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Items: 1 to 100 of 125

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, CLRN3
+34 more
Copy number gain
See cases
GUncertain significance
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
AS-PTPRE, CLRN3
+32 more
Copy number gain
See cases
GUncertain significance
LOC130005028, LOC130005029
+170 more
Copy number loss
See cases
GPathogenic
EBF3, ECHS1
+168 more
Copy number gain
See cases
GPathogenic
LOC107984281, LOC110120892
+9 more
Copy number gain
See cases
GUncertain significance
EBF3, LOC107984281
+11 more
Copy number gain
See cases
GUncertain significance
ADAM8, ADGRA1
+165 more
Copy number loss
See cases
GPathogenic
MGMT
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
MGMT
Single nucleotide variant
(5 prime UTR variant)
Inborn genetic diseases
GUncertain significance
MGMT
Single nucleotide variant
(5 prime UTR variant)
Glioblastoma
Gnot provided
MGMT
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
MGMT
(E25G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MGMT
(E30K)
Single nucleotide variant
(missense variant)
not specified
+1 more
GLikely benign
MGMT
(L33F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADAM8, ADGRA1
+163 more
Copy number loss
See cases
GPathogenic
ADAM8, ADGRA1
+158 more
Copy number loss
See cases
GPathogenic
MGMT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MGMT
(A75T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MGMT
(P80A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MGMT
(V81M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MGMT
(P82L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MGMT
(H86R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MGMT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MGMT
(T95S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
C10orf143, EBF3
+28 more
Copy number loss
See cases
GPathogenic
MGMT
(G153R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MGMT
(W167S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MGMT
(K178R)
Single nucleotide variant
(missense variant)
not provided
GBenign
MGMT
(L181S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MGMT
(L181F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MGMT
(A190T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
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
EBF3, MGMT
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
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
ADAM12, BCCIP
+24 more
Copy number gain
not provided
GUncertain significance
ADAM8, ADGRA1
+30 more
Copy number loss
not provided
GPathogenic
CLRN3, DOCK1
+7 more
Copy number loss
not provided
GPathogenic
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
EBF3, GLRX3
+1 more
Copy number gain
not specified
GUncertain significance
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
EBF3, GLRX3
+1 more
Copy number gain
not provided
GUncertain significance
EBF3, GLRX3
+1 more
Copy number loss
not provided
GPathogenic
TCERG1L, TCERG1L-AS1
+35 more
Copy number loss
Global developmental delay
GPathogenic
PPP2R2D, BNIP3
+37 more
Copy number loss
not provided
GPathogenic
MGMT
Copy number loss
not provided
GUncertain significance
MGMT
Copy number loss
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
EBF3, GLRX3
+1 more
Deletion
Paroxysmal dyskinesia
GLikely pathogenic
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