Project HERA

NOTCH3 variants

Every NOTCH3 variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.

8 variants

NOTCH3 variants

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

8 shown

Variant

Protein change

Classification

NOTCH3 NM_000435.2:c.3192A>T

NP_000426.2:p.(E1064D)

NOTCH3 NM_000435.2:c.3278G>T

NP_000426.2:p.(C1093F)

Likely Pathogenic

NOTCH3 NM_000435.2:c.5032G>T

NP_000426.2:p.(E1678*)

NOTCH3 NM_000435.2:c.3452G>A

NP_000426.2:p.(G1151E)

NOTCH3 NM_000435.2:c.5946G>T

NP_000426.2:p.(E1982D)

NOTCH3 NM_000435.2:c.2299C>A

NP_000426.2:p.(R767S)

NOTCH3 NM_000435.2:c.3257A>C

NP_000426.2:p.(D1086A)

NOTCH3 NM_000435.2:c.4688C>T

NP_000426.2:p.(P1563L)