Project HERA

VHL variants

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

7 variants

VHL variants

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

7 shown

Variant

Protein change

Classification

VHL NM_000551.4:c.541G>A

NP_000542.1:p.(V181I)

VHL NM_000551.3:c.434A>T

NP_000542.1:p.(Q145L)

VHL NM_000551.3:c.241C>T

NP_000542.1:p.(P81S)

VHL NM_000551.3:c.104C>T

NP_000542.1:p.(A35V)

VHL NM_000551.3:c.445G>T

NP_000542.1:p.(A149S)

Likely Pathogenic

VHL NM_000551.3:c.154G>A

NP_000542.1:p.(E52K)

VHL NM_000551.3:c.-77C>T

NP_000542.1:p.?