TERF2 — 59 ClinVar variants
All ClinVar germline TERF2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 27 flagged for review →
14 Benign · 1 Benign/Likely benign · 17 Likely benign · 27 Uncertain significance
Full TERF2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 27
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors lean, ClinVar uncertain 26
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- TERF2 p.Ala291Ser Uncertain significance Single submitter
- TERF2 p.Ala292Thr Uncertain significance Single submitter
- TERF2 p.Ala332Val Uncertain significance Single submitter
- TERF2 p.Ala367Thr Uncertain significance Single submitter
- TERF2 p.Ala477Thr Uncertain significance Single submitter
- TERF2 p.Asn420Ser Uncertain significance Single submitter
- TERF2 p.Asn445Lys Uncertain significance Single submitter
- TERF2 p.Asp376Gly Uncertain significance Single submitter
- TERF2 p.Gln147Arg Uncertain significance Single submitter
- TERF2 p.Gln301Arg Uncertain significance Single submitter
- TERF2 p.Gln505Glu Uncertain significance Single submitter
- TERF2 p.Glu313Gly Uncertain significance Single submitter
- TERF2 p.Glu424Lys Uncertain significance Single submitter
- TERF2 p.Gly339Asp Uncertain significance Single submitter
- TERF2 p.Gly418Arg Uncertain significance Single submitter
- TERF2 p.Leu368Phe Uncertain significance Single submitter
- TERF2 p.Leu392Pro Uncertain significance Single submitter
- TERF2 p.Lys297Arg Uncertain significance Single submitter
- TERF2 p.Pro441Arg Uncertain significance Single submitter
- TERF2 p.Ser161Cys Uncertain significance Single submitter
-
TERF2 p.Ser294Arg
Uncertain significance
Single submitter
TERF2-related disorder
- TERF2 p.Ser390Leu Uncertain significance Single submitter
- TERF2 p.Val145Ile Uncertain significance Single submitter
- TERF2 p.Val356Asp Uncertain significance Single submitter
- TERF2 p.Val435Ile Uncertain significance Single submitter
- TERF2 p.Val459Ile Uncertain significance Single submitter
Predictors split 1
The independent predictors disagree with each other — read with care.
All TERF2 variants
Benign 14
- c.1341-42T>C Multiple submitters
- c.1426+95C>T Multiple submitters
- c.380-5C>T Multiple submitters
- c.840+145C>T Multiple submitters
- c.947+27G>A Multiple submitters
- c.*142G>A Multiple submitters
- c.*159C>T Multiple submitters
- c.*220A>G Multiple submitters
- p.Leu419Val Multiple submitters
- p.Val307= Multiple submitters
- c.1427-195G>T Single submitter
- c.1427-250G>C Single submitter
- c.606+241T>C Single submitter
- c.*98dup Single submitter
Benign/Likely benign 1
- p.Pro322Gln Multiple submitters
Likely benign 17
- c.1470+14C>A Single submitter
- c.1471-16T>C Single submitter
- c.475+20C>T Single submitter
- c.693+9G>A Single submitter
- c.841-20_841-18del Single submitter
- c.948-80A>C Single submitter
- c.*98del Single submitter
- p.Ala315Thr Single submitter
- p.Ala361Val Single submitter
- p.Asp385= Single submitter
- p.Glu498Lys Single submitter
- p.Leu168= Single submitter
- p.Leu362= Single submitter
- p.Lys447= Single submitter
- p.Met327Ile Single submitter
- p.Pro383= Single submitter
- p.Ser497= Single submitter
Uncertain significance 27
- p.Ala291Ser Single submitter ⚠
- p.Ala292Thr Single submitter ⚠
- p.Ala332Val Single submitter ⚠
- p.Ala367Thr Single submitter ⚠
- p.Ala477Thr Single submitter ⚠
- p.Asn420Ser Single submitter ⚠
- p.Asn445Lys Single submitter ⚠
- p.Asp376Gly Single submitter ⚠
- p.Gln147Arg Single submitter ⚠
- p.Gln301Arg Single submitter ⚠
- p.Gln505Glu Single submitter ⚠
- p.Glu313Gly Single submitter ⚠
- p.Glu424Lys Single submitter ⚠
- p.Gly339Asp Single submitter ⚠
- p.Gly418Arg Single submitter ⚠
- p.Leu368Phe Single submitter ⚠
- p.Leu392Pro Single submitter ⚠
- p.Lys211Asn Single submitter ⚠
- p.Lys297Arg Single submitter ⚠
- p.Pro441Arg Single submitter ⚠
- p.Ser161Cys Single submitter ⚠
- p.Ser294Arg Single submitter TERF2-related disorder ⚠
- p.Ser390Leu Single submitter ⚠
- p.Val145Ile Single submitter ⚠
- p.Val356Asp Single submitter ⚠
- p.Val435Ile Single submitter ⚠
- p.Val459Ile Single submitter ⚠