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Items: 24

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCA1, ADGRD2
+3786 more
Copy number gain
See cases
GPathogenic
LOC129390066, LOC129390067
+3785 more
Copy number gain
See cases
GPathogenic
LOC126860762, LOC126860763
+3786 more
Copy number gain
See cases
GPathogenic
LOC124292579, LOC124292580
+3786 more
Copy number gain
See cases
GPathogenic
DENND4C, DIPK1B
+3786 more
Copy number gain
See cases
GPathogenic
ABCA2, ACER2
+3786 more
Copy number gain
See cases
GPathogenic
LOC130001660, LOC130001661
+3786 more
Copy number gain
See cases
GPathogenic
LOC126860587, LOC126860588
+3786 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+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
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