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Items: 41

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
C5, C5-OT1
+99 more
Copy number loss
See cases
GPathogenic
ABCA2, ABL1
+1272 more
Copy number gain
See cases
GPathogenic
ABCA2, ABL1
+1268 more
Copy number gain
See cases
GPathogenic
LOC113839504, MORN5
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
LOC113839504, MORN5
(E2G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MORN5
(E28K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MORN5
(G51R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MORN5
(D85E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MORN5
(P101T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MORN5
(A102P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MORN5
(I72V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MORN5
(P112S)
Single nucleotide variant
(synonymous variant +1 more)
not specified
GUncertain significance
MORN5
(D122N)
Single nucleotide variant
(synonymous variant +1 more)
not specified
GUncertain significance
MORN5
(T132K)
Single nucleotide variant
(synonymous variant +1 more)
not specified
GUncertain significance
MORN5
(F142S)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
MORN5
(A146T)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
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
ABCA1, ABITRAM
+130 more
Copy number loss
not specified
GPathogenic
ANKRD18A, ANKRD18B
+768 more
Copy number gain
not specified
GPathogenic
ADGRD2, ASTN2
+49 more
Copy number loss
not provided
GPathogenic
CRB2, DENND1A
+28 more
Copy number loss
not provided
GUncertain significance
AMBP, ANAPC2
+552 more
Copy number gain
not provided
GPathogenic
MSMP, OR13D1
+769 more
Copy number gain
not provided
GPathogenic
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
+279 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+771 more
Copy number gain
See cases
GPathogenic
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