Table 2 Pathogenic (class 5) and likely pathogenic (class 4) PMS2 variants identified in our cohort

c.23 + 1G > A

p.(?)

587,782,074

LP, P / NR

LP

1 (1)

c.130G > C

p.(Glu44Gln)

786,202,669

VUS / NR

LP

16 (4)

c.137G > A

p.(Ser46Asn)

121,434,629

LP, P / VUS*

LP

¤

c.537 + 1G > T

r.[=], [354_537del, 354_586del, 354_589del] p.(Ser118Argfs*22), p.(Asp119Argfs*52) p.(Ser118Argfs*52)

863,224,450

NR / NR

c.537 + 1G > C

c.537 + 1G > A

LP

P

6 (2)

c.598del

p.(Val200*)

no

P / NA

P

24 (7)

c.631 C > T

p.(Arg211*)

760,228,510

P / P, VUS*

P

14 (5)

c.736_741delins11

p.(Pro246Cysfs*3)

267,608,150

P / P*

P

3 (1)

c.803 + 1_804-1)_(903 + 1_904-1)del

p.(Tyr268*)

Del ex8

no

P / P*

P

9 (2)

c.823 C > T

p.(Gln275*)

587,780,062

P / P

P

27 (3)

c.861_864del

p.(Arg287Serfs*19)

267,608,154

P / P*

P

3 (2)

c.989-1G > T

r.[=, 989_1144del, 989_1015del] p.(Glu330_Glu381del; Glu330_Pro338del)

587,780,064

P / P*

P

204 (58)

c.1112_1113delinsTTTA

p.(Asn371Ilefs*2)

587,779,326

P / P*

P

1 (1)

c.1239dup

p.(Asp414Argfs*44)

758,048,239

P / P

P

1 (1)

c.1261 C > T

p.(Arg421*)

587,778,617

P / LP, P*

P

1 (1)

c.1345 C > T

r.[=, 1345c > t]

p.(Gln449*)

876,661,256

P / NR

P

1 (1)

c.(1144 + 1_1145-1)_(2174 + 1_2175-1)dup

r.[=, 1145_2174dup]/ p.(Pro726*)

Dup ex11-12

no

LP / P*

P

34 (12)

c.1738 A > T

p.(Lys580*)

267,608,169

P / P*

P

1 (1)

c.1831dupA

p.(Ile611Asnfs*2)

63,750,250

P / P*

P

3 (2)

c.1882 C > T

p.(Arg628*)

63,750,451

P / VUS, P*

P

1 (1)

c.1939 A > T

p.(Lys647*)

201,451,115

P / P*

P

1 (1)

c.1970delA

p.(Asn657Ilefs*8)

1,064,794,566

LP, P / NR

P

19 (3)

c.2041 C > T

p.(Gln681*)

1,782,465,728

P / NR

P

¤

c.2113G > A§

p.(Glu705Lys)

267,608,161

VUS, LP, P / P, VUS*

LP

45 (10)

c.2156delA

p.(Gln719Argfs*6)

786,201,062

P / P

P

15 (5)

c.(2174 + 1_2175-1)_(2445 + 1_2446-1)del

p.(Pro726*)

Del ex13-14

No

NR / NR

P

1 (1)

c.2192_2196del

p.(Leu731Cysfs*)

63,750,695

P / P*

P

4 (1)

c.2382dupT

p.(Gly795Trpfs*29)

1,231,406,078

P / NR

P

8 (2)

c.2404 C > T

p.(Arg802*)

63,751,466

P / P*

P

1 (1)

c.2413 C > T

p.(Gln805*)

1,554,293,810

P / NA

P

¤