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Items: 45

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
ABCA1, ABHD17B
+1072 more
Copy number gain
See cases
GPathogenic
ABCA1, ABHD17B
+1188 more
Copy number gain
See cases
GPathogenic
LOC130002218, LOC130002219
+994 more
Copy number gain
See cases
GPathogenic
AOPEP, ASPN
+268 more
Copy number loss
See cases
GPathogenic
LOC132089736, LOC132089737
+313 more
Copy number gain
See cases
GPathogenic
AOPEP, BARX1
+76 more
Copy number gain
See cases
GUncertain significance
ANP32B, AOPEP
+197 more
Copy number loss
See cases
GPathogenic
LOC124310599, LOC124310600
+94 more
Copy number loss
Gorlin syndrome
GPathogenic
AOPEP, ERCC6L2
+52 more
Copy number loss
See cases
GPathogenic
LOC130002205, LOC130002206
+417 more
Copy number loss
See cases
GPathogenic
AOPEP, BARX1
+14 more
Copy number loss
not specified
GPathogenic
DMAC1, DMRT1
+769 more
Copy number gain
not specified
GPathogenic
CARD19, MIR24-1
+106 more
Deletion
not provided
GPathogenic
AOPEP, BARX1
+22 more
Copy number loss
not provided
GPathogenic
ADAMTSL1, CEP78
+596 more
Copy number gain
See cases
GPathogenic
ATOSB, ATP6V1G1
+417 more
Copy number loss
Distal tetrasomy 15q
GUncertain significance
ABCA1, ABHD17B
+261 more
Copy number gain
not specified
GLikely pathogenic
ANKRD18A, ANKRD18B
+768 more
Copy number gain
not specified
GPathogenic
AOPEP, ERCC6L2
+7 more
Duplication
not provided
GUncertain significance
ALDOB, ALG2
+87 more
Copy number loss
Gorlin syndrome
GPathogenic
AOPEP, ERCC6L2
+5 more
Copy number gain
not provided
GUncertain significance
PRXL2C, TBC1D2
+55 more
Deletion
Intellectual disability
GPathogenic
TSTD2, XPA
+84 more
Copy number loss
See cases
GPathogenic
ANKS6, ANP32B
+326 more
Inversion
Abnormal chromosome morphology
+1 more
GLikely pathogenic
AMBP, ANAPC2
+552 more
Copy number gain
not provided
GPathogenic
MSMP, OR13D1
+769 more
Copy number gain
not provided
GPathogenic
PTCH1, MIR23B
+5 more
Copy number loss
not provided
GPathogenic
ANGPTL2, ANKS6
+555 more
Copy number gain
Seizure
+2 more
GLikely pathogenic
ODF2, OGN
+769 more
Copy number gain
See cases
GPathogenic
AOPEP, CCDC180
+26 more
Copy number loss
See cases
GPathogenic
ALG2, ANKS6
+40 more
Copy number gain
See cases
GLikely pathogenic
AOPEP, FANCC
+3 more
Copy number loss
See cases
GUncertain significance
ABCA1, ABCA2
+771 more
Copy number gain
See cases
GPathogenic
AOPEP, CDC14B
+17 more
Copy number loss
See cases
GPathogenic
MIR24-1, MIR27B
+5 more
Copy number gain
See cases
GLikely pathogenic
ABCA1, ABCA2
+771 more
Copy number gain
See cases
GPathogenic
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