TFG — 467 ClinVar variants
All ClinVar germline TFG variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 212 flagged for review →
2 Pathogenic · 2 Pathogenic/Likely pathogenic · 1 Likely pathogenic · 10 Conflicting · 44 Benign · 6 Benign/Likely benign · 165 Likely benign · 237 Uncertain significance
Full TFG gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 212
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.
-
TFG p.Pro285Leu
Pathogenic/Likely pathogenic
Multiple submitters
Amyotrophic Lateral Sclerosis with Sensory Neuropathy
Predictors agree, ClinVar conflicts 7
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
TFG p.Ala350Thr
Conflicting
Single submitter
Inborn genetic diseases
-
TFG p.Arg106His
Conflicting
Single submitter
TFG-related disorder
-
TFG p.Asn323Ser
Conflicting
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Gln246His
Conflicting
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Pro354Ala
Conflicting
Single submitter
hereditary spastic paraplegia 57
-
TFG p.Thr330Ala
Conflicting
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Tyr104His
Conflicting
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
Predictors lean, ClinVar uncertain 141
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
TFG p.Ala326Ser
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 57
-
TFG p.Ala382Val
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 57
-
TFG p.Arg107Gln
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 57
-
TFG p.Arg23Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TFG p.Arg385His
Uncertain significance
Multiple submitters
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Asn114Ser
Uncertain significance
Multiple submitters
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Asn134Ser
Uncertain significance
Multiple submitters
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Asn178Ser
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 57
-
TFG p.Asp189Asn
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 57
-
TFG p.Gln294His
Uncertain significance
Multiple submitters
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Gly391Val
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 57
-
TFG p.Ile135Thr
Uncertain significance
Multiple submitters
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Ile21Phe
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 57
-
TFG p.Ile66Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TFG p.Leu49Met
Uncertain significance
Multiple submitters
TFG-related disorder
-
TFG p.Met371Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TFG p.Phe363Val
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 57
-
TFG p.Pro131Ser
Uncertain significance
Multiple submitters
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Pro258Leu
Uncertain significance
Multiple submitters
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Pro315Leu
Uncertain significance
Multiple submitters
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Pro336Ser
Uncertain significance
Multiple submitters
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Pro373Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TFG p.Pro375Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TFG p.Ser132Tyr
Uncertain significance
Multiple submitters
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Thr230Lys
Uncertain significance
Multiple submitters
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Thr234Ala
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 57
-
TFG p.Thr370Ile
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 57
-
TFG p.Thr393Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TFG p.Tyr276His
Uncertain significance
Multiple submitters
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Val222Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TFG p.Val54Ile
Uncertain significance
Multiple submitters
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Ala15Thr
Uncertain significance
Single submitter
hereditary spastic paraplegia 57
-
TFG p.Ala162Thr
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Ala211Val
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Ala274Val
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Ala321Gly
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Ala344Thr
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Ala77Val
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Arg106Leu
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Arg113Leu
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Arg118His
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Arg203His
Uncertain significance
Single submitter
hereditary spastic paraplegia 57
- TFG p.Arg23Leu Uncertain significance Single submitter
- TFG p.Arg42Gln Uncertain significance Single submitter
-
TFG p.Asn173Ser
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Asn338Asp
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Asn338Lys
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Asp121Tyr
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
- TFG p.Asp151His Uncertain significance Single submitter
-
TFG p.Asp175Gly
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Asp189Glu
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
- TFG p.Asp189Gly Uncertain significance Single submitter
-
TFG p.Asp34Val
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Asp6Ala
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Asp6Gly
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Gln156Arg
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Gln242His
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Gln248Arg
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Gln248His
