Sugi Variant

Sugi Variant/PIEZO2

PIEZO2 — 1513 ClinVar variants

All ClinVar germline PIEZO2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 437 flagged for review →

56 Pathogenic · 13 Pathogenic/Likely pathogenic · 74 Likely pathogenic · 61 Conflicting · 244 Benign · 38 Benign/Likely benign · 313 Likely benign · 714 Uncertain significance

Full PIEZO2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 437

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 33

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

Predictors lean, ClinVar uncertain 361

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 361

Predictors split 42

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

All PIEZO2 variants

Pathogenic 56

  • c.5257-1G>A Multiple submitters arthrogryposis, distal, with impaired proprioception and touch
  • p.Arg2799His Multiple submitters arthrogryposis
  • p.Glu2603Ter Multiple submitters Gordon syndrome
  • p.Glu2840del Multiple submitters Inborn genetic diseases
  • p.Thr2205fs Multiple submitters Gordon syndrome
  • c.1080+1G>A Single submitter
  • c.1080+1G>C Single submitter arthrogryposis, distal, with impaired proprioception and touch
  • c.1882+1G>A Single submitter arthrogryposis, distal, with impaired proprioception and touch
  • c.2170-2A>C Single submitter arthrogryposis, distal, with impaired proprioception and touch
  • c.6828-8_6829del Single submitter arthrogryposis, distal, with impaired proprioception and touch
  • c.704-2A>G Single submitter arthrogryposis, distal, with impaired proprioception and touch
  • c.8161+1G>A Single submitter arthrogryposis, distal, with impaired proprioception and touch
  • p.Ala899fs Single submitter arthrogryposis, distal, with impaired proprioception and touch
  • p.Arg1163Ter Single submitter arthrogryposis, distal, with impaired proprioception and touch
  • p.Arg1504Ter Single submitter
  • p.Arg1664fs Single submitter
  • p.Arg2675Ter Single submitter
  • p.Arg384fs Single submitter
  • p.Arg462Ter Single submitter fetal akinesia deformation sequence 1
  • p.Arg537fs Single submitter arthrogryposis, distal, with impaired proprioception and touch
  • p.Asn1299fs Single submitter
  • p.Asn2638fs Single submitter Inborn genetic diseases
  • p.Cys1195Ter Single submitter
  • p.Cys1209Ter Single submitter arthrogryposis, distal, with impaired proprioception and touch
  • p.Cys691Ter Single submitter arthrogryposis, distal, with impaired proprioception and touch
  • p.Gln145Ter Single submitter
  • p.Gln2241Ter Single submitter
  • p.Gln2548Ter Single submitter arthrogryposis, distal, with impaired proprioception and touch
  • p.Gln2650fs Single submitter arthrogryposis, distal, with impaired proprioception and touch
  • p.Glu1891Ter Single submitter arthrogryposis, distal, with impaired proprioception and touch
  • p.Glu1951fs Single submitter
  • p.Glu2396Ter Single submitter arthrogryposis, distal, with impaired proprioception and touch
  • p.Glu642Ter Single submitter arthrogryposis, distal, with impaired proprioception and touch
  • p.Ile1484_Val1485insTer Single submitter Inborn genetic diseases
  • p.Ile791Lys Single submitter arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
  • p.Leu1987fs Single submitter arthrogryposis, distal, with impaired proprioception and touch
  • p.Phe1350fs Single submitter
  • p.Pro1032fs Single submitter arthrogryposis, distal, with impaired proprioception and touch
  • p.Pro1924fs Single submitter
  • p.Ser1873Ter Single submitter
  • p.Ser517fs Single submitter arthrogryposis, distal, with impaired proprioception and touch
  • p.Thr1415fs Single submitter arthrogryposis, distal, with impaired proprioception and touch
  • p.Trp1236Ter Single submitter
  • p.Trp355Ter Single submitter
  • p.Tyr2703Ter Single submitter Abnormality of the skeletal system
  • p.Tyr895fs Single submitter
  • p.Arg1743Pro No assertion criteria arthrogryposis, distal, with impaired proprioception and touch
  • p.Arg2831Leu No assertion criteria arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
  • p.Ile802Phe No assertion criteria arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
  • p.Met1023Thr No assertion criteria arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
  • p.Ser2336Leu No assertion criteria arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
  • p.Ser2852Pro No assertion criteria arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
  • p.Ser928Ter No assertion criteria arthrogryposis, distal, with impaired proprioception and touch
  • p.Thr2334Ile No assertion criteria arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
  • p.Trp2859_Glu2862delinsTer No assertion criteria Gordon syndrome
  • p.Tyr2850fs No assertion criteria arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome

Pathogenic/Likely pathogenic 13

  • c.3756_3757+2del Multiple submitters arthrogryposis, distal, with impaired proprioception and touch
  • p.Arg1600Ter Multiple submitters arthrogryposis, distal, with impaired proprioception and touch
  • p.Arg1743Ter Multiple submitters arthrogryposis, distal, with impaired proprioception and touch
  • p.Arg2799Cys Multiple submitters Gordon syndrome
  • p.Arg2799Gly Multiple submitters Gordon syndrome
  • p.Asp1694fs Multiple submitters arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
  • p.Cys1260fs Multiple submitters Inborn genetic diseases
  • p.Leu554Ter Multiple submitters
  • p.Lys1592fs Multiple submitters FAM38B-related disorder
  • p.Met1023Ile Multiple submitters arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
  • p.Met712Val Multiple submitters PIEZO2-related disorder
  • p.Ser908fs Multiple submitters arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
  • p.Trp2859Ter Multiple submitters PIEZO2-related disorder

