Sugi Variant

Sugi Variant/IFT122

IFT122 — 1070 ClinVar variants

All ClinVar germline IFT122 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 402 flagged for review →

40 Pathogenic · 14 Pathogenic/Likely pathogenic · 44 Likely pathogenic · 52 Conflicting · 62 Benign · 30 Benign/Likely benign · 324 Likely benign · 504 Uncertain significance

Full IFT122 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 402

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 1

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

Predictors agree, ClinVar conflicts 16

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

Predictors lean, ClinVar uncertain 286

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 286

Predictors split 99

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

All IFT122 variants

Pathogenic 40

  • p.Gln1005Ter Multiple submitters cranioectodermal dysplasia 1
  • p.Glu655fs Multiple submitters cranioectodermal dysplasia 1
  • p.Ser1143fs Multiple submitters cranioectodermal dysplasia 1
  • c.2375+2T>C Single submitter cranioectodermal dysplasia 1
  • c.273-303_273-302del Single submitter cranioectodermal dysplasia 1
  • c.273-341dup Single submitter cranioectodermal dysplasia 1
  • c.273-374_273-369dup Single submitter cranioectodermal dysplasia 1
  • p.Arg250fs Single submitter cranioectodermal dysplasia 1
  • p.Arg400Ter Single submitter cranioectodermal dysplasia 1
  • p.Arg890Ter Single submitter cranioectodermal dysplasia 1
  • p.Arg892fs Single submitter Fetal anomalies with a likely genetic cause
  • p.Asp1142fs Single submitter cranioectodermal dysplasia 1
  • p.Cys1060Ter Single submitter cranioectodermal dysplasia 1
  • p.Gln328Ter Single submitter cranioectodermal dysplasia 1
  • p.Gln349Ter Single submitter cranioectodermal dysplasia 1
  • p.Gln381Ter Single submitter cranioectodermal dysplasia 1
  • p.Glu689fs Single submitter cranioectodermal dysplasia 1
  • p.Leu1066fs Single submitter cranioectodermal dysplasia 1
  • p.Lys128fs Single submitter cranioectodermal dysplasia 1
  • p.Lys762fs Single submitter cranioectodermal dysplasia 1
  • p.Met151fs Single submitter cranioectodermal dysplasia 1
  • p.Phe116fs Single submitter cranioectodermal dysplasia 1
  • p.Pro1188fs Single submitter cranioectodermal dysplasia 1
  • p.Ser679fs Single submitter
  • p.Ser991fs Single submitter cranioectodermal dysplasia 1
  • p.Thr902fs Single submitter cranioectodermal dysplasia 1
  • p.Trp1192Ter Single submitter cranioectodermal dysplasia 1
  • p.Trp140Ter Single submitter cranioectodermal dysplasia 1
  • p.Trp323Ter Single submitter cranioectodermal dysplasia 1
  • p.Trp7Ter Single submitter cranioectodermal dysplasia 1
  • p.Tyr1026fs Single submitter cranioectodermal dysplasia 1
  • p.Tyr61Ter Single submitter
  • p.Tyr771fs Single submitter
  • p.Val426fs Single submitter cranioectodermal dysplasia 1
  • p.Val478fs Single submitter cranioectodermal dysplasia 1
  • p.Glu319fs No assertion criteria cranioectodermal dysplasia 1
  • p.Ter1242Trp No assertion criteria cranioectodermal dysplasia 1
  • p.Trp7Cys No assertion criteria cranioectodermal dysplasia 1
  • p.Tyr1026_Ile1027delinsVal No assertion criteria cranioectodermal dysplasia 1
  • p.Val502Gly No assertion criteria cranioectodermal dysplasia 1

Pathogenic/Likely pathogenic 14

  • c.1148-1G>C Multiple submitters cranioectodermal dysplasia 1
  • c.273-257C>A Multiple submitters cranioectodermal dysplasia 1
  • c.273-281_273-271del Multiple submitters cranioectodermal dysplasia 1
  • c.3265+1G>A Multiple submitters cranioectodermal dysplasia 1
  • p.Arg1185Ter Multiple submitters cranioectodermal dysplasia 1
  • p.Arg189Ter Multiple submitters IFT122-related disorder
  • p.Arg673Ter Multiple submitters cranioectodermal dysplasia 1
  • p.Gln468Ter Multiple submitters cranioectodermal dysplasia 1
  • p.Glu198fs Multiple submitters cranioectodermal dysplasia 1
  • p.Leu306fs Multiple submitters cranioectodermal dysplasia 1
  • p.Trp119Ter Multiple submitters cranioectodermal dysplasia 1
  • p.Tyr771Ter Multiple submitters cranioectodermal dysplasia 1
  • p.Tyr943Cys Multiple submitters cranioectodermal dysplasia 1 ⚠
  • p.Val595fs Multiple submitters cranioectodermal dysplasia 1

