Sugi Variant

Sugi Variant/TNXB

TNXB — 3405 ClinVar variants

All ClinVar germline TNXB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1407 flagged for review →

54 Pathogenic · 17 Pathogenic/Likely pathogenic · 70 Likely pathogenic · 242 Conflicting · 59 Benign · 111 Benign/Likely benign · 1040 Likely benign · 1812 Uncertain significance

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

⚑ Evidence disagreements 1407

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 vs ClinVar 3

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 161

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification. · showing the 150 best-reviewed of 161

Predictors lean, ClinVar uncertain 1160

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 1160

Predictors split 83

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

All TNXB variants

Pathogenic 54

  • p.Pro2839fs Multiple submitters Cardiovascular phenotype
  • p.Arg1099fs Single submitter Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Arg1525Ter Single submitter Cardiovascular phenotype
  • p.Arg2783fs Single submitter Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Arg3313Ter Single submitter
  • p.Arg695fs Single submitter Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Arg847Ter Single submitter Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Asn1488fs Single submitter Cardiovascular phenotype
  • p.Cys492fs Single submitter
  • p.Gln1303fs Single submitter Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Gln1809_Tyr1810insTer Single submitter Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Gln2760Ter Single submitter
  • p.Gln3405fs Single submitter
  • p.Gln3482fs Single submitter Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Glu2154fs Single submitter Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Glu2735Ter Single submitter Cardiovascular phenotype
  • p.Glu2786Ter Single submitter
  • p.Glu632Ter Single submitter Cardiovascular phenotype
  • p.Glu696fs Single submitter Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Gly1433fs Single submitter Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Gly2701_Gly2702insTer Single submitter Cardiovascular phenotype
  • p.Gly2746Ter Single submitter Cardiovascular phenotype
  • p.Gly2793fs Single submitter Cardiovascular phenotype
  • p.Gly319fs Single submitter Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Gly379fs Single submitter Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.His2352fs Single submitter Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Leu18fs Single submitter Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Leu2804fs Single submitter vesicoureteral reflux 8
  • p.Leu977fs Single submitter Cardiovascular phenotype
  • p.Lys1125fs Single submitter Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Phe3196fs Single submitter Cardiovascular phenotype
  • p.Phe3479fs Single submitter
  • p.Pro1687fs Single submitter Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Pro2174fs Single submitter
  • p.Pro2734fs Single submitter Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Pro2965fs Single submitter Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Ser1471fs Single submitter Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Ser1937fs Single submitter Cardiovascular phenotype
  • p.Thr141fs Single submitter Cardiovascular phenotype
  • p.Thr171fs Single submitter Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Thr1788fs Single submitter Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Thr1868fs Single submitter Cardiovascular phenotype
  • p.Thr3197fs Single submitter Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Thr896_Asp897insTer Single submitter Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Trp1681Ter Single submitter
  • p.Trp2648Ter Single submitter TNXB-related hypermobile Ehlers-Danlos syndrome
  • p.Tyr2480Ter Single submitter
  • p.Tyr6Ter Single submitter Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Val1593fs Single submitter Cardiovascular phenotype
  • p.Val706_Glu707insTer Single submitter Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Arg4074Cys No assertion criteria Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Gln1405Ter No assertion criteria TNXB-related disorder
  • p.Gly1331Arg No assertion criteria vesicoureteral reflux 8
  • p.Val2202fs No assertion criteria TNXB-related disorder

Pathogenic/Likely pathogenic 17

  • c.7826-1G>C Multiple submitters vesicoureteral reflux 8
  • p.Arg1255fs Multiple submitters Cardiovascular phenotype
  • p.Arg236fs Multiple submitters Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Arg2999fs Multiple submitters TNXB-related disorder
  • p.Arg821Ter Multiple submitters Cardiovascular phenotype
  • p.Asp2502fs Multiple submitters Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Gln1095_Tyr1096insTer Multiple submitters vesicoureteral reflux 8
  • p.Gln1303Ter Multiple submitters Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Gln2269Ter Multiple submitters Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Glu2100fs Multiple submitters Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.His626fs Multiple submitters vesicoureteral reflux 8
  • p.Lys1097fs Multiple submitters vesicoureteral reflux 8
  • p.Phe2871fs Multiple submitters Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Thr1315fs Multiple submitters Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Thr1569fs Multiple submitters Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Val1819fs Multiple submitters Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Gln864Ter No assertion criteria Ehlers-Danlos syndrome due to tenascin-X deficiency

