP2, APOD
+411 more
Copy number gain
See cases
GPathogenic
LOC111162621, LOC129938147
+2 more
Duplication
Primary amenorrhea
GUncertain significance
LOC111162621, LOC129938147
+2 more
Duplication
Primary amenorrhea
GUncertain significance
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