RETREG1 — 417 ClinVar variants
All ClinVar germline RETREG1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 177 flagged for review →
15 Pathogenic · 5 Likely pathogenic · 11 Conflicting · 37 Benign · 5 Benign/Likely benign · 129 Likely benign · 215 Uncertain significance
Full RETREG1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 177
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 agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
RETREG1 p.Arg127His
Conflicting
Single submitter
Inborn genetic diseases
-
RETREG1 p.Pro338Leu
Conflicting
Single submitter
neuropathy, hereditary sensory and autonomic, type 2B
Predictors lean, ClinVar uncertain 144
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
RETREG1 p.Arg148Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RETREG1 p.Arg266Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RETREG1 p.Arg266His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RETREG1 p.Arg268Thr
Uncertain significance
Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
-
RETREG1 p.Arg385Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RETREG1 p.Arg94Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
- RETREG1 p.Asn316Ser Uncertain significance Multiple submitters
-
RETREG1 p.Asp333Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RETREG1 p.Asp363Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RETREG1 p.Asp403Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RETREG1 p.Asp84Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RETREG1 p.Cys170Ser
Uncertain significance
Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2A
-
RETREG1 p.Cys235Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RETREG1 p.Gln145Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RETREG1 p.Glu155Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- RETREG1 p.Glu259Gln Uncertain significance Multiple submitters
-
RETREG1 p.Glu270Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RETREG1 p.Glu389Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RETREG1 p.Glu451Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RETREG1 p.Glu8Lys
Uncertain significance
Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2B
-
RETREG1 p.Gly211Arg
Uncertain significance
Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2B
- RETREG1 p.Gly358Val Uncertain significance Multiple submitters
-
RETREG1 p.His497Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RETREG1 p.Ile132Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RETREG1 p.Ile417Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RETREG1 p.Leu119Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RETREG1 p.Leu187Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RETREG1 p.Leu199Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RETREG1 p.Leu224Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RETREG1 p.Leu229Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RETREG1 p.Leu97Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RETREG1 p.Pro441Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- RETREG1 p.Ser153Gly Uncertain significance Multiple submitters
-
RETREG1 p.Ser281Gly
Uncertain significance
Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2B
-
RETREG1 p.Ser344Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RETREG1 p.Ser410Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RETREG1 p.Thr390Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RETREG1 p.Thr405Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RETREG1 p.Thr473Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RETREG1 p.Trp78Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RETREG1 p.Tyr213Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RETREG1 p.Val308Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RETREG1 p.Ala19Ser
Uncertain significance
Single submitter
neuropathy, hereditary sensory and autonomic, type 2B
- RETREG1 p.Ala287Thr Uncertain significance Single submitter
-
RETREG1 p.Ala413Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- RETREG1 p.Ala435Thr Uncertain significance Single submitter
-
RETREG1 p.Ala435Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
RETREG1 p.Ala439Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- RETREG1 p.Ala478Val Uncertain significance Single submitter
- RETREG1 p.Arg127Gly Uncertain significance Single submitter
-
RETREG1 p.Arg148Gly
Uncertain significance
Single submitter
neuropathy, hereditary sensory and autonomic, type 2B
- RETREG1 p.Arg268Ser Uncertain significance Single submitter
- RETREG1 p.Arg337Gln Uncertain significance Single submitter
- RETREG1 p.Arg82Ser Uncertain significance Single submitter
- RETREG1 p.Asn355Tyr Uncertain significance Single submitter
-
RETREG1 p.Asn411Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- RETREG1 p.Asn483Ser Uncertain significance Single submitter
- RETREG1 p.Asp135Asn Uncertain significance Single submitter
- RETREG1 p.Asp135His Uncertain significance Single submitter
- RETREG1 p.Asp162Glu Uncertain significance Single submitter
-
RETREG1 p.Asp279Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- RETREG1 p.Asp349Gly Uncertain significance Single submitter
-
RETREG1 p.Asp446Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
RETREG1 p.Asp464Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
