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Links from MedGen

Items: 19

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FAM81A
Duplication
(intron variant)
CIC-DUX Sarcoma
Gnot provided
TUBB8
(Y281*)
Single nucleotide variant
(nonsense)
CIC-DUX Sarcoma
Gnot provided
LOC100507053, ADH4
(A18fs +1 more)
Duplication
(frameshift variant)
CIC-DUX Sarcoma
Gnot provided
ZNF208
Single nucleotide variant
(stop lost +1 more)
CIC-DUX Sarcoma
Gnot provided
RBM25
Duplication
(intron variant)
CIC-DUX Sarcoma
Gnot provided
CSNK1A1
Deletion
(3 prime UTR variant)
CIC-DUX Sarcoma
Gnot provided
FRG1
Single nucleotide variant
(splice donor variant)
CIC-DUX Sarcoma
Gnot provided
LOC126863330, RBMX
Insertion
(intron variant +1 more)
CIC-DUX Sarcoma
Gnot provided
PABPC1
Insertion
(splice acceptor variant)
CIC-DUX Sarcoma
Gnot provided
ANKRD36C
Single nucleotide variant
(splice donor variant)
CIC-DUX Sarcoma
Gnot provided
RBMX
Deletion
(5 prime UTR variant +1 more)
CIC-DUX Sarcoma
Gnot provided
USF3
(N1016fs)
Duplication
(frameshift variant)
CIC-DUX Sarcoma
Gnot provided
OR7E24
(L12fs)
Duplication
(frameshift variant +1 more)
CIC-DUX Sarcoma
Gnot provided
AKR1C2, LOC101928051
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
TNKS2
(N622fs)
Duplication
(frameshift variant)
CIC-DUX Sarcoma
Gnot provided
RAB10
Single nucleotide variant
(splice acceptor variant)
CIC-DUX Sarcoma
Gnot provided
TSTD3, CCNC
Duplication
(intron variant)
CIC-DUX Sarcoma
Gnot provided
IQGAP1
Insertion
(intron variant)
CIC-DUX Sarcoma
Gnot provided
GP1BA
Deletion
(inframe_deletion)
GP1BA-related condition
+2 more
GBenign
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