BSCL2 — 576 ClinVar variants

All ClinVar germline BSCL2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 257 flagged for review →

27 Pathogenic · 5 Pathogenic/Likely pathogenic · 16 Likely pathogenic · 50 Conflicting · 16 Benign · 8 Benign/Likely benign · 162 Likely benign · 292 Uncertain significance

Full BSCL2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 257

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 2

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

BSCL2 p.Asn152Ser Pathogenic Multiple submitters
neuronopathy, distal hereditary motor, type 5C
BSCL2 p.Ser154Leu Pathogenic/Likely pathogenic Multiple submitters
Abnormal central motor function

Predictors agree, ClinVar conflicts 9

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

BSCL2 p.Ala282Val Conflicting Single submitter
monogenic diabetes
BSCL2 p.Arg331His Conflicting Single submitter
Inborn genetic diseases
BSCL2 p.Gln368Lys Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Gly275Arg Conflicting Single submitter
Inborn genetic diseases
BSCL2 p.Leu427Pro Conflicting Single submitter
congenital generalized lipodystrophy type 2
BSCL2 p.Pro430Ser Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Ser382Leu Conflicting Single submitter
hereditary spastic paraplegia
BSCL2 p.Thr156Ala Conflicting Single submitter
Inborn genetic diseases
BSCL2 p.Val312Ile Conflicting Single submitter
Charcot-Marie-Tooth disease type 2

