Project HERA

PTCH1 variants

Every PTCH1 variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.

14 variants

PTCH1 variants

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

14 shown

Variant

Protein change

Classification

PTCH1 NM_000264.4:c.2588G>A

NP_000255.2:p.(W863*)

Likely Pathogenic

PTCH1 NM_000264.5:c.324A>G

NP_000255.2:p.(I108M)

PTCH1 NM_000264.5:c.2215_2216delinsTT

NP_000255.2:p.(H739F)

PTCH1 NM_000264.5:c.1913G>A

NP_000255.2:p.(R638H)

PTCH1 NM_000264.5:c.113G>A

NP_000255.2:p.(G38E)

PTCH1 NM_000264.5:c.2438C>T

NP_000255.2:p.(P813L)

PTCH1 NM_000264.5:c.1641C>T

NP_000255.2:p.(S547=)

PTCH1 NM_000264.5:c.4251C>T

NP_000255.2:p.(H1417=)

PTCH1 NM_000264.5:c.3141T>G

NP_000255.2:p.(L1047=)

PTCH1 NM_000264.5:c.1085C>T

NP_000255.2:p.(T362I)

PTCH1 NM_000264.5:c.431G>A

NP_000255.2:p.(R144H)

PTCH1 NM_000264.5:c.536T>C

NP_000255.2:p.(L179P)

PTCH1 NM_000264.5:c.4033C>G

NP_000255.2:p.(R1345G)

PTCH1 NM_000264.5:c.-9_-4del

NP_000255.2:p.?