RETREG1 p.Cys235Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- RETREG1 p.Gln328Leu Uncertain significance Single submitter
- RETREG1 p.Gln379His Uncertain significance Single submitter
-
RETREG1 p.Gln391Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- RETREG1 p.Gln404Pro Uncertain significance Single submitter
-
RETREG1 p.Gln434Glu
Uncertain significance
Single submitter
neuropathy, hereditary sensory and autonomic, type 2B
- RETREG1 p.Gln460Glu Uncertain significance Single submitter
- RETREG1 p.Gln476Glu Uncertain significance Single submitter
- RETREG1 p.Gln481His Uncertain significance Single submitter
-
RETREG1 p.Glu163Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- RETREG1 p.Glu274Gly Uncertain significance Single submitter
- RETREG1 p.Glu364Val Uncertain significance Single submitter
-
RETREG1 p.Glu389Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- RETREG1 p.Glu430Asp Uncertain significance Single submitter
-
RETREG1 p.Glu445Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- RETREG1 p.Glu467Gly Uncertain significance Single submitter
- RETREG1 p.Gly358Arg Uncertain significance Single submitter
-
RETREG1 p.Gly395Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
RETREG1 p.Gly54Arg
Uncertain significance
Single submitter
neuropathy, hereditary sensory and autonomic, type 2B
- RETREG1 p.His169Tyr Uncertain significance Single submitter
- RETREG1 p.His384Gln Uncertain significance Single submitter
- RETREG1 p.His407Tyr Uncertain significance Single submitter
-
RETREG1 p.Ile157Val
Uncertain significance
Single submitter
Inborn genetic diseases
- RETREG1 p.Ile180Val Uncertain significance Single submitter
-
RETREG1 p.Ile238Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- RETREG1 p.Ile242Thr Uncertain significance Single submitter
- RETREG1 p.Ile246Met Uncertain significance Single submitter
-
RETREG1 p.Leu111Val
Uncertain significance
Single submitter
Inborn genetic diseases
- RETREG1 p.Leu125Ile Uncertain significance Single submitter
-
RETREG1 p.Leu210Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- RETREG1 p.Leu223Pro Uncertain significance Single submitter
- RETREG1 p.Leu294Pro Uncertain significance Single submitter
-
RETREG1 p.Leu369Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
RETREG1 p.Leu369Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- RETREG1 p.Leu396Pro Uncertain significance Single submitter
- RETREG1 p.Leu472Pro Uncertain significance Single submitter
- RETREG1 p.Leu77Pro Uncertain significance Single submitter
- RETREG1 p.Lys245Arg Uncertain significance Single submitter
- RETREG1 p.Lys278Glu Uncertain significance Single submitter
- RETREG1 p.Lys291Glu Uncertain significance Single submitter
-
RETREG1 p.Met123Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
RETREG1 p.Met130Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- RETREG1 p.Met409Thr Uncertain significance Single submitter
- RETREG1 p.Phe206Ile Uncertain significance Single submitter
- RETREG1 p.Pro113Gln Uncertain significance Single submitter
- RETREG1 p.Pro165Leu Uncertain significance Single submitter
- RETREG1 p.Pro231Ala Uncertain significance Single submitter
-
RETREG1 p.Pro34Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- RETREG1 p.Pro351Ser Uncertain significance Single submitter
- RETREG1 p.Pro386Ser Uncertain significance Single submitter
- RETREG1 p.Pro386Thr Uncertain significance Single submitter
- RETREG1 p.Pro75Arg Uncertain significance Single submitter
- RETREG1 p.Ser168Gly Uncertain significance Single submitter
- RETREG1 p.Ser179Gly Uncertain significance Single submitter
- RETREG1 p.Ser202Arg Uncertain significance Single submitter
- RETREG1 p.Ser248Leu Uncertain significance Single submitter
- RETREG1 p.Ser269Cys Uncertain significance Single submitter
- RETREG1 p.Ser269Thr Uncertain significance Single submitter
-
RETREG1 p.Ser352Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- RETREG1 p.Ser410Asn Uncertain significance Single submitter
- RETREG1 p.Ser88Asn Uncertain significance Single submitter
- RETREG1 p.Thr208Met Uncertain significance Single submitter
-
RETREG1 p.Thr295Met
Uncertain significance
Single submitter
Inborn genetic diseases
- RETREG1 p.Thr326Ser Uncertain significance Single submitter
- RETREG1 p.Thr331Ile Uncertain significance Single submitter
- RETREG1 p.Thr331Pro Uncertain significance Single submitter
-
RETREG1 p.Thr359Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- RETREG1 p.Thr447Ile Uncertain significance Single submitter
- RETREG1 p.Thr449Ser Uncertain significance Single submitter
- RETREG1 p.Thr473Ile Uncertain significance Single submitter
- RETREG1 p.Tyr243His Uncertain significance Single submitter
- RETREG1 p.Tyr325Asp Uncertain significance Single submitter
- RETREG1 p.Val116Ile Uncertain significance Single submitter
- RETREG1 p.Val122Ile Uncertain significance Single submitter
- RETREG1 p.Val156Phe Uncertain significance Single submitter
- RETREG1 p.Val217Leu Uncertain significance Single submitter
- RETREG1 p.Val249Ile Uncertain significance Single submitter
- RETREG1 p.Val303Met Uncertain significance Single submitter
- RETREG1 p.Val308Asp Uncertain significance Single submitter
- RETREG1 p.Val421Ala Uncertain significance Single submitter
Predictors split 31
The independent predictors disagree with each other — read with care.
