ATL3 — 524 ClinVar variants

All ClinVar germline ATL3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 245 flagged for review →

2 Pathogenic · 1 Likely pathogenic · 22 Conflicting · 32 Benign · 9 Benign/Likely benign · 180 Likely benign · 278 Uncertain significance

Full ATL3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 245

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 13

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

ATL3 p.Arg194His Conflicting Single submitter
Inborn genetic diseases
ATL3 p.Asn312Ser Conflicting Single submitter
Inborn genetic diseases
ATL3 p.Asn94Asp Conflicting Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Gln5Arg Conflicting Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Glu89Asp Conflicting Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Gly501Arg Conflicting Single submitter
Inborn genetic diseases
ATL3 p.Ile464Val Conflicting Single submitter
Inborn genetic diseases
ATL3 p.Leu46Phe Conflicting Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Leu484Pro Conflicting Single submitter
Inborn genetic diseases
ATL3 p.Pro4Ser Conflicting Single submitter
Inborn genetic diseases
ATL3 p.Thr261Asn Conflicting Single submitter
Inborn genetic diseases
ATL3 p.Thr461Ile Conflicting Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Val370Phe Conflicting Single submitter
neuropathy, hereditary sensory, type 1F

Predictors lean, ClinVar uncertain 148

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

ATL3 p.Ala457Val Uncertain significance Multiple submitters
neuropathy, hereditary sensory, type 1F
ATL3 p.Ala508Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ATL3 p.Ala540Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ATL3 p.Ala8Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ATL3 p.Arg194Cys Uncertain significance Multiple submitters
neuropathy, hereditary sensory, type 1F
ATL3 p.Arg194Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ATL3 p.Arg213Gly Uncertain significance Multiple submitters
Inborn genetic diseases
ATL3 p.Arg250Gln Uncertain significance Multiple submitters
neuropathy, hereditary sensory, type 1F
ATL3 p.Asn474Lys Uncertain significance Multiple submitters
neuropathy, hereditary sensory, type 1F
ATL3 p.Asp148Glu Uncertain significance Multiple submitters
neuropathy, hereditary sensory, type 1F
ATL3 p.Asp16His Uncertain significance Multiple submitters
neuropathy, hereditary sensory, type 1F
ATL3 p.Asp259Asn Uncertain significance Multiple submitters
Inborn genetic diseases
ATL3 p.Cys388Tyr Uncertain significance Multiple submitters
neuropathy, hereditary sensory, type 1F
ATL3 p.Gln28Pro Uncertain significance Multiple submitters
Inborn genetic diseases
ATL3 p.Gln345Leu Uncertain significance Multiple submitters
neuropathy, hereditary sensory, type 1F
ATL3 p.Glu199Asp Uncertain significance Multiple submitters
neuropathy, hereditary sensory, type 1F
ATL3 p.Glu323Ala Uncertain significance Multiple submitters
Inborn genetic diseases
ATL3 p.Glu335Lys Uncertain significance Multiple submitters
neuropathy, hereditary sensory, type 1F
ATL3 p.Glu349Lys Uncertain significance Multiple submitters
Inborn genetic diseases
ATL3 p.Glu385Lys Uncertain significance Multiple submitters
neuropathy, hereditary sensory, type 1F
ATL3 p.Gly450Ser Uncertain significance Multiple submitters
neuropathy, hereditary sensory, type 1F
ATL3 p.Ile285Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ATL3 p.Ile76Val Uncertain significance Multiple submitters
Inborn genetic diseases
ATL3 p.Leu162Val Uncertain significance Multiple submitters
Inborn genetic diseases
ATL3 p.Lys135Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ATL3 p.Lys154Glu Uncertain significance Multiple submitters
neuropathy, hereditary sensory, type 1F
ATL3 p.Met165Val Uncertain significance Multiple submitters
neuropathy, hereditary sensory, type 1F
ATL3 p.Met229Val Uncertain significance Multiple submitters
Inborn genetic diseases
ATL3 p.Phe411Leu Uncertain significance Multiple submitters
neuropathy, hereditary sensory, type 1F
ATL3 p.Pro266Ala Uncertain significance Multiple submitters
neuropathy, hereditary sensory, type 1F
ATL3 p.Thr449Met Uncertain significance Multiple submitters
neuropathy, hereditary sensory, type 1F
ATL3 p.Thr522Ile Uncertain significance Multiple submitters
neuropathy, hereditary sensory, type 1F
ATL3 p.Tyr223Cys Uncertain significance Multiple submitters
neuropathy, hereditary sensory, type 1F
ATL3 p.Tyr299Phe Uncertain significance Multiple submitters
Inborn genetic diseases
ATL3 p.Tyr509Ser Uncertain significance Multiple submitters
neuropathy, hereditary sensory, type 1F
ATL3 p.Val300Ile Uncertain significance Multiple submitters
Inborn genetic diseases
ATL3 p.Ala146Val Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Ala161Ser Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Ala286Ser Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Ala346Val Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Ala394Thr Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Ala508Pro Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Arg213Thr Uncertain significance Single submitter
Inborn genetic diseases
ATL3 p.Arg235Cys Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Arg319Gln Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Arg442Gln Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Arg497Leu Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Arg527Lys Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Arg533Lys Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Arg56Gln Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Arg56Pro Uncertain significance Single submitter
ATL3 p.Asn352Asp Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Asn352Lys Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Asn366Ser Uncertain significance Single submitter
Inborn genetic diseases
ATL3 p.Asn432Asp Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Asn432Ser Uncertain significance Single submitter
ATL3 p.Asn94Ser Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Asp16Gly Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Asp17Gly Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Asp181Asn Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Asp182Gly Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Asp198Gly Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Asp214Glu Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Asp361Glu Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Asp78Gly Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Cys256Trp Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Cys256Tyr Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Cys262Phe Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Cys318Tyr Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Cys429Tyr Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Cys475Tyr Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Gln185Leu Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Gln33Arg Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Glu180Lys Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Glu323Lys Uncertain significance Single submitter
Inborn genetic diseases
ATL3 p.Gly110Val Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Gly193Ser Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Gly228Arg Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Gly269Ala Uncertain significance Single submitter
ATL3 p.Gly372Arg Uncertain significance Single submitter
Inborn genetic diseases
ATL3 p.Gly372Glu Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Gly372Trp Uncertain significance Single submitter
Inborn genetic diseases
ATL3 p.Gly405Val Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Gly494Arg Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Gly519Asp Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Gly519Ser Uncertain significance Single submitter
Inborn genetic diseases
ATL3 p.His387Gln Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.His397Arg Uncertain significance Single submitter
Inborn genetic diseases
ATL3 p.His397Asn Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.His517Arg Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Ile178Thr Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Ile253Thr Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Ile382Leu Uncertain significance Single submitter
Inborn genetic diseases
ATL3 p.Ile382Phe Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Leu183Arg Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Leu186Arg Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Leu186Pro Uncertain significance Single submitter
Inborn genetic diseases
ATL3 p.Leu188Phe Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Leu208Val Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Leu296Arg Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Leu31Ser Uncertain significance Single submitter
Inborn genetic diseases
ATL3 p.Leu321Ile Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Leu395Met Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Leu460Val Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Leu466Phe Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Leu479Gln Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Lys130Arg Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Lys135Arg Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Lys203Asn Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Lys315Asn Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Lys360Arg Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Lys435Asn Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Lys88Arg Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Met197Val Uncertain significance Single submitter
ATL3 p.Met229Ile Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Met476Arg Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Met476Val Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Met536Thr Uncertain significance Single submitter
Inborn genetic diseases
ATL3 p.Phe438Ile Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Pro204Leu Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Pro266Thr Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Pro268Gln Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Pro376Arg Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Pro4Leu Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Ser168Phe Uncertain significance Single submitter
Inborn genetic diseases
ATL3 p.Ser175Phe Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Ser216Asn Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Ser515Ala Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Ser74Thr Uncertain significance Single submitter
Inborn genetic diseases
ATL3 p.Ser93Thr Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Thr164Ala Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Thr164Ile Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Thr449Ala Uncertain significance Single submitter
Inborn genetic diseases
ATL3 p.Thr525Ala Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Trp122Cys Uncertain significance Single submitter
Inborn genetic diseases
ATL3 p.Trp487Arg Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Trp95Gly Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Trp95Ser Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Tyr172His Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Tyr219Cys Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Tyr324Cys Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Val138Gly Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Val212Asp Uncertain significance Single submitter
Inborn genetic diseases
ATL3 p.Val212Phe Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Val249Ile Uncertain significance Single submitter
Inborn genetic diseases
ATL3 p.Val260Ile Uncertain significance Single submitter
Inborn genetic diseases
ATL3 p.Val7Ala Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Val7Leu Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F

