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Items: 1 to 100 of 103

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126861081, LOC126861082
+1036 more
Copy number gain
See cases
GPathogenic
ABLIM1, ABRAXAS2
+1097 more
Copy number gain
See cases
GPathogenic
LOC130004745, LOC130004746
+802 more
Copy number gain
See cases
GPathogenic
VAX1, VENTX
+679 more
Copy number gain
See cases
GPathogenic
ABRAXAS2, ACADSB
+514 more
Copy number gain
See cases
GPathogenic
LOC126861096, LOC126861097
+438 more
Copy number gain
See cases
GPathogenic
ABRAXAS2, ACADSB
+418 more
Copy number loss
See cases
GPathogenic
LOC130004871, LOC130004872
+409 more
Copy number loss
See cases
GPathogenic
LOC130004930, LOC130004931
+399 more
Copy number loss
See cases
GPathogenic
LOC110120892, LOC110120898
+395 more
Copy number loss
See cases
GPathogenic
ABRAXAS2, ACADSB
+383 more
Copy number loss
See cases
GPathogenic
ABRAXAS2, ACADSB
+361 more
Copy number loss
See cases
GPathogenic
ABRAXAS2, ADAM12
+331 more
Copy number loss
See cases
GPathogenic
ABRAXAS2, ADAM12
+318 more
Copy number loss
See cases
GPathogenic
LOC132089760, LOC132089761
+318 more
Copy number loss
See cases
GPathogenic
LOC110120928, LOC110121444
+311 more
Copy number loss
See cases
GPathogenic
EDRF1, EDRF1-AS1
+297 more
Copy number loss
See cases
GPathogenic
ABRAXAS2, ADAM12
+257 more
Copy number loss
See cases
GPathogenic
ADAM12, ADAM8
+250 more
Copy number loss
See cases
GPathogenic
ADAM12, ADAM8
+241 more
Copy number gain
See cases
GPathogenic
ADAM12, ADAM8
+234 more
Copy number loss
See cases
GPathogenic
CLRN3, DOCK1
+201 more
Copy number loss
Hypotonia, ataxia, and delayed development syndrome
+1 more
GPathogenic
ADAM12, ADAM8
+207 more
Copy number loss
See cases
GPathogenic
LOC130005036, LOC132089757
+199 more
Copy number loss
See cases
GPathogenic
ADAM8, ADGRA1
+199 more
Copy number loss
See cases
GPathogenic
ADAM8, ADGRA1
+192 more
Copy number loss
See cases
GPathogenic
AS-PTPRE, BNIP3
+121 more
Copy number loss
See cases
GPathogenic
ADAM8, ADGRA1
+190 more
Copy number gain
See cases
GLikely pathogenic
ADAM8, ADGRA1
+189 more
Copy number loss
See cases
GPathogenic
LOC130005028, LOC130005029
+170 more
Copy number loss
See cases
GPathogenic
EBF3, ECHS1
+168 more
Copy number gain
See cases
GPathogenic
ADAM8, ADGRA1
+165 more
Copy number loss
See cases
GPathogenic
ADAM8, ADGRA1
+163 more
Copy number loss
See cases
GPathogenic
ADAM8, ADGRA1
+158 more
Copy number loss
See cases
GPathogenic
C10orf143, EBF3
+28 more
Copy number loss
See cases
GPathogenic
LOC124416934, LOC126861094
+10 more
Copy number gain
See cases
GUncertain significance
ADAM8, ADGRA1
+135 more
Copy number loss
See cases
GUncertain significance
LOC126861097, LOC126861098
+6 more
Copy number gain
See cases
GUncertain significance
ABRAXAS2, ADAM12
+55 more
Copy number loss
not specified
GPathogenic
ABCC2, ABLIM1
+293 more
Copy number gain
not specified
GPathogenic
ADAM8, ADGRA1
+31 more
Copy number loss
not specified
GPathogenic
ABRAXAS2, ADAM12
+54 more
Copy number loss
not specified
GPathogenic
ADAM8, ADGRA1
+32 more
Copy number loss
not provided
GPathogenic
ADAM8, ADGRA1
+38 more
Copy number loss
not provided
GPathogenic
BNIP3, DPYSL4
+9 more
Copy number gain
not provided
GUncertain significance
ABLIM1, ABRAXAS2
+117 more
Copy number gain
not provided
GPathogenic
ABLIM1, ABRAXAS2
+145 more
Copy number gain
Distal trisomy 10q
GPathogenic
ADAM8, ADGRA1
+38 more
Copy number loss
Distal 10q deletion syndrome
GPathogenic
ABRAXAS2, ADAM12
+62 more
Copy number loss