-
RETREG1 p.Met185Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RETREG1 p.Ser95Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RETREG1 p.Trp107Cys
Uncertain significance
Multiple submitters
neuropathy, hereditary sensory and autonomic, type 2B
- RETREG1 p.Trp114Arg Uncertain significance Multiple submitters
- RETREG1 p.Ala419Pro Uncertain significance Single submitter
- RETREG1 p.Arg266Pro Uncertain significance Single submitter
- RETREG1 p.Asn103Ser Uncertain significance Single submitter
- RETREG1 p.Asp284Tyr Uncertain significance Single submitter
-
RETREG1 p.Gln263Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
RETREG1 p.Gln460His
Uncertain significance
Single submitter
Inborn genetic diseases
-
RETREG1 p.Glu184Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- RETREG1 p.Glu323Val Uncertain significance Single submitter
- RETREG1 p.Gly126Glu Uncertain significance Single submitter
- RETREG1 p.Gly143Asp Uncertain significance Single submitter
- RETREG1 p.Gly256Glu Uncertain significance Single submitter
-
RETREG1 p.Ile466Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- RETREG1 p.Leu288Pro Uncertain significance Single submitter
- RETREG1 p.Leu97His Uncertain significance Single submitter
- RETREG1 p.Lys247Asn Uncertain significance Single submitter
- RETREG1 p.Met409Arg Uncertain significance Single submitter
-
RETREG1 p.Phe99Leu
Uncertain significance
Single submitter
neuropathy, hereditary sensory and autonomic, type 2B
- RETREG1 p.Pro231Ser Uncertain significance Single submitter
-
RETREG1 p.Ser192Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- RETREG1 p.Ser293Arg Uncertain significance Single submitter
- RETREG1 p.Ser302Phe Uncertain significance Single submitter
- RETREG1 p.Ser302Pro Uncertain significance Single submitter
- RETREG1 p.Ser322Pro Uncertain significance Single submitter
- RETREG1 p.Ser88Arg Uncertain significance Single submitter
-
RETREG1 p.Trp147Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- RETREG1 p.Trp147Cys Uncertain significance Single submitter
-
RETREG1 p.Val303Gly
Uncertain significance
Single submitter
Inborn genetic diseases
All RETREG1 variants
Pathogenic 15
- p.Gln145Ter Multiple submitters neuropathy, hereditary sensory and autonomic, type 2B
- p.Glu12Ter Multiple submitters neuropathy, hereditary sensory and autonomic, type 2B
- p.Ser309Ter Multiple submitters neuropathy, hereditary sensory and autonomic, type 2B
- c.458+2T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2B
- c.873+2T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2B
- p.Gln191Ter Single submitter
- p.Gln263Ter Single submitter
- p.Glu184fs Single submitter
- p.Glu274fs Single submitter
- p.Leu138Ter Single submitter
- p.Thr208delinsPhePhePhePhePhePheXaaXaaXaaXaaLeuThrSerTer Single submitter
- p.Trp107Ter Single submitter
- p.Trp147Ter Single submitter
- p.Trp78Ter Single submitter
- p.Tyr243fs Single submitter
Likely pathogenic 5
- c.320+2T>G Single submitter
- c.321-1G>A Single submitter
- c.321-2_321delinsTGT Single submitter Inborn genetic diseases
- c.427+1G>C Single submitter
- p.Glu259Ter Single submitter neuropathy, hereditary sensory and autonomic, type 2B
Conflicting classifications of pathogenicity 11
- c.321-10G>A Single submitter neuropathy, hereditary sensory and autonomic, type 2B
- p.Ala394= Single submitter Inborn genetic diseases
- p.Arg127His Single submitter Inborn genetic diseases ⚠
- p.Asp363= Single submitter Inborn genetic diseases
