TLL2 — 183 ClinVar variants

All ClinVar germline TLL2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 163 flagged for review →

6 Benign · 6 Likely benign · 171 Uncertain significance

Full TLL2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 163

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 123

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 40

The independent predictors disagree with each other — read with care.

All TLL2 variants

Benign 6

p.Arg446His Multiple submitters
p.Gly366Arg Multiple submitters
p.Phe751Leu Multiple submitters
p.Thr495= Multiple submitters
p.Asn912= Single submitter
p.Gly683Ser Single submitter ⚠

Likely benign 6

p.Arg124Gln Single submitter
p.Arg693Lys Single submitter
p.Arg988His Single submitter
p.Leu130Pro Single submitter
p.Thr859Met Single submitter
p.Val324Ile Single submitter

Uncertain significance 171

p.Ala737Thr Multiple submitters ⚠
p.Pro914Leu Multiple submitters ⚠
p.Ala302Thr Single submitter ⚠
p.Ala342Thr Single submitter ⚠
p.Ala4Thr Single submitter ⚠
p.Ala59Gly Single submitter ⚠
p.Ala654Thr Single submitter ⚠
p.Ala6Thr Single submitter ⚠
p.Ala788Thr Single submitter ⚠
p.Ala90Gly Single submitter ⚠
p.Arg1001Gly Single submitter ⚠
p.Arg146Gln Single submitter ⚠
p.Arg146Trp Single submitter ⚠
p.Arg148Gln Single submitter ⚠
p.Arg220His Single submitter ⚠
p.Arg256Gln Single submitter ⚠
p.Arg29Gly Single submitter ⚠
p.Arg318Cys Single submitter ⚠
p.Arg331Cys Single submitter ⚠
p.Arg333Trp Single submitter ⚠
p.Arg343Gln Single submitter ⚠
p.Arg402Ter Single submitter
p.Arg412Gln Single submitter ⚠
p.Arg412Trp Single submitter ⚠
p.Arg424Gly Single submitter ⚠
p.Arg440Trp Single submitter ⚠
p.Arg525Pro Single submitter ⚠
p.Arg525Trp Single submitter ⚠
p.Arg591His Single submitter ⚠
p.Arg657Gln Single submitter ⚠
p.Arg681His Single submitter ⚠
p.Arg711His Single submitter ⚠
p.Arg726Gly Single submitter ⚠
p.Arg757Ser Single submitter ⚠
p.Arg799Gln Single submitter ⚠
p.Arg892Trp Single submitter ⚠
p.Arg988Cys Single submitter ⚠
p.Asn469Ser Single submitter ⚠
p.Asn709Tyr Single submitter ⚠
p.Asp515Asn Single submitter
p.Asp612Glu Single submitter ⚠
p.Asp687Asn Single submitter ⚠
p.Asp732Gly Single submitter ⚠
p.Asp838Asn Single submitter ⚠
p.Asp958Gly Single submitter ⚠
p.Cys234Tyr Single submitter ⚠
p.Cys620Tyr Single submitter ⚠
p.Cys743Tyr Single submitter ⚠
p.Cys758Arg Single submitter ⚠
p.Gln271His Single submitter ⚠
p.Gln474His Single submitter ⚠
p.Gln48His Single submitter ⚠
p.Gln877Arg Single submitter ⚠
p.Gln882Arg Single submitter ⚠
p.Gln907Arg Single submitter ⚠
p.Glu243Gln Single submitter ⚠
p.Glu275Lys Single submitter ⚠
p.Glu38Gln Single submitter spinal muscular atrophy ⚠
p.Glu579Asp Single submitter ⚠
p.Glu579Lys Single submitter ⚠
p.Glu701Lys Single submitter ⚠
p.Glu713Gly Single submitter
p.Glu974Lys Single submitter ⚠
p.Gly115Val Single submitter ⚠
p.Gly134Glu Single submitter ⚠
p.Gly238Val Single submitter ⚠
p.Gly25Glu Single submitter ⚠
p.Gly309Arg Single submitter ⚠
p.Gly455Val Single submitter ⚠
p.Gly465Arg Single submitter ⚠
p.Gly473Ser Single submitter ⚠
p.Gly536Ser Single submitter ⚠
