Project HERA

SETD2 variants

Every SETD2 variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.

6 variants

SETD2 variants

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

6 shown

Variant

Protein change

Classification

SETD2 NM_014159.6:c.6631G>T

NP_054878.5:p.(G2211*)

Likely Pathogenic

SETD2 NM_014159.6:c.4260del

NP_054878.5:p.(E1420Dfs*12)

Likely Pathogenic

SETD2 NM_014159.6:c.5746C>T

NP_054878.5:p.(P1916S)

SETD2 NM_014159.6:c.4264C>T

NP_054878.5:p.(Q1422*)

SETD2 NM_014159.6:c.7572dup

NP_054878.5:p.(K2525*)

SETD2 NM_014159.6:c.850del

NP_054878.5:p.(S284Pfs*17)

Likely Pathogenic