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Items: 68

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130058340, LOC130058341
+925 more
Copy number gain
See cases
GPathogenic
ABAT, ABCC1
+851 more
Copy number gain
See cases
GPathogenic
BFAR, CPPED1
+113 more
Copy number loss
See cases
GLikely pathogenic
BFAR, CPPED1
+110 more
Copy number loss
See cases
GPathogenic
ABCC1, ABCC6
+101 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+58 more
Copy number gain
See cases
GUncertain significance
ABCC1, BFAR
+45 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+46 more
Duplication
not specified
GUncertain significance
ABCC1, ABCC6
+57 more
Deletion
16p13.11 recurrent microdeletion syndrome
GLikely pathogenic
ABCC1, ABCC6
+57 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+56 more
Copy number loss
See cases
GPathogenic
ABCC1, ABCC6
+56 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+56 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+55 more
Deletion
Autism
GPathogenic
ABCC1, ABCC6
+54 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+45 more
Copy number loss
See cases
GPathogenic
MIR3180-1, MIR3180-2
+54 more
Deletion
Schizophrenia
GPathogenic
MIR484, MIR6506
+54 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+95 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+54 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+54 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+43 more
Copy number loss
See cases
GPathogenic
ABCC1, ABCC6
+96 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+44 more
Copy number loss
See cases
GPathogenic
ABCC1, ABCC6
+44 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+54 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+96 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+54 more
Copy number gain
See cases
GUncertain significance
ABCC6, BMERB1
+54 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+54 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+54 more
Copy number gain
See cases
GUncertain significance
MIR3179-2, MIR3180-1
+54 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+54 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+44 more
Copy number loss
See cases
GPathogenic
ABCC1, ABCC6
+54 more
Copy number loss
See cases
GPathogenic
ABCC1, ABCC6
+54 more
Copy number loss
See cases
GPathogenic
ABCC1, ABCC6
+43 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+54 more
Copy number loss
See cases
GPathogenic
ABCC1, ABCC6
+54 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+54 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+54 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+54 more
Copy number loss
See cases
GPathogenic
MIR3180-4, MIR6770-2
+54 more
Copy number gain
Anomalous pulmonary venous return
GUncertain significance
ABCC1, ABCC6
+54 more
Copy number loss
See cases
GPathogenic
ABCC1, BMERB1
+41 more
Copy number loss
See cases
GPathogenic
ABCC1, ABCC6
+54 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+54 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+54 more
Copy number gain
See cases
GConflicting classifications of pathogenicity
ABCC1, BMERB1
+41 more
Copy number gain
See cases
GUncertain significance
LOC100288162, LOC112340377
+11 more
Copy number loss
See cases
GUncertain significance
ABCC1, ABCC6
+96 more
Copy number loss
See cases
GPathogenic
ABCC1, ABCC6
+85 more
Copy number loss
See cases
GPathogenic
ABCC1, BMERB1
+41 more
Copy number gain
See cases
GUncertain significance
LOC100288162, LOC112340380
+54 more
Copy number gain
See cases
GUncertain significance
ABCC1, BMERB1
+41 more
Copy number loss
See cases
GPathogenic
ABCC1, ABCC6
+54 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+54 more
Copy number loss
See cases
GPathogenic
ABCC1, ABCC6
+54 more
Copy number loss
See cases
GPathogenic
LOC100288162, LOC100505915
+16 more
Copy number loss
See cases
GLikely benign
ABCC1, ABCC6
+85 more
Copy number loss
See cases
GPathogenic
ABCC1, ABCC6
+45 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+54 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+43 more
Copy number gain
See cases
GUncertain significance
ABCC1, BMERB1
+40 more
Copy number gain
See cases
GUncertain significance
ABCC1, BMERB1
+40 more
Copy number loss
See cases
GPathogenic
ABCC1, BMERB1
+41 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+43 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+41 more
Copy number gain
See cases
GUncertain significance
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