p.Gly562Ser Single submitter ⚠
p.Gly606Asp Single submitter ⚠
p.Gly622Ser Single submitter ⚠
p.Gly683Asp Single submitter ⚠
p.Gly696Cys Single submitter ⚠
p.Gly724Ser Single submitter ⚠
p.Gly741Ser Single submitter ⚠
p.Gly761Ser Single submitter ⚠
p.Gly839Arg Single submitter ⚠
p.Gly852Ser Single submitter ⚠
p.Gly863Ser Single submitter ⚠
p.Gly890Trp Single submitter ⚠
p.Gly965Cys Single submitter ⚠
p.Gly969Asp Single submitter ⚠
p.His131Tyr Single submitter ⚠
p.His254Tyr Single submitter ⚠
p.His262Arg Single submitter ⚠
p.His376Leu Single submitter ⚠
p.His514Arg Single submitter ⚠
p.His537Tyr Single submitter spinal muscular atrophy ⚠
p.His53Arg Single submitter ⚠
p.His53Tyr Single submitter ⚠
p.His826Gln Single submitter ⚠
p.His93Pro Single submitter ⚠
p.Ile158Thr Single submitter ⚠
p.Ile168Thr Single submitter ⚠
p.Ile339Val Single submitter ⚠
p.Ile703Ser Single submitter ⚠
p.Leu13Pro Single submitter ⚠
p.Leu596Gln Single submitter ⚠
p.Leu787Arg Single submitter ⚠
p.Lys454Glu Single submitter ⚠
p.Met184Val Single submitter ⚠
p.Met281Ile Single submitter ⚠
p.Met299Ile Single submitter ⚠
p.Met299Thr Single submitter ⚠
p.Met396Thr Single submitter ⚠
p.Met556Ile Single submitter ⚠
p.Met836Thr Single submitter ⚠
p.Phe143Tyr Single submitter ⚠
p.Phe509Leu Single submitter ⚠
p.Phe729Val Single submitter
p.Phe908Ser Single submitter ⚠
p.Pro160Thr Single submitter
p.Pro225Leu Single submitter ⚠
p.Pro431Leu Single submitter ⚠
p.Pro481Leu Single submitter ⚠
p.Pro528Leu Single submitter ⚠
p.Pro544Ala Single submitter ⚠
p.Pro544Leu Single submitter ⚠
p.Pro637Leu Single submitter ⚠
p.Pro840Leu Single submitter ⚠
p.Pro856Arg Single submitter ⚠
p.Pro914Ser Single submitter ⚠
p.Ser208Ile Single submitter ⚠
p.Ser335Cys Single submitter ⚠
p.Ser382Leu Single submitter ⚠
p.Ser477Tyr Single submitter ⚠
p.Ser598Asn Single submitter ⚠
p.Ser685Phe Single submitter ⚠
p.Ser707Asn Single submitter ⚠
p.Ser731Ala Single submitter ⚠
p.Ser842Asn Single submitter ⚠
p.Ser853Cys Single submitter
p.Ser94Arg Single submitter ⚠
p.Ser959Cys Single submitter ⚠
p.Ser970Tyr Single submitter ⚠
p.Ser978Phe Single submitter ⚠
p.Thr142Ser Single submitter ⚠
p.Thr199Met Single submitter ⚠
p.Thr211Ile Single submitter ⚠
p.Thr292Ile Single submitter ⚠
p.Thr305Ser Single submitter ⚠
p.Thr359Met Single submitter ⚠
p.Thr437Met Single submitter ⚠
p.Thr45Met Single submitter ⚠
p.Thr529Lys Single submitter ⚠
p.Thr595Met Single submitter ⚠
p.Thr817Asn Single submitter ⚠
p.Thr87Lys Single submitter ⚠
p.Trp442Leu Single submitter ⚠
p.Tyr1002Phe Single submitter ⚠
p.Tyr371Ser Single submitter ⚠
p.Tyr480Asn Single submitter ⚠
p.Tyr541Cys Single submitter
p.Tyr754His Single submitter ⚠
p.Tyr903Cys Single submitter
p.Val11Met Single submitter ⚠
p.Val167Asp Single submitter ⚠
p.Val167Ile Single submitter ⚠
p.Val332Leu Single submitter ⚠
p.Val409Met Single submitter ⚠
p.Val491Leu Single submitter ⚠
p.Val712Met Single submitter ⚠
p.Val748Ile Single submitter ⚠
p.Val748Leu Single submitter ⚠
p.Val897Met Single submitter ⚠
p.Val940Ala Single submitter ⚠
c.923+1G>T No assertion criteria sellar metastasis from primary bronchial carcinoid tumor