Distal 10q deletion syndrome
GPathogenic
MTG1, NPS
+679 more
Copy number gain
Distal trisomy 10q
GPathogenic
ABRAXAS2, ACADSB
+77 more
Copy number loss
Distal 10q deletion syndrome
GPathogenic
A1CF, ABCC2
+670 more
Copy number loss
Distal 10q deletion syndrome
GPathogenic
HMX3, LHPP
+80 more
Copy number loss
not provided
GPathogenic
ADAM8, ADGRA1
+27 more
Copy number loss
not provided
GUncertain significance
ADAM12, BCCIP
+24 more
Copy number gain
not provided
GUncertain significance
ADAM8, ADGRA1
+30 more
Copy number loss
not provided
GPathogenic
TCERG1L, TCERG1L-AS1
Copy number loss
not provided
GUncertain significance
ADAM12, ADAM8
+47 more
Copy number gain
See cases
GPathogenic
ADAM12, ADAM8
+47 more
Copy number loss
See cases
GPathogenic
GLRX3, INPP5A
+34 more
Copy number loss
See cases
GPathogenic
ADAM8, ADGRA1
+32 more
Copy number loss
not specified
GPathogenic
ADAM8, ADGRA1
+38 more
Copy number loss
not specified
GPathogenic
FAM24A, FAM24B
+80 more
Copy number loss
not specified
GPathogenic
ABRAXAS2, ACADSB
+68 more
Copy number gain
not specified
GLikely pathogenic
ABLIM1, ABRAXAS2
+146 more
Copy number gain
not specified
GPathogenic
ECHS1, EDRF1
+110 more
Copy number gain
not provided
GPathogenic
FANK1, FGFR2
+79 more
Copy number loss
See cases
GPathogenic
STK32C, SYCE1
+43 more
Deletion
Distal 10q deletion syndrome
GPathogenic
TCERG1L, TCERG1L-AS1
+35 more
Copy number loss
Global developmental delay
GPathogenic
PPP2R2D, BNIP3
+37 more
Copy number loss
not provided
GPathogenic
EBF3, TCERG1L-AS1
+2 more
Copy number gain
not provided
GUncertain significance
ADAM8, ADGRA1
+35 more
Copy number loss
not provided
GPathogenic
DPYSL4, INPP5A
+37 more
Copy number loss
not provided
GPathogenic
FGFR2, FOXI2
+95 more
Copy number gain
not provided
GPathogenic
ABRAXAS2, ADAM12
+58 more
Copy number gain
not provided
GPathogenic
ABLIM1, ABRAXAS2
+130 more
Copy number gain
not provided
GPathogenic
ABLIM1, ABRAXAS2
+146 more
Copy number gain
not provided
GPathogenic
ABCC2, ABLIM1
+298 more
Copy number gain
not provided
GPathogenic
ABLIM1, ABRAXAS2
+157 more
Copy number gain
not provided
GPathogenic
ABRAXAS2, ACADSB
+86 more
Copy number gain
not provided
GPathogenic
ABRAXAS2, ACADSB
+79 more
Copy number loss
not provided
GPathogenic
ABRAXAS2, ACADSB
+78 more
Copy number loss
not provided
GPathogenic
ABRAXAS2, ADAM12
+58 more
Copy number loss
not provided
GPathogenic
TCERG1L, LINC01166
+46 more
Copy number loss
not provided
GPathogenic
CFAP46, ECHS1
+29 more
Copy number loss
not provided
GPathogenic
COX15, CPEB3
+569 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
ABLIM1, ABRAXAS2
+151 more
Copy number gain
See cases
GPathogenic
ADAM8, ADGRA1
+37 more
Copy number gain
See cases
GPathogenic
ABCC2, ABLIM1
+305 more
Copy number gain
See cases
GPathogenic
TCERG1L, TCERG1L-AS1
Copy number gain
See cases
GLikely benign
ADAM12, ADAM8
+41 more
Copy number loss
See cases
GPathogenic
ADAM8, ADGRA1
+33 more
Copy number loss
See cases
GLikely pathogenic
ADAM8, ADGRA1
+28 more
Copy number gain
See cases
GUncertain significance
BNIP3, CFAP46
+15 more
Copy number loss
See cases
GLikely pathogenic
A1CF, ABCC2
+722 more
Copy number gain
See cases
GPathogenic
NFKB2, NHLRC2
+722 more
Copy number gain
See cases
GPathogenic
TCERG1L, TCERG1L-AS1
Copy number gain
See cases
GLikely benign
ABRAXAS2, ACADSB
+73 more
Copy number loss
See cases
GPathogenic
ADAM8, ADGRA1
+28 more
Copy number loss
See cases
GPathogenic
A1CF, ANXA8L1
+723 more
Copy number gain
See cases
GPathogenic
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