Project HERA

TSC2 variants

Every TSC2 variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.

18 variants

TSC2 variants

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

18 shown

Variant

Protein change

Classification

TSC2 NM_000548.5:c.2476C>A

NP_000539.2:p.(L826M)

TSC2 NM_000548.5:c.1292C>T

NP_000539.2:p.(A431V)

TSC2 NM_000548.5:c.2476C>A

NP_000539.2:p.(L826M)

TSC2 NM_000548.4:c.5335del

NP_000539.2:p.(Q1779Rfs*47)

TSC2 NM_000548.4:c.3796_3797del

NP_000539.2:p.(L1266Afs*55)

Likely Pathogenic

TSC2 NM_000548.5:c.3884-23C>T

NP_000539.2:p.?

TSC2 NM_000548.4:c.29G>T

NP_000539.2:p.(G10V)

TSC2 NM_000548.4:c.4751T>C

NP_000539.2:p.(L1584P)

TSC2 NM_000548.4:c.3715G>C

NP_000539.2:p.(E1239Q)

TSC2 NM_000548.4:c.981G>T

NP_000539.2:p.(M327I)

TSC2 NM_000548.5:c.3117G>A

NP_000539.2:p.(T1039=)

TSC2 NM_000548.4:c.3581G>T

NP_000539.2:p.(W1194L)

TSC2 NM_000548.5:c.4006-8C>T

NP_000539.2:p.?

TSC2 NM_000548.5:c.5186G>A

NP_000539.2:p.(R1729H)

TSC2 NM_000548.5:c.729C>G

NP_000539.2:p.(L243=)

TSC2 NM_000548.5:c.97G>C

NP_000539.2:p.(G33R)

TSC2 NM_000548.5:c.3884-17C>G

NP_000539.2:p.?

TSC2 NM_000548.5:c.2356-15T>A

NP_000539.2:p.?