Predictors split 84

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

ATL3 p.Arg497Cys Uncertain significance Multiple submitters
Inborn genetic diseases
ATL3 p.Asp198Val Likely benign Multiple submitters
Inborn genetic diseases
ATL3 p.Asp537Asn Likely benign Multiple submitters
Inborn genetic diseases
ATL3 p.Cys156Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ATL3 p.Gln52Arg Uncertain significance Multiple submitters
Inborn genetic diseases
ATL3 p.Leu58Phe Uncertain significance Multiple submitters
neuropathy, hereditary sensory, type 1F
ATL3 p.Pro102Leu Uncertain significance Multiple submitters
neuropathy, hereditary sensory, type 1F
ATL3 p.Pro26Ala Uncertain significance Multiple submitters
neuropathy, hereditary sensory, type 1F
ATL3 p.Pro298Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ATL3 p.Ser21Asn Uncertain significance Multiple submitters
neuropathy, hereditary sensory, type 1F
ATL3 p.Ser304Phe Uncertain significance Multiple submitters
Inborn genetic diseases
ATL3 p.Ser314Pro Uncertain significance Multiple submitters
neuropathy, hereditary sensory, type 1F
ATL3 p.Tyr221Asp Uncertain significance Multiple submitters
neuropathy, hereditary sensory, type 1F
ATL3 p.Val125Ile Benign/Likely benign Multiple submitters
Inborn genetic diseases
ATL3 p.Val238Met Uncertain significance Multiple submitters
neuropathy, hereditary sensory, type 1F
ATL3 p.Ala10Val Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Ala15Val Uncertain significance Single submitter
Inborn genetic diseases
ATL3 p.Ala357Ser Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Ala394Gly Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Ala502Ser Uncertain significance Single submitter
Inborn genetic diseases
ATL3 p.Ala508Val Uncertain significance Single submitter
Inborn genetic diseases
ATL3 p.Arg412His Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Arg497His Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Asn351Ser Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Asp408Asn Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Asp528Val Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Asp57Asn Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Cys429Trp Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Gln237Arg Conflicting Single submitter
Inborn genetic diseases
ATL3 p.Gln471His Conflicting Single submitter
Inborn genetic diseases
ATL3 p.Gln52Pro Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Gln87Arg Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Glu101Asp Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Glu101Lys Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Glu310Lys Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Glu389Lys Conflicting Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Gly25Asp Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Gly320Ala Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Gly488Val Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.His431Pro Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.His517Pro Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.His54Asn Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Ile119Val Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Ile285Val Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Ile362Val Likely benign Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Ile464Met Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Ile503Val Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Ile55Met Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Leu344Phe Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Leu395Pro Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Leu460Phe Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Lys315Glu Uncertain significance Single submitter
Inborn genetic diseases
ATL3 p.Lys341Arg Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Lys375Thr Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Lys71Arg Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Met197Thr Uncertain significance Single submitter
Inborn genetic diseases
ATL3 p.Phe390Leu Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Phe463Leu Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Phe473Leu Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Pro114Thr Uncertain significance Single submitter
Inborn genetic diseases
ATL3 p.Pro24Ser Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Pro380Ser Conflicting Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Pro380Thr Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Ser149Gly Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Ser255Leu Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Ser275Gly Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Ser3Cys Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Ser3Phe Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Thr117Ala Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Thr449Lys Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Thr461Ser Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Thr486Ile Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Tyr221Cys Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Tyr455Phe Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Tyr492Phe Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Tyr509Cys Uncertain significance Single submitter
ATL3 p.Tyr83His Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Tyr85Asn Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Tyr85His Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Val153Met Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Val169Leu Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Val238Ala Uncertain significance Single submitter
neuropathy, hereditary sensory, type 1F
ATL3 p.Val531Phe Uncertain significance Single submitter
ATL3 p.Arg319Trp Likely benign No assertion criteria
long QT syndrome

