Table 2 Pathogenic variants of the SOX5 gene case described in the ClinVar [21] and LOVD [22] databases

c.224_225del

(NM_006940.6)

p.(Gln75fs)

NC_000012.11:

g.24048772_24048773del

LAMSHF

Likely pathogenic

(22 June 2022)

c.352C > T

(NM_006940.6)

p.(Arg118Ter)

NC_000012.11:

g.23999046G > A

LAMSHF

Pathogenic

(18 October 2021)

c.405dup

(NM_006940.6)

p.(Lys136fs)

NC_000012.11:g.23998993dup

LAMSHF

Pathogenic

(1 August 2020)

c.433dup

(NM_006940.6)

p.(Thr145fs)

NC_000012.11:g.23998965dup

LAMSHF

Pathogenic

(25 October 2021)

c.442C > T

(NM_006940.6)

p.(Gln148Ter)

NC_000012.11:

g.23998956G > A

Not provided

Pathogenic

(23 October 2020)

c.518G > A

(NM_006940.6)

p.(Trp173Ter)

NC_000012.11:

g.23908622C > T

LAMSHF

Pathogenic

(5 August 2019)

c.519G > A

(NM_006940.6)

p.(Trp173Ter))

NC_000012.11:

g.23908621C > T

Not provided

Pathogenic

(1 September 2019)

c.559G > T

(NM_006940.6)

p.(Glu187Ter)

NC_000012.11:

g.23908581C > A

Intellectual disability

Likely pathogenic

(10 September 2020)

c.622C > T

(NM_006940.6)

p.(Gln208Ter)

NC_000012.11:

g.23893920G > A

LAMSHF

Pathogenic

(15 May 2018)

c.637C > T

(NM_006940.6)

p.(Arg213Ter)

NC_000012.11:

g.23893905G > A

LAMSHF

Pathogenic

(13 May 2021)

c.747_748del

(NM_006940.6)

p.(Arg250fs)

NC_000012.11:

g.23887680_23887681del

LAMSHF

Pathogenic

(5 August 2019)

c.755dup

(NM_006940.6)

p.(Gln253fs)

NC_000012.11:g.23887673dup

LAMSHF

Pathogenic

(19 June 2021)

c.757C > T

(NM_152989.3)

p.(Gln253Ter)

NC_000012.11:

g.23887632G > A

Not provided

Likely pathogenic

c.820C > T

(NM_006940.6)

p.(Gln274Ter)

NC_000012.11:

g.23818489G > A

LAMSHF

Pathogenic

(5 August 2019)

c.847C > T

(NM_152989.6)

p.(Gln283Ter)

NC_000012.11:

g.23818423G > A

Not provided

Pathogenic

c.959delC

(NM_006940.6)

p.(Pro320fs)

NC_000012.11:

g.23793806del

LAMSHF

Pathogenic

(10 August 2020)

c.1060G > T

(NM_006910.6)

p.(Gly354Ter)

NC_000012.11:

g.23757425C > A

LAMSHF

Pathogenic

(31 December 2017)

c.1381C > T

(NM_152989.3)

p.(Gln461Ter)

NC_000012.11:

g.23716260G > A

Not provided

Pathogenic

c.1411C > T

(NM_006940.6)

p.(Arg471Ter)

NC_000012.11:

g.23716269G > A

LAMSHF

Likely pathogenic

(7 September 2018)

c.1465dup

(NM_006940.6)

p.(Leu489fs)

NC_000012.11:g.23716215dup

LAMSHF

Pathogenic

(16 December 2019)

c.1477C > T

(NM_006940.6)

p.(Arg493Ter)

NC_000012.11:

g.23716203G > A

LAMSHF,

Pathogenic

(25 September 2019)

c.1600C > T

(NM_152989.3)

p.(Arg534Ter)

NC_000012.11:

g.23696277G > A

Not provided

Pathogenic

c.1613C > G

(NM_006940.6)

p.(Ser538Ter)

NC_000012.11:

g.23696303G > C

LAMSHF

Pathogenic

(23 September 2021)

c.1639C > T

(NM_006940.6)

p.(Arg547Ter)

NC_000012.11:

g.23696277G > A

Not provided

Pathogenic

(30 September 2021)

c.1659del

(NM_006940.6)

p.(Glu553fs)

NC_000012.11:

g.23696258del

Not provided

Pathogenic

(23 October 2020)

c.1782G > A

(NM_006940.6)

p.(Trp594Ter)

NC_000012.11:

g.23689593C > T

LAMSHF

Pathogenic

(5 August 2019)

c.1819G > T

(NM_006940.6)

p.(Glu607Ter)

NC_000012.11:

g.23689556C > A

LAMSHF

Pathogenic

(5 August 2019)

c.1977C > A

(NM_006940.6)

p.(Tyr659Ter)

NC_000012.11:

g.23689398G > T

Not provided

Likely pathogenic

(18 February 2022)