- p.Glu300= Single submitter neuropathy, hereditary sensory and autonomic, type 2B
- p.Leu250= Single submitter Inborn genetic diseases
- p.Leu493= Single submitter neuropathy, hereditary sensory and autonomic, type 2B
- p.Lys241= Single submitter Inborn genetic diseases
- p.Pro338Leu Single submitter neuropathy, hereditary sensory and autonomic, type 2B ⚠
- p.Ser88= Single submitter neuropathy, hereditary sensory and autonomic, type 2B
- p.Ser276fs No assertion criteria hereditary sensory and autonomic neuropathy type 2
Benign 37
- c.1000+20G>T Multiple submitters neuropathy, hereditary sensory and autonomic, type 2B
- c.1001-17T>C Multiple submitters neuropathy, hereditary sensory and autonomic, type 2B
- c.428-29G>C Multiple submitters
- c.428-82C>T Multiple submitters
- c.459-25093T>C Multiple submitters neuropathy, hereditary sensory and autonomic, type 2B
- c.459-25317A>G Multiple submitters
- c.459-25602T>C Multiple submitters
- c.670+56G>A Multiple submitters
- c.671-124T>C Multiple submitters
- c.671-16C>G Multiple submitters
- c.671-55T>C Multiple submitters
- c.873+23T>C Multiple submitters neuropathy, hereditary sensory and autonomic, type 2B
- c.873+60C>T Multiple submitters
- c.874-27C>T Multiple submitters
- c.-19T>C Multiple submitters neuropathy, hereditary sensory and autonomic, type 2B
- c.*1012G>A Multiple submitters neuropathy, hereditary sensory and autonomic, type 2B
- c.*206A>C Multiple submitters neuropathy, hereditary sensory and autonomic, type 2B
- c.*592G>A Multiple submitters neuropathy, hereditary sensory and autonomic, type 2B
- p.Asp272= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2B
- p.Cys201= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2B
- p.Ser382Thr Multiple submitters neuropathy, hereditary sensory and autonomic, type 2B
- c.1000+198A>G Single submitter
- c.1000+248G>A Single submitter
- c.1001-210T>C Single submitter
- c.321-112del Single submitter
- c.321-128dup Single submitter
- c.321-220G>A Single submitter
- c.428-310G>A Single submitter
- c.459-25249del Single submitter
- c.459-25582_459-25581dup Single submitter
- c.459-25582dup Single submitter
- c.459-25755C>T Single submitter
- c.873+9del Single submitter
- c.*235C>A Single submitter neuropathy, hereditary sensory and autonomic, type 2B
- c.*71dup Single submitter
- p.Gly356= Single submitter
- p.Val76= Single submitter
Benign/Likely benign 5
- c.459-17dup Multiple submitters
- p.Arg127Cys Multiple submitters Inborn genetic diseases
- p.Gln379Glu Multiple submitters neuropathy, hereditary sensory and autonomic, type 2B
- p.Leu146= Multiple submitters neuropathy, hereditary sensory and autonomic, type 2B
- p.Val203Met Multiple submitters Inborn genetic diseases
Likely benign 129
- c.321-11C>T Multiple submitters
- c.428-177C>T Multiple submitters
- c.428-271C>T Multiple submitters
- c.458+19G>A Multiple submitters
- c.586-150T>G Multiple submitters
- p.Asp284= Multiple submitters
- p.Leu412= Multiple submitters Inborn genetic diseases
- p.Pro113= Multiple submitters Inborn genetic diseases
- p.Pro370= Multiple submitters Inborn genetic diseases
- p.Ser468= Multiple submitters
- p.Val342= Multiple submitters Inborn genetic diseases
- c.1000+100A>G Single submitter
- c.1000+15C>T Single submitter
- c.1000+16T>G Single submitter
- c.1000+20G>C Single submitter
- c.1000+210T>A Single submitter
- c.1000+264A>G Single submitter
- c.1001-5C>A Single submitter
- c.1001-5C>T Single submitter
- c.320+13G>T Single submitter
