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Items: 44

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
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
AK1, ANGPTL2
+309 more
Copy number loss
See cases
GPathogenic
AK1, ASB6
+264 more
Copy number loss
See cases
GPathogenic
ASB6, BBLN
+239 more
Copy number gain
See cases
GPathogenic
CRAT, DOLK
+72 more
Copy number loss
See cases
GUncertain significance
ABL1, ASB6
+179 more
Copy number gain
See cases
GUncertain significance
ASB6, ASS1
+135 more
Copy number gain
See cases
GPathogenic
MED27, MIGA2
+789 more
Copy number gain
See cases
GPathogenic
ABL1, ABO
+536 more
Copy number gain
See cases
GPathogenic
LINC02913
(S165L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LINC02913
(R171K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LINC02913
(L213M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HMCN2, IER5L
+147 more
Duplication
not provided
GUncertain significance
BARHL1, C9orf50
+62 more
Duplication
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
ASS1, AK1
+70 more
Duplication
Dystonic disorder
GUncertain significance
ABL1, AIF1L
+29 more
Copy number loss
not specified
GPathogenic
DMAC1, DMRT1
+769 more
Copy number gain
not specified
GPathogenic
IER5L, LINC02913
+1 more
Copy number gain
not provided
GUncertain significance
ABCA2, ABL1
+187 more
Duplication
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GUncertain significance
ABL1, AIF1L
+45 more
Duplication
not provided
GUncertain significance
AK1, ASB6
+62 more
Copy number loss
not specified
GPathogenic
ANKRD18A, ANKRD18B
+768 more
Copy number gain
not specified
GPathogenic
AK1, ANGPTL2
+75 more
Copy number gain
not provided
GPathogenic
ENDOG, SET
+31 more
Copy number loss
not provided
GPathogenic
AMBP, ANAPC2
+552 more
Copy number gain
not provided
GPathogenic
MSMP, OR13D1
+769 more
Copy number gain
not provided
GPathogenic
ABL1, AIF1L
+38 more
Copy number loss
not provided
GLikely pathogenic
ANGPTL2, ANKS6
+555 more
Copy number gain
Seizure
+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
+228 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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