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Items: 55

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MIR138-2, MIR140
+1738 more
Copy number gain
See cases
GPathogenic
LOC130059829, LOC130059830
+1429 more
Copy number gain
See cases
GPathogenic
LOC108281164, LOC109029536
+1426 more
Copy number gain
See cases
GPathogenic
LOC130059834, LOC130059835
+1424 more
Copy number gain
See cases
GPathogenic
LOC130059850, LOC130059851
+1041 more
Copy number gain
See cases
GPathogenic
PKD1L2, PKD1L3
+1031 more
Copy number gain
See cases
GPathogenic
LOC130059772, LOC130059773
+832 more
Copy number gain
See cases
GPathogenic
LOC132090418, LOC132090419
+788 more
Copy number gain
See cases
GPathogenic
ACSF3, ADAD2
+781 more
Copy number gain
See cases
GPathogenic
LOC130059506, LOC130059507
+447 more
Copy number loss
See cases
GPathogenic
LOC130059746, LOC130059747
+719 more
Copy number gain
See cases
GPathogenic
LOC130059500, LOC130059501
+691 more
Copy number gain
See cases
GPathogenic
LOC132090448, LOC132090449
+677 more
Copy number gain
See cases
GPathogenic
LOC130059591, LOC130059592
+670 more
Copy number gain
See cases
GPathogenic
LOC130059691, LOC130059692
+566 more
Copy number gain
See cases
GPathogenic
ACSF3, ADAD2
+531 more
Copy number gain
See cases
GLikely pathogenic
LOC130059603, LOC130059604
+227 more
Copy number loss
See cases
GPathogenic
ACSF3, ADAD2
+534 more
Copy number gain
See cases
GLikely pathogenic
ACSF3, ANKRD11
+420 more
Copy number gain
See cases
GPathogenic
FENDRR, FLJ30679
+19 more
Copy number gain
See cases
GUncertain significance
FENDRR, FOXF1
(G20fs)
Deletion
(frameshift variant)
Alveolar capillary dysplasia with pulmonary venous misalignment
GPathogenic
ACSF3, ADAD2
+87 more
Copy number gain
not provided
GPathogenic
C16orf74, COX4I1
+6 more
Copy number gain
not specified
GUncertain significance
C16orf74, C16orf95
+25 more
Copy number loss
not provided
GPathogenic
FENDRR, FOXC2
+4 more
Duplication
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
+1 more
GUncertain significance
ACSF3, ADAD2
+150 more
Copy number gain
Syndromic anorectal malformation
GLikely pathogenic
FENDRR, FOXF1
+2 more
Deletion
not provided
GPathogenic
AARS1, ABCC11
+368 more
Copy number gain
not provided
GPathogenic
BANP, BCO1
+102 more
Copy number gain
not provided
GPathogenic
FOXL1, FENDRR
+3 more
Copy number gain
not provided
GUncertain significance
AARS1, ACD
+268 more
Copy number gain
not provided
Gnot provided
FBXO31, ZCCHC14-DT
+9 more
Deletion
Alveolar capillary dysplasia with pulmonary venous misalignment
GPathogenic
ZCCHC14-DT, ZDHHC7
+20 more
Copy number loss
Alveolar capillary dysplasia with pulmonary venous misalignment
GPathogenic
ACSF3, ADAD2
+83 more
Copy number gain
not provided
GPathogenic
ACSF3, ADAD2
+103 more
Copy number gain
not provided
GPathogenic
ACSF3, ADAD2
+136 more
Copy number gain
not provided
GPathogenic
CA7, COG8
+368 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
KCTD19, KIAA0513
+368 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
C16orf74, C16orf95
+18 more
Copy number loss
See cases
GPathogenic
CBLN1, CCDC102A
+591 more
Copy number gain
See cases
GUncertain significance
AARS1, ABAT
+811 more
Copy number gain
See cases
GPathogenic
CCL22, CCNF
+811 more
Copy number gain
See cases
GPathogenic
ACSF3, ANKRD11
+57 more
Copy number gain
See cases
GLikely pathogenic
ACSF3, ANKRD11
+59 more
Copy number gain
See cases
GPathogenic
AARS1, ACD
+292 more
Copy number gain
See cases
GPathogenic
ACSF3, ADAD2
+87 more
Copy number gain
See cases
GLikely pathogenic
FENDRR
Copy number gain
See cases
GLikely benign
ABCC6, BCL7C
+811 more
Copy number gain
See cases
GPathogenic
FENDRR
Copy number gain
See cases
GBenign/Likely benign
FENDRR
Copy number gain
See cases
GBenign
ACSF3, ADAD2
+127 more
Copy number gain
See cases
GPathogenic
ACSF3, ADAD2
+140 more
Copy number loss
Breast ductal adenocarcinoma
GUncertain significance
ATXN1L, B3GNT9
+368 more
Copy number loss
Breast ductal adenocarcinoma
GUncertain significance
ADGRG5, CFAP263
+324 more
Complex
Breast ductal adenocarcinoma
GUncertain significance
C16orf46, C16orf74
+150 more
Translocation
not provided
GLikely pathogenic
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