Uncertain significance
Single submitter
Inborn genetic diseases
-
TFG p.Gln278Pro
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Gln284Pro
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Gln298Arg
Uncertain significance
Single submitter
hereditary spastic paraplegia 57
-
TFG p.Gln320His
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Gln327Arg
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Gln332Arg
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Gln346Pro
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
- TFG p.Gln390Arg Uncertain significance Single submitter
-
TFG p.Gln79His
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Glu111Ala
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Glu137Gln
Uncertain significance
Single submitter
hereditary spastic paraplegia 57
- TFG p.Glu240Asp Uncertain significance Single submitter
-
TFG p.Gly18Ala
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Gly237Ser
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Gly252Ser
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Gly292Ala
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Gly292Ser
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Gly362Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
TFG p.Gly391Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
TFG p.Gly9Arg
Uncertain significance
Single submitter
hereditary spastic paraplegia 57
-
TFG p.His27Arg
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Ile110Met
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Ile135Val
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Ile21Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TFG p.Ile239Val
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Ile270Leu
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Ile56Val
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Ile66Met
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Ile66Thr
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Leu119Ser
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Leu366His
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Leu65Arg
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Lys14Ile
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Lys155Arg
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Lys59Glu
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Lys85Thr
Uncertain significance
Single submitter
hereditary spastic paraplegia 57
-
TFG p.Met161Ile
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Met161Thr
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Met161Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TFG p.Met182Leu
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Met182Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TFG p.Met243Ile
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Met371Thr
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Met371Val
Uncertain significance
Single submitter
hereditary spastic paraplegia 57
-
TFG p.Pro195Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TFG p.Pro261Ala
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Pro300Ser
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Pro300Thr
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
- TFG p.Pro308Ser Uncertain significance Single submitter
-
TFG p.Pro315Ser
Uncertain significance
Single submitter
hereditary spastic paraplegia 57
-
TFG p.Pro315Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TFG p.Pro343Ala
Uncertain significance
Single submitter
hereditary spastic paraplegia 57
-
TFG p.Pro351Ser
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Pro373Leu
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Pro374Ser
Uncertain significance
Single submitter
hereditary spastic paraplegia 57
-
TFG p.Pro375Ser
Uncertain significance
Single submitter
hereditary spastic paraplegia 57
- TFG p.Pro378Ala Uncertain significance Single submitter
-
TFG p.Pro378Leu
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Pro380His
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
- TFG p.Ser100Asn Uncertain significance Single submitter
- TFG p.Ser122Gly Uncertain significance Single submitter
- TFG p.Ser152Phe Uncertain significance Single submitter
-
TFG p.Ser153Phe
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
- TFG p.Ser183Pro Uncertain significance Single submitter
-
TFG p.Ser277Asn
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
- TFG p.Ser277Gly Uncertain significance Single submitter
-
TFG p.Ser352Gly
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Ser72Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- TFG p.Ser8Arg Uncertain significance Single submitter
-
TFG p.Thr133Ile
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
- TFG p.Thr188Ala Uncertain significance Single submitter
-
TFG p.Thr230Ala
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Thr230Ile
Uncertain significance
Single submitter
hereditary spastic paraplegia 57
-
TFG p.Thr234Ile
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Thr337Ala
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Thr393Asn
Uncertain significance
Single submitter
hereditary spastic paraplegia 57
-
TFG p.Tyr272Phe
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Tyr329Ser
Uncertain significance
Single submitter
hereditary spastic paraplegia 57
-
TFG p.Tyr33Cys
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Tyr33His
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Tyr58Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
TFG p.Val90Ile
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
Predictors split 63
The independent predictors disagree with each other — read with care.
