Project HERA

ZRSR2 variants

Every ZRSR2 variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.

6 variants

ZRSR2 variants

Newest first. Each row opens the full report, criterion by criterion.

6 shown

Variant

Protein change

Classification

ZRSR2 NM_005089.3:c.983_984insGAA

NP_005080.1:p.(F328delinsLN)

ZRSR2 NM_005089.3:c.398_399del

NP_005080.1:p.(E133Gfs*11)

Likely Pathogenic

ZRSR2 NM_005089.3:c.758T>C

NP_005080.1:p.(V253A)

ZRSR2 NM_005089.3:c.617T>C

NP_005080.1:p.(F206S)

ZRSR2 NM_005089.3:c.812A>G

NP_005080.1:p.(Y271C)

ZRSR2 NM_005089.3:c.376C>T

NP_005080.1:p.(R126*)

Likely Pathogenic