Likely pathogenic 70

  • c.11387-2A>G Multiple submitters Ehlers-Danlos syndrome due to tenascin-X deficiency
  • c.9115+1G>A Multiple submitters Ehlers-Danlos syndrome due to tenascin-X deficiency
  • c.9116-1G>A Multiple submitters Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Gln1923Ter Multiple submitters Joint hypermobility
  • p.Gln2870fs Multiple submitters Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Glu2825Lys Multiple submitters vesicoureteral reflux 8 ⚠
  • p.Pro3542fs Multiple submitters Ehlers-Danlos syndrome
  • c.10606+1G>A Single submitter
  • c.2780-2A>G Single submitter Ehlers-Danlos syndrome due to tenascin-X deficiency
  • c.3149-1G>A Single submitter Ehlers-Danlos syndrome due to tenascin-X deficiency
  • c.404-2A>G Single submitter Ehlers-Danlos syndrome due to tenascin-X deficiency
  • c.4976_4990+30del Single submitter
  • c.4990+1G>T Single submitter Ehlers-Danlos syndrome due to tenascin-X deficiency
  • c.6841+1G>A Single submitter Ehlers-Danlos syndrome due to tenascin-X deficiency
  • c.7168+2T>C Single submitter
  • c.8791+1G>A Single submitter Ehlers-Danlos syndrome due to tenascin-X deficiency
  • c.9758-2_9758-1del Single submitter vesicoureteral reflux 8
  • p.Ala1980fs Single submitter
  • p.Ala850fs Single submitter Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Arg1944fs Single submitter Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Arg287fs Single submitter Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Arg3264fs Single submitter Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Arg356fs Single submitter Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Asp2642fs Single submitter Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Asp2750fs Single submitter Ehlers-Danlos syndrome
  • p.Asp2858fs Single submitter Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Asp4081fs Single submitter Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Cys204Ter Single submitter Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Cys352Ter Single submitter
  • p.Gln1102fs Single submitter Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Gln1261Ter Single submitter Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Gln1447Ter Single submitter
  • p.Gln1549Ter Single submitter
  • p.Gln194Ter Single submitter Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Gln664Ter Single submitter Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Glu1679Ter Single submitter
  • p.Glu1983fs Single submitter Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Glu2100Ter Single submitter Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Glu2460fs Single submitter Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Glu3166fs Single submitter Ehlers-Danlos syndrome
  • p.Glu3166Val Single submitter Ehlers-Danlos syndrome ⚠
  • p.Glu3171Ter Single submitter Ehlers-Danlos syndrome
  • p.Glu387Ter Single submitter Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Glu552fs Single submitter vesicoureteral reflux 8
  • p.Glu682Ter Single submitter Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Gly261fs Single submitter Ehlers-Danlos syndrome
  • p.Gly3000fs Single submitter Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Gly3223fs Single submitter Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Gly3527fs Single submitter
  • p.Gly562fs Single submitter
  • p.Gly67fs Single submitter vesicoureteral reflux 8
  • p.Ile2627fs Single submitter Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Ile3059fs Single submitter TNXB-related disorder
  • p.Leu3224fs Single submitter Ehlers-Danlos syndrome
  • p.Lys2259Ter Single submitter
  • p.Lys2987Ter Single submitter Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Phe3476fs Single submitter Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Pro1009fs Single submitter Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Pro1253fs Single submitter
  • p.Pro3494fs Single submitter
  • p.Thr2280fs Single submitter
  • p.Trp1281Ter Single submitter Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Trp215fs Single submitter Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Trp769Ter Single submitter Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Tyr2159Ter Single submitter TNXB-related disorder
  • p.Tyr2258Ter Single submitter TNXB-related disorder
  • p.Val1961fs Single submitter vesicoureteral reflux 8
  • p.Val2544fs Single submitter vesicoureteral reflux 8
  • p.Val3666fs Single submitter Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Ser11Cys No assertion criteria Ehlers-Danlos syndrome due to tenascin-X deficiency ⚠

