Gene HGVS Reference
Spliceogenic variants experimentally validated or inferred to abrogate a BP site Spliceogenic variants experimentally validated or inferred to abrogate a BP site Spliceogenic variants experimentally validated or inferred to abrogate a BP site
BRCA1 LRG_292t1:c.135-18T>G Wappenschmidt et al. (2012)
BRCA1 LRG_292t1:c.135-27T>A Leman et al. (2020)
BRCA1 LRG_292t1:c.4358-31_4358-27del Leman et al. (2020)
BRCA1 LRG_292t1:c.4358-33T>G Leman et al. (2020)
BRCA1 LRG_292t1:c.5153-26A>G Leman et al. (2020)
BRCA1 LRG_292t1:c.5153-26A>T Leman et al. (2020)
BRCA1 LRG_292t1:c.5153-27_5153-23del Leman et al. (2020)
BRCA1 LRG_292t1:c.5407-25T>A Leman et al. (2020)
MLH1 LRG_216t1:c.1732-19T>A Leman et al. (2020)
RAD51C LRG_314t1:c.572-23_572-20del Leman et al. (2020)
RB1 LRG_517t1:c.2326-26A>C Houdayer et al. (2008), K. Zhang et al. (2008)
RB1 LRG_517t1:c.2326-26A>G Houdayer et al. (2008)
XPC LRG_472t1:c.413-9T>A Khan et al. (2004), Khan et al. (2010)
XPC LRG_472t1:c.413-24A>G Khan et al. (2004), Khan et al. (2010)
Deep intronic variants that activate a pseudoexon Deep intronic variants that activate a pseudoexon Deep intronic variants that activate a pseudoexon
APC LRG_130t1:c.532-941G>A Spier et al. (2012)
APC LRG_130t1:c.1408+731C>T Spier et al. (2012)
APC LRG_130t1:c.1408+735A>T Spier et al. (2012)
ATM U82828.1(ATM_v001):c.1236-405C>T§ Cavalieri, Pozzi, Gatti, and Brusco (2013)
ATM LRG_135t1:c.2839-581_2839-578del Pagani et al. (2002)
ATM U82828.1(ATM_v001):c.3994-159A>G†† Coutinho et al. (2005)
ATM LRG_135t1:c.5763-1050A>G‡‡ McConville et al. (1996); Sutton et al. (2004)
BRCA1 LRG_292t1:c.4185+4105C>T Montalban et al. (2019)
BRCA2 LRG_293t1:c.6937+594T>G Anczukow et al. (2012)
MSH2 LRG_218t1:c.212-478T>G Clendenning et al. (2011)
NF1 LRG_214t1:c.288+1137C>T Svaasand, Engebretsen, Ludvigsen, Brechan, and Sjursen (2015)
NF2 LRG_511t1:c.1447-233T>A§§ Castellanos et al. (2013)
RB1 LRG_517t1:c.2490-1398A>G¶¶ Dehainault et al. (2007)