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Items: 33

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130001537, LOC130001538
+3785 more
Copy number gain
See cases
GPathogenic
LOC130002976, LOC130002977
+3784 more
Copy number gain
See cases
GPathogenic
LOC130001468, LOC130001469
+3785 more
Copy number gain
See cases
GPathogenic
DNAJB5, DNAJB5-DT
+3785 more
Copy number gain
See cases
GPathogenic
LOC114827838, LOC116186936
+3785 more
Copy number gain
See cases
GPathogenic
LOC124252641, LOC124252642
+3785 more
Copy number gain
See cases
GPathogenic
LOC114022701, LOC114022702
+3785 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3785 more
Copy number gain
See cases
GPathogenic
LOC110120726, LOC110120727
+3785 more
Copy number gain
See cases
GPathogenic
LOC130002527, LOC130002528
+1272 more
Copy number gain
See cases
GPathogenic
ABCA2, ABL1
+1268 more
Copy number gain
See cases
GPathogenic
LOC130003109, LOC130003110
+1210 more
Copy number gain
See cases
GPathogenic
ADGRD2, ARPC5L
+172 more
Copy number loss
See cases
GPathogenic
AK1, ANGPTL2
+250 more
Copy number loss
See cases
GPathogenic
AK1, ANGPTL2
+309 more
Copy number loss
See cases
GPathogenic
ANGPTL2, CFAP157
+93 more
Copy number loss
See cases
GPathogenic
ABCA1, ABCA2
+769 more
Copy number gain
not specified
GPathogenic
ADGRD2, ANGPTL2
+59 more
Copy number loss
not provided
GPathogenic
ANKS6, ANP32B
+596 more
Copy number gain
See cases
GPathogenic
AK1, ANGPTL2
+29 more
Copy number loss
not specified
GPathogenic
ADGRD2, AK1
+141 more
Copy number gain
not specified
GPathogenic
OR1L4, PTRH1
+768 more
Copy number gain
not specified
GPathogenic
AK1, ANGPTL2
+75 more
Copy number gain
not provided
GPathogenic
AK1, ANGPTL2
+27 more
Copy number loss
Developmental and epileptic encephalopathy, 4
+1 more
GPathogenic
MVB12B, LMX1B
+1 more
Copy number gain
not provided
GUncertain significance
ABCA1, ABCA2
+552 more
Copy number gain
not provided
GPathogenic
ABCA1, ABCA2
+769 more
Copy number gain
not provided
GPathogenic
SEC16A, SEC61B
+553 more
Copy number gain
Hypotonia
+2 more
GLikely pathogenic
ABCA1, ABCA2
+769 more
Copy number gain
See cases
GPathogenic
UBQLN1, UCK1
+771 more
Copy number gain
See cases
GPathogenic
ABCA2, ABL1
+228 more
Copy number gain
See cases
GPathogenic
OR1L8, OR1N1
+279 more
Copy number gain
See cases
GPathogenic
ANGPTL2, ANKRD18A
+771 more
Copy number gain
See cases
GPathogenic
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