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. 2023 Jul 27;110(8):1249–1265. doi: 10.1016/j.ajhg.2023.06.014

Table 2.

Number of P/LP variants detected per gene in HOP

Gene Number of P/LP variants
CHEK2 221
ATM 78
MITF 70
BRCA2 55
APC 52
BRCA1 44
BRIP1 33
PMS2 28
PALB2 26
MSH6 20
RET 11
MUTYH 8
NBN 8
RAD51C 8
RAD51D 5
CDKN2A 4
MSH2 3
CDH1 2
MLH1 2
PTEN 2
TSC2 2
SMAD4 1
TP53 1
BAP1 0
BMPR1A 0
CDK4 0
MEN1 0
POLD1 0
RB1 0
STK11 0
TSC1 0
LDLR 46

P/LP, pathogenic or likely pathogenic