TERF2IP — 787 ClinVar variants

All ClinVar germline TERF2IP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 520 flagged for review →

1 Likely pathogenic · 8 Conflicting · 10 Benign · 1 Benign/Likely benign · 247 Likely benign · 520 Uncertain significance

Full TERF2IP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 520

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 agree, ClinVar conflicts 5

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 268

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 268

Predictors split 247

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 247

All TERF2IP variants

Likely pathogenic 1

c.670+1G>A Single submitter

Conflicting classifications of pathogenicity 8

p.Arg259Gln Single submitter ⚠
p.Glu256Gln Single submitter ⚠
p.Glu379Asp Single submitter ⚠
p.Gly60Arg Single submitter ⚠
p.His130Leu Single submitter ⚠
p.Lys305Asn Single submitter ⚠
p.Pro103Ser Single submitter ⚠
p.Ser111Pro Single submitter ⚠

Benign 10

c.795+97G>C Multiple submitters
c.796-205C>T Multiple submitters
c.796-247C>T Multiple submitters
c.-25C>A Multiple submitters
c.-38C>G Multiple submitters
c.-82G>T Multiple submitters
p.Lys324Glu Multiple submitters
c.671-100del Single submitter
c.795+39C>T Single submitter
c.796-41C>G Single submitter

Benign/Likely benign 1

c.795+19C>A Multiple submitters

Likely benign 247

p.Ala249= Multiple submitters
p.Ala351= Multiple submitters
p.Ala4= Multiple submitters
p.Ala98= Multiple submitters
p.Asn151= Multiple submitters
p.Asn326= Multiple submitters
p.Asp141= Multiple submitters
p.Asp272= Multiple submitters
p.Gln308= Multiple submitters
p.Glu150= Multiple submitters
p.Glu237= Multiple submitters
p.Glu241= Multiple submitters
p.Glu299= Multiple submitters
p.Gly102= Multiple submitters
p.Gly121= Multiple submitters
p.Gly358= Multiple submitters
p.Gly49= Multiple submitters
p.Gly68= Multiple submitters
p.His130= Multiple submitters
p.Ile134= Multiple submitters
p.Ile46= Multiple submitters
p.Ile79= Multiple submitters
p.Leu196= Multiple submitters
p.Leu197= Multiple submitters
p.Leu337= Multiple submitters
p.Leu381= Multiple submitters
p.Lys181= Multiple submitters
p.Lys399= Multiple submitters
p.Phe31= Multiple submitters
p.Phe336= Multiple submitters
p.Phe385= Multiple submitters
p.Pro103= Multiple submitters
p.Pro11= Multiple submitters
p.Pro115= Multiple submitters
p.Pro14= Multiple submitters
p.Pro155= Multiple submitters
p.Pro59= Multiple submitters
p.Ser111= Multiple submitters
p.Ser154= Multiple submitters
p.Ser157= Multiple submitters
p.Ser30= Multiple submitters
p.Ser347= Multiple submitters
p.Thr173= Multiple submitters
p.Tyr184= Multiple submitters
c.670+14G>T Single submitter
c.670+16G>T Single submitter
c.670+17C>T Single submitter
c.670+20G>C Single submitter
c.670+25C>A Single submitter
c.670+8G>A Single submitter
c.671-17G>T Single submitter
c.795+50T>C Single submitter
c.796-4C>G Single submitter
c.-25C>T Single submitter
c.-35G>A Single submitter
c.*49A>C Single submitter
p.Ala106= Single submitter
p.Ala107= Single submitter
p.Ala119= Single submitter
p.Ala122= Single submitter
p.Ala123= Single submitter
p.Ala131= Single submitter
p.Ala131Thr Single submitter
p.Ala143= Single submitter
p.Ala152= Single submitter
p.Ala162= Single submitter
p.Ala2= Single submitter
p.Ala200= Single submitter
p.Ala219= Single submitter
p.Ala220= Single submitter
p.Ala257= Single submitter
p.Ala348= Single submitter
p.Ala38= Single submitter
p.Ala61= Single submitter
p.Ala65= Single submitter
p.Ala72= Single submitter
p.Ala74= Single submitter
p.Arg100= Single submitter
p.Arg129= Single submitter
p.Arg133= Single submitter
p.Arg189= Single submitter
p.Arg23= Single submitter
p.Arg259= Single submitter
p.Arg319= Single submitter
p.Arg34= Single submitter
p.Arg355= Single submitter
p.Arg392= Single submitter
p.Arg397= Single submitter
p.Arg40= Single submitter
p.Arg41= Single submitter
p.Arg55= Single submitter
p.Arg93= Single submitter
p.Asn246= Single submitter
p.Asn339= Single submitter
p.Asn389= Single submitter
