PLCG2 (NM_002661.3) sequence variants

Editor(s): Ivona AKSENTIJEVICH   

Home Page Tabular list Sequences Download Useful links Statistics Contact Submit a novel sequence variant Submit a novel complex allele

🔎

Total current number of sequence variants for PLCG2 : 13

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

HGVS sequence name
HGVS protein name
Classification *
Status *
Simple variant
Complex alleles
exon 2c.176A>Gp.(Asp59Gly)Uncertain significance (VOUS)To be validated
 2019-05-13
exon 6c.505A>Gp.(Ile169Val)Uncertain significance (VOUS)To be validated
 2019-05-13
exon 9c.707C>Tp.(Pro236Leu)Uncertain significance (VOUS)To be validated
 2019-05-13
intron 15c.1468-1G>Tp.?Likely pathogenicTo be validated
 2019-05-13
exon 16c.1526T>Cp.(Ile509Thr)Uncertain significance (VOUS)To be validated
 2019-05-13
exon 19c.1935-521_2054+5385delp.(Trp646_Arg685del)Not classifiedTo be validated
 2015-10-01
exon 19c.1935-322_2054+4100delp.(Trp646_Arg685del)Not classifiedTo be validated
 2015-10-01
exon 20c.2055-1396_2417+2699delp.(Ala686_Arg685del)Not classifiedTo be validated
 2015-10-01
exon 20c.2120C>Ap.(Ser707Tyr)Not classifiedTo be validated
 2012-12-07
exon 22c.2393A>Gp.(Asn798Ser)Not classifiedTo be validated
 2019-05-13
exon 23c.2497G>Ap.(Glu833Lys)Not classifiedTo be validated
 2017-02-08
exon 24c.2543T>Cp.(Leu848Pro)Not classifiedTo be validated
 2019-01-10
3UTc.*35T>Cp.?Not classifiedTo be validated
 2019-05-13