BANF1 — 31 ClinVar variants

All ClinVar germline BANF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.

11 Benign · 5 Likely benign · 15 Uncertain significance

Full BANF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

All BANF1 variants

Benign 11

c.123+109G>A Multiple submitters
c.-16-161G>A Multiple submitters
c.-16-293G>A Multiple submitters
c.-16-303T>C Multiple submitters
c.-16-48A>G Multiple submitters
c.-192G>C Multiple submitters Nestor-Guillermo progeria syndrome
c.-221T>G Multiple submitters Nestor-Guillermo progeria syndrome
c.*128C>A Multiple submitters Nestor-Guillermo progeria syndrome
c.*177G>A Multiple submitters Nestor-Guillermo progeria syndrome
p.Gly68= Multiple submitters Nestor-Guillermo progeria syndrome
c.124-37_124-31del Single submitter

Likely benign 5

c.*273C>G Multiple submitters Nestor-Guillermo progeria syndrome
c.-254G>T Single submitter Nestor-Guillermo progeria syndrome
c.-297G>A Single submitter Nestor-Guillermo progeria syndrome
c.-408C>T Single submitter Nestor-Guillermo progeria syndrome
c.*100C>T Single submitter Nestor-Guillermo progeria syndrome

Uncertain significance 15

c.-105G>A Single submitter Nestor-Guillermo progeria syndrome
c.-230C>T Single submitter Nestor-Guillermo progeria syndrome
c.-35A>T Single submitter Nestor-Guillermo progeria syndrome
c.-421G>A Single submitter Nestor-Guillermo progeria syndrome
c.-429G>C Single submitter Nestor-Guillermo progeria syndrome
c.-440A>G Single submitter Nestor-Guillermo progeria syndrome
c.-62A>G Single submitter Nestor-Guillermo progeria syndrome
c.-70T>G Single submitter Nestor-Guillermo progeria syndrome
c.-86G>A Single submitter Nestor-Guillermo progeria syndrome
c.*120T>A Single submitter Nestor-Guillermo progeria syndrome
c.*143T>A Single submitter Nestor-Guillermo progeria syndrome
c.*182T>C Single submitter Nestor-Guillermo progeria syndrome
c.*209T>G Single submitter Nestor-Guillermo progeria syndrome
c.*64T>A Single submitter Nestor-Guillermo progeria syndrome
p.Thr3= Single submitter Nestor-Guillermo progeria syndrome