Conflicting classifications of pathogenicity 242

Benign 59

Benign/Likely benign 111

  • c.10046-4C>T Multiple submitters Cardiovascular phenotype
  • c.2242+18C>G Multiple submitters
  • c.3445+8A>G Multiple submitters Ehlers-Danlos syndrome
  • c.6544+8T>A Multiple submitters Ehlers-Danlos syndrome
  • c.7168+19C>A Multiple submitters
  • c.7492+8G>A Multiple submitters Ehlers-Danlos syndrome
  • c.8791+35G>A Multiple submitters
  • c.9116-13C>T Multiple submitters
  • c.9757+12G>A Multiple submitters
  • p.Ala1115= Multiple submitters Cardiovascular phenotype
  • p.Ala1521Val Multiple submitters Cardiovascular phenotype
  • p.Ala173Thr Multiple submitters Ehlers-Danlos syndrome
  • p.Ala434= Multiple submitters Cardiovascular phenotype
  • p.Arg1064His Multiple submitters Cardiovascular phenotype
  • p.Arg1255His Multiple submitters Cardiovascular phenotype
  • p.Arg1414Gln Multiple submitters Ehlers-Danlos syndrome
  • p.Arg1676= Multiple submitters Cardiovascular phenotype
  • p.Arg2203Lys Multiple submitters Cardiovascular phenotype
  • p.Arg225= Multiple submitters Cardiovascular phenotype
  • p.Arg2451Gln Multiple submitters Cardiovascular phenotype
  • p.Arg2473Cys Multiple submitters vesicoureteral reflux 8
  • p.Arg2597Gln Multiple submitters Cardiovascular phenotype
  • p.Arg2704His Multiple submitters Cardiovascular phenotype
  • p.Arg2978His Multiple submitters Cardiovascular phenotype
  • p.Arg29Gln Multiple submitters Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Arg3105Gln Multiple submitters Cardiovascular phenotype
  • p.Arg3211Gly Multiple submitters Cardiovascular phenotype
  • p.Arg38Gln Multiple submitters vesicoureteral reflux 8
  • p.Arg490Gln Multiple submitters vesicoureteral reflux 8
  • p.Arg511His Multiple submitters Cardiovascular phenotype
  • p.Arg557= Multiple submitters Cardiovascular phenotype
  • p.Arg650His Multiple submitters Cardiovascular phenotype
  • p.Asp1218Glu Multiple submitters Cardiovascular phenotype
  • p.Asp1814Glu Multiple submitters Ehlers-Danlos syndrome
  • p.Asp2560= Multiple submitters Cardiovascular phenotype
  • p.Asp3204= Multiple submitters Cardiovascular phenotype
  • p.Cys3014Arg Multiple submitters Cardiovascular phenotype
  • p.Gln2571Glu Multiple submitters Cardiovascular phenotype
  • p.Glu1629Lys Multiple submitters Ehlers-Danlos syndrome
  • p.Glu1905Lys Multiple submitters Cardiovascular phenotype
  • p.Glu3056= Multiple submitters Cardiovascular phenotype
  • p.Glu3215Lys Multiple submitters Ehlers-Danlos syndrome
  • p.Gly1140Asp Multiple submitters Ehlers-Danlos syndrome
  • p.Gly1616= Multiple submitters Ehlers-Danlos syndrome
  • p.Gly1850Ser Multiple submitters Cardiovascular phenotype
  • p.Gly2134Arg Multiple submitters Cardiovascular phenotype
  • p.Gly2351Arg Multiple submitters Cardiovascular phenotype
  • p.Gly2495Ser Multiple submitters Cardiovascular phenotype
  • p.Gly2665= Multiple submitters Cardiovascular phenotype
  • p.Gly2848Arg Multiple submitters Cardiovascular phenotype
  • p.Gly3000= Multiple submitters Cardiovascular phenotype
  • p.Gly303= Multiple submitters Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Gly3191Ser Multiple submitters Cardiovascular phenotype
  • p.Gly3214Val Multiple submitters Ehlers-Danlos syndrome
  • p.Gly3340Ser Multiple submitters Ehlers-Danlos syndrome
  • p.Gly829Ser Multiple submitters Ehlers-Danlos syndrome
  • p.His3024= Multiple submitters Ehlers-Danlos syndrome
