Sugi Variant

Sugi Variant/CUBN

CUBN — 2529 ClinVar variants

All ClinVar germline CUBN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 843 flagged for review →

61 Pathogenic · 30 Pathogenic/Likely pathogenic · 112 Likely pathogenic · 137 Conflicting · 244 Benign · 65 Benign/Likely benign · 642 Likely benign · 1238 Uncertain significance

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

⚑ Evidence disagreements 843

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 4

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

Predictors agree, ClinVar conflicts 61

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

Predictors lean, ClinVar uncertain 742

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 742

Predictors split 36

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

All CUBN variants

Pathogenic 61

Pathogenic/Likely pathogenic 30

  • c.1230+1G>A Multiple submitters Imerslund-Grasbeck syndrome
  • c.3829+1G>A Multiple submitters Imerslund-Grasbeck syndrome
  • c.6821+3A>G Multiple submitters proteinuria, chronic benign
  • p.Ala1031_Tyr1032insTer Multiple submitters Imerslund-Grasbeck syndrome
  • p.Ala2708_Tyr2709insTer Multiple submitters proteinuria, chronic benign
  • p.Arg1487fs Multiple submitters proteinuria, chronic benign
  • p.Arg1487Ter Multiple submitters Imerslund-Grasbeck syndrome type 1
  • p.Arg1613Ter Multiple submitters Imerslund-Grasbeck syndrome type 1
  • p.Arg1810Ter Multiple submitters Imerslund-Grasbeck syndrome
  • p.Arg2030Ter Multiple submitters Imerslund-Grasbeck syndrome type 1
  • p.Arg2919Ter Multiple submitters Imerslund-Grasbeck syndrome type 1
  • p.Arg3488Ter Multiple submitters proteinuria, chronic benign
  • p.Asn1658fs Multiple submitters proteinuria, chronic benign
  • p.Cys2092Ter Multiple submitters Imerslund-Grasbeck syndrome type 1
  • p.Gln128Ter Multiple submitters Imerslund-Grasbeck syndrome
  • p.Glu2310fs Multiple submitters proteinuria, chronic benign
  • p.Glu3538Ter Multiple submitters proteinuria, chronic benign
  • p.His3438fs Multiple submitters Imerslund-Grasbeck syndrome
  • p.Leu2301Ter Multiple submitters Imerslund-Grasbeck syndrome type 1
  • p.Pro1297Leu Multiple submitters Imerslund-Grasbeck syndrome type 1 ⚠
  • p.Ser3175Ter Multiple submitters proteinuria, chronic benign
  • p.Thr1972fs Multiple submitters proteinuria, chronic benign
  • p.Thr2491fs Multiple submitters proteinuria, chronic benign
  • p.Trp2120Ter Multiple submitters Imerslund-Grasbeck syndrome
  • p.Trp2365Ter Multiple submitters Imerslund-Grasbeck syndrome type 1
  • p.Trp2821Ter Multiple submitters proteinuria, chronic benign
  • p.Trp502Ter Multiple submitters proteinuria, chronic benign
  • p.Tyr1350fs Multiple submitters Imerslund-Grasbeck syndrome type 1
  • p.Tyr1389fs Multiple submitters proteinuria, chronic benign
  • c.3330-439C>G No assertion criteria Imerslund-Grasbeck syndrome

