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Items: 26

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD3, ACAA2
+1646 more
Copy number gain
See cases
GPathogenic
LOC126862711, LOC126862712
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062667, LOC130062668
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062278, LOC130062279
+1643 more
Copy number gain
See cases
GPathogenic
LOC126862732, LOC126862733
+1643 more
Copy number gain
See cases
GPathogenic
ANKRD12, ANKRD29
+1642 more
Copy number gain
See cases
GPathogenic
SERPINB12, SERPINB13
+1643 more
Copy number gain
See cases
GPathogenic
LOC125368553, LOC125368554
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062355, LOC130062356
+1642 more
Copy number gain
See cases
GPathogenic
ABHD3, ANKRD29
+378 more
Copy number gain
See cases
GPathogenic
LOC126862717, LOC126862718
+1266 more
Copy number gain
See cases
GPathogenic
LOC132090510, LOC132090511
+1089 more
Copy number gain
See cases
GPathogenic
LOC132211113, LOC132211114
+1266 more
Copy number gain
See cases
GPathogenic
LOC110121416, OSBPL1A
+439 more
Deletion
Deletion of long arm of chromosome 18
GPathogenic
ASXL3, B4GALT6
+167 more
Copy number loss
See cases
GPathogenic
ASXL3, B4GALT6
+146 more
Copy number gain
See cases
GPathogenic
ASXL3, C18orf21
+129 more
Copy number loss
See cases
GPathogenic
LOC130062787, LOC130062788
+1005 more
Copy number gain
See cases
GPathogenic
LOC110120900, LOC110120940
+99 more
Copy number loss
See cases
GPathogenic
C18orf21, CELF4
+75 more
Copy number gain
See cases
GPathogenic
ARK2C, ARK2N
+119 more
Copy number loss
See cases
GPathogenic
LINC01901, CELF4
+31 more
Copy number gain
See cases
GLikely benign
ACAA2, ALPK2
+596 more
Copy number gain
See cases
GPathogenic
KC6, LINC01477
+12 more
Copy number loss
See cases
GUncertain significance
MIR5583-1, MIR5583-2
+2 more
Copy number loss
See cases
GBenign
MIR924, MIR924HG
Copy number loss
See cases
GBenign
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