  • p.Ile1588Val Multiple submitters Cardiovascular phenotype
  • p.Ile2711Thr Multiple submitters Cardiovascular phenotype
  • p.Leu2045= Multiple submitters Cardiovascular phenotype
  • p.Leu2540= Multiple submitters Cardiovascular phenotype
  • p.Lys1127Arg Multiple submitters Ehlers-Danlos syndrome
  • p.Lys2574Glu Multiple submitters Cardiovascular phenotype
  • p.Lys3017Arg Multiple submitters Cardiovascular phenotype
  • p.Met2636Val Multiple submitters Ehlers-Danlos syndrome
  • p.Met2865Thr Multiple submitters Ehlers-Danlos syndrome
  • p.Phe2228Tyr Multiple submitters Ehlers-Danlos syndrome
  • p.Phe2549= Multiple submitters Cardiovascular phenotype
  • p.Phe2763= Multiple submitters Cardiovascular phenotype
  • p.Pro1373= Multiple submitters Cardiovascular phenotype
  • p.Pro1451= Multiple submitters Cardiovascular phenotype
  • p.Pro2092= Multiple submitters Cardiovascular phenotype
  • p.Pro2273= Multiple submitters Ehlers-Danlos syndrome
  • p.Pro2301His Multiple submitters Ehlers-Danlos syndrome
  • p.Pro2412Leu Multiple submitters Cardiovascular phenotype
  • p.Pro2471= Multiple submitters vesicoureteral reflux 8
  • p.Pro2545Ser Multiple submitters Cardiovascular phenotype
  • p.Pro2601Leu Multiple submitters Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Pro2731Arg Multiple submitters Cardiovascular phenotype
  • p.Pro2949Thr Multiple submitters Ehlers-Danlos syndrome
  • p.Pro3254= Multiple submitters Ehlers-Danlos syndrome
  • p.Pro3354Ser Multiple submitters Cardiovascular phenotype
  • p.Pro3528Leu Multiple submitters Cardiovascular phenotype
  • p.Ser2250= Multiple submitters Cardiovascular phenotype
  • p.Ser613Gly Multiple submitters Cardiovascular phenotype
  • p.Ser791= Multiple submitters Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Ser921Ala Multiple submitters Cardiovascular phenotype
  • p.Ser943= Multiple submitters Cardiovascular phenotype
  • p.Thr1495Ile Multiple submitters Cardiovascular phenotype
  • p.Thr1916Ala Multiple submitters Ehlers-Danlos syndrome
  • p.Thr2008= Multiple submitters Cardiovascular phenotype
  • p.Thr2465= Multiple submitters Cardiovascular phenotype
  • p.Thr2622= Multiple submitters Ehlers-Danlos syndrome
  • p.Thr302Ala Multiple submitters Cardiovascular phenotype
  • p.Thr3146= Multiple submitters Ehlers-Danlos syndrome
  • p.Thr3283= Multiple submitters Cardiovascular phenotype
  • p.Thr3456= Multiple submitters Cardiovascular phenotype
  • p.Thr795= Multiple submitters Cardiovascular phenotype
  • p.Tyr2591= Multiple submitters Cardiovascular phenotype
  • p.Tyr3518= Multiple submitters Cardiovascular phenotype
  • p.Val1482Met Multiple submitters Cardiovascular phenotype
  • p.Val203Met Multiple submitters Cardiovascular phenotype
  • p.Val2127Met Multiple submitters Cardiovascular phenotype
  • p.Val2271Leu Multiple submitters Cardiovascular phenotype
  • p.Val2433Ile Multiple submitters Cardiovascular phenotype
  • p.Val2454Ala Multiple submitters Cardiovascular phenotype
  • p.Val2457= Multiple submitters Cardiovascular phenotype
  • p.Val2568= Multiple submitters Ehlers-Danlos syndrome due to tenascin-X deficiency
  • p.Val3188Ile Multiple submitters Cardiovascular phenotype
  • p.Val3221= Multiple submitters Ehlers-Danlos syndrome
  • p.Val906Leu Multiple submitters Cardiovascular phenotype

Likely benign 1040

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

Uncertain significance 1812

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