All ATL3 variants

Pathogenic 2

p.Pro338Arg No assertion criteria neuropathy, hereditary sensory, type 1F
p.Tyr192Cys No assertion criteria neuropathy, hereditary sensory, type 1F

Likely pathogenic 1

p.Ala355_Ala356insGluAlaAsnAsnLeuAlaAla Single submitter neuropathy, hereditary sensory, type 1F

Conflicting classifications of pathogenicity 22

p.Arg194His Single submitter Inborn genetic diseases ⚠
p.Arg442Ter Single submitter neuropathy, hereditary sensory, type 1F
p.Arg6Ter Single submitter neuropathy, hereditary sensory, type 1F
p.Asn312Ser Single submitter Inborn genetic diseases ⚠
p.Asn94Asp Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Gln237Arg Single submitter Inborn genetic diseases ⚠
p.Gln471His Single submitter Inborn genetic diseases ⚠
p.Gln513= Single submitter neuropathy, hereditary sensory, type 1F
p.Gln5Arg Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Glu389Lys Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Glu89Asp Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Gly500= Single submitter neuropathy, hereditary sensory, type 1F
p.Gly501Arg Single submitter Inborn genetic diseases ⚠
p.Ile464Val Single submitter Inborn genetic diseases ⚠
p.Leu46Phe Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Leu484Pro Single submitter Inborn genetic diseases ⚠
p.Pro380Ser Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Pro4Ser Single submitter Inborn genetic diseases ⚠
p.Ser258= Single submitter neuropathy, hereditary sensory, type 1F
p.Thr261Asn Single submitter Inborn genetic diseases ⚠
p.Thr461Ile Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Val370Phe Single submitter neuropathy, hereditary sensory, type 1F ⚠

Benign 32

c.1107+5G>A Multiple submitters neuropathy, hereditary sensory, type 1F
c.1539+14_1539+16del Multiple submitters neuropathy, hereditary sensory, type 1F
c.510+63G>A Multiple submitters neuropathy, hereditary sensory, type 1F
c.618+13_618+16del Multiple submitters neuropathy, hereditary sensory, type 1F
c.712-18C>G Multiple submitters neuropathy, hereditary sensory, type 1F
c.-29G>A Multiple submitters
c.-303C>T Multiple submitters
c.-9+136C>T Multiple submitters
p.Ala11Ser Multiple submitters neuropathy, hereditary sensory, type 1F
p.Arg533= Multiple submitters neuropathy, hereditary sensory, type 1F
c.1035+10G>A Single submitter neuropathy, hereditary sensory, type 1F
c.1035+128dup Single submitter
c.1036-13dup Single submitter neuropathy, hereditary sensory, type 1F
c.1107+186TTTTG[5] Single submitter
c.1108-207T>C Single submitter
c.1108-232G>A Single submitter
c.1539+239del Single submitter
c.1540-17T>C Single submitter neuropathy, hereditary sensory, type 1F
c.406-3dup Single submitter neuropathy, hereditary sensory, type 1F
c.46+255T>C Single submitter
c.47-17dup Single submitter neuropathy, hereditary sensory, type 1F
c.618+198G>A Single submitter
c.619-108_619-107insT Single submitter
c.619-110_619-109insAGTACG Single submitter
c.619-122del Single submitter
c.619-143dup Single submitter
c.619-18C>T Single submitter neuropathy, hereditary sensory, type 1F
c.978+9G>A Single submitter neuropathy, hereditary sensory, type 1F
c.979-14G>A Single submitter neuropathy, hereditary sensory, type 1F
p.Ala457= Single submitter neuropathy, hereditary sensory, type 1F
p.Leu301= Single submitter neuropathy, hereditary sensory, type 1F
p.Tyr192= Single submitter neuropathy, hereditary sensory, type 1F