p.Asp10= Single submitter
p.Asp138= Single submitter
p.Asp140= Single submitter
p.Asp182= Single submitter
p.Asp199= Single submitter
p.Asp216= Single submitter
p.Asp24= Single submitter
p.Asp267= Single submitter
p.Asp290= Single submitter
p.Asp328= Single submitter
p.Asp357= Single submitter
p.Asp366= Single submitter
p.Gln128= Single submitter
p.Gln174= Single submitter
p.Gln178= Single submitter
p.Gln191= Single submitter
p.Gln207= Single submitter
p.Gln294= Single submitter
p.Gln354= Single submitter
p.Gln365= Single submitter
p.Gln57= Single submitter
p.Gln66= Single submitter
p.Gln82= Single submitter
p.Glu124= Single submitter
p.Glu192= Single submitter
p.Glu215= Single submitter
p.Glu224= Single submitter
p.Glu248= Single submitter
p.Glu256= Single submitter
p.Glu260= Single submitter
p.Glu298= Single submitter
p.Glu375= Single submitter
p.Glu379= Single submitter
p.Glu73= Single submitter
p.Glu89= Single submitter
p.Glu95Asp Single submitter
p.Gly110= Single submitter
p.Gly116= Single submitter
p.Gly13= Single submitter
p.Gly132= Single submitter
p.Gly160= Single submitter
p.Gly190= Single submitter
p.Gly198= Single submitter
p.Gly223= Single submitter
p.Gly26= Single submitter
p.Gly312= Single submitter
p.Gly50= Single submitter
p.Gly60= Single submitter
p.Gly76= Single submitter
p.His16= Single submitter
p.His175= Single submitter
p.His187= Single submitter
p.His193= Single submitter
p.His276= Single submitter
p.His48= Single submitter
p.Ile144= Single submitter
p.Ile243= Single submitter
p.Ile368= Single submitter
p.Ile368Leu Single submitter
p.Ile84= Single submitter
p.Leu101= Single submitter
p.Leu118= Single submitter
p.Leu145= Single submitter
p.Leu163= Single submitter
p.Leu172= Single submitter
p.Leu180= Single submitter
p.Leu185= Single submitter
p.Leu188= Single submitter
p.Leu20= Single submitter
p.Leu233= Single submitter
p.Leu254= Single submitter
p.Leu321= Single submitter
p.Leu329= Single submitter
p.Leu343= Single submitter
p.Leu42= Single submitter
p.Leu45= Single submitter
p.Leu47= Single submitter
p.Leu64= Single submitter
p.Leu71= Single submitter
p.Leu85= Single submitter
p.Lys149= Single submitter
p.Lys165= Single submitter
p.Lys186= Single submitter
p.Lys194= Single submitter
p.Lys208= Single submitter
p.Lys210= Single submitter
p.Lys212= Single submitter
p.Lys228= Single submitter
p.Lys324= Single submitter
p.Lys384= Single submitter
p.Lys39= Single submitter
p.Lys9= Single submitter
p.Phe136= Single submitter
p.Phe273= Single submitter
p.Phe78= Single submitter
p.Pro127= Single submitter
p.Pro201= Single submitter
p.Pro204= Single submitter
p.Pro217= Single submitter
p.Pro225= Single submitter
p.Pro231= Single submitter
p.Pro234= Single submitter
p.Pro270= Single submitter
p.Pro285= Single submitter
p.Pro309= Single submitter
p.Pro35= Single submitter
p.Pro37= Single submitter
p.Pro67= Single submitter
p.Ser105= Single submitter
p.Ser156= Single submitter
p.Ser17= Single submitter
p.Ser171= Single submitter
p.Ser176= Single submitter
p.Ser179= Single submitter
p.Ser18= Single submitter
p.Ser205= Single submitter
p.Ser222= Single submitter
p.Ser269= Single submitter
p.Ser28= Single submitter
p.Ser307= Single submitter
p.Ser340= Single submitter
p.Ser36= Single submitter
p.Ser363= Single submitter
p.Ser43= Single submitter
p.Ser75= Single submitter
p.Ser80= Single submitter
p.Thr109= Single submitter
p.Thr137= Single submitter
p.Thr15= Single submitter
p.Thr159= Single submitter
p.Thr331= Single submitter
p.Thr333= Single submitter
p.Thr346= Single submitter
p.Thr44= Single submitter
p.Thr52= Single submitter
p.Thr81= Single submitter
p.Tyr147= Single submitter
p.Tyr195= Single submitter
p.Tyr359= Single submitter
p.Tyr83= Single submitter
p.Val142= Single submitter
p.Val148= Single submitter
p.Val22= Single submitter
p.Val239= Single submitter
p.Val264Ile Single submitter
p.Val266= Single submitter
p.Val306= Single submitter
p.Val311= Single submitter
p.Val382= Single submitter
p.Val390= Single submitter
p.Val53Leu Single submitter
p.Val88= Single submitter