-
TFG p.Ala184Thr
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 57
-
TFG p.Arg107Pro
Uncertain significance
Multiple submitters
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Arg118Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TFG p.Arg383Cys
Uncertain significance
Multiple submitters
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Arg385Cys
Uncertain significance
Multiple submitters
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Arg400Pro
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 57
-
TFG p.Asp121Asn
Uncertain significance
Multiple submitters
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Gly186Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TFG p.Ile12Val
Uncertain significance
Multiple submitters
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Ile13Val
Uncertain significance
Multiple submitters
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Ile21Val
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 57
-
TFG p.Leu97His
Uncertain significance
Multiple submitters
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Met182Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TFG p.Pro386Leu
Uncertain significance
Multiple submitters
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Ser214Phe
Uncertain significance
Multiple submitters
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Ser365Leu
Uncertain significance
Multiple submitters
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Tyr268Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TFG p.Ala167Thr
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
- TFG p.Asn91Lys Uncertain significance Single submitter
-
TFG p.Asp208Asn
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Gln101Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TFG p.Gln101His
Uncertain significance
Single submitter
hereditary spastic paraplegia 57
-
TFG p.Gln256Lys
Uncertain significance
Single submitter
hereditary spastic paraplegia 57
-
TFG p.Gln259Arg
Uncertain significance
Single submitter
hereditary spastic paraplegia 57
-
TFG p.Gln264His
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Gln266Glu
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Gln284Glu
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Gln284His
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Gln294Lys
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Gln309Glu
Uncertain significance
Single submitter
hereditary spastic paraplegia 57
-
TFG p.Gln310Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TFG p.Gln310Lys
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Gln93Arg
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Glu19Gly
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Glu61Asp
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Glu98Ala
Uncertain significance
Single submitter
hereditary spastic paraplegia 57
-
TFG p.Gly186Asp
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Gly231Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TFG p.Gly389Arg
Uncertain significance
Single submitter
hereditary spastic paraplegia 57
-
TFG p.Gly389Asp
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Gly396Glu
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Leu86Val
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
- TFG p.Leu97Pro Uncertain significance Single submitter
-
TFG p.Lys172Glu
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Lys179Glu
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Met165Ile
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Phe388Cys
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Pro125Ser
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Pro207Ser
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Pro308Arg
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Pro308Leu
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Pro94Thr
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Pro96Ser
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Ser213Cys
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Ser214Cys
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Ser305Cys
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Ser345Phe
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Tyr229Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
TFG p.Tyr253Cys
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Tyr276Cys
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Tyr291Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
TFG p.Tyr357Cys
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
-
TFG p.Tyr392Cys
Uncertain significance
Single submitter
hereditary motor and sensory neuropathy, Okinawa type
All TFG variants
Pathogenic 2
- p.Arg106Cys Multiple submitters hereditary spastic paraplegia 57
- p.Arg22Trp Multiple submitters hereditary motor and sensory neuropathy, Okinawa type
Pathogenic/Likely pathogenic 2
- p.Pro285Leu Multiple submitters Amyotrophic Lateral Sclerosis with Sensory Neuropathy ⚠
- p.Gly269Val No assertion criteria hereditary spastic paraplegia 57
Likely pathogenic 1
- p.Arg113Ter Single submitter
Conflicting classifications of pathogenicity 10
- p.Ala350Thr Single submitter Inborn genetic diseases ⚠
- p.Arg106His Single submitter TFG-related disorder ⚠
- p.Arg400Gln Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Asn323Ser Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Gln246His Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Gln257= Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Leu109= Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Pro354Ala Single submitter hereditary spastic paraplegia 57 ⚠