Benign/Likely benign 9

c.511-11T>C Multiple submitters neuropathy, hereditary sensory, type 1F
c.712-8A>G Multiple submitters neuropathy, hereditary sensory, type 1F
c.978+7dup Multiple submitters neuropathy, hereditary sensory, type 1F
p.Asp214= Multiple submitters neuropathy, hereditary sensory, type 1F
p.Gly478= Multiple submitters Inborn genetic diseases
p.Leu140= Multiple submitters neuropathy, hereditary sensory, type 1F
p.Ser458= Multiple submitters neuropathy, hereditary sensory, type 1F
p.Thr443= Multiple submitters Inborn genetic diseases
p.Val125Ile Multiple submitters Inborn genetic diseases ⚠

Likely benign 180

c.1035+14T>G Multiple submitters neuropathy, hereditary sensory, type 1F
c.47-4A>T Multiple submitters neuropathy, hereditary sensory, type 1F
c.47-6A>T Multiple submitters Inborn genetic diseases
p.Ala507= Multiple submitters Inborn genetic diseases
p.Asp198Val Multiple submitters Inborn genetic diseases ⚠
p.Asp537Asn Multiple submitters Inborn genetic diseases ⚠
p.Gly280= Multiple submitters neuropathy, hereditary sensory, type 1F
p.Ile518Val Multiple submitters Inborn genetic diseases
p.Leu480= Multiple submitters neuropathy, hereditary sensory, type 1F
p.Leu484= Multiple submitters neuropathy, hereditary sensory, type 1F
p.Val60= Multiple submitters neuropathy, hereditary sensory, type 1F
c.1036-10C>G Single submitter neuropathy, hereditary sensory, type 1F
c.1036-12CT[2] Single submitter neuropathy, hereditary sensory, type 1F
c.1036-18G>A Single submitter neuropathy, hereditary sensory, type 1F
c.1036-19C>T Single submitter neuropathy, hereditary sensory, type 1F
c.1036-6T>C Single submitter neuropathy, hereditary sensory, type 1F
c.1107+12A>G Single submitter neuropathy, hereditary sensory, type 1F
c.1107+14dup Single submitter neuropathy, hereditary sensory, type 1F
c.1107+15C>T Single submitter neuropathy, hereditary sensory, type 1F
c.1107+16G>A Single submitter neuropathy, hereditary sensory, type 1F
c.1107+7G>T Single submitter neuropathy, hereditary sensory, type 1F
c.1108-15C>A Single submitter neuropathy, hereditary sensory, type 1F
c.1108-15C>T Single submitter neuropathy, hereditary sensory, type 1F
c.1108-8_1108-4del Single submitter neuropathy, hereditary sensory, type 1F
c.1108-8C>G Single submitter neuropathy, hereditary sensory, type 1F
c.1539+10G>A Single submitter neuropathy, hereditary sensory, type 1F
c.1539+13G>A Single submitter neuropathy, hereditary sensory, type 1F
c.1539+238_1539+239dup Single submitter
c.1539+239dup Single submitter
c.1540-12G>T Single submitter neuropathy, hereditary sensory, type 1F
c.1540-18A>G Single submitter neuropathy, hereditary sensory, type 1F
c.261+11A>G Single submitter neuropathy, hereditary sensory, type 1F
c.261+15T>G Single submitter neuropathy, hereditary sensory, type 1F
c.261+9G>A Single submitter neuropathy, hereditary sensory, type 1F
c.261+9G>T Single submitter neuropathy, hereditary sensory, type 1F
c.262-10A>T Single submitter neuropathy, hereditary sensory, type 1F
c.405+10A>C Single submitter neuropathy, hereditary sensory, type 1F
c.405+13A>G Single submitter neuropathy, hereditary sensory, type 1F
c.405+20T>C Single submitter neuropathy, hereditary sensory, type 1F
c.406-10T>C Single submitter neuropathy, hereditary sensory, type 1F
c.406-150del Single submitter
c.406-17A>C Single submitter neuropathy, hereditary sensory, type 1F
c.406-17A>G Single submitter neuropathy, hereditary sensory, type 1F
c.406-5T>C Single submitter neuropathy, hereditary sensory, type 1F
c.406-6T>C Single submitter neuropathy, hereditary sensory, type 1F
c.406-7T>C Single submitter neuropathy, hereditary sensory, type 1F
c.46+166dup Single submitter
c.46+18C>T Single submitter neuropathy, hereditary sensory, type 1F
c.46+19C>G Single submitter neuropathy, hereditary sensory, type 1F
c.46+20del Single submitter neuropathy, hereditary sensory, type 1F
c.46+212_46+215del Single submitter
c.46+8G>A Single submitter neuropathy, hereditary sensory, type 1F
c.46+9C>T Single submitter neuropathy, hereditary sensory, type 1F
