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Items: 26

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130001539, LOC130001540
+3785 more
Copy number gain
See cases
GPathogenic
BSPRY, C5
+3784 more
Copy number gain
See cases
GPathogenic
LOC113839508, LOC113839509
+3785 more
Copy number gain
See cases
GPathogenic
FKBP15, FKTN
+3785 more
Copy number gain
See cases
GPathogenic
LOC130001667, LOC130001668
+3785 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3785 more
Copy number gain
See cases
GPathogenic
LOC116186942, LOC116186943
+3785 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3785 more
Copy number gain
See cases
GPathogenic
LOC121366033, LOC121366034
+3785 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
ADGRD2, ARPC5L
+172 more
Copy number loss
See cases
GPathogenic
ADGRD2, C5
+50 more
Copy number loss
not specified
GPathogenic
DMAC1, DMRT1
+769 more
Copy number gain
not specified
GPathogenic
ADGRD2, ANGPTL2
+59 more
Copy number loss
not provided
GPathogenic
ADAMTSL1, CEP78
+596 more
Copy number gain
See cases
GPathogenic
ADGRD2, AK1
+141 more
Copy number gain
not specified
GPathogenic
ANKRD18A, ANKRD18B
+768 more
Copy number gain
not specified
GPathogenic
AMBP, ANAPC2
+552 more
Copy number gain
not provided
GPathogenic
MSMP, OR13D1
+769 more
Copy number gain
not provided
GPathogenic
ISCA1, MIR32
+555 more
Copy number gain
Global developmental delay
+2 more
GLikely pathogenic
ODF2, OGN
+769 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+771 more
Copy number gain
See cases
GPathogenic
ABCA2, ABL1
+279 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+771 more
Copy number gain
See cases
GPathogenic
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