- p.Thr330Ala Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Tyr104His Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
Benign 44
- c.184+39A>T Multiple submitters hereditary spastic paraplegia 57
- c.184+40A>T Multiple submitters
- c.184+54A>G Multiple submitters
- c.185-35A>G Multiple submitters
- c.415+16A>G Multiple submitters hereditary spastic paraplegia 57
- c.580+50G>A Multiple submitters
- c.722-26T>G Multiple submitters
- c.722-8G>T Multiple submitters hereditary motor and sensory neuropathy, Okinawa type
- c.820+209T>C Multiple submitters
- c.-149G>C Multiple submitters
- c.-323G>T Multiple submitters
- c.-44+79T>C Multiple submitters
- c.*298G>A Multiple submitters
- c.*301A>T Multiple submitters
- c.*38A>G Multiple submitters
- p.Pro282= Multiple submitters hereditary motor and sensory neuropathy, Okinawa type
- p.Pro315= Multiple submitters hereditary spastic paraplegia 57
- p.Thr364Pro Multiple submitters hereditary motor and sensory neuropathy, Okinawa type
- c.184+262C>T Single submitter
- c.184+33_184+34insCT Single submitter
- c.184+55del Single submitter
- c.185-10del Single submitter
- c.185-10T>C Single submitter hereditary motor and sensory neuropathy, Okinawa type
- c.185-11_185-10del Single submitter hereditary motor and sensory neuropathy, Okinawa type
- c.268+223del Single submitter
- c.268+289A>G Single submitter
- c.269-140T>A Single submitter
- c.269-179dup Single submitter
- c.269-238C>G Single submitter
- c.416-181T>A Single submitter
- c.580+264T>C Single submitter
- c.581-11dup Single submitter hereditary spastic paraplegia 57
- c.581-281T>C Single submitter
- c.721+242C>T Single submitter
- c.721+269G>C Single submitter
- c.721+270A>G Single submitter
- c.721+50del Single submitter
- c.722-25TG[10] Single submitter
- c.820+252_820+253del Single submitter
- c.821-285A>G Single submitter
- c.-253A>G Single submitter
- c.-43-70_-43-66del Single submitter
- c.-44+47del Single submitter
- c.185-10dup No assertion criteria
Benign/Likely benign 6
- c.184+11T>C Multiple submitters hereditary motor and sensory neuropathy, Okinawa type
- c.415+7C>G Multiple submitters hereditary spastic paraplegia 57
- c.416-9T>C Multiple submitters hereditary motor and sensory neuropathy, Okinawa type
- c.722-25TG[11] Multiple submitters
- p.Ala198= Multiple submitters Inborn genetic diseases
- p.Gly221= Multiple submitters hereditary motor and sensory neuropathy, Okinawa type
Likely benign 165
- c.184+41A>T Multiple submitters
- c.185-9A>T Multiple submitters hereditary spastic paraplegia 57
- c.415+89G>A Multiple submitters
- c.722-25TG[12] Multiple submitters
- c.820+59T>C Multiple submitters
- p.Ala251= Multiple submitters hereditary motor and sensory neuropathy, Okinawa type
- p.Ala255= Multiple submitters Inborn genetic diseases
- p.Ala382= Multiple submitters hereditary motor and sensory neuropathy, Okinawa type
- p.Arg113= Multiple submitters hereditary motor and sensory neuropathy, Okinawa type
- p.Arg360Lys Multiple submitters hereditary motor and sensory neuropathy, Okinawa type
- p.Asn2= Multiple submitters hereditary motor and sensory neuropathy, Okinawa type
- p.Gln235= Multiple submitters hereditary motor and sensory neuropathy, Okinawa type
- p.Gln327= Multiple submitters Inborn genetic diseases
- p.Lys57= Multiple submitters hereditary motor and sensory neuropathy, Okinawa type
- p.Lys59= Multiple submitters hereditary motor and sensory neuropathy, Okinawa type
- p.Ser153Ala Multiple submitters hereditary spastic paraplegia 57
- p.Ser71= Multiple submitters hereditary motor and sensory neuropathy, Okinawa type
- p.Ser75= Multiple submitters Inborn genetic diseases
- p.Tyr33= Multiple submitters hereditary motor and sensory neuropathy, Okinawa type
- c.184+13T>C Single submitter hereditary motor and sensory neuropathy, Okinawa type
- c.184+18G>C Single submitter hereditary motor and sensory neuropathy, Okinawa type
- c.184+33_184+34insCTT Single submitter
- c.184+38dup Single submitter
- c.184+55dup Single submitter
- c.185-10T>A Single submitter hereditary motor and sensory neuropathy, Okinawa type
- c.185-12T>C Single submitter hereditary spastic paraplegia 57
- c.185-13T>C Single submitter hereditary motor and sensory neuropathy, Okinawa type
- c.185-57T>C Single submitter
- c.185-7del Single submitter hereditary motor and sensory neuropathy, Okinawa type
- c.268+12A>G Single submitter hereditary motor and sensory neuropathy, Okinawa type
- c.268+13C>T Single submitter
- c.268+18del Single submitter hereditary spastic paraplegia 57
- c.268+18T>A Single submitter hereditary motor and sensory neuropathy, Okinawa type
- c.268+20A>T Single submitter hereditary motor and sensory neuropathy, Okinawa type
- c.268+7A>G Single submitter hereditary spastic paraplegia 57
- c.268+8G>A Single submitter hereditary motor and sensory neuropathy, Okinawa type
- c.269-110T>C Single submitter
- c.269-139A>T Single submitter
- c.269-13G>A Single submitter hereditary spastic paraplegia 57
- c.269-141_269-140insA Single submitter
- c.269-141T>A Single submitter
- c.269-5T>C Single submitter hereditary motor and sensory neuropathy, Okinawa type
- c.415+12del Single submitter hereditary spastic paraplegia 57
- c.415+18T>G Single submitter hereditary motor and sensory neuropathy, Okinawa type
- c.415+230G>A Single submitter
- c.415+8del Single submitter hereditary motor and sensory neuropathy, Okinawa type
- c.416-12C>G Single submitter hereditary motor and sensory neuropathy, Okinawa type