- c.320+16A>T Single submitter
- c.320+18G>T Single submitter
- c.321-17G>A Single submitter
- c.321-234C>T Single submitter
- c.427+10C>T Single submitter
- c.427+17T>G Single submitter
- c.427+230T>G Single submitter
- c.427+6A>G Single submitter
- c.428-166A>C Single submitter
- c.428-19T>C Single submitter
- c.428-4G>A Single submitter
- c.428-6T>C Single submitter
- c.428-7G>A Single submitter
- c.458+158G>A Single submitter
- c.458+18C>T Single submitter
- c.458+9C>T Single submitter
- c.459-16C>A Single submitter
- c.459-21973A>G Single submitter
- c.459-24825G>A Single submitter
- c.459-24839T>G Single submitter
- c.459-25005G>C Single submitter
- c.459-25563G>A Single submitter
- c.459-4T>G Single submitter
- c.459-6C>G Single submitter
- c.459-8C>T Single submitter
- c.586-195T>A Single submitter
- c.586-4C>A Single submitter
- c.586-8A>C Single submitter
- c.586-8A>G Single submitter
- c.670+12A>G Single submitter
- c.670+20T>C Single submitter
- c.671-12T>G Single submitter
- c.671-20T>C Single submitter
- c.808+10G>A Single submitter
- c.808+11T>G Single submitter
- c.808+13T>G Single submitter
- c.808+158T>C Single submitter
- c.808+16A>G Single submitter
- c.809-13T>G Single submitter
- c.809-236C>G Single submitter
- c.809-8C>T Single submitter
- c.873+10G>C Single submitter
- c.873+11T>C Single submitter
- c.874-11T>C Single submitter
- c.874-15T>C Single submitter
- c.874-4A>G Single submitter
- c.*1026T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2B
- c.*1170A>G Single submitter neuropathy, hereditary sensory and autonomic, type 2B
- c.*70_*71dup Single submitter
- c.*71del Single submitter
- p.Ala110= Single submitter
- p.Ala440= Single submitter
- p.Ala478= Single submitter
- p.Ala5= Single submitter
- p.Ala83= Single submitter
- p.Arg115= Single submitter
- p.Arg385= Single submitter
- p.Arg82= Single submitter
- p.Asn262= Single submitter
- p.Asn483= Single submitter
- p.Asp237= Single submitter
- p.Asp280= Single submitter
- p.Asp305= Single submitter
- p.Asp307= Single submitter
- p.Asp315= Single submitter
- p.Asp336= Single submitter
- p.Asp381= Single submitter
- p.Asp453= Single submitter
- p.Asp464= Single submitter
- p.Gln190= Single submitter
- p.Gln391= Single submitter
- p.Gly471= Single submitter
- p.His407= Single submitter neuropathy, hereditary sensory and autonomic, type 2B
- p.Ile218= Single submitter
- p.Leu167= Single submitter
- p.Leu251= Single submitter
- p.Leu294= Single submitter
- p.Leu380= Single submitter
- p.Leu457= Single submitter
- p.Leu470= Single submitter
- p.Leu79= Single submitter
- p.Leu86= Single submitter
- p.Leu93= Single submitter
- p.Leu96= Single submitter
- p.Leu97= Single submitter
- p.Lys264= Single submitter
- p.Phe350= Single submitter
- p.Phe406= Single submitter
- p.Phe489= Single submitter
- p.Pro193= Single submitter
- p.Pro75= Single submitter
- p.Pro92= Single submitter
- p.Ser121= Single submitter
- p.Ser174= Single submitter
- p.Ser186= Single submitter
- p.Ser202= Single submitter
- p.Thr205= Single submitter
- p.Thr208= Single submitter
- p.Thr295= Single submitter
- p.Thr359= Single submitter
- p.Thr390= Single submitter
- p.Thr405= Single submitter
- p.Tyr117= Single submitter
- p.Tyr325= Single submitter
- p.Val100= Single submitter
- p.Val116= Single submitter
- p.Val122= Single submitter
- p.Val249= Single submitter
- p.Val308= Single submitter
Uncertain significance 215
- c.808+6T>C Multiple submitters neuropathy, hereditary sensory and autonomic, type 2B