Likely pathogenic 112

  • c.10033-1G>A Multiple submitters CUBN-related disorder
  • c.348+2T>C Multiple submitters Imerslund-Grasbeck syndrome
  • c.4350+2T>C Multiple submitters proteinuria, chronic benign
  • c.4856-1del Multiple submitters proteinuria, chronic benign
  • c.6822-1G>A Multiple submitters Imerslund-Grasbeck syndrome
  • c.7001-2del Multiple submitters proteinuria, chronic benign
  • c.8598+1G>T Multiple submitters Imerslund-Grasbeck syndrome
  • c.9237-1G>C Multiple submitters Imerslund-Grasbeck syndrome
  • c.9454+1G>A Multiple submitters Imerslund-Grasbeck syndrome
  • p.Arg2317Ter Multiple submitters Imerslund-Grasbeck syndrome type 1
  • p.Phe3204fs Multiple submitters Autosomal recessive CUBN-related disorders
  • c.10032+2T>G Single submitter Imerslund-Grasbeck syndrome
  • c.1015+1G>A Single submitter Imerslund-Grasbeck syndrome
  • c.10528+1G>A Single submitter Imerslund-Grasbeck syndrome
  • c.10529-2A>G Single submitter CUBN-related disorder
  • c.2792-1G>T Single submitter proteinuria, chronic benign
  • c.2792-5_2795del Single submitter Imerslund-Grasbeck syndrome type 1
  • c.3008+2_3008+5del Single submitter Imerslund-Grasbeck syndrome
  • c.3329+1G>A Single submitter Imerslund-Grasbeck syndrome
  • c.3672+2T>C Single submitter Imerslund-Grasbeck syndrome type 1
  • c.4169-2A>G Single submitter Imerslund-Grasbeck syndrome
  • c.4351-1G>C Single submitter Imerslund-Grasbeck syndrome type 1
  • c.4525+2T>G Single submitter Imerslund-Grasbeck syndrome
  • c.4691_4695+3del Single submitter Imerslund-Grasbeck syndrome type 1
  • c.4695+1G>T Single submitter Imerslund-Grasbeck syndrome type 1
  • c.4855+1G>A Single submitter Imerslund-Grasbeck syndrome type 1
  • c.4969+1G>A Single submitter Imerslund-Grasbeck syndrome type 1
  • c.4969+2T>G Single submitter Imerslund-Grasbeck syndrome
  • c.5209+1G>A Single submitter Imerslund-Grasbeck syndrome type 1
  • c.5209+2T>C Single submitter Imerslund-Grasbeck syndrome type 1
  • c.5549-1G>A Single submitter Imerslund-Grasbeck syndrome type 1
  • c.5927-1G>A Single submitter Imerslund-Grasbeck syndrome type 1
  • c.6111_6124+76delinsGC Single submitter Imerslund-Grasbeck syndrome
  • c.7001-1del Single submitter Imerslund-Grasbeck syndrome type 1
  • c.7001-1G>T Single submitter
  • c.7001-2A>T Single submitter Imerslund-Grasbeck syndrome
  • c.8063-1G>A Single submitter Imerslund-Grasbeck syndrome
  • c.8185-2A>C Single submitter proteinuria, chronic benign
  • c.8598+1_8598+5del Single submitter Imerslund-Grasbeck syndrome
  • c.8755+2T>C Single submitter Imerslund-Grasbeck syndrome
  • c.8756-2A>G Single submitter Imerslund-Grasbeck syndrome type 1
  • c.884-1G>A Single submitter Imerslund-Grasbeck syndrome
  • c.9237-2A>G Single submitter Imerslund-Grasbeck syndrome type 1
  • c.9455-1G>A Single submitter proteinuria, chronic benign
  • c.9664-2A>C Single submitter Imerslund-Grasbeck syndrome type 1
  • p.Ala1724fs Single submitter Imerslund-Grasbeck syndrome type 1
  • p.Asp3416fs Single submitter Imerslund-Grasbeck syndrome type 1
  • p.Cys2831Ter Single submitter Imerslund-Grasbeck syndrome type 1
  • p.Cys3185fs Single submitter Imerslund-Grasbeck syndrome type 1
  • p.Cys3537Ter Single submitter proteinuria, chronic benign
  • p.Cys474fs Single submitter Imerslund-Grasbeck syndrome type 1
  • p.Gln2262Ter Single submitter Imerslund-Grasbeck syndrome type 1
  • p.Gln2305Ter Single submitter Imerslund-Grasbeck syndrome type 1
  • p.Gln2335Ter Single submitter
  • p.Gln3149Ter Single submitter Imerslund-Grasbeck syndrome type 1
  • p.Gln3429fs Single submitter proteinuria, chronic benign
  • p.Gln472fs Single submitter Imerslund-Grasbeck syndrome type 1