Predictors lean, ClinVar uncertain 139

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

BSCL2 p.Ala249Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
BSCL2 p.Ala282Thr Uncertain significance Multiple submitters
Inborn genetic diseases
BSCL2 p.Ala452Ser Uncertain significance Multiple submitters
Inborn genetic diseases
BSCL2 p.Arg160Cys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
BSCL2 p.Arg162Gln Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
BSCL2 p.Arg329Gln Uncertain significance Multiple submitters
congenital generalized lipodystrophy type 2
BSCL2 p.Arg345Gln Uncertain significance Multiple submitters
severe neurodegenerative syndrome with lipodystrophy
BSCL2 p.Arg350Gln Uncertain significance Multiple submitters
neuronopathy, distal hereditary motor, type 5C
BSCL2 p.Asn67His Uncertain significance Multiple submitters
congenital generalized lipodystrophy type 2
BSCL2 p.Asp342Ala Uncertain significance Multiple submitters
Inborn genetic diseases
BSCL2 p.Cys459Ser Uncertain significance Multiple submitters
Inborn genetic diseases
BSCL2 p.Gln387Arg Uncertain significance Multiple submitters
neuronopathy, distal hereditary motor, type 5C
BSCL2 p.Glu424Gln Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
BSCL2 p.Gly261Glu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
BSCL2 p.Gly358Glu Uncertain significance Multiple submitters
Inborn genetic diseases
BSCL2 p.Gly383Arg Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
BSCL2 p.Gly444Ser Uncertain significance Multiple submitters
Inborn genetic diseases
BSCL2 p.Gly86Asp Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
BSCL2 p.Leu104His Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
BSCL2 p.Leu422Val Uncertain significance Multiple submitters
congenital generalized lipodystrophy type 2
BSCL2 p.Lys393Asn Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
BSCL2 p.Met222Ile Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
BSCL2 p.Phe148Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
BSCL2 p.Phe307Leu Uncertain significance Multiple submitters
hereditary spastic paraplegia 17
BSCL2 p.Pro258Leu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
BSCL2 p.Pro357Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
BSCL2 p.Pro398Arg Uncertain significance Multiple submitters
Inborn genetic diseases
BSCL2 p.Pro407Leu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
BSCL2 p.Pro428Ser Uncertain significance Multiple submitters
hereditary spastic paraplegia
BSCL2 p.Pro457Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
BSCL2 p.Pro69Leu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
BSCL2 p.Pro69Ser Uncertain significance Multiple submitters
young-onset Parkinson disease
BSCL2 p.Pro72Ala Uncertain significance Multiple submitters
neuronopathy, distal hereditary motor, type 5C
BSCL2 p.Ser115Phe Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
BSCL2 p.Ser141Phe Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
BSCL2 p.Ser382Pro Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
BSCL2 p.Ser434Ala Uncertain significance Multiple submitters
neuronopathy, distal hereditary motor, type 5C
BSCL2 p.Ser434Pro Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
BSCL2 p.Thr308Ile Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
BSCL2 p.Trp323Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
BSCL2 p.Tyr113Cys Uncertain significance Multiple submitters
Inborn genetic diseases
BSCL2 p.Tyr117Cys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
BSCL2 p.Tyr277His Uncertain significance Multiple submitters
neuronopathy, distal hereditary motor, type 5C
BSCL2 p.Val130Ala Uncertain significance Multiple submitters
Inborn genetic diseases
BSCL2 p.Val257Leu Uncertain significance Multiple submitters
Inborn genetic diseases
BSCL2 p.Val303Ala Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
BSCL2 p.Ala437Val Uncertain significance Single submitter
severe neurodegenerative syndrome with lipodystrophy
BSCL2 p.Ala449Pro Uncertain significance Single submitter
hereditary spastic paraplegia 17
BSCL2 p.Ala449Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Arg216Cys Uncertain significance Single submitter
hereditary spastic paraplegia 17
BSCL2 p.Arg329Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Arg339Gln Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Arg341Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Arg345Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Arg350Gly Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Arg351Gly Uncertain significance Single submitter
BSCL2 p.Arg89Pro Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Arg90Trp Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Asn254Lys Uncertain significance Single submitter
Inborn genetic diseases
BSCL2 p.Asn426Asp Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Asn426Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Asp218Val Uncertain significance Single submitter
BSCL2 p.Asp250Asn Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Asp342Glu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Asp342His Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Asp370His Uncertain significance Single submitter
hereditary spastic paraplegia 17
BSCL2 p.Asp68Glu Uncertain significance Single submitter
Inborn genetic diseases
BSCL2 p.Gln335His Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Gln362Leu Uncertain significance Single submitter
BSCL2 p.Gln387His Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Glu363Asp Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Glu408Gln Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Gly167Glu Uncertain significance Single submitter
hereditary spastic paraplegia 17
BSCL2 p.Gly286Arg Uncertain significance Single submitter
hereditary spastic paraplegia 17
BSCL2 p.Gly302Asp Uncertain significance Single submitter
Inborn genetic diseases
BSCL2 p.Gly325Val Uncertain significance Single submitter
hereditary spastic paraplegia 17
BSCL2 p.Gly358Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Gly451Ala Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Gly81Asp Uncertain significance Single submitter
BSCL2 p.Ile102Asn Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Ile194Val Uncertain significance Single submitter
Inborn genetic diseases
BSCL2 p.Ile204Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Ile264Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Ile271Asn Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Ile313Met Uncertain significance Single submitter
Inborn genetic diseases
BSCL2 p.Ile352Val Uncertain significance Single submitter
neuronopathy, distal hereditary motor, type 5A
BSCL2 p.Leu112Phe Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Leu187Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Leu310Phe Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Leu315Phe Uncertain significance Single submitter
BSCL2 p.Leu405Gln Uncertain significance Single submitter
hereditary spastic paraplegia 17
BSCL2 p.Leu84Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Leu91Pro Uncertain significance Single submitter
BSCL2 p.Lys346Asn Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Met212Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Met319Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Phe294Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Phe309Ile Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Pro149Ala Uncertain significance Single submitter
BSCL2 p.Pro149Leu Uncertain significance Single submitter
BSCL2 p.Pro149Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Pro258Arg Uncertain significance Single submitter
BSCL2 p.Pro258Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Pro295Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Pro328Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Pro359Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Pro367Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Pro381Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Pro394Ala Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Pro394Thr Uncertain significance Single submitter
hereditary spastic paraplegia 17
BSCL2 p.Pro398Ala Uncertain significance Single submitter
hereditary spastic paraplegia 17
BSCL2 p.Pro398Leu Uncertain significance Single submitter
Inborn genetic diseases
BSCL2 p.Pro432Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Ser119Cys Uncertain significance Single submitter
hereditary spastic paraplegia 17
BSCL2 p.Ser147Phe Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Ser181Tyr Uncertain significance Single submitter
BSCL2 p.Ser255Leu Uncertain significance Single submitter
Inborn genetic diseases
BSCL2 p.Ser369Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Thr142Ala Uncertain significance Single submitter
neuronopathy, distal hereditary motor, type 5A
BSCL2 p.Thr143Ile Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Thr259Ile Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Thr366Ala Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Thr384Ala Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Tyr134His Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Tyr170Phe Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Tyr277Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Tyr289Cys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Val124Ile Uncertain significance Single submitter
BSCL2 p.Val130Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Val153Ile Uncertain significance Single submitter
BSCL2 p.Val172Phe Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Val245Leu Uncertain significance Single submitter
Inborn genetic diseases
BSCL2 p.Val303Ile Uncertain significance Single submitter
BSCL2 p.Val312Ala Uncertain significance Single submitter
neuronopathy, distal hereditary motor, type 5C
BSCL2 p.Val314Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Val348Asp Uncertain significance Single submitter
BSCL2 p.Val97Ala Uncertain significance Single submitter
BSCL2 p.Leu155Pro Uncertain significance No assertion criteria
Berardinelli-Seip congenital lipodystrophy
BSCL2 p.Tyr251Cys Uncertain significance No assertion criteria
Berardinelli-Seip congenital lipodystrophy

