Project HERA

MLH1 variants

Every MLH1 variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.

33 variants

MLH1 variants

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

33 shown

Variant

Protein change

Classification

MLH1 NM_000249.4:c.2044_2045del

NP_000240.1:p.(M682Vfs*11)

MLH1 NM_000249.4:c.549T>A

NP_000240.1:p.(Y183*)

MLH1 NM_000249.4:c.1732-2A>G

NP_000240.1:p.?

MLH1 NM_000249.4:c.1732-2A>G

NP_000240.1:p.?

MLH1 NM_000249.4:c.1039-6dup

NP_000240.1:p.?

MLH1 NM_000249.4:c.1039-6dup

NP_000240.1:p.?

MLH1 NM_000249.4:c.1558+4C>T

NP_000240.1:p.?

MLH1 NM_000249.4:c.1039-6dup

NP_000240.1:p.?

MLH1 NM_000249.3:c.676C>T

NP_000240.1:p.(R226*)

MLH1 NM_000249.3:c.1738G>A

NP_000240.1:p.(A580T)

MLH1 NM_000249.3:c.1177C>A

NP_000240.1:p.(L393I)

MLH1 NM_000249.3:c.551C>G

NP_000240.1:p.(S184*)

MLH1 NM_000249.4:c.1039-25T>A

NP_000240.1:p.?

MLH1 NM_000249.4:c.1344G>T

NP_000240.1:p.(E448D)

MLH1 NM_000249.4:c.1989G>A

NP_000240.1:p.(E663=)

MLH1 NM_000249.4:c.381-1G>A

NP_000240.1:p.?

MLH1 NM_000249.3:c.1433A>G

NP_000240.1:p.(D478G)

MLH1 NM_000249.4:c.1515T>C

NP_000240.1:p.(S505=)

MLH1 NM_000249.4:c.307-1G>A

NP_000240.1:p.?

MLH1 NM_000249.4:c.342_347del

NP_000240.1:p.(I115_T116del)

MLH1 NM_000249.4:c.1875T>G

NP_000240.1:p.(Y625*)

MLH1 NM_000249.4:c.1637A>G

NP_000240.1:p.(K546R)

MLH1 NM_000249.3:c.1655C>T

NP_000240.1:p.(T552I)

MLH1 NM_000249.4:c.2041G>A

NP_000240.1:p.(A681T)

MLH1 NM_000249.4:c.1094G>A

NP_000240.1:p.(S365N)

MLH1 NM_000249.4:c.222T>C

NP_000240.1:p.(D74=)

MLH1 NM_000249.4:c.677G>A

NP_000240.1:p.(R226Q)

MLH1 NM_000249.4:c.688G>C

NP_000240.1:p.(E230Q)

MLH1 NM_000249.4:c.1515T>C

NP_000240.1:p.(S505=)

MLH1 NM_000249.4:c.1039-6dup

NP_000240.1:p.?

MLH1 NM_000249.4:c.290A>G

NP_000240.1:p.(Y97C)

MLH1 NM_000249.4:c.1682A>G

NP_000240.1:p.(Y561C)

MLH1 NM_000249.4:c.1990-23G>T

NP_000240.1:p.?