  • p.Glu3447Ter Single submitter Imerslund-Grasbeck syndrome type 1
  • p.Gly2309fs Single submitter Imerslund-Grasbeck syndrome type 1
  • p.Gly69Ter Single submitter proteinuria, chronic benign
  • p.His1806fs Single submitter Imerslund-Grasbeck syndrome type 1
  • p.His2324fs Single submitter proteinuria, chronic benign
  • p.His685fs Single submitter Imerslund-Grasbeck syndrome type 1
  • p.Ile1850fs Single submitter
  • p.Ile2931fs Single submitter Imerslund-Grasbeck syndrome type 1
  • p.Leu1220Ter Single submitter Imerslund-Grasbeck syndrome type 1
  • p.Leu1692fs Single submitter Imerslund-Grasbeck syndrome type 1
  • p.Leu3096Pro Single submitter Imerslund-Grasbeck syndrome type 1
  • p.Phe1780fs Single submitter proteinuria, chronic benign
  • p.Phe2382_Lys2392delinsTer Single submitter Imerslund-Grasbeck syndrome type 1
  • p.Phe2382fs Single submitter Imerslund-Grasbeck syndrome type 1
  • p.Pro2485fs Single submitter CUBN-related disorder
  • p.Pro2657delinsLeuTyrLeuIleTer Single submitter proteinuria, chronic benign
  • p.Pro833fs Single submitter Imerslund-Grasbeck syndrome type 1
  • p.Ser2702fs Single submitter proteinuria, chronic benign
  • p.Ser2785Ter Single submitter Imerslund-Grasbeck syndrome type 1
  • p.Thr2897fs Single submitter Imerslund-Grasbeck syndrome type 1
  • p.Thr859fs Single submitter Imerslund-Grasbeck syndrome type 1
  • p.Trp1960Ter Single submitter Imerslund-Grasbeck syndrome type 1
  • p.Trp2666_His2668delinsTer Single submitter Imerslund-Grasbeck syndrome type 1
  • p.Trp3308Arg Single submitter Imerslund-Grasbeck syndrome type 1
  • p.Tyr1452Ter Single submitter Imerslund-Grasbeck syndrome type 1
  • p.Tyr2357Ter Single submitter Imerslund-Grasbeck syndrome type 1
  • p.Tyr2468fs Single submitter Imerslund-Grasbeck syndrome type 1
  • p.Tyr2705delinsLeuTer Single submitter Imerslund-Grasbeck syndrome type 1
  • p.Val3186fs Single submitter Imerslund-Grasbeck syndrome type 1
  • p.Val860fs Single submitter Imerslund-Grasbeck syndrome type 1
  • c.252+1G>A No assertion criteria Imerslund-Grasbeck syndrome
  • c.3330-2A>G No assertion criteria CUBN-related disorder
  • c.5549-2A>C No assertion criteria Imerslund-Grasbeck syndrome
  • c.7534-1G>T No assertion criteria Imerslund-Grasbeck syndrome
  • p.Arg651Ter No assertion criteria Imerslund-Grasbeck syndrome
  • p.Cys225Ser No assertion criteria Imerslund-Grasbeck syndrome
  • p.Gln297Ter No assertion criteria Imerslund-Grasbeck syndrome
  • p.Gln3317Ter No assertion criteria Imerslund-Grasbeck syndrome
  • p.Gln758Ter No assertion criteria CUBN-related disorder
  • p.Gln84Ter No assertion criteria Imerslund-Grasbeck syndrome
  • p.Gly1390Ser No assertion criteria Imerslund-Grasbeck syndrome ⚠
  • p.Gly145Glu No assertion criteria Imerslund-Grasbeck syndrome
  • p.Gly509fs No assertion criteria Imerslund-Grasbeck syndrome
  • p.Gly613fs No assertion criteria Imerslund-Grasbeck syndrome
  • p.Ile690Val No assertion criteria Imerslund-Grasbeck syndrome ⚠
  • p.Lys163= No assertion criteria Imerslund-Grasbeck syndrome
  • p.Lys510= No assertion criteria Imerslund-Grasbeck syndrome
  • p.Ser1019Ter No assertion criteria Imerslund-Grasbeck syndrome
  • p.Ser1250Phe No assertion criteria Imerslund-Grasbeck syndrome
  • p.Ser479Ter No assertion criteria Imerslund-Grasbeck syndrome
  • p.Ser829Leu No assertion criteria Imerslund-Grasbeck syndrome
  • p.Thr1372Arg No assertion criteria Imerslund-Grasbeck syndrome ⚠
  • p.Trp1193Gly No assertion criteria Imerslund-Grasbeck syndrome
  • p.Tyr1641fs No assertion criteria Imerslund-Grasbeck syndrome
  • p.Tyr983Ter No assertion criteria Imerslund-Grasbeck syndrome

