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Items: 22

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP8A2, ATXN8OS
+2049 more
Copy number loss
See cases
GPathogenic
LOC130009892, LOC130009893
+2050 more
Copy number gain
See cases
GPathogenic
LOC130009819, LOC130009820
+2048 more
Copy number gain
See cases
GPathogenic
LOC130009419, LOC130009420
+567 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2045 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2046 more
Copy number gain
See cases
GPathogenic
CRYL1, EEF1AKMT1
+116 more
Copy number gain
See cases
GPathogenic
LOC126861730, LOC126861731
+489 more
Copy number gain
See cases
GPathogenic
LOC130009309, LOC130009310
+2041 more
Copy number gain
See cases
GPathogenic
LOC130009490, LOC130009491
+416 more
Copy number gain
See cases
GPathogenic
ATP12A, C1QTNF9
+181 more
Copy number loss
See cases
GPathogenic
LOC130009607, LOC130009608
+2029 more
Copy number gain
See cases
GPathogenic
LOC132090185, LOC132090186
+621 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2025 more
Copy number gain
See cases
GPathogenic
LOC130009383, LOC130009384
+2022 more
Copy number gain
See cases
GPathogenic
LOC126861859, LOC126861860
+2025 more
Copy number gain
See cases
GPathogenic
CRYL1, EEF1AKMT1
+84 more
Copy number loss
See cases
GUncertain significance
LOC112163664, LOC112163665
+2025 more
Copy number gain
See cases
GPathogenic
CRYL1, EEF1AKMT1
+79 more
Copy number loss
See cases
GPathogenic
SAP18, SKA3
+75 more
Copy number loss
See cases
GPathogenic
CRYL1, EEF1AKMT1
+46 more
Copy number loss
See cases
GUncertain significance
FGF9, LINC00424
+37 more
Copy number gain
See cases
GUncertain significance
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