- c.*1035T>C Multiple submitters neuropathy, hereditary sensory and autonomic, type 2B
- p.Arg148Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg266Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg266His Multiple submitters Inborn genetic diseases ⚠
- p.Arg268Thr Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
- p.Arg385Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg94Gly Multiple submitters Inborn genetic diseases ⚠
- p.Asn316Ser Multiple submitters ⚠
- p.Asp333Glu Multiple submitters Inborn genetic diseases ⚠
- p.Asp363Glu Multiple submitters Inborn genetic diseases ⚠
- p.Asp403Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp84Asn Multiple submitters Inborn genetic diseases ⚠
- p.Cys170Ser Multiple submitters neuropathy, hereditary sensory and autonomic, type 2A ⚠
- p.Cys235Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gln145Pro Multiple submitters Inborn genetic diseases ⚠
- p.Glu155Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu259Gln Multiple submitters ⚠
- p.Glu270Ala Multiple submitters Inborn genetic diseases ⚠
- p.Glu389Gly Multiple submitters Inborn genetic diseases ⚠
- p.Glu451Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu8Lys Multiple submitters neuropathy, hereditary sensory and autonomic, type 2B ⚠
- p.Gly211Arg Multiple submitters neuropathy, hereditary sensory and autonomic, type 2B ⚠
- p.Gly358Val Multiple submitters ⚠
- p.His497Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ile132Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile417Phe Multiple submitters Inborn genetic diseases ⚠
- p.Leu119Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu187Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu199Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu224Phe Multiple submitters Inborn genetic diseases ⚠
- p.Leu229Phe Multiple submitters Inborn genetic diseases ⚠
- p.Leu97Val Multiple submitters Inborn genetic diseases ⚠
- p.Lys485del Multiple submitters Inborn genetic diseases
- p.Met185Ile Multiple submitters Inborn genetic diseases ⚠
- p.Phe228dup Multiple submitters Inborn genetic diseases
- p.Pro441Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ser153Gly Multiple submitters ⚠
- p.Ser281Gly Multiple submitters neuropathy, hereditary sensory and autonomic, type 2B ⚠
- p.Ser344Pro Multiple submitters Inborn genetic diseases ⚠
- p.Ser410Cys Multiple submitters Inborn genetic diseases ⚠
- p.Ser95Arg Multiple submitters Inborn genetic diseases ⚠
- p.Thr318Ile Multiple submitters Inborn genetic diseases
- p.Thr390Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr405Asn Multiple submitters Inborn genetic diseases ⚠
- p.Thr473Arg Multiple submitters Inborn genetic diseases ⚠
- p.Trp107Cys Multiple submitters neuropathy, hereditary sensory and autonomic, type 2B ⚠
- p.Trp114Arg Multiple submitters ⚠
- p.Trp78Arg Multiple submitters Inborn genetic diseases ⚠
- p.Tyr213Cys Multiple submitters Inborn genetic diseases ⚠
- p.Val308Ile Multiple submitters Inborn genetic diseases ⚠
- c.1000+4T>C Single submitter
- c.1000+5G>C Single submitter
- c.458+3A>G Single submitter Inborn genetic diseases
- c.459-25088G>A Single submitter neuropathy, hereditary sensory and autonomic, type 2B
- c.670+8T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2B
- c.808+4G>C Single submitter
- c.874-3C>T Single submitter
- c.*1160T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2B
