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Items: 52

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
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
ABCA2, AGPAT2
+392 more
Copy number gain
See cases
GPathogenic
ABCA2, AGPAT2
+388 more
Copy number loss
Kleefstra syndrome 1
GPathogenic
UAP1L1, UBAC1
+371 more
Copy number loss
See cases
GPathogenic
ABCA2, AGPAT2
+367 more
Copy number loss
Kleefstra syndrome 1
GPathogenic
LOC124375251, LOC126860788
+265 more
Copy number loss
See cases
GPathogenic
ABCA2, AGPAT2
+347 more
Copy number loss
Kleefstra syndrome 1
GPathogenic
UBAC1, ZMYND19
+346 more
Copy number loss
Kleefstra syndrome 1
GPathogenic
LOC130003123, LOC130003124
+345 more
Copy number loss
Kleefstra syndrome 1
GPathogenic
EHMT1, ENTPD2
+347 more
Copy number loss
Kleefstra syndrome 1
GPathogenic
ABCA2, AGPAT2
+344 more
Copy number loss
Kleefstra syndrome 1
GPathogenic
ABCA2, AGPAT2
+311 more
Copy number loss
See cases
GPathogenic
QSOX2, RABL6
+324 more
Copy number gain
See cases
GLikely pathogenic
ABCA2, AGPAT2
+325 more
Copy number loss
Kleefstra syndrome 1
GPathogenic
LOC130003073, LOC130003074
+310 more
Copy number loss
Kleefstra syndrome 1
GPathogenic
LOC126860801, LOC129390118
+309 more
Copy number loss
Kleefstra syndrome 1
GPathogenic
LOC130003044, LOC130003045
+309 more
Copy number loss
Kleefstra syndrome 1
GPathogenic
LOC130003070, LOC130003071
+283 more
Copy number loss
See cases
GPathogenic
ABCA2, AGPAT2
+284 more
Copy number loss
See cases
GPathogenic
ABCA2, AGPAT2
+283 more
Copy number loss
See cases
GPathogenic
ABCA2, AGPAT2
+227 more
Copy number loss
Kleefstra syndrome 1
GPathogenic
LOC130003043, LOC130003044
+199 more
Copy number loss
Kleefstra syndrome 1
GPathogenic
ABCA2, AJM1
+193 more
Copy number loss
Kleefstra syndrome 1
GPathogenic
ABCA2, AJM1
+193 more
Copy number loss
Kleefstra syndrome 1
GPathogenic
ABCA2, AJM1
+193 more
Copy number loss
Kleefstra syndrome 1
GPathogenic
ABCA2, ANAPC2
+176 more
Copy number loss
Kleefstra syndrome 1
GPathogenic
ABCA2, ANAPC2
+176 more
Copy number loss
See cases
GPathogenic
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