Likely pathogenic 44

  • c.272+1G>A Multiple submitters cranioectodermal dysplasia 1
  • c.1148-1G>A Single submitter IFT122-related disorder
  • c.1148-2A>G Single submitter cranioectodermal dysplasia 1
  • c.1350+2T>C Single submitter
  • c.1351-2A>G Single submitter cranioectodermal dysplasia 1
  • c.193+2T>G Single submitter cranioectodermal dysplasia 1
  • c.2650+1G>A Single submitter cranioectodermal dysplasia 1
  • c.272+1G>C Single submitter cranioectodermal dysplasia 1
  • c.2791+1G>A Single submitter cranioectodermal dysplasia 1
  • c.2791+1G>C Single submitter cranioectodermal dysplasia 1
  • c.3391+1G>A Single submitter cranioectodermal dysplasia 1
  • c.3391+2T>C Single submitter cranioectodermal dysplasia 1
  • c.349+1G>A Single submitter cranioectodermal dysplasia 1
  • c.3616_3636+5del Single submitter cranioectodermal dysplasia 1
  • c.416+2T>G Single submitter cranioectodermal dysplasia 1
  • p.Arg8_Asp9insTer Single submitter cranioectodermal dysplasia 1
  • p.Arg8Ter Single submitter cranioectodermal dysplasia 1
  • p.Asn903fs Single submitter cranioectodermal dysplasia 1
  • p.Asp342Val Single submitter cranioectodermal dysplasia 1
  • p.Asp626fs Single submitter cranioectodermal dysplasia 1
  • p.Cys58Arg Single submitter cranioectodermal dysplasia 1
  • p.Cys98fs Single submitter cranioectodermal dysplasia 1
  • p.Glu1217fs Single submitter Rod-cone dystrophy
  • p.Glu248fs Single submitter cranioectodermal dysplasia 1
  • p.Gly299Asp Single submitter cranioectodermal dysplasia 1 ⚠
  • p.Gly572Val Single submitter cranioectodermal dysplasia 1
  • p.Ile1144fs Single submitter cranioectodermal dysplasia 1
  • p.Ile79Ter Single submitter cranioectodermal dysplasia 1
  • p.Leu390fs Single submitter IFT122-related disorder
  • p.Leu498Pro Single submitter cranioectodermal dysplasia 1
  • p.Leu511Pro Single submitter cranioectodermal dysplasia 1
  • p.Lys1033fs Single submitter cranioectodermal dysplasia 1
  • p.Lys427Ter Single submitter cranioectodermal dysplasia 1
  • p.Lys601fs Single submitter cranioectodermal dysplasia 1
  • p.Ser175fs Single submitter cranioectodermal dysplasia 1
  • p.Ser322Phe Single submitter cranioectodermal dysplasia 1
  • p.Ser416Ter Single submitter cranioectodermal dysplasia 1
  • p.Trp190Ter Single submitter IFT122-related disorder
  • p.Trp80Arg Single submitter IFT122-related disorder
  • p.Trp80Ter Single submitter cranioectodermal dysplasia 1
  • p.Tyr288_Phe289insTer Single submitter
  • p.Tyr288fs Single submitter
  • p.Tyr348Ter Single submitter cranioectodermal dysplasia 1
  • p.Val77Gly Single submitter cranioectodermal dysplasia 1

Conflicting classifications of pathogenicity 52

Benign 62

Benign/Likely benign 30

  • c.109-15T>C Multiple submitters cranioectodermal dysplasia 1
  • c.1993-8C>T Multiple submitters cranioectodermal dysplasia 1
  • c.2375+13C>T Multiple submitters cranioectodermal dysplasia 1
  • c.273-266G>A Multiple submitters cranioectodermal dysplasia 1
  • c.273-417del Multiple submitters
  • c.3265+7C>T Multiple submitters connective tissue disorder
  • c.416+12T>C Multiple submitters cranioectodermal dysplasia 1
  • c.563+7T>C Multiple submitters cranioectodermal dysplasia 1
  • c.-210C>A Multiple submitters cranioectodermal dysplasia 1
  • p.Arg425Trp Multiple submitters connective tissue disorder ⚠
  • p.Arg687Gln Multiple submitters cranioectodermal dysplasia 1
  • p.Arg805= Multiple submitters connective tissue disorder
  • p.Asn875= Multiple submitters cranioectodermal dysplasia 1
  • p.Asp371= Multiple submitters cranioectodermal dysplasia 1
  • p.Gln107= Multiple submitters connective tissue disorder
  • p.Glu413= Multiple submitters cranioectodermal dysplasia 1
  • p.Glu648Ala Multiple submitters cranioectodermal dysplasia 1
  • p.Gly1101= Multiple submitters cranioectodermal dysplasia 1
  • p.His718= Multiple submitters connective tissue disorder
  • p.Ile1082Val Multiple submitters cranioectodermal dysplasia 1
  • p.Ile1144= Multiple submitters cranioectodermal dysplasia 1
  • p.Ile636= Multiple submitters cranioectodermal dysplasia 1
  • p.Ile783= Multiple submitters cranioectodermal dysplasia 1
  • p.Leu1154= Multiple submitters cranioectodermal dysplasia 1
  • p.Leu511= Multiple submitters cranioectodermal dysplasia 1
  • p.Lys275Asn Multiple submitters cranioectodermal dysplasia 1 ⚠
  • p.Lys765Thr Multiple submitters cranioectodermal dysplasia 1
  • p.Ser368Asn Multiple submitters connective tissue disorder
  • p.Ser571= Multiple submitters connective tissue disorder
  • p.Ser618= Multiple submitters cranioectodermal dysplasia 1

Likely benign 324

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

Uncertain significance 504

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