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Items: 34

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130004500, LOC130004501
+821 more
Copy number gain
See cases
GPathogenic
EDRF1-AS1, EDRF1-DT
+1036 more
Copy number gain
See cases
GPathogenic
GSTO1, GSTO2
+1097 more
Copy number gain
See cases
GPathogenic
ABLIM1, ACSL5
+308 more
Copy number loss
See cases
GPathogenic
LOC126861107, LOC128598885
+802 more
Copy number gain
See cases
GPathogenic
ABLIM1, ABRAXAS2
+679 more
Copy number gain
See cases
GPathogenic
LOC126861050, LOC126861051
+248 more
Copy number gain
See cases
GLikely pathogenic
ABLIM1, ATRNL1
+45 more
Copy number loss
See cases
GPathogenic
PNLIPRP2
(T134I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PNLIPRP2
(A215V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PNLIPRP2
(G269R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC172, EMX2
+14 more
Duplication
Microphthalmia, syndromic 11
GUncertain significance
ABCC2, ABLIM1
+293 more
Copy number gain
not specified
GPathogenic
ABLIM1, ACSL5
+70 more
Copy number gain
not specified
GLikely pathogenic
ABLIM1, ABRAXAS2
+117 more
Copy number gain
not provided
GPathogenic
ABLIM1, ABRAXAS2
+145 more
Copy number gain
Distal trisomy 10q
GPathogenic
AGAP5, CRTAC1
+682 more
Copy number gain
Distal trisomy 10q
GPathogenic
ABRAXAS2, CHCHD1
+673 more
Copy number loss
Distal 10q deletion syndrome
GPathogenic
ACADSB, ARMS2
+54 more
Copy number loss
not specified
GPathogenic
ABLIM1, ABRAXAS2
+146 more
Copy number gain
not specified
GPathogenic
ECHS1, EDRF1
+110 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
ACADSB, ARMS2
+54 more
Copy number loss
Distal 10q deletion syndrome
GPathogenic
ABCC2, ABLIM1
+298 more
Copy number gain
not provided
GPathogenic
ABLIM1, ABRAXAS2
+157 more
Copy number gain
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
ABCC2, ABLIM1
+305 more
Copy number gain
See cases
GPathogenic
INA, INPP5A
+721 more
Copy number gain
See cases
GPathogenic
A1CF, ABCC2
+721 more
Copy number gain
See cases
GPathogenic
A1CF, ABCC2
+722 more
Copy number gain
See cases
GPathogenic
HSPA12A, C10orf82
+3 more
Copy number loss
See cases
GUncertain significance
ABLIM1, ABRAXAS2
+201 more
Copy number gain
See cases
GPathogenic
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