Uncertain significance 520

Showing the top 300 by review status; the full set is in the sitemap.

p.Ala123Gly Multiple submitters ⚠
p.Ala200Gly Multiple submitters ⚠
p.Ala387Val Multiple submitters ⚠
p.Ala61Thr Multiple submitters ⚠
p.Ala65Thr Multiple submitters ⚠
p.Arg133Gln Multiple submitters ⚠
p.Arg378Ser Multiple submitters ⚠
p.Arg392Gln Multiple submitters ⚠
p.Arg397Gln Multiple submitters ⚠
p.Asp141Asn Multiple submitters ⚠
p.Asp369Tyr Multiple submitters ⚠
p.Asp374His Multiple submitters ⚠
p.Asp86Tyr Multiple submitters ⚠
p.Gln174His Multiple submitters ⚠
p.Gln365Glu Multiple submitters ⚠
p.Gln388Arg Multiple submitters ⚠
p.Gln66Arg Multiple submitters ⚠
p.Glu120Ala Multiple submitters ⚠
p.Glu124Lys Multiple submitters ⚠
p.Glu192Asp Multiple submitters ⚠
p.Glu237Gln Multiple submitters ⚠
p.Glu248Asp Multiple submitters ⚠
p.Glu260Ala Multiple submitters ⚠
p.Glu263Gly Multiple submitters ⚠
p.Glu89Asp Multiple submitters ⚠
p.Glu92Gly Multiple submitters ⚠
p.Gly102Val Multiple submitters ⚠
p.Gly116Arg Multiple submitters ⚠
p.Gly132Val Multiple submitters ⚠
p.Gly49Ser Multiple submitters ⚠
p.His16Tyr Multiple submitters ⚠
p.Ile315Thr Multiple submitters ⚠
p.Ile368Met Multiple submitters ⚠
p.Ile368Val Multiple submitters ⚠
p.Ile79Asn Multiple submitters ⚠
p.Leu209Val Multiple submitters ⚠
p.Leu254Arg Multiple submitters ⚠
p.Leu47Pro Multiple submitters ⚠
p.Lys372Arg Multiple submitters ⚠
p.Lys372Asn Multiple submitters ⚠
p.Met167Ile Multiple submitters ⚠
p.Met253Ile Multiple submitters ⚠
p.Met29Leu Multiple submitters ⚠
p.Pro103Leu Multiple submitters ⚠
p.Pro103Thr Multiple submitters ⚠
p.Pro127Ser Multiple submitters ⚠
p.Pro201Leu Multiple submitters ⚠
p.Pro217Gln Multiple submitters ⚠
p.Pro225Ser Multiple submitters ⚠
p.Pro284Leu Multiple submitters ⚠
p.Pro59Ser Multiple submitters ⚠
p.Ser105Thr Multiple submitters ⚠
p.Ser111Trp Multiple submitters ⚠
p.Ser171Leu Multiple submitters ⚠
p.Ser206Cys Multiple submitters ⚠
p.Ser206Phe Multiple submitters ⚠
p.Ser206Tyr Multiple submitters ⚠
p.Ser75Ala Multiple submitters ⚠
p.Thr173Arg Multiple submitters ⚠
p.Thr331Ala Multiple submitters ⚠
p.Val255Ala Multiple submitters ⚠
p.Val255Met Multiple submitters ⚠
p.Val264Ala Multiple submitters ⚠
c.795+4T>C Single submitter
c.-1C>T Single submitter
p.Ala104Thr Single submitter ⚠
p.Ala106Thr Single submitter ⚠
p.Ala107Thr Single submitter ⚠
