PLCG2 (NM_002661.3) sequence variants

Editor(s): Ivona AKSENTIJEVICH   

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Total current number of sequence variants for PLCG2 : 13

* 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
D59G
exon 2
c.176A>G
p.(Asp59Gly)Uncertain significance (VOUS)To be validated
 2019-05-13
I169V
exon 6
c.505A>G
p.(Ile169Val)Uncertain significance (VOUS)To be validated
 2019-05-13
P236L
exon 9
c.707C>T
p.(Pro236Leu)Uncertain significance (VOUS)To be validated
 2019-05-13
1468-1G>T
intron 15
c.1468-1G>T
p.?Likely pathogenicTo be validated
 2019-05-13
I509T
exon 16
c.1526T>C
p.(Ile509Thr)Uncertain significance (VOUS)To be validated
 2019-05-13
del_Exon19_5.9kb
exon 19
c.1935-521_2054+5385del
p.(Trp646_Arg685del)Not classifiedTo be validated
 2015-10-01
del_Exon19_4.8kb
exon 19
c.1935-322_2054+4100del
p.(Trp646_Arg685del)Not classifiedTo be validated
 2015-10-01
del_Exon20-22
exon 20
c.2055-1396_2417+2699del
p.(Ala686_Arg685del)Not classifiedTo be validated
 2015-10-01
S707Y
exon 20
c.2120C>A
p.(Ser707Tyr)Not classifiedTo be validated
 2012-12-07
N798S
exon 22
c.2393A>G
p.(Asn798Ser)Not classifiedTo be validated
 2019-05-13
E833K
exon 23
c.2497G>A
p.(Glu833Lys)Not classifiedTo be validated
 2017-02-08
L848P
exon 24
c.2543T>C
p.(Leu848Pro)Not classifiedTo be validated
 2019-01-10
*35T>C
3UT
c.*35T>C
p.?Not classifiedTo be validated
 2019-05-13