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Items: 79

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
MED27, MIGA2
+789 more
Copy number gain
See cases
GPathogenic
ABL1, ABO
+536 more
Copy number gain
See cases
GPathogenic
LOC130003057, LOC130003058
+656 more
Copy number gain
See cases
GPathogenic
LOC124375238, LOC124375239
+569 more
Copy number loss
Kleefstra syndrome 1
GPathogenic
GBGT1, GLT6D1
+552 more
Copy number loss
Kleefstra syndrome 1
GPathogenic
ABCA2, ABO
+572 more
Copy number loss
Kleefstra syndrome 1
GPathogenic
LOC130002921, LOC130002922
+572 more
Copy number loss
Kleefstra syndrome 1
GPathogenic
LOC121366034, LOC121366035
+572 more
Copy number loss
Kleefstra syndrome 1
GPathogenic
SARDH, SEC16A
+568 more
Copy number loss
Kleefstra syndrome 1
GPathogenic
ABCA2, ABO
+572 more
Copy number loss
Kleefstra syndrome 1
GPathogenic
LOC130003026, LOC130003027
+530 more
Copy number gain
See cases
GPathogenic
ABCA2, ABO
+510 more
Copy number gain
See cases
GPathogenic
LOC129390118, LOC130002920
+439 more
Copy number gain
See cases
GPathogenic
INPP5E, KCNT1
+417 more
Copy number gain
See cases
GPathogenic
LOC130003077, LOC130003078
+405 more
Copy number gain
See cases
GPathogenic
ABCA2, AGPAT2
+392 more
Copy number gain
See cases
GPathogenic
ABCA2, AGPAT2
+388 more
Copy number loss
Kleefstra syndrome 1
GPathogenic
UAP1L1, UBAC1
+371 more
Copy number loss
See cases
GPathogenic
ABCA2, AGPAT2
+367 more
Copy number loss
Kleefstra syndrome 1
GPathogenic
LOC124375251, LOC126860788
+265 more
Copy number loss
See cases
GPathogenic
ABCA2, AGPAT2
+347 more
Copy number loss
Kleefstra syndrome 1
GPathogenic
CAMSAP1, CARD9
+86 more
Copy number gain
See cases
GUncertain significance
UBAC1, ZMYND19
+346 more
Copy number loss
Kleefstra syndrome 1
GPathogenic
LOC130003123, LOC130003124
+345 more
Copy number loss
Kleefstra syndrome 1
GPathogenic
EHMT1, ENTPD2
+347 more
Copy number loss
Kleefstra syndrome 1
GPathogenic
ABCA2, AGPAT2
+344 more
Copy number loss
Kleefstra syndrome 1
GPathogenic
ABCA2, AGPAT2
+311 more
Copy number loss
See cases
GPathogenic
QSOX2, RABL6
+324 more
Copy number gain
See cases
GLikely pathogenic
ABCA2, AGPAT2
+325 more
Copy number loss
Kleefstra syndrome 1
GPathogenic
LOC130003073, LOC130003074
+310 more
Copy number loss
Kleefstra syndrome 1
GPathogenic
LOC126860801, LOC129390118
+309 more
Copy number loss
Kleefstra syndrome 1
GPathogenic
LOC130003044, LOC130003045
+309 more
Copy number loss
Kleefstra syndrome 1
GPathogenic
C9orf163, CARD9
+46 more
Copy number loss
See cases
GPathogenic
LOC130003070, LOC130003071
+283 more
Copy number loss
See cases
GPathogenic
ABCA2, AGPAT2
+284 more
Copy number loss
See cases
GPathogenic
ABCA2, AGPAT2
+283 more
Copy number loss
See cases
GPathogenic
HMCN2, IER5L
+147 more
Duplication
not provided
GUncertain significance
DMAC1, DMRT1
+769 more
Copy number gain
not specified
GPathogenic
ABCA2, AGPAT2
+95 more
Copy number gain
not provided
GPathogenic
STKLD1, STPG3
+110 more
Duplication
Kleefstra syndrome 1
GUncertain significance
NOXA1, NPDC1
+85 more
Deletion
Adams-Oliver syndrome 5
+3 more
GConflicting classifications of pathogenicity
ABCA2, ABL1
+187 more
Duplication
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GUncertain significance
ABCA2, AGPAT2
+73 more
Deletion
Rafiq syndrome
GPathogenic
REXO4, RNU6ATAC
+100 more
Duplication
Tuberous sclerosis 1
+4 more
GUncertain significance
ABCA2, AGPAT2
+77 more
Copy number loss
not specified
GPathogenic
ANKRD18A, ANKRD18B
+768 more
Copy number gain
not specified
GPathogenic
C9orf163, CAMSAP1
+29 more
Duplication
Adams-Oliver syndrome 5
+1 more
GUncertain significance
ABCA2, AGPAT2
+49 more
Duplication
Developmental and epileptic encephalopathy, 14
+2 more
GUncertain significance
LINC02908, LOC651337
+73 more
Deletion
Kleefstra syndrome 1
GPathogenic
ABCA2, AGPAT2
+77 more
Deletion
Kleefstra syndrome 1
+2 more
GConflicting classifications of pathogenicity
ABCA2, AGPAT2
+88 more
Copy number loss
Microcephaly
GPathogenic
AMBP, ANAPC2
+552 more
Copy number gain
not provided
GPathogenic
MSMP, OR13D1
+769 more
Copy number gain
not provided
GPathogenic
C9orf163, CAMSAP1
+15 more
Duplication
Developmental and epileptic encephalopathy, 14
+1 more
GUncertain significance
C9orf163, CAMSAP1
+15 more
Duplication
Adams-Oliver syndrome 5
GUncertain significance
C9orf163, CAMSAP1
+15 more
Deletion
Adams-Oliver syndrome 5
GPathogenic
ABCA2, ABO
+130 more
Copy number gain
not provided
GPathogenic
ANGPTL2, ANKS6
+555 more
Copy number gain
Seizure
+2 more
GLikely pathogenic
DPH7, OLFM1
+128 more
Copy number loss
mTOR Inhibitor response
Gdrug response
ODF2, OGN
+769 more
Copy number gain
See cases
GPathogenic
ABCA2, AGPAT2
+87 more
Copy number gain
See cases
GLikely pathogenic
ABCA2, AGPAT2
+88 more
Copy number loss
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
ABCA2, AGPAT2
+88 more
Copy number loss
See cases
GPathogenic
ABCA1, ABCA2
+771 more
Copy number gain
See cases
GPathogenic
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