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

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

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