- c.*1169G>A Single submitter neuropathy, hereditary sensory and autonomic, type 2B
- c.*1235T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2B
- c.*123T>G Single submitter neuropathy, hereditary sensory and autonomic, type 2B
- c.*1337A>C Single submitter neuropathy, hereditary sensory and autonomic, type 2B
- c.*1641A>G Single submitter neuropathy, hereditary sensory and autonomic, type 2B
- c.*1653G>A Single submitter neuropathy, hereditary sensory and autonomic, type 2B
- c.*219A>G Single submitter neuropathy, hereditary sensory and autonomic, type 2B
- c.*498G>A Single submitter neuropathy, hereditary sensory and autonomic, type 2B
- c.*510A>T Single submitter neuropathy, hereditary sensory and autonomic, type 2B
- c.*581T>C Single submitter neuropathy, hereditary sensory and autonomic, type 2B
- c.*757G>A Single submitter neuropathy, hereditary sensory and autonomic, type 2B
- c.*853G>A Single submitter neuropathy, hereditary sensory and autonomic, type 2B
- c.*913G>T Single submitter neuropathy, hereditary sensory and autonomic, type 2B
- p.Ala19Ser Single submitter neuropathy, hereditary sensory and autonomic, type 2B ⚠
- p.Ala2= Single submitter neuropathy, hereditary sensory and autonomic, type 2B
- p.Ala287Thr Single submitter ⚠
- p.Ala413Thr Single submitter Inborn genetic diseases ⚠
- p.Ala419Pro Single submitter ⚠
- p.Ala435Thr Single submitter ⚠
- p.Ala435Val Single submitter Inborn genetic diseases ⚠
- p.Ala439Thr Single submitter Inborn genetic diseases ⚠
- p.Ala478Val Single submitter ⚠
- p.Arg127Gly Single submitter ⚠
- p.Arg148Gly Single submitter neuropathy, hereditary sensory and autonomic, type 2B ⚠
- p.Arg266Pro Single submitter ⚠
- p.Arg268Ser Single submitter ⚠
- p.Arg337Gln Single submitter ⚠
- p.Arg337Ter Single submitter
- p.Arg82Ser Single submitter ⚠
- p.Asn103Ser Single submitter ⚠
- p.Asn320Thr Single submitter
- p.Asn355Tyr Single submitter ⚠
- p.Asn411Ser Single submitter Inborn genetic diseases ⚠
- p.Asn483Ser Single submitter ⚠
- p.Asp135Asn Single submitter ⚠
- p.Asp135His Single submitter ⚠
- p.Asp162Glu Single submitter ⚠
- p.Asp237del Single submitter
- p.Asp279Glu Single submitter Inborn genetic diseases ⚠
- p.Asp284Tyr Single submitter ⚠
- p.Asp349Gly Single submitter ⚠
- p.Asp446Val Single submitter Inborn genetic diseases ⚠
- p.Asp464Glu Single submitter Inborn genetic diseases ⚠
- p.Cys235Arg Single submitter Inborn genetic diseases ⚠
- p.Gln263Pro Single submitter Inborn genetic diseases ⚠
- p.Gln328Leu Single submitter ⚠
- p.Gln379His Single submitter ⚠
- p.Gln391Arg Single submitter Inborn genetic diseases ⚠
- p.Gln391Ter Single submitter
- p.Gln404Pro Single submitter ⚠
- p.Gln434Glu Single submitter neuropathy, hereditary sensory and autonomic, type 2B ⚠
- p.Gln438fs Single submitter
- p.Gln460Glu Single submitter ⚠
- p.Gln460His Single submitter Inborn genetic diseases ⚠
- p.Gln474Ter Single submitter
- p.Gln476Glu Single submitter ⚠
- p.Gln481His Single submitter ⚠
- p.Glu163Asp Single submitter Inborn genetic diseases ⚠
- p.Glu184Ala Single submitter Inborn genetic diseases ⚠
- p.Glu274Gly Single submitter ⚠
- p.Glu323Val Single submitter ⚠
- p.Glu364Val Single submitter ⚠
- p.Glu389Ala Single submitter Inborn genetic diseases ⚠
- p.Glu430Asp Single submitter ⚠
- p.Glu445Asp Single submitter Inborn genetic diseases ⚠
- p.Glu456fs Single submitter
- p.Glu467Gly Single submitter ⚠
- p.Gly126Glu Single submitter ⚠
- p.Gly143Asp Single submitter ⚠
- p.Gly256Glu Single submitter ⚠