- c.416-4A>G Single submitter hereditary spastic paraplegia 57
- c.416-633C>T Single submitter
- c.416-8T>A Single submitter hereditary spastic paraplegia 57
- c.580+14del Single submitter hereditary motor and sensory neuropathy, Okinawa type
- c.580+16A>G Single submitter hereditary motor and sensory neuropathy, Okinawa type
- c.580+19C>T Single submitter hereditary motor and sensory neuropathy, Okinawa type
- c.580+20C>T Single submitter hereditary motor and sensory neuropathy, Okinawa type
- c.580+252G>A Single submitter
- c.581-10G>A Single submitter hereditary motor and sensory neuropathy, Okinawa type
- c.581-10G>T Single submitter hereditary spastic paraplegia 57
- c.581-14_581-11del Single submitter hereditary motor and sensory neuropathy, Okinawa type
- c.581-6A>C Single submitter hereditary motor and sensory neuropathy, Okinawa type
- c.581-7T>C Single submitter hereditary motor and sensory neuropathy, Okinawa type
- c.581-8C>A Single submitter hereditary spastic paraplegia 57
- c.721+14del Single submitter hereditary motor and sensory neuropathy, Okinawa type
- c.721+14T>C Single submitter hereditary motor and sensory neuropathy, Okinawa type
- c.721+19C>T Single submitter hereditary motor and sensory neuropathy, Okinawa type
- c.721+20A>T Single submitter hereditary motor and sensory neuropathy, Okinawa type
- c.721+8dup Single submitter hereditary motor and sensory neuropathy, Okinawa type
- c.722-10G>C Single submitter hereditary motor and sensory neuropathy, Okinawa type
- c.722-12G>A Single submitter hereditary motor and sensory neuropathy, Okinawa type
- c.722-15T>C Single submitter hereditary spastic paraplegia 57
- c.722-25TG[5] Single submitter hereditary motor and sensory neuropathy, Okinawa type
- c.722-25TG[6] Single submitter hereditary spastic paraplegia 57
- c.722-25TG[8] Single submitter
- c.722-5_722-4dup Single submitter hereditary motor and sensory neuropathy, Okinawa type
- c.722-8G>A Single submitter hereditary motor and sensory neuropathy, Okinawa type
- c.820+15_820+19del Single submitter hereditary motor and sensory neuropathy, Okinawa type
- c.820+18G>A Single submitter hereditary motor and sensory neuropathy, Okinawa type
- c.820+19G>C Single submitter hereditary motor and sensory neuropathy, Okinawa type
- c.820+234T>C Single submitter
- c.820+8G>A Single submitter hereditary motor and sensory neuropathy, Okinawa type
- c.821-148T>C Single submitter
- c.821-14T>C Single submitter hereditary motor and sensory neuropathy, Okinawa type
- c.821-18_821-16del Single submitter hereditary motor and sensory neuropathy, Okinawa type
- c.821-18T>C Single submitter hereditary motor and sensory neuropathy, Okinawa type
- c.821-20T>A Single submitter hereditary spastic paraplegia 57
- c.821-21T>G Single submitter hereditary spastic paraplegia 57
- c.821-5T>C Single submitter hereditary motor and sensory neuropathy, Okinawa type
- c.-43-161A>G Single submitter
- c.*221_*222del Single submitter
- c.*272T>G Single submitter
- p.Ala163= Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Ala184= Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Ala200= Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Ala303Val Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Ala313= Single submitter hereditary spastic paraplegia 57
- p.Ala331= Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Ala77= Single submitter hereditary spastic paraplegia 57
- p.Arg144= Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Arg45= Single submitter hereditary spastic paraplegia 57
- p.Asp139= Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Asp73= Single submitter hereditary spastic paraplegia 57
- p.Gln101= Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Gln283= Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Gln289= Single submitter hereditary spastic paraplegia 57
- p.Gln309= Single submitter hereditary spastic paraplegia 57
- p.Gln310= Single submitter
- p.Gln318= Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Gln332= Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Gln390= Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Gln394= Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Glu108= Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Glu128= Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Glu146= Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Glu19= Single submitter hereditary spastic paraplegia 57
- p.Glu35= Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Gly252= Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Gly290= Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Gly377= Single submitter hereditary spastic paraplegia 57
- p.Gly396= Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Gly92= Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Ile177= Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Ile239Thr Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Ile78= Single submitter hereditary spastic paraplegia 57
- p.Leu11= Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Leu171= Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Leu311= Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Leu86= Single submitter hereditary spastic paraplegia 57
- p.Leu88= Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Leu97= Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Lys103= Single submitter hereditary spastic paraplegia 57
- p.Phe168= Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Pro195= Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Pro196= Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Pro199= Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Pro207= Single submitter hereditary spastic paraplegia 57