c.47-10A>G Single submitter neuropathy, hereditary sensory, type 1F
c.47-10A>T Single submitter neuropathy, hereditary sensory, type 1F
c.47-12G>T Single submitter neuropathy, hereditary sensory, type 1F
c.47-16dup Single submitter neuropathy, hereditary sensory, type 1F
c.47-29A>T Single submitter
c.510+18C>T Single submitter neuropathy, hereditary sensory, type 1F
c.510+9C>T Single submitter neuropathy, hereditary sensory, type 1F
c.511-15A>G Single submitter neuropathy, hereditary sensory, type 1F
c.511-17G>A Single submitter neuropathy, hereditary sensory, type 1F
c.511-6T>C Single submitter neuropathy, hereditary sensory, type 1F
c.561+158G>A Single submitter
c.561+9T>G Single submitter neuropathy, hereditary sensory, type 1F
c.562-117C>A Single submitter
c.562-11C>G Single submitter neuropathy, hereditary sensory, type 1F
c.562-11C>T Single submitter neuropathy, hereditary sensory, type 1F
c.562-12T>G Single submitter neuropathy, hereditary sensory, type 1F
c.562-13T>C Single submitter neuropathy, hereditary sensory, type 1F
c.562-6T>C Single submitter neuropathy, hereditary sensory, type 1F
c.619-10T>C Single submitter neuropathy, hereditary sensory, type 1F
c.619-165C>T Single submitter
c.619-4dup Single submitter neuropathy, hereditary sensory, type 1F
c.619-7T>C Single submitter neuropathy, hereditary sensory, type 1F
c.712-110A>G Single submitter
c.712-15G>C Single submitter neuropathy, hereditary sensory, type 1F
c.850+18T>C Single submitter neuropathy, hereditary sensory, type 1F
c.850+8C>A Single submitter neuropathy, hereditary sensory, type 1F
c.850+8C>T Single submitter neuropathy, hereditary sensory, type 1F
c.850+9C>T Single submitter neuropathy, hereditary sensory, type 1F
c.850+9dup Single submitter neuropathy, hereditary sensory, type 1F
c.851-10C>T Single submitter neuropathy, hereditary sensory, type 1F
c.851-13G>A Single submitter neuropathy, hereditary sensory, type 1F
c.851-13G>T Single submitter neuropathy, hereditary sensory, type 1F
c.851-17T>C Single submitter neuropathy, hereditary sensory, type 1F
c.851-20_851-17del Single submitter neuropathy, hereditary sensory, type 1F
c.851-20_851-18del Single submitter neuropathy, hereditary sensory, type 1F
c.851-67G>A Single submitter
c.978+18T>G Single submitter neuropathy, hereditary sensory, type 1F
c.979-19T>C Single submitter neuropathy, hereditary sensory, type 1F
c.-9+19C>T Single submitter
c.-9+49C>G Single submitter
p.Ala161= Single submitter neuropathy, hereditary sensory, type 1F
p.Ala327= Single submitter neuropathy, hereditary sensory, type 1F
p.Ala348= Single submitter neuropathy, hereditary sensory, type 1F
p.Ala355= Single submitter neuropathy, hereditary sensory, type 1F
p.Ala357= Single submitter neuropathy, hereditary sensory, type 1F
p.Ala359= Single submitter neuropathy, hereditary sensory, type 1F
p.Ala508= Single submitter neuropathy, hereditary sensory, type 1F
p.Ala529= Single submitter neuropathy, hereditary sensory, type 1F
p.Ala540= Single submitter neuropathy, hereditary sensory, type 1F
p.Arg491= Single submitter neuropathy, hereditary sensory, type 1F
p.Arg82= Single submitter neuropathy, hereditary sensory, type 1F
p.Asn352= Single submitter neuropathy, hereditary sensory, type 1F
p.Asn436= Single submitter neuropathy, hereditary sensory, type 1F
p.Asp259= Single submitter neuropathy, hereditary sensory, type 1F
p.Cys262= Single submitter neuropathy, hereditary sensory, type 1F
p.Gln292= Single submitter neuropathy, hereditary sensory, type 1F
p.Gln495= Single submitter neuropathy, hereditary sensory, type 1F
p.Gln5= Single submitter neuropathy, hereditary sensory, type 1F
p.Gln52= Single submitter neuropathy, hereditary sensory, type 1F
p.Gln541= Single submitter neuropathy, hereditary sensory, type 1F
p.Glu220= Single submitter neuropathy, hereditary sensory, type 1F
p.Glu384= Single submitter neuropathy, hereditary sensory, type 1F
p.Glu419= Single submitter neuropathy, hereditary sensory, type 1F
p.Glu498= Single submitter neuropathy, hereditary sensory, type 1F