Predictors split 107

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

BSCL2 p.Ala433Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
BSCL2 p.Arg160Ser Uncertain significance Multiple submitters
neuronopathy, distal hereditary motor, type 5C
BSCL2 p.Arg171Cys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
BSCL2 p.Arg171Leu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
BSCL2 p.Arg202Gln Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
BSCL2 p.Arg270His Uncertain significance Multiple submitters
Inborn genetic diseases
BSCL2 p.Arg270Leu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
BSCL2 p.Arg279Cys Uncertain significance Multiple submitters
severe neurodegenerative syndrome with lipodystrophy
BSCL2 p.Arg279His Uncertain significance Multiple submitters
hereditary spastic paraplegia 17
BSCL2 p.Arg331Cys Uncertain significance Multiple submitters
congenital generalized lipodystrophy type 2
BSCL2 p.Arg345Trp Uncertain significance Multiple submitters
neuronopathy, distal hereditary motor, type 5C
BSCL2 p.Arg87His Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
BSCL2 p.Arg89Cys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
BSCL2 p.Asp137Asn Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
BSCL2 p.Asp374His Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
BSCL2 p.Glu390Lys Uncertain significance Multiple submitters
Inborn genetic diseases
BSCL2 p.Ile313Thr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
BSCL2 p.Leu75Pro Uncertain significance Multiple submitters
hereditary spastic paraplegia 17
BSCL2 p.Lys157Glu Uncertain significance Multiple submitters
Inborn genetic diseases
BSCL2 p.Lys269Arg Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
BSCL2 p.Phe316Leu Uncertain significance Multiple submitters
Inborn genetic diseases
BSCL2 p.Pro169Leu Uncertain significance Multiple submitters
Inborn genetic diseases
BSCL2 p.Ser140Cys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
BSCL2 p.Ser207Cys Uncertain significance Multiple submitters
Inborn genetic diseases
BSCL2 p.Ser210Leu Uncertain significance Multiple submitters
hereditary spastic paraplegia 17
BSCL2 p.Ser415Phe Uncertain significance Multiple submitters
neuronopathy, distal hereditary motor, type 5C
BSCL2 p.Ser462Tyr Uncertain significance Multiple submitters
congenital generalized lipodystrophy type 2
BSCL2 p.Thr142Ile Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
BSCL2 p.Thr366Ile Uncertain significance Multiple submitters
Inborn genetic diseases
BSCL2 p.Thr423Met Uncertain significance Multiple submitters
Inborn genetic diseases
BSCL2 p.Thr442Ile Uncertain significance Multiple submitters
severe neurodegenerative syndrome with lipodystrophy
BSCL2 p.Tyr120Phe Uncertain significance Multiple submitters
Inborn genetic diseases
BSCL2 p.Tyr166Cys Uncertain significance Multiple submitters
Inborn genetic diseases
BSCL2 p.Val110Gly Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
BSCL2 p.Val183Met Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
BSCL2 p.Val211Met Uncertain significance Multiple submitters
BSCL2 p.Val257Met Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
BSCL2 p.Val83Ile Uncertain significance Multiple submitters
Inborn genetic diseases
BSCL2 p.Val97Met Uncertain significance Multiple submitters
Inborn genetic diseases
BSCL2 p.Ala151Gly Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Ala237Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Ala431Pro Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Ala433Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Arg135Thr Conflicting Single submitter
congenital generalized lipodystrophy type 2
BSCL2 p.Arg160Gly Uncertain significance Single submitter
BSCL2 p.Arg171His Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Arg270Cys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Arg279Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Arg454Gln Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Arg454Leu Uncertain significance Single submitter
BSCL2 p.Arg456His Conflicting Single submitter
monogenic diabetes
BSCL2 p.Arg87Cys Uncertain significance Single submitter
neuronopathy, distal hereditary motor, type 5C
BSCL2 p.Arg89Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Asn293Ser Uncertain significance Single submitter
BSCL2 p.Asp374Tyr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Cys100Phe Conflicting Single submitter
Inborn genetic diseases
BSCL2 p.Cys459Tyr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Gln185His Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Glu177Gln Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Glu385Gln Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Glu390Gln Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Glu391Lys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Gly324Ala Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Gly325Cys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.His126Tyr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.His281Gln Uncertain significance Single submitter
hereditary spastic paraplegia 17
BSCL2 p.His283Asp Uncertain significance Single submitter
Inborn genetic diseases
BSCL2 p.His283Gln Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.His355Tyr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Ile301Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Leu106Phe Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Leu164Met Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Leu287Phe Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Leu290Val Uncertain significance Single submitter
Inborn genetic diseases
BSCL2 p.Leu310Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Leu84Phe Uncertain significance Single submitter
BSCL2 p.Met121Ile Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Met121Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Met296Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Phe132Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Phe316Cys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Pro169Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Pro182Thr Uncertain significance Single submitter
neuronopathy, distal hereditary motor, type 5A
BSCL2 p.Pro430Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Pro432Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Pro438Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Pro448Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Pro70Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Pro72Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Ser144Pro Uncertain significance Single submitter
BSCL2 p.Ser154Ala Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Ser268Gly Uncertain significance Single submitter
BSCL2 p.Ser344Phe Conflicting Single submitter
severe neurodegenerative syndrome with lipodystrophy
BSCL2 p.Ser344Tyr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Ser460Phe Uncertain significance Single submitter
BSCL2 p.Thr206Ile Uncertain significance Single submitter
hereditary spastic paraplegia 17
BSCL2 p.Thr260Ser Uncertain significance Single submitter
hereditary spastic paraplegia 17
BSCL2 p.Thr285Ala Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Thr458Ile Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Trp323Cys Uncertain significance Single submitter
monogenic diabetes
BSCL2 p.Trp416Cys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Tyr248Cys Uncertain significance Single submitter
Inborn genetic diseases
BSCL2 p.Tyr248His Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Val150Ile Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Val227Phe Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
BSCL2 p.Val439Ile Uncertain significance Single submitter
Inborn genetic diseases
BSCL2 p.Cys100Tyr Uncertain significance No assertion criteria
Berardinelli-Seip congenital lipodystrophy