- p.Pro220= Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Pro224= Single submitter hereditary spastic paraplegia 57
- p.Pro228= Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Pro258= Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Pro261= Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Pro265= Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Pro354= Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Pro395= Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Pro397= Single submitter hereditary spastic paraplegia 57
- p.Pro96= Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Ser212= Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Ser334= Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Ser8= Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Ter401= Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Thr158= Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Thr230= Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Thr296= Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Thr372= Single submitter hereditary spastic paraplegia 57
- p.Thr393= Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Thr87= Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Tyr104= Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Tyr247= Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Tyr276= Single submitter hereditary spastic paraplegia 57
- p.Tyr329= Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Tyr392= Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Tyr58= Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Val116= Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Val181= Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Val54= Single submitter hereditary spastic paraplegia 57
- c.722-10del No assertion criteria TFG-related disorder
- c.722-8del No assertion criteria TFG-related disorder
Uncertain significance 237
- c.820+3G>A Multiple submitters hereditary motor and sensory neuropathy, Okinawa type
- p.Ala184Thr Multiple submitters hereditary spastic paraplegia 57 ⚠
- p.Ala326Ser Multiple submitters hereditary spastic paraplegia 57 ⚠
- p.Ala382Val Multiple submitters hereditary spastic paraplegia 57 ⚠
- p.Arg107Gln Multiple submitters hereditary spastic paraplegia 57 ⚠
- p.Arg107Pro Multiple submitters hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Arg118Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg23Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg383Cys Multiple submitters hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Arg385Cys Multiple submitters hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Arg385His Multiple submitters hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Arg400Pro Multiple submitters hereditary spastic paraplegia 57 ⚠
- p.Arg400Ter Multiple submitters hereditary motor and sensory neuropathy, Okinawa type
- p.Asn114Ser Multiple submitters hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Asn134Ser Multiple submitters hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Asn178Ser Multiple submitters hereditary spastic paraplegia 57 ⚠
- p.Asp121Asn Multiple submitters hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Asp189Asn Multiple submitters hereditary spastic paraplegia 57 ⚠
- p.Gln294His Multiple submitters hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Gly186Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly391Val Multiple submitters hereditary spastic paraplegia 57 ⚠
- p.Ile12Val Multiple submitters hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Ile135Thr Multiple submitters hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Ile13Val Multiple submitters hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Ile21Phe Multiple submitters hereditary spastic paraplegia 57 ⚠
- p.Ile21Val Multiple submitters hereditary spastic paraplegia 57 ⚠
- p.Ile66Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu49Met Multiple submitters TFG-related disorder ⚠
- p.Leu97His Multiple submitters hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Met182Thr Multiple submitters Inborn genetic diseases ⚠
- p.Met371Ile Multiple submitters Inborn genetic diseases ⚠
- p.Phe363Val Multiple submitters hereditary spastic paraplegia 57 ⚠
- p.Pro131Ser Multiple submitters hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Pro258Leu Multiple submitters hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Pro315Leu Multiple submitters hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Pro336Ser Multiple submitters hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Pro373Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro375Ala Multiple submitters Inborn genetic diseases ⚠
- p.Pro386Leu Multiple submitters hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Ser132Tyr Multiple submitters hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Ser214Phe Multiple submitters hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Ser365Leu Multiple submitters hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Thr230Lys Multiple submitters hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Thr234Ala Multiple submitters hereditary spastic paraplegia 57 ⚠
- p.Thr370Ile Multiple submitters hereditary spastic paraplegia 57 ⚠
- p.Thr393Ile Multiple submitters Inborn genetic diseases ⚠
- p.Tyr247Cys Multiple submitters hereditary spastic paraplegia 57
- p.Tyr268Cys Multiple submitters Inborn genetic diseases ⚠