p.Gly105= Single submitter neuropathy, hereditary sensory, type 1F
p.Gly132= Single submitter neuropathy, hereditary sensory, type 1F
p.Gly133= Single submitter neuropathy, hereditary sensory, type 1F
p.Gly465= Single submitter neuropathy, hereditary sensory, type 1F
p.His339= Single submitter neuropathy, hereditary sensory, type 1F
p.Ile362Val Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Ile518= Single submitter neuropathy, hereditary sensory, type 1F
p.Ile55= Single submitter neuropathy, hereditary sensory, type 1F
p.Leu186= Single submitter neuropathy, hereditary sensory, type 1F
p.Leu195= Single submitter neuropathy, hereditary sensory, type 1F
p.Leu208= Single submitter neuropathy, hereditary sensory, type 1F
p.Leu225= Single submitter neuropathy, hereditary sensory, type 1F
p.Leu264= Single submitter neuropathy, hereditary sensory, type 1F
p.Leu293= Single submitter neuropathy, hereditary sensory, type 1F
p.Leu31= Single submitter neuropathy, hereditary sensory, type 1F
p.Leu321= Single submitter neuropathy, hereditary sensory, type 1F
p.Leu322= Single submitter neuropathy, hereditary sensory, type 1F
p.Leu393= Single submitter neuropathy, hereditary sensory, type 1F
p.Leu41= Single submitter neuropathy, hereditary sensory, type 1F
p.Leu46= Single submitter neuropathy, hereditary sensory, type 1F
p.Leu479= Single submitter neuropathy, hereditary sensory, type 1F
p.Leu50= Single submitter neuropathy, hereditary sensory, type 1F
p.Leu511= Single submitter neuropathy, hereditary sensory, type 1F
p.Leu58= Single submitter
p.Leu77= Single submitter neuropathy, hereditary sensory, type 1F
p.Leu84= Single submitter neuropathy, hereditary sensory, type 1F
p.Lys239= Single submitter neuropathy, hereditary sensory, type 1F
p.Lys400= Single submitter neuropathy, hereditary sensory, type 1F
p.Lys407= Single submitter neuropathy, hereditary sensory, type 1F
p.Lys538= Single submitter neuropathy, hereditary sensory, type 1F
p.Phe438= Single submitter neuropathy, hereditary sensory, type 1F
p.Phe473= Single submitter neuropathy, hereditary sensory, type 1F
p.Pro102= Single submitter neuropathy, hereditary sensory, type 1F
p.Pro218Ser Single submitter Inborn genetic diseases
p.Pro26= Single submitter neuropathy, hereditary sensory, type 1F
p.Pro298= Single submitter neuropathy, hereditary sensory, type 1F
p.Pro338= Single submitter neuropathy, hereditary sensory, type 1F
p.Pro380= Single submitter neuropathy, hereditary sensory, type 1F
p.Pro534= Single submitter neuropathy, hereditary sensory, type 1F
p.Ser48= Single submitter neuropathy, hereditary sensory, type 1F
p.Ser535= Single submitter neuropathy, hereditary sensory, type 1F
p.Thr116= Single submitter neuropathy, hereditary sensory, type 1F
p.Thr164= Single submitter neuropathy, hereditary sensory, type 1F
p.Thr164= Single submitter neuropathy, hereditary sensory, type 1F
p.Thr207= Single submitter neuropathy, hereditary sensory, type 1F
p.Thr261= Single submitter neuropathy, hereditary sensory, type 1F
p.Thr347= Single submitter neuropathy, hereditary sensory, type 1F
p.Thr449= Single submitter neuropathy, hereditary sensory, type 1F
p.Thr486= Single submitter neuropathy, hereditary sensory, type 1F
p.Tyr219= Single submitter neuropathy, hereditary sensory, type 1F
p.Tyr221= Single submitter neuropathy, hereditary sensory, type 1F
p.Tyr377= Single submitter neuropathy, hereditary sensory, type 1F
p.Tyr83= Single submitter neuropathy, hereditary sensory, type 1F
p.Val260= Single submitter neuropathy, hereditary sensory, type 1F
p.Val27= Single submitter neuropathy, hereditary sensory, type 1F
p.Val300= Single submitter neuropathy, hereditary sensory, type 1F
p.Val437Ile Single submitter Inborn genetic diseases
p.Val469= Single submitter neuropathy, hereditary sensory, type 1F
p.Val510= Single submitter neuropathy, hereditary sensory, type 1F
p.Val61= Single submitter neuropathy, hereditary sensory, type 1F
c.406-3del No assertion criteria ATL3-related disorder
c.*10G>A No assertion criteria ATL3-related disorder
p.Arg319Trp No assertion criteria long QT syndrome ⚠