All BSCL2 variants

Pathogenic 27

c.766-2A>G Multiple submitters congenital generalized lipodystrophy type 2
p.Ala276Pro Multiple submitters hereditary spastic paraplegia 17
p.Arg202Ter Multiple submitters neuronopathy, distal hereditary motor, type 5C
p.Arg329Ter Multiple submitters severe neurodegenerative syndrome with lipodystrophy
p.Arg339Ter Multiple submitters severe neurodegenerative syndrome with lipodystrophy
p.Asn152Ser Multiple submitters neuronopathy, distal hereditary motor, type 5C ⚠
p.Glu253Ter Multiple submitters Charcot-Marie-Tooth disease type 2
p.Leu315fs Multiple submitters congenital generalized lipodystrophy type 2
p.Thr173fs Multiple submitters hereditary spastic paraplegia 17
p.Tyr277fs Multiple submitters severe neurodegenerative syndrome with lipodystrophy
c.630+1G>T Single submitter congenital generalized lipodystrophy type 2
c.864-2A>G Single submitter congenital generalized lipodystrophy type 2
p.Asp342fs Single submitter Charcot-Marie-Tooth disease type 2
p.Asp370fs Single submitter Charcot-Marie-Tooth disease type 2
p.Gln185Ter Single submitter Charcot-Marie-Tooth disease type 2
p.Gln387Ter Single submitter Charcot-Marie-Tooth disease type 2
p.Glu376Ter Single submitter Charcot-Marie-Tooth disease type 2
p.Met165fs Single submitter congenital generalized lipodystrophy type 2
p.Phe190delinsGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerTer Single submitter Charcot-Marie-Tooth disease type 2
p.Phe190delinsGlyMetAspProSerAsnThrThrTer Single submitter Charcot-Marie-Tooth disease type 2
p.Ser109fs Single submitter congenital generalized lipodystrophy type 2
p.Thr372fs Single submitter Charcot-Marie-Tooth disease type 2
p.Trp321Ter Single submitter Charcot-Marie-Tooth disease type 2
p.Tyr197Ter Single submitter Charcot-Marie-Tooth disease type 2
c.404+1G>T No assertion criteria congenital generalized lipodystrophy type 2
p.Asn254fs No assertion criteria congenital generalized lipodystrophy type 2
p.Tyr134Ter No assertion criteria congenital generalized lipodystrophy type 2

