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Items: 34

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
APBA2, ARHGAP11A
+264 more
Copy number gain
See cases
GPathogenic
SNORD115-26, SNORD115-27
+201 more
Copy number gain
See cases
GPathogenic
APBA2, ATP10A
+203 more
Copy number gain
See cases
GPathogenic
ATP10A, ATP10A-DT
+188 more
Copy number gain
See cases
GPathogenic
ATP10A, ATP10A-DT
+192 more
Copy number gain
See cases
GPathogenic
APBA2, ARHGAP11B
+254 more
Copy number gain
See cases
GPathogenic
APBA2, ATP10A
+219 more
Copy number gain
See cases
GPathogenic
ATP10A, ATP10A-DT
+195 more
Copy number gain
See cases
GPathogenic
FAM30C, GOLGA6L6
+23 more
Copy number loss
See cases
GBenign
FAM30C, GOLGA6L6
+23 more
Copy number gain
See cases
GBenign
FAM30C, GOLGA6L6
+23 more
Copy number gain
See cases
GBenign
FAM30C, GOLGA6L6
+19 more
Copy number loss
See cases
GBenign
OR4M2B, OR4N4
+23 more
Copy number loss
See cases
GBenign
GOLGA6L6, FAM30C
+19 more
Copy number loss
See cases
GBenign
FAM30C, GOLGA6L6
+23 more
Copy number loss
See cases
GBenign
FAM30C, GOLGA6L6
+23 more
Copy number gain
See cases
GBenign
FAM30C, GOLGA6L6
+23 more
Copy number loss
See cases
GBenign
FAM30C, GOLGA6L6
+16 more
Copy number loss
See cases
GBenign
FAM30C, GOLGA6L6
+16 more
Copy number loss
See cases
GBenign
FAM30C, GOLGA6L6
+15 more
Copy number loss
See cases
GBenign
FAM30C, GOLGA6L6
+23 more
Copy number loss
See cases
GBenign
APBA2, ATP10A
+218 more
Copy number gain
See cases
GPathogenic
FAM30C, LINC01193
+22 more
Copy number gain
See cases
GLikely benign
FAM30C, LINC01193
+12 more
Copy number gain
See cases
GBenign
FAM30C, LINC01193
+19 more
Copy number loss
See cases
GBenign
FAM30C, LINC01193
+19 more
Copy number loss
See cases
GBenign
FAM30C, LINC01193
+19 more
Copy number loss
See cases
GBenign
ATP10A, ATP10A-DT
+163 more
Copy number loss
Angelman syndrome
GPathogenic
FAM30C, LINC02203
+17 more
Copy number gain
See cases
GBenign
ATP10A, ATP10A-DT
+182 more
Copy number gain
See cases
GPathogenic
LINC02203, LOC102724971
+13 more
Copy number gain
See cases
GBenign
LINC02203, LOC102724971
+13 more
Copy number loss
See cases
GBenign
LINC02203, LOC102724971
+13 more
Copy number gain
See cases
GBenign
LINC02203, LOC102724971
+13 more
Copy number loss
See cases
GBenign
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