p.Ala117Thr Single submitter ⚠
p.Ala122Thr Single submitter ⚠
p.Ala123Glu Single submitter ⚠
p.Ala135Val Single submitter ⚠
p.Ala139Gly Single submitter ⚠
p.Ala139Thr Single submitter ⚠
p.Ala139Val Single submitter ⚠
p.Ala143Gly Single submitter ⚠
p.Ala143Ser Single submitter ⚠
p.Ala152Asp Single submitter ⚠
p.Ala152Thr Single submitter ⚠
p.Ala162Ser Single submitter ⚠
p.Ala162Thr Single submitter ⚠
p.Ala166Gly Single submitter ⚠
p.Ala166Val Single submitter ⚠
p.Ala213Glu Single submitter ⚠
p.Ala213Val Single submitter ⚠
p.Ala219Thr Single submitter ⚠
p.Ala219Val Single submitter ⚠
p.Ala220Gly Single submitter ⚠
p.Ala220Pro Single submitter ⚠
p.Ala220Val Single submitter ⚠
p.Ala249Gly Single submitter ⚠
p.Ala249Ser Single submitter ⚠
p.Ala249Val Single submitter ⚠
p.Ala257Val Single submitter ⚠
p.Ala2Glu Single submitter ⚠
p.Ala313Thr Single submitter ⚠
p.Ala313Val Single submitter ⚠
p.Ala335Asp Single submitter ⚠
p.Ala335Val Single submitter ⚠
p.Ala345Pro Single submitter ⚠
p.Ala345Ser Single submitter ⚠
p.Ala351Val Single submitter ⚠
p.Ala356Gly Single submitter ⚠
p.Ala356Val Single submitter ⚠
p.Ala380Gly Single submitter ⚠
p.Ala380Ser Single submitter ⚠
p.Ala380Thr Single submitter ⚠
p.Ala380Val Single submitter ⚠
p.Ala387Ser Single submitter ⚠
p.Ala4Ser Single submitter ⚠
p.Ala61Val Single submitter ⚠
p.Ala65Ser Single submitter ⚠
p.Ala70Val Single submitter ⚠
p.Ala72Val Single submitter ⚠
p.Ala98Thr Single submitter ⚠
p.Arg100Gln Single submitter ⚠
p.Arg100Trp Single submitter ⚠
p.Arg129Gln Single submitter ⚠
p.Arg129Gly Single submitter ⚠
p.Arg129Leu Single submitter ⚠
p.Arg129Trp Single submitter ⚠
p.Arg133Leu Single submitter ⚠
p.Arg153Cys Single submitter ⚠
p.Arg183His Single submitter ⚠
p.Arg189Pro Single submitter ⚠
p.Arg211Gln Single submitter ⚠
p.Arg211Trp Single submitter ⚠
p.Arg229Ile Single submitter ⚠
p.Arg259Trp Single submitter ⚠
p.Arg319Gln Single submitter ⚠
p.Arg319Leu Single submitter ⚠
p.Arg319Trp Single submitter ⚠
p.Arg34Gln Single submitter ⚠
p.Arg34Leu Single submitter ⚠
p.Arg34Trp Single submitter ⚠
p.Arg355Thr Single submitter ⚠
p.Arg364Leu Single submitter ⚠
p.Arg364Ter Single submitter
p.Arg378Gly Single submitter ⚠
p.Arg378Lys Single submitter ⚠
p.Arg392Trp Single submitter ⚠
p.Arg40His Single submitter ⚠
p.Arg41Gln Single submitter ⚠
p.Arg55Gln Single submitter ⚠
p.Arg90His Single submitter ⚠
p.Arg90Leu Single submitter ⚠