- p.Tyr276His Multiple submitters hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Val222Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val54Ile Multiple submitters hereditary motor and sensory neuropathy, Okinawa type ⚠
- c.184+5G>A Single submitter hereditary motor and sensory neuropathy, Okinawa type
- c.184+6A>C Single submitter hereditary motor and sensory neuropathy, Okinawa type
- c.580+4A>C Single submitter Inborn genetic diseases
- c.580+6T>C Single submitter hereditary spastic paraplegia 57
- c.581-24_581-9del Single submitter hereditary motor and sensory neuropathy, Okinawa type
- c.581-8C>G Single submitter hereditary spastic paraplegia 57
- c.-43-1del Single submitter
- p.Ala15Thr Single submitter hereditary spastic paraplegia 57 ⚠
- p.Ala162Thr Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Ala167Thr Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Ala200del Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Ala211Val Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Ala274Val Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Ala321Gly Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Ala344Thr Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Ala77Val Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Arg106Leu Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Arg113Leu Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Arg118His Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Arg203His Single submitter hereditary spastic paraplegia 57 ⚠
- p.Arg23Leu Single submitter ⚠
- p.Arg360Gly Single submitter Inborn genetic diseases
- p.Arg385Gly Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Arg42Gln Single submitter ⚠
- p.Asn173Ser Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Asn338Asp Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Asn338Lys Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Asn91Lys Single submitter ⚠
- p.Asp121Tyr Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Asp151His Single submitter ⚠
- p.Asp175Gly Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Asp189Glu Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Asp189Gly Single submitter ⚠
- p.Asp208Asn Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Asp34Val Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Asp6Ala Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Asp6Gly Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Gln101Arg Single submitter Inborn genetic diseases ⚠
- p.Gln101His Single submitter hereditary spastic paraplegia 57 ⚠
- p.Gln156Arg Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Gln242His Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Gln248Arg Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Gln248His Single submitter Inborn genetic diseases ⚠
- p.Gln256Lys Single submitter hereditary spastic paraplegia 57 ⚠
- p.Gln259Arg Single submitter hereditary spastic paraplegia 57 ⚠
- p.Gln264His Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Gln266Glu Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Gln278Pro Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Gln284Glu Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Gln284His Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Gln284Pro Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Gln294Lys Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Gln298Arg Single submitter hereditary spastic paraplegia 57 ⚠
- p.Gln309Glu Single submitter hereditary spastic paraplegia 57 ⚠
- p.Gln310Glu Single submitter Inborn genetic diseases ⚠
- p.Gln310Lys Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Gln320His Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Gln327Arg Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Gln332Arg Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Gln346Pro Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Gln346Ter Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Gln390Arg Single submitter ⚠
- p.Gln4Lys Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Gln79His Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Gln93Arg Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Glu111Ala Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Glu137Gln Single submitter hereditary spastic paraplegia 57 ⚠
- p.Glu146fs Single submitter hereditary spastic paraplegia 57
- p.Glu19Gly Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Glu240Asp Single submitter ⚠
- p.Glu61Asp Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Glu98Ala Single submitter hereditary spastic paraplegia 57 ⚠
- p.Gly186Asp Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Gly18Ala Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Gly231Arg Single submitter Inborn genetic diseases ⚠
- p.Gly237Ser Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Gly241= Single submitter
- p.Gly252Ser Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Gly254Asp Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Gly292Ala Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Gly292Ser Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Gly362Ala Single submitter Inborn genetic diseases ⚠
- p.Gly389Arg Single submitter hereditary spastic paraplegia 57 ⚠
- p.Gly389Asp Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Gly391Ser Single submitter Inborn genetic diseases ⚠
- p.Gly396Glu Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Gly9Arg Single submitter hereditary spastic paraplegia 57 ⚠
- p.His27Arg Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Ile110Met Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Ile135Val Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Ile21Thr Single submitter Inborn genetic diseases ⚠
