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Items: 87

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
ABRAXAS2, ACADSB
+164 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
C10orf90, LOC126861081
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
C10orf90, LOC728158
(R687W +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
C10orf90, LOC728158
(R586H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
C10orf90, LOC728158
(A672V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
C10orf90
(R547L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
C10orf90
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
C10orf90
(R472* +1 more)
Single nucleotide variant
(nonsense +2 more)
not provided
GBenign
C10orf90
Single nucleotide variant
(synonymous variant +2 more)
not provided
GBenign
C10orf90
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
C10orf90
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
C10orf90
(N467D +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
C10orf90
(R287K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
C10orf90
(L254P +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
C10orf90
(G312E +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
C10orf90
(A250T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
C10orf90
(L107S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
C10orf90
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
ABRAXAS2, ACADSB
+80 more
Copy number loss
not provided
GPathogenic
ABRAXAS2, ADAM12
+55 more
Copy number loss
not specified
GPathogenic
ABCC2, ABLIM1
+293 more
Copy number gain
not specified
GPathogenic
ABRAXAS2, ADAM12
+54 more
Copy number loss
not specified
GPathogenic
ABLIM1, ABRAXAS2
+117 more
Copy number gain
not provided
GPathogenic
ABLIM1, ABRAXAS2
+145 more
Copy number gain
Distal trisomy 10q
GPathogenic
ABRAXAS2, ADAM12
+62 more
Copy number loss
Distal 10q deletion syndrome
GPathogenic
PIK3AP1, SVIL
+682 more
Copy number gain
Distal trisomy 10q
GPathogenic
GLRX3, GPR26
+77 more
Copy number loss
Distal 10q deletion syndrome
GPathogenic
RRP12, USP54
+673 more
Copy number loss
Distal 10q deletion syndrome
GPathogenic
ABRAXAS2, ACADSB
+80 more
Copy number loss
not provided
GPathogenic
ADAM12, BCCIP
+24 more
Copy number gain
not provided
GUncertain significance
C10orf90
Copy number gain
not provided
GUncertain significance
ADAM12, ADAM8
+47 more
Copy number gain
See cases
GPathogenic
ADAM12, ADAM8
+47 more
Copy number loss
See cases
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
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
CTBP2, MMP21
+9 more
Copy number gain
not provided
GUncertain significance
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
ABCC2, ABLIM1
+305 more
Copy number gain
See cases
GPathogenic
ADAM12, ADAM8
+41 more
Copy number loss
See cases
GPathogenic
A1CF, ABCC2
+721 more
Copy number gain
See cases
GPathogenic
A1CF, ABCC2
+721 more
Copy number gain
See cases
GPathogenic
ABRAXAS2, ACADSB
+73 more
Copy number loss
See cases
GPathogenic
BCCIP, BEND7
+722 more
Copy number gain
See cases
GPathogenic
ABLIM1, ABRAXAS2
+201 more
Copy number gain
See cases
GPathogenic
C10orf90, CHST15
+40 more
Copy number loss
See cases
GPathogenic
ACADSB, ADAM12
+75 more
Copy number loss
See cases
GPathogenic
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