p.Arg93Lys Single submitter ⚠
p.Arg93Ser Single submitter ⚠
p.Asn151Ser Single submitter ⚠
p.Asn161Asp Single submitter ⚠
p.Asn227Asp Single submitter ⚠
p.Asn227Ser Single submitter ⚠
p.Asn326Asp Single submitter ⚠
p.Asn326Lys Single submitter ⚠
p.Asn326Ser Single submitter ⚠
p.Asn326Thr Single submitter ⚠
p.Asn339His Single submitter ⚠
p.Asn389Asp Single submitter ⚠
p.Asn389Ser Single submitter ⚠
p.Asn91Asp Single submitter ⚠
p.Asn91Tyr Single submitter ⚠
p.Asp108Asn Single submitter ⚠
p.Asp138Glu Single submitter ⚠
p.Asp140Glu Single submitter ⚠
p.Asp140Val Single submitter ⚠
p.Asp141Gly Single submitter ⚠
p.Asp182Tyr Single submitter ⚠
p.Asp182Val Single submitter ⚠
p.Asp199Asn Single submitter ⚠
p.Asp216Glu Single submitter ⚠
p.Asp216Tyr Single submitter ⚠
p.Asp221Tyr Single submitter ⚠
p.Asp25Asn Single submitter ⚠
p.Asp25Glu Single submitter ⚠
p.Asp25Gly Single submitter ⚠
p.Asp267Asn Single submitter ⚠
p.Asp267His Single submitter ⚠
p.Asp267Tyr Single submitter ⚠
p.Asp272His Single submitter ⚠
p.Asp281Val Single submitter ⚠
p.Asp282Glu Single submitter ⚠
p.Asp282Gly Single submitter ⚠
p.Asp282Tyr Single submitter ⚠
p.Asp283Val Single submitter ⚠
p.Asp296Gly Single submitter ⚠
p.Asp296Val Single submitter ⚠
p.Asp328Asn Single submitter ⚠
p.Asp328Gly Single submitter ⚠
p.Asp357Glu Single submitter ⚠
p.Asp357Val Single submitter ⚠
p.Asp366Asn Single submitter ⚠
p.Asp366Gly Single submitter ⚠
p.Asp366Tyr Single submitter ⚠
p.Asp366Val Single submitter ⚠
p.Asp367Glu Single submitter ⚠
p.Asp367Gly Single submitter ⚠
p.Asp367Val Single submitter ⚠
p.Asp369Gly Single submitter ⚠
p.Asp374Val Single submitter ⚠
p.Asp376Tyr Single submitter ⚠
p.Asp6Asn Single submitter ⚠
p.Asp6Tyr Single submitter ⚠
p.Asp77Asn Single submitter ⚠
p.Asp86His Single submitter ⚠
p.Cys280Ser Single submitter ⚠
p.Gln178His Single submitter ⚠
p.Gln178Pro Single submitter ⚠
p.Gln191Arg Single submitter ⚠
p.Gln244Arg Single submitter ⚠
p.Gln244Glu Single submitter ⚠
p.Gln308Arg Single submitter ⚠
p.Gln308Glu Single submitter ⚠
p.Gln308Leu Single submitter ⚠
p.Gln320His Single submitter ⚠
p.Gln320Leu Single submitter ⚠
p.Gln354Arg Single submitter ⚠
p.Gln354His Single submitter ⚠
p.Gln354Leu Single submitter ⚠
p.Gln371Arg Single submitter ⚠
p.Gln371Pro Single submitter ⚠
p.Gln388Glu Single submitter ⚠
p.Gln388His Single submitter ⚠
p.Gln57Arg Single submitter ⚠