Uncertain significance 278

c.1035+1G>A Multiple submitters neuropathy, hereditary sensory, type 1F
c.46+1G>A Multiple submitters neuropathy, hereditary sensory, type 1F
c.711+1G>T Multiple submitters neuropathy, hereditary sensory, type 1F
c.850+5G>A Multiple submitters Inborn genetic diseases
p.Ala457Val Multiple submitters neuropathy, hereditary sensory, type 1F ⚠
p.Ala508Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala540Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala8Thr Multiple submitters Inborn genetic diseases ⚠
p.Arg194Cys Multiple submitters neuropathy, hereditary sensory, type 1F ⚠
p.Arg194Leu Multiple submitters Inborn genetic diseases ⚠
p.Arg213Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg250Gln Multiple submitters neuropathy, hereditary sensory, type 1F ⚠
p.Arg497Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg82Ter Multiple submitters neuropathy, hereditary sensory, type 1F
p.Asn474Lys Multiple submitters neuropathy, hereditary sensory, type 1F ⚠
p.Asp148Glu Multiple submitters neuropathy, hereditary sensory, type 1F ⚠
p.Asp16His Multiple submitters neuropathy, hereditary sensory, type 1F ⚠
p.Asp259Asn Multiple submitters Inborn genetic diseases ⚠
p.Cys156Ser Multiple submitters Inborn genetic diseases ⚠
p.Cys388Tyr Multiple submitters neuropathy, hereditary sensory, type 1F ⚠
p.Gln28Pro Multiple submitters Inborn genetic diseases ⚠
p.Gln345Leu Multiple submitters neuropathy, hereditary sensory, type 1F ⚠
p.Gln52Arg Multiple submitters Inborn genetic diseases ⚠
p.Glu129del Multiple submitters neuropathy, hereditary sensory, type 1F
p.Glu199Asp Multiple submitters neuropathy, hereditary sensory, type 1F ⚠
p.Glu323Ala Multiple submitters Inborn genetic diseases ⚠
p.Glu335Lys Multiple submitters neuropathy, hereditary sensory, type 1F ⚠
p.Glu349Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu385Lys Multiple submitters neuropathy, hereditary sensory, type 1F ⚠
p.Gly450Ser Multiple submitters neuropathy, hereditary sensory, type 1F ⚠
p.Ile285Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile76Val Multiple submitters Inborn genetic diseases ⚠
p.Leu162Val Multiple submitters Inborn genetic diseases ⚠
p.Leu58Phe Multiple submitters neuropathy, hereditary sensory, type 1F ⚠
p.Lys135= Multiple submitters neuropathy, hereditary sensory, type 1F
p.Lys135Thr Multiple submitters Inborn genetic diseases ⚠
p.Lys154Glu Multiple submitters neuropathy, hereditary sensory, type 1F ⚠
p.Met165Val Multiple submitters neuropathy, hereditary sensory, type 1F ⚠
p.Met1Thr Multiple submitters neuropathy, hereditary sensory, type 1F
p.Met229Val Multiple submitters Inborn genetic diseases ⚠
p.Phe411Leu Multiple submitters neuropathy, hereditary sensory, type 1F ⚠
p.Pro102Leu Multiple submitters neuropathy, hereditary sensory, type 1F ⚠
p.Pro266Ala Multiple submitters neuropathy, hereditary sensory, type 1F ⚠
p.Pro26Ala Multiple submitters neuropathy, hereditary sensory, type 1F ⚠
p.Pro298Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser21Asn Multiple submitters neuropathy, hereditary sensory, type 1F ⚠
p.Ser304Phe Multiple submitters Inborn genetic diseases ⚠
p.Ser314Pro Multiple submitters neuropathy, hereditary sensory, type 1F ⚠
p.Ser93Ter Multiple submitters neuropathy, hereditary sensory, type 1F
p.Thr317fs Multiple submitters Inborn genetic diseases
p.Thr449Met Multiple submitters neuropathy, hereditary sensory, type 1F ⚠
p.Thr522Ile Multiple submitters neuropathy, hereditary sensory, type 1F ⚠
p.Tyr221Asp Multiple submitters neuropathy, hereditary sensory, type 1F ⚠
p.Tyr223Cys Multiple submitters neuropathy, hereditary sensory, type 1F ⚠
p.Tyr299Phe Multiple submitters Inborn genetic diseases ⚠
p.Tyr509Ser Multiple submitters neuropathy, hereditary sensory, type 1F ⚠
p.Val238Met Multiple submitters neuropathy, hereditary sensory, type 1F ⚠
p.Val300Ile Multiple submitters Inborn genetic diseases ⚠
c.1107+4C>G Single submitter neuropathy, hereditary sensory, type 1F
c.1107+4C>T Single submitter neuropathy, hereditary sensory, type 1F
c.1539+1G>A Single submitter neuropathy, hereditary sensory, type 1F
c.262-9C>G Single submitter neuropathy, hereditary sensory, type 1F
c.405+1G>A Single submitter neuropathy, hereditary sensory, type 1F
c.405+1G>T Single submitter neuropathy, hereditary sensory, type 1F
c.405+4del Single submitter neuropathy, hereditary sensory, type 1F
c.405+6G>C Single submitter neuropathy, hereditary sensory, type 1F
c.510+1G>T Single submitter neuropathy, hereditary sensory, type 1F
c.561+3A>G Single submitter neuropathy, hereditary sensory, type 1F
c.561+6T>G Single submitter neuropathy, hereditary sensory, type 1F
c.562-11_562-9del Single submitter neuropathy, hereditary sensory, type 1F
c.562-7T>A Single submitter neuropathy, hereditary sensory, type 1F
c.618+5G>A Single submitter neuropathy, hereditary sensory, type 1F
c.619-4A>G Single submitter neuropathy, hereditary sensory, type 1F
c.711+4A>G Single submitter neuropathy, hereditary sensory, type 1F
c.850+2T>C Single submitter neuropathy, hereditary sensory, type 1F
c.850+3del Single submitter neuropathy, hereditary sensory, type 1F
c.851-2A>C Single submitter neuropathy, hereditary sensory, type 1F
p.Ala10Val Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Ala146Val Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Ala15Val Single submitter Inborn genetic diseases ⚠
p.Ala161Ser Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Ala286Ser Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Ala346Val Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Ala356fs Single submitter
p.Ala357Ser Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Ala394Gly Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Ala394Thr Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Ala502Ser Single submitter Inborn genetic diseases ⚠
p.Ala508Pro Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Ala508Val Single submitter Inborn genetic diseases ⚠
p.Arg213Thr Single submitter Inborn genetic diseases ⚠
p.Arg235Cys Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Arg250Ter Single submitter neuropathy, hereditary sensory, type 1F
p.Arg319Gln Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Arg412His Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Arg442Gln Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Arg497His Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Arg497Leu Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Arg527Lys Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Arg533Lys Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Arg56Gln Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Arg56Pro Single submitter ⚠
p.Arg56Ter Single submitter neuropathy, hereditary sensory, type 1F
p.Asn351Ser Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Asn352Asp Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Asn352Lys Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Asn366Ser Single submitter Inborn genetic diseases ⚠
p.Asn432Asp Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Asn432Ser Single submitter ⚠
p.Asn94Ser Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Asp142fs Single submitter neuropathy, hereditary sensory, type 1F
p.Asp16Gly Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Asp17Gly Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Asp181Asn Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Asp182Gly Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Asp198Gly Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Asp214Glu Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Asp361Glu Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Asp408Asn Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Asp528fs Single submitter
p.Asp528Val Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Asp57Asn Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Asp78Gly Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Cys256Trp Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Cys256Tyr Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Cys262Phe Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Cys318Tyr Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Cys429Trp Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Cys429Tyr Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Cys475Tyr Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Gln185Leu Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Gln206= Single submitter neuropathy, hereditary sensory, type 1F
p.Gln242Ter Single submitter neuropathy, hereditary sensory, type 1F
p.Gln294Ter Single submitter neuropathy, hereditary sensory, type 1F
p.Gln333= Single submitter neuropathy, hereditary sensory, type 1F