Likely pathogenic 74

  • c.1528-1G>A Multiple submitters arthrogryposis, distal, with impaired proprioception and touch
  • c.4708+2T>G Multiple submitters arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
  • c.7686+1G>C Multiple submitters
  • p.Arg26Ter Multiple submitters arthrogryposis, distal, with impaired proprioception and touch
  • p.Gly2519Arg Multiple submitters Autosomal dominant and autosomal recessive PIEZO2-related disorders
  • p.Pro92fs Multiple submitters arthrogryposis, distal, with impaired proprioception and touch
  • c.1201-2A>G Single submitter arthrogryposis, distal, with impaired proprioception and touch
  • c.1378+1G>A Single submitter
  • c.1379-1G>A Single submitter Marden-Walker syndrome
  • c.1527+2T>C Single submitter arthrogryposis, distal, with impaired proprioception and touch
  • c.3249+1G>C Single submitter
  • c.329+2T>G Single submitter
  • c.3923+1G>T Single submitter arthrogryposis, distal, with impaired proprioception and touch
  • c.4167+1G>C Single submitter Inborn genetic diseases
  • c.4264+1G>A Single submitter arthrogryposis, distal, with impaired proprioception and touch
  • c.4515-28_4515del Single submitter
  • c.493-2A>C Single submitter PIEZO2-related disorder
  • c.64+1G>A Single submitter Congenital ichthyosiform erythroderma
  • c.704-1G>T Single submitter
  • c.7190+1G>A Single submitter
  • c.7779+1G>A Single submitter
  • p.1485VKA[1] Single submitter heterotaxy, visceral, 4, autosomal
  • p.Ala349fs Single submitter arthrogryposis, distal, with impaired proprioception and touch
  • p.Arg1108Ter Single submitter arthrogryposis, distal, with impaired proprioception and touch
  • p.Arg1308Lys Single submitter
  • p.Arg1661fs Single submitter
  • p.Arg2019Ter Single submitter arthrogryposis, distal, with impaired proprioception and touch
  • p.Arg2143Ter Single submitter
  • p.Arg2831Gln Single submitter Gordon syndrome
  • p.Gln1559fs Single submitter
  • p.Gln2628fs Single submitter Marden-Walker syndrome
  • p.Gln755Ter Single submitter PIEZO2-related disorder
  • p.Glu163Lys Single submitter PIEZO2-related disorder ⚠
  • p.Glu4Ter Single submitter arthrogryposis, distal, with impaired proprioception and touch
  • p.Glu668fs Single submitter arthrogryposis, distal, with impaired proprioception and touch
  • p.Glu889Ter Single submitter PIEZO2-related disorder
  • p.Gly117fs Single submitter Gordon syndrome
  • p.Gly128Arg Single submitter arthrogryposis, distal, with impaired proprioception and touch
  • p.Gly2518fs Single submitter arthrogryposis, distal, with impaired proprioception and touch
  • p.Gly2560fs Single submitter
  • p.Gly581Ter Single submitter Gordon syndrome
  • p.Ile2490_Leu2491insTer Single submitter arthrogryposis, distal, with impaired proprioception and touch
  • p.Ile791Leu Single submitter arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
  • p.Leu1388Pro Single submitter Inborn genetic diseases
  • p.Leu2370fs Single submitter arthrogryposis, distal, with impaired proprioception and touch
  • p.Leu253fs Single submitter
  • p.Leu2829fs Single submitter
  • p.Leu59fs Single submitter PIEZO2-related disorder
  • p.Lys2000Ter Single submitter arthrogryposis, distal, with impaired proprioception and touch
  • p.Met2349fs Single submitter arthrogryposis, distal, with impaired proprioception and touch
  • p.Phe495Cys Single submitter Gordon syndrome
  • p.Phe589fs Single submitter arthrogryposis, distal, with impaired proprioception and touch
  • p.Pro2345Arg Single submitter PIEZO2-related disorder
  • p.Ser2195Ter Single submitter PIEZO2-related disorder
  • p.Ser2537fs Single submitter arthrogryposis, distal, with impaired proprioception and touch
  • p.Ser2803Arg Single submitter PIEZO2-related disorder
  • p.Ser500fs Single submitter
  • p.Ser615Ter Single submitter
  • p.Ser621fs Single submitter arthrogryposis, distal, with impaired proprioception and touch
  • p.Thr816fs Single submitter PIEZO2-related disorder
  • p.Trp2152Ter Single submitter PIEZO2-related disorder
  • p.Trp2478Ter Single submitter arthrogryposis, distal, with impaired proprioception and touch
  • p.Trp526Ter Single submitter arthrogryposis, distal, with impaired proprioception and touch
  • p.Tyr2440Ter Single submitter
  • p.Tyr2850Ter Single submitter PIEZO2-related disorder
  • p.Tyr390Ter Single submitter
  • p.Val1884fs Single submitter Marden-Walker syndrome
  • p.Val2350Ala Single submitter
  • c.287delG No assertion criteria PIEZO2-related disorder
  • c.3450+2T>G No assertion criteria arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
  • p.Glu1053Ter No assertion criteria PIEZO2-related disorder
  • p.Trp137Ter No assertion criteria Hypotonia
  • p.Trp2408Arg No assertion criteria PIEZO2-related disorder
  • p.Trp257Ter No assertion criteria Gordon syndrome

Conflicting classifications of pathogenicity 61

Benign 244

Benign/Likely benign 38

Likely benign 313

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

Uncertain significance 714

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