p.Gln57His Single submitter ⚠
p.Gln57Pro Single submitter ⚠
p.Gln66Pro Single submitter ⚠
p.Gln82Arg Single submitter ⚠
p.Gln82His Single submitter ⚠
p.Gln82Lys Single submitter ⚠
p.Glu120Gln Single submitter ⚠
p.Glu124Asp Single submitter ⚠
p.Glu124Val Single submitter ⚠
p.Glu126Asp Single submitter ⚠
p.Glu126Gln Single submitter ⚠
p.Glu150Lys Single submitter ⚠
p.Glu168Gln Single submitter ⚠
p.Glu168Gly Single submitter ⚠
p.Glu192Lys Single submitter ⚠
p.Glu215Asp Single submitter ⚠
p.Glu218Val Single submitter ⚠
p.Glu235Lys Single submitter ⚠
p.Glu237Val Single submitter ⚠
p.Glu241Gly Single submitter ⚠
p.Glu242Asp Single submitter ⚠
p.Glu245Asp Single submitter ⚠
p.Glu247Gly Single submitter ⚠
p.Glu247Lys Single submitter ⚠
p.Glu248Ala Single submitter ⚠
p.Glu260Lys Single submitter ⚠
p.Glu263_Val264insGlu Single submitter
p.Glu263Asp Single submitter ⚠
p.Glu268Lys Single submitter ⚠
p.Glu297Asp Single submitter ⚠
p.Glu297Lys Single submitter ⚠
p.Glu297Val Single submitter ⚠
p.Glu298Gly Single submitter ⚠
p.Glu299Lys Single submitter ⚠
p.Glu302Lys Single submitter ⚠
p.Glu303Val Single submitter ⚠
p.Glu304_Lys305insGlu Single submitter
p.Glu304del Single submitter
p.Glu304Lys Single submitter ⚠
p.Glu323Asp Single submitter ⚠
p.Glu323Gly Single submitter ⚠
p.Glu342Lys Single submitter ⚠
p.Glu375Lys Single submitter ⚠
p.Glu375Val Single submitter ⚠
p.Glu379Ala Single submitter ⚠
p.Glu395Asp Single submitter ⚠
p.Glu58Asp Single submitter ⚠
p.Glu58Lys Single submitter ⚠
p.Glu69Gln Single submitter ⚠
p.Glu73Asp Single submitter ⚠
p.Glu73Gln Single submitter ⚠
p.Glu89Lys Single submitter ⚠
p.Glu92Asp Single submitter ⚠
p.Glu95Gln Single submitter ⚠
p.Glu95Lys Single submitter ⚠
p.Glu97Gln Single submitter ⚠
p.Gly102Arg Single submitter ⚠
p.Gly110Arg Single submitter ⚠
p.Gly110Ser Single submitter ⚠
p.Gly116Glu Single submitter ⚠
p.Gly116Trp Single submitter ⚠
p.Gly116Val Single submitter ⚠
p.Gly121Asp Single submitter ⚠
p.Gly132Glu Single submitter ⚠
p.Gly13Glu Single submitter ⚠
p.Gly160Ser Single submitter ⚠
p.Gly160Val Single submitter ⚠
p.Gly198Arg Single submitter ⚠
p.Gly223Ala Single submitter ⚠
p.Gly223Arg Single submitter ⚠
p.Gly223Glu Single submitter ⚠
p.Gly26Cys Single submitter ⚠
p.Gly26Ser Single submitter ⚠
p.Gly312Arg Single submitter ⚠
p.Gly341Ala Single submitter ⚠
p.Gly341Arg Single submitter ⚠
p.Gly341Asp Single submitter ⚠