p.Gln33Arg Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Gln52_Asp53insGlu Single submitter neuropathy, hereditary sensory, type 1F
p.Gln52Pro Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Gln87Arg Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Glu101Asp Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Glu101Lys Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Glu180Lys Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Glu310Lys Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Glu323Lys Single submitter Inborn genetic diseases ⚠
p.Glu335del Single submitter
p.Glu374fs Single submitter neuropathy, hereditary sensory, type 1F
p.Gly110Val Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Gly193Ser Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Gly228Arg Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Gly25Asp Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Gly269Ala Single submitter ⚠
p.Gly320Ala Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Gly334del Single submitter neuropathy, hereditary sensory, type 1F
p.Gly372Arg Single submitter Inborn genetic diseases ⚠
p.Gly372Glu Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Gly372Trp Single submitter Inborn genetic diseases ⚠
p.Gly405Val Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Gly465fs Single submitter neuropathy, hereditary sensory, type 1F
p.Gly488Val Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Gly494Arg Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Gly501del Single submitter neuropathy, hereditary sensory, type 1F
p.Gly501Ter Single submitter neuropathy, hereditary sensory, type 1F
p.Gly519Asp Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Gly519Ser Single submitter Inborn genetic diseases ⚠
p.His387Gln Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.His397Arg Single submitter Inborn genetic diseases ⚠
p.His397Asn Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.His431Pro Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.His517Arg Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.His517Pro Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.His54Asn Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Ile119Val Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Ile178Thr Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Ile253Thr Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Ile285Val Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Ile382Leu Single submitter Inborn genetic diseases ⚠
p.Ile382Phe Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Ile464Met Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Ile503Val Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Ile55Met Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Ile76fs Single submitter neuropathy, hereditary sensory, type 1F
p.Leu183Arg Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Leu186Arg Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Leu186Pro Single submitter Inborn genetic diseases ⚠
p.Leu188Phe Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Leu2_Ser3delinsSerAla Single submitter neuropathy, hereditary sensory, type 1F
p.Leu208Val Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Leu296Arg Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Leu31Ser Single submitter Inborn genetic diseases ⚠
p.Leu321Ile Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Leu344Phe Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Leu395Met Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Leu395Pro Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Leu460Phe Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Leu460Val Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Leu466Phe Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Leu479Gln Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Lys130Arg Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Lys134fs Single submitter neuropathy, hereditary sensory, type 1F
p.Lys135Arg Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Lys203Asn Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Lys239fs Single submitter neuropathy, hereditary sensory, type 1F
p.Lys315Asn Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Lys315Glu Single submitter Inborn genetic diseases ⚠
p.Lys326= Single submitter neuropathy, hereditary sensory, type 1F
p.Lys341Arg Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Lys360Arg Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Lys375Thr Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Lys400del Single submitter neuropathy, hereditary sensory, type 1F
p.Lys435Asn Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Lys71Arg Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Lys88Arg Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Met197Thr Single submitter Inborn genetic diseases ⚠
p.Met197Val Single submitter ⚠
p.Met229Ile Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Met476Arg Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Met476Val Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Met536Thr Single submitter Inborn genetic diseases ⚠
p.Phe217fs Single submitter neuropathy, hereditary sensory, type 1F
p.Phe390Leu Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Phe438Ile Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Phe463Leu Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Phe473Leu Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Pro114Thr Single submitter Inborn genetic diseases ⚠
p.Pro204Leu Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Pro24Ser Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Pro266Thr Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Pro268Gln Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Pro376Arg Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Pro380fs Single submitter neuropathy, hereditary sensory, type 1F
p.Pro380Thr Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Pro4Leu Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Ser149Gly Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Ser168Phe Single submitter Inborn genetic diseases ⚠
p.Ser175Phe Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Ser216Asn Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Ser255Leu Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Ser275Gly Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Ser3Cys Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Ser3Phe Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Ser515Ala Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Ser74Thr Single submitter Inborn genetic diseases ⚠
p.Ser93Thr Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Thr117Ala Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Thr164Ala Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Thr164Ile Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Thr449Ala Single submitter Inborn genetic diseases ⚠
p.Thr449Lys Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Thr461Ser Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Thr486Ile Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Thr525Ala Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Trp122Cys Single submitter Inborn genetic diseases ⚠
p.Trp487Arg Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Trp487Ter Single submitter neuropathy, hereditary sensory, type 1F
p.Trp95Gly Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Trp95Ser Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Tyr172His Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Tyr219Cys Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Tyr221Cys Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Tyr324Cys Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Tyr455Phe Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Tyr492Phe Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Tyr509Cys Single submitter ⚠
p.Tyr83His Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Tyr85Asn Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Tyr85His Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Val138Gly Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Val153Met Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Val169Leu Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Val212Asp Single submitter Inborn genetic diseases ⚠
p.Val212Phe Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Val238Ala Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Val249Ile Single submitter Inborn genetic diseases ⚠
p.Val260Ile Single submitter Inborn genetic diseases ⚠
p.Val272= Single submitter neuropathy, hereditary sensory, type 1F
p.Val531Phe Single submitter ⚠
p.Val7Ala Single submitter neuropathy, hereditary sensory, type 1F ⚠
p.Val7Leu Single submitter neuropathy, hereditary sensory, type 1F ⚠