- p.Ile239Val Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Ile270Leu Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Ile56Val Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Ile66Met Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Ile66Thr Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Leu119Ser Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Leu366His Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Leu65Arg Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Leu86Val Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Leu88del Single submitter
- p.Leu97Pro Single submitter ⚠
- p.Lys14Ile Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Lys155Arg Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Lys172Glu Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Lys179Glu Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Lys59Glu Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Lys85Thr Single submitter hereditary spastic paraplegia 57 ⚠
- p.Met161Ile Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Met161Thr Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Met161Val Single submitter Inborn genetic diseases ⚠
- p.Met165Ile Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Met165Val Single submitter
- p.Met182Leu Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Met182Val Single submitter Inborn genetic diseases ⚠
- p.Met243Ile Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Met371Thr Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Met371Val Single submitter hereditary spastic paraplegia 57 ⚠
- p.Phe388Cys Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Pro125Ser Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Pro195Leu Single submitter Inborn genetic diseases ⚠
- p.Pro207Ser Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Pro261Ala Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Pro282Leu Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Pro300Ser Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Pro300Thr Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Pro308Arg Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Pro308Leu Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Pro308Ser Single submitter ⚠
- p.Pro315Ser Single submitter hereditary spastic paraplegia 57 ⚠
- p.Pro315Thr Single submitter Inborn genetic diseases ⚠
- p.Pro343Ala Single submitter hereditary spastic paraplegia 57 ⚠
- p.Pro351Ser Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Pro373Leu Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Pro374fs Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Pro374Ser Single submitter hereditary spastic paraplegia 57 ⚠
- p.Pro375Ser Single submitter hereditary spastic paraplegia 57 ⚠
- p.Pro378Ala Single submitter ⚠
- p.Pro378Leu Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Pro380His Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Pro94Thr Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Pro96Ser Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Ser100Asn Single submitter ⚠
- p.Ser122Gly Single submitter ⚠
- p.Ser150del Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Ser152Phe Single submitter ⚠
- p.Ser153Phe Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Ser183Pro Single submitter ⚠
- p.Ser213Cys Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Ser214Cys Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Ser277Asn Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Ser277Gly Single submitter ⚠
- p.Ser297fs Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Ser305Cys Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Ser345Phe Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Ser352= Single submitter
- p.Ser352Gly Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Ser72Cys Single submitter Inborn genetic diseases ⚠
- p.Ser8Arg Single submitter ⚠
- p.Thr133Ile Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Thr188Ala Single submitter ⚠
- p.Thr230Ala Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Thr230Ile Single submitter hereditary spastic paraplegia 57 ⚠
- p.Thr234Ile Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Thr337Ala Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Thr370fs Single submitter
- p.Thr393Asn Single submitter hereditary spastic paraplegia 57 ⚠
- p.Tyr229Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr244Cys Single submitter Inborn genetic diseases
- p.Tyr253Cys Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Tyr272Phe Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Tyr276Cys Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Tyr291Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr324Ter Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Tyr329Ser Single submitter hereditary spastic paraplegia 57 ⚠
- p.Tyr329Ter Single submitter hereditary spastic paraplegia 57
- p.Tyr339Ter Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Tyr33Cys Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Tyr33His Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Tyr33Ter Single submitter hereditary spastic paraplegia 57
- p.Tyr357Cys Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Tyr392Cys Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠
- p.Tyr58Cys Single submitter Inborn genetic diseases ⚠
- p.Val160fs Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Val181del Single submitter hereditary motor and sensory neuropathy, Okinawa type
- p.Val90Ile Single submitter hereditary motor and sensory neuropathy, Okinawa type ⚠