Conflicting classifications of pathogenicity 137

Benign 244

Benign/Likely benign 65

  • c.10033-17C>T Multiple submitters Imerslund-Grasbeck syndrome
  • c.1530+12A>C Multiple submitters Imerslund-Grasbeck syndrome type 1
  • c.2110+18T>C Multiple submitters proteinuria, chronic benign
  • c.2791+9_2791+16del Multiple submitters proteinuria, chronic benign
  • c.2792-6C>G Multiple submitters Imerslund-Grasbeck syndrome
  • c.3009-29C>A Multiple submitters
  • c.348+17C>T Multiple submitters Imerslund-Grasbeck syndrome
  • c.5080+17T>C Multiple submitters Imerslund-Grasbeck syndrome
  • c.5210-7C>G Multiple submitters proteinuria, chronic benign
  • c.6462+19C>G Multiple submitters proteinuria, chronic benign
  • c.6463-24T>G Multiple submitters
  • c.8411-14T>C Multiple submitters Imerslund-Grasbeck syndrome
  • c.*151G>A Multiple submitters Imerslund-Grasbeck syndrome type 1
  • c.*45C>T Multiple submitters Imerslund-Grasbeck syndrome type 1
  • c.*93C>A Multiple submitters Imerslund-Grasbeck syndrome type 1
  • p.Ala1098Ser Multiple submitters Imerslund-Grasbeck syndrome type 1
  • p.Ala2914Val Multiple submitters Imerslund-Grasbeck syndrome
  • p.Ala335Thr Multiple submitters Imerslund-Grasbeck syndrome type 1
  • p.Arg1671= Multiple submitters proteinuria, chronic benign
  • p.Arg2030Gln Multiple submitters Imerslund-Grasbeck syndrome type 1
  • p.Asn172= Multiple submitters Imerslund-Grasbeck syndrome type 1
  • p.Asn2157Asp Multiple submitters Imerslund-Grasbeck syndrome
  • p.Asn3042Ser Multiple submitters Imerslund-Grasbeck syndrome type 1
  • p.Asn3552= Multiple submitters Imerslund-Grasbeck syndrome
  • p.Asn857= Multiple submitters Imerslund-Grasbeck syndrome type 1
  • p.Asp1700Asn Multiple submitters Imerslund-Grasbeck syndrome type 1
  • p.Asp2455Glu Multiple submitters Imerslund-Grasbeck syndrome type 1
  • p.Cys2092= Multiple submitters Imerslund-Grasbeck syndrome type 1
  • p.Glu2623Ala Multiple submitters Imerslund-Grasbeck syndrome
  • p.Glu2968Gln Multiple submitters Imerslund-Grasbeck syndrome
  • p.Glu304Lys Multiple submitters Imerslund-Grasbeck syndrome type 1
  • p.Gly1400= Multiple submitters Imerslund-Grasbeck syndrome
  • p.Gly3114Ser Multiple submitters Imerslund-Grasbeck syndrome type 1
  • p.Gly3587Arg Multiple submitters Imerslund-Grasbeck syndrome type 1
  • p.Ile1894Val Multiple submitters Imerslund-Grasbeck syndrome type 1
  • p.Ile2760Thr Multiple submitters Imerslund-Grasbeck syndrome
  • p.Ile3068= Multiple submitters Imerslund-Grasbeck syndrome
  • p.Ile3189Val Multiple submitters Imerslund-Grasbeck syndrome type 1
  • p.Leu1557= Multiple submitters Imerslund-Grasbeck syndrome
  • p.Phe1176= Multiple submitters proteinuria, chronic benign
  • p.Phe1716= Multiple submitters proteinuria, chronic benign
  • p.Phe728Leu Multiple submitters Imerslund-Grasbeck syndrome type 1
  • p.Phe974= Multiple submitters proteinuria, chronic benign
  • p.Pro1971Thr Multiple submitters Imerslund-Grasbeck syndrome type 1
  • p.Pro2013= Multiple submitters proteinuria, chronic benign
  • p.Pro321= Multiple submitters Imerslund-Grasbeck syndrome type 1
  • p.Pro490= Multiple submitters Imerslund-Grasbeck syndrome
  • p.Pro672= Multiple submitters proteinuria, chronic benign
  • p.Ser1251Thr Multiple submitters Imerslund-Grasbeck syndrome type 1
  • p.Ser1404= Multiple submitters proteinuria, chronic benign
  • p.Ser1736Leu Multiple submitters Imerslund-Grasbeck syndrome type 1
  • p.Ser2075= Multiple submitters Imerslund-Grasbeck syndrome
  • p.Ser2308= Multiple submitters Imerslund-Grasbeck syndrome
  • p.Ser3164Trp Multiple submitters Imerslund-Grasbeck syndrome
  • p.Ser3329= Multiple submitters Imerslund-Grasbeck syndrome
  • p.Ser3329Leu Multiple submitters Imerslund-Grasbeck syndrome type 1
  • p.Ser3461= Multiple submitters Imerslund-Grasbeck syndrome type 1
  • p.Ser865Asn Multiple submitters Imerslund-Grasbeck syndrome type 1
  • p.Thr1490= Multiple submitters proteinuria, chronic benign
  • p.Thr701= Multiple submitters proteinuria, chronic benign
  • p.Thr893Ala Multiple submitters Imerslund-Grasbeck syndrome
  • p.Tyr598= Multiple submitters Imerslund-Grasbeck syndrome type 1
  • p.Val3423Ile Multiple submitters Inborn genetic diseases
  • p.Val753Met Multiple submitters Inborn genetic diseases
  • p.Val815= Multiple submitters Imerslund-Grasbeck syndrome type 1

Likely benign 642

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

Uncertain significance 1238

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