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Items: 57

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
LOC130002885, LOC130002886
+789 more
Copy number gain
See cases
GPathogenic
PAEP, PIERCE1
+536 more
Copy number gain
See cases
GPathogenic
ABCA2, ABL1
+656 more
Copy number gain
See cases
GPathogenic
LOC110121282, LOC111365185
+530 more
Copy number gain
See cases
GPathogenic
BRD3, BRD3OS
+510 more
Copy number gain
See cases
GPathogenic
ABCA2, ADAMTSL2
+439 more
Copy number gain
See cases
GPathogenic
LOC130002964, LOC130002965
+417 more
Copy number gain
See cases
GPathogenic
ABCA2, AGPAT2
+405 more
Copy number gain
See cases
GPathogenic
LOC130003068, LOC130003069
+392 more
Copy number gain
See cases
GPathogenic
ABCA2, AGPAT2
+371 more
Copy number loss
See cases
GPathogenic
COL5A1, COL5A1-AS1
+24 more
Copy number gain
See cases
GUncertain significance
LCN15, LCN6
+265 more
Copy number loss
See cases
GPathogenic
CAMSAP1, CARD9
+86 more
Copy number gain
See cases
GUncertain significance
LINC02907
Copy number gain
See cases
GBenign
LINC02907
Copy number gain
See cases
GBenign
LINC02907
Copy number gain
See cases
GBenign
GTF3C5, HMCN2
+147 more
Duplication
not provided
GUncertain significance
CAMSAP1, GLT6D1
+12 more
Copy number gain
not specified
GUncertain significance
ABCA1, ABCA2
+769 more
Copy number gain
not specified
GPathogenic
ABCA2, AGPAT2
+95 more
Copy number gain
not provided
GPathogenic
ENTPD8, INPP5E
+110 more
Duplication
Kleefstra syndrome 1
GUncertain significance
ABCA2, ABL1
+187 more
Duplication
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
GUncertain significance
ABCA2, ABO
+100 more
Duplication
Autosomal dominant nocturnal frontal lobe epilepsy 5
+4 more
GUncertain significance
OR1L4, PTRH1
+768 more
Copy number gain
not specified
GPathogenic
SEC16A, UBAC1
+29 more
Duplication
Ehlers-Danlos syndrome, classic type, 1
+1 more
GUncertain significance
PPP1R26, SOHLH1
+11 more
Copy number gain
See cases
GUncertain significance
PPP1R26, LCN1
+5 more
Copy number gain
not provided
GUncertain significance
TMEM250, PPP1R26
+88 more
Copy number loss
Microcephaly
GPathogenic
ABCA1, ABCA2
+552 more
Copy number gain
not provided
GPathogenic
ABCA1, ABCA2
+769 more
Copy number gain
not provided
GPathogenic
GTF3C4, GTF3C5
+55 more
Duplication
Ehlers-Danlos syndrome, classic type
GUncertain significance
ABCA2, ABO
+130 more
Copy number gain
not provided
GPathogenic
LINC02907, OLFM1
+11 more
Copy number gain
not provided
GUncertain significance
SEC16A, SEC61B
+553 more
Copy number gain
Hypotonia
+2 more
GLikely pathogenic
CAMSAP1, OLFM1
+128 more
Copy number loss
mTOR Inhibitor response
Gdrug response
ABCA1, ABCA2
+769 more
Copy number gain
See cases
GPathogenic
ABCA2, AGPAT2
+88 more
Copy number loss
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
CAMSAP1, GLT6D1
+10 more
Copy number gain
See cases
GUncertain significance
ABCA2, AGPAT2
+88 more
Copy number loss
See cases
GPathogenic
ANGPTL2, ANKRD18A
+771 more
Copy number gain
See cases
GPathogenic
LINC02907
Copy number gain
Abnormal esophagus morphology
GBenign
LINC02907
Copy number gain
Premature ovarian failure
GBenign
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