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Items: 44

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
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
ADAM8, ADGRA1
+135 more
Copy number loss
See cases
GUncertain significance
ADAM8, ADGRA1
+127 more
Copy number loss
See cases
GLikely pathogenic
ADAM8, ADGRA1
+127 more
Copy number loss
See cases
GPathogenic
ADAM8, ADGRA1
+115 more
Copy number loss
See cases
GPathogenic
ADAM8, ADGRA1
+105 more
Copy number loss
See cases
GPathogenic
ADAM8, ADGRA1
+69 more
Copy number gain
See cases
GUncertain significance
ADAM8, ADGRA1
+79 more
Copy number loss
See cases
GPathogenic
ADAM8, ADGRA1
+61 more
Copy number loss
See cases
GUncertain significance
ADAM8, ADGRA1
+59 more
Copy number gain
See cases
GUncertain significance
ADAM8, ADGRA1
+59 more
Copy number loss
See cases
GUncertain significance
ADAM8, ADGRA1
+58 more
Copy number gain
See cases
GUncertain significance
ADAM8, CALY
+40 more
Copy number loss
See cases
GBenign
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