SH3BP2 (NM_003023.4) sequence variants
(3BP2/CRBM/CRPM/RES4-23/FLJ42079/FLJ54978/SH3-domain binding protein 2)

Editor(s): Ernst REICHENBERGER   

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Total current number of sequence variants for SH3BP2 : 22

*Name as first published or submitted to Infevers. May be different from the HGVS edited protein and sequence names.

* If you have new data: please send us a re-evaluation proposal here

HGVS sequence name
HGVS protein name
Usual name*
Classification**
Status**
Simple variant
Complex alleles
exon 13
c.1624G>A
p.(Val542Met)
V542M
Uncertain significance (VOUS)To be validated
 2019-05-13
exon 13
c.1634G>A
p.(Ser545Asn)
S545N
Uncertain significance (VOUS)To be validated
 2019-05-13
exon 13
c.1654C>T
p.(Arg552Trp)
R552W
Likely pathogenicTo be validated
 2019-05-13
exon 8
c.937G>A
p.(Gly313Arg)
G313R
Uncertain significance (VOUS)To be validated
 2019-05-13
exon 9
c.1243C>T
p.(Arg415* )
c.1243C>T
Not classifiedTo be validated
 2014-10-21
exon 6
c.464C>T
p.(Ala155Val)
A155V
Not classifiedTo be validated
 2014-01-19
exon 9
c.1253_1254delinsAT
p.(Pro418His)
P418Ha
Not classifiedTo be validated
 2014-01-02
exon 9
c.1255G>T
p.(Asp419Tyr)
D419Y
Not classifiedTo be validated
 2013-06-05
exon 3
c.147del
p.(Phe50Leufs*26)
408delC
Not classifiedTo be validated
 2011-09-01
exon 9
c.1253C>G
p.(Pro418Arg )
P418R
Not classifiedTo be validated
 2011-02-28
exon 4
c.320C>T
p.(Thr107Met)
T107M
Not classifiedTo be validated
 2010-04-14
exon 11
c.1442A>T
p.(Gln481Leu)
Q481L
Not classifiedTo be validated
 2010-04-14
exon 9
c.1255G>A
p.(Asp419Asn)
D419N
Not classifiedTo be validated
 2010-04-14
exon 9
c.1258G>A
p.(Gly420Arg)
G420R G>A
Not classifiedTo be validated
 2010-04-13
exon 9
c.1253C>T
p.(Pro418Leu)
P418L
Not classifiedTo be validated
 2010-04-12
exon 9
c.1253C>A
p.(Pro418His )
P418H
Not classifiedTo be validated
 2010-04-12
exon 9
c.1244G>C
p.(Arg415Pro)
R415P
Not classifiedTo be validated
 2010-04-12
exon 9
c.1244G>A
p.(Arg415Gln)
R415Q
Not classifiedTo be validated
 2010-04-12
exon 9
c.1258G>C
p.(Gly420Arg)
G420R G>C
Not classifiedTo be validated
 2010-04-12
exon 9
c.1259G>A
p.(Gly420Glu)
G420E
Not classifiedTo be validated
 2010-04-12
exon 9
c.1256A>G
p.(Asp419Gly)
D419G
Not classifiedTo be validated
 2010-04-12
exon 9
c.1252C>A
p.(Pro418Thr)
P418T
Not classifiedTo be validated
 2010-04-12