- p.Gly358Arg Single submitter ⚠
- p.Gly395Val Single submitter Inborn genetic diseases ⚠
- p.Gly54Arg Single submitter neuropathy, hereditary sensory and autonomic, type 2B ⚠
- p.Gly98_Leu105del Single submitter hereditary spastic paraplegia
- p.His169Tyr Single submitter ⚠
- p.His384Gln Single submitter ⚠
- p.His407Tyr Single submitter ⚠
- p.Ile157Val Single submitter Inborn genetic diseases ⚠
- p.Ile180Val Single submitter ⚠
- p.Ile238Thr Single submitter Inborn genetic diseases ⚠
- p.Ile242Thr Single submitter ⚠
- p.Ile246Met Single submitter ⚠
- p.Ile466Thr Single submitter Inborn genetic diseases ⚠
- p.Leu111Val Single submitter Inborn genetic diseases ⚠
- p.Leu125Ile Single submitter ⚠
- p.Leu210Phe Single submitter Inborn genetic diseases ⚠
- p.Leu223Pro Single submitter ⚠
- p.Leu288Pro Single submitter ⚠
- p.Leu294Pro Single submitter ⚠
- p.Leu369Phe Single submitter Inborn genetic diseases ⚠
- p.Leu369Ser Single submitter Inborn genetic diseases ⚠
- p.Leu396Pro Single submitter ⚠
- p.Leu472Pro Single submitter ⚠
- p.Leu77Pro Single submitter ⚠
- p.Leu97His Single submitter ⚠
- p.Lys245Arg Single submitter ⚠
- p.Lys247Asn Single submitter ⚠
- p.Lys278Glu Single submitter ⚠
- p.Lys291Glu Single submitter ⚠
- p.Met123Thr Single submitter Inborn genetic diseases ⚠
- p.Met130Thr Single submitter Inborn genetic diseases ⚠
- p.Met409Arg Single submitter ⚠
- p.Met409Thr Single submitter ⚠
- p.Phe206Ile Single submitter ⚠
- p.Phe99Leu Single submitter neuropathy, hereditary sensory and autonomic, type 2B ⚠
- p.Pro113Gln Single submitter ⚠
- p.Pro165Leu Single submitter ⚠
- p.Pro231Ala Single submitter ⚠
- p.Pro231Ser Single submitter ⚠
- p.Pro290_Lys291insCysPro Single submitter Inborn genetic diseases
- p.Pro34Leu Single submitter Inborn genetic diseases ⚠
- p.Pro351Ser Single submitter ⚠
- p.Pro386Ser Single submitter ⚠
- p.Pro386Thr Single submitter ⚠
- p.Pro75Arg Single submitter ⚠
- p.Ser168Gly Single submitter ⚠
- p.Ser179Gly Single submitter ⚠
- p.Ser192Arg Single submitter Inborn genetic diseases ⚠
- p.Ser202Arg Single submitter ⚠
- p.Ser248Leu Single submitter ⚠
- p.Ser269Cys Single submitter ⚠
- p.Ser269Thr Single submitter ⚠
- p.Ser281_Asp284del Single submitter
- p.Ser293Arg Single submitter ⚠
- p.Ser302Phe Single submitter ⚠
- p.Ser302Pro Single submitter ⚠
- p.Ser322Pro Single submitter ⚠
- p.Ser352Ala Single submitter Inborn genetic diseases ⚠
- p.Ser410Asn Single submitter ⚠
- p.Ser88Arg Single submitter ⚠
- p.Ser88Asn Single submitter ⚠
- p.Thr205Ile Single submitter
- p.Thr208Met Single submitter ⚠
- p.Thr295Met Single submitter Inborn genetic diseases ⚠
- p.Thr318Asn Single submitter neuropathy, hereditary sensory and autonomic, type 2B
- p.Thr318Ser Single submitter Inborn genetic diseases
- p.Thr326Ser Single submitter ⚠
- p.Thr331Ile Single submitter ⚠
- p.Thr331Pro Single submitter ⚠
- p.Thr359Lys Single submitter Inborn genetic diseases ⚠
- p.Thr447Ile Single submitter ⚠
- p.Thr449Ser Single submitter ⚠
- p.Thr473Ile Single submitter ⚠
- p.Trp147Arg Single submitter Inborn genetic diseases ⚠
- p.Trp147Cys Single submitter ⚠
- p.Tyr243His Single submitter ⚠
- p.Tyr325Asp Single submitter ⚠
- p.Val116Ile Single submitter ⚠
- p.Val122Ile Single submitter ⚠
- p.Val156Phe Single submitter ⚠
- p.Val217Leu Single submitter ⚠
- p.Val249Ile Single submitter ⚠
- p.Val303Gly Single submitter Inborn genetic diseases ⚠
- p.Val303Met Single submitter ⚠
- p.Val308Asp Single submitter ⚠
- p.Val421Ala Single submitter ⚠