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Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC124210612, LOC124210613
+3786 more
Copy number gain
See cases
GPathogenic
LOC121331326, LOC121331327
+3785 more
Copy number gain
See cases
GPathogenic
LOC126860737, LOC126860738
+3786 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3786 more
Copy number gain
See cases
GPathogenic
LOC110121197, LOC110121234
+3786 more
Copy number gain
See cases
GPathogenic
LOC121331342, LOC121331343
+3786 more
Copy number gain
See cases
GPathogenic
LOC113839542, LOC113839543
+3786 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3786 more
Copy number gain
See cases
GPathogenic
LOC130002189, LOC130002190
+3786 more
Copy number gain
See cases
GPathogenic
ABCA2, ABL1
+1272 more
Copy number gain
See cases
GPathogenic
ABCA2, ABL1
+1268 more
Copy number gain
See cases
GPathogenic
LOC130003132, LOC130003133
+1210 more
Copy number gain
See cases
GPathogenic
MED27, MIGA2
+789 more
Copy number gain
See cases
GPathogenic
ABL1, ABO
+536 more
Copy number gain
See cases
GPathogenic
LOC130003057, LOC130003058
+656 more
Copy number gain
See cases
GPathogenic
LOC124375238, LOC124375239
+569 more
Copy number loss
Kleefstra syndrome 1
GPathogenic
GBGT1, GLT6D1
+552 more
Copy number loss
Kleefstra syndrome 1
GPathogenic
ABCA2, ABO
+572 more
Copy number loss
Kleefstra syndrome 1
GPathogenic
LOC130002921, LOC130002922
+572 more
Copy number loss
Kleefstra syndrome 1
GPathogenic
LOC121366034, LOC121366035
+572 more
Copy number loss
Kleefstra syndrome 1
GPathogenic
SARDH, SEC16A
+568 more
Copy number loss
Kleefstra syndrome 1
GPathogenic
ABCA2, ABO
+572 more
Copy number loss
Kleefstra syndrome 1
GPathogenic
LOC130003026, LOC130003027
+530 more
Copy number gain
See cases
GPathogenic
ABCA2, ABO
+510 more
Copy number gain
See cases
GPathogenic
LOC129390118, LOC130002920
+439 more
Copy number gain
See cases
GPathogenic
INPP5E, KCNT1
+417 more
Copy number gain
See cases
GPathogenic
LOC130003077, LOC130003078
+405 more
Copy number gain
See cases
GPathogenic
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