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Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EDRF1-AS1, EDRF1-DT
+1036 more
Copy number gain
See cases
GPathogenic
GSTO1, GSTO2
+1097 more
Copy number gain
See cases
GPathogenic
LOC126861107, LOC128598885
+802 more
Copy number gain
See cases
GPathogenic
ABLIM1, ABRAXAS2
+679 more
Copy number gain
See cases
GPathogenic
ABRAXAS2, ACADSB
+514 more
Copy number gain
See cases
GPathogenic
LOC130004884, LOC130004885
+438 more
Copy number gain
See cases
GPathogenic
LOC130004881, LOC130004882
+418 more
Copy number loss
See cases
GPathogenic
LOC130005014, LOC130005015
+409 more
Copy number loss
See cases
GPathogenic
FUOM, GLRX3
+399 more
Copy number loss
See cases
GPathogenic
LOC130004911, LOC130004912
+395 more
Copy number loss
See cases
GPathogenic
ABRAXAS2, ACADSB
+383 more
Copy number loss
See cases
GPathogenic
LOC130004994, LOC130004995
+361 more
Copy number loss
See cases
GPathogenic
ABRAXAS2, ACADSB
+182 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
ABRAXAS2, ADAM12
+318 more
Copy number loss
See cases
GPathogenic
ABRAXAS2, ADAM12
+311 more
Copy number loss
See cases
GPathogenic
ABRAXAS2, ADAM12
+117 more
Copy number gain
See cases
GPathogenic
ABRAXAS2, ADAM12
+297 more
Copy number loss
See cases
GPathogenic
LOC130005026, LOC130005027
+257 more
Copy number loss
See cases
GPathogenic
LOC126861090, LOC126861091
+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
LOC130005011, LOC130005012
+199 more
Copy number loss
See cases
GPathogenic
ADAM8, ADGRA1
+199 more
Copy number loss
See cases
GPathogenic
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