Pathogenic/Likely pathogenic 5

c.1006-2A>G Multiple submitters congenital generalized lipodystrophy type 2
c.631-1G>C Multiple submitters severe neurodegenerative syndrome with lipodystrophy
p.Ala282fs Multiple submitters congenital generalized lipodystrophy type 2
p.Arg454fs Multiple submitters neuronopathy, distal hereditary motor, type 5C
p.Ser154Leu Multiple submitters Abnormal central motor function ⚠

Likely pathogenic 16

p.Ala276fs Multiple submitters severe neurodegenerative syndrome with lipodystrophy
c.1006-1G>A Single submitter Charcot-Marie-Tooth disease type 2
c.1006-2A>C Single submitter Charcot-Marie-Tooth disease type 2
c.1006-2A>T Single submitter Charcot-Marie-Tooth disease type 2
c.486+1G>T Single submitter congenital generalized lipodystrophy type 2
c.487-1G>A Single submitter Charcot-Marie-Tooth disease type 2
c.766-1G>A Single submitter hereditary spastic paraplegia 17
p.Arg171fs Single submitter hereditary spastic paraplegia 17
p.Arg350Ter Single submitter hereditary spastic paraplegia 17
p.Gln349Ter Single submitter severe neurodegenerative syndrome with lipodystrophy
p.Gln94Ter Single submitter neuronopathy, distal hereditary motor, type 5C
p.Gly325fs Single submitter severe neurodegenerative syndrome with lipodystrophy
p.Pro149Arg Single submitter developmental and epileptic encephalopathy
p.Pro359_Glu360insTer Single submitter severe neurodegenerative syndrome with lipodystrophy
c.1235-2A>C No assertion criteria congenital generalized lipodystrophy type 2
p.Arg288fs No assertion criteria congenital generalized lipodystrophy type 2

Conflicting classifications of pathogenicity 50

c.1005+4G>T Single submitter Inborn genetic diseases
c.1006-8C>T Single submitter Charcot-Marie-Tooth disease type 2
c.1234+14T>G Single submitter Charcot-Marie-Tooth disease type 2
c.1234+7G>A Single submitter Charcot-Marie-Tooth disease type 2
c.405-11A>G Single submitter Charcot-Marie-Tooth disease type 2
c.487-14G>A Single submitter Charcot-Marie-Tooth disease type 2
c.487-9C>T Single submitter Charcot-Marie-Tooth disease type 2
c.631-6C>G Single submitter Inborn genetic diseases
c.864-6C>T Single submitter Inborn genetic diseases
c.88-662C>A Single submitter hereditary spastic paraplegia
c.88-663G>A Single submitter hereditary spastic paraplegia
c.88-674G>T Single submitter neuronopathy, distal hereditary motor, type 5A
p.434SA[1] Single submitter monogenic diabetes
p.Ala282Val Single submitter monogenic diabetes ⚠
p.Arg135Thr Single submitter congenital generalized lipodystrophy type 2 ⚠
p.Arg270= Single submitter Inborn genetic diseases
p.Arg288= Single submitter hereditary spastic paraplegia 17
p.Arg331His Single submitter Inborn genetic diseases ⚠
p.Arg42Cys Single submitter congenital generalized lipodystrophy type 2
p.Arg454Ter Single submitter severe neurodegenerative syndrome with lipodystrophy
p.Arg456His Single submitter monogenic diabetes ⚠
p.Cys100Phe Single submitter Inborn genetic diseases ⚠
p.Cys18Ter Single submitter congenital generalized lipodystrophy type 2
p.Cys196= Single submitter Charcot-Marie-Tooth disease type 2
p.Cys298= Single submitter hereditary spastic paraplegia 17
p.Gln368Lys Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Glu404del Single submitter monogenic diabetes
p.Gly13= Single submitter
p.Gly275Arg Single submitter Inborn genetic diseases ⚠
p.Leu287= Single submitter Charcot-Marie-Tooth disease type 2
p.Leu427Pro Single submitter congenital generalized lipodystrophy type 2 ⚠
p.Pro367= Single submitter severe neurodegenerative syndrome with lipodystrophy
p.Pro430Ser Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ser140= Single submitter Inborn genetic diseases
p.Ser154Ala Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ser205= Single submitter Inborn genetic diseases
p.Ser255= Single submitter Charcot-Marie-Tooth disease type 2
p.Ser344Phe Single submitter severe neurodegenerative syndrome with lipodystrophy ⚠
p.Ser382Leu Single submitter hereditary spastic paraplegia ⚠
p.Ser400= Single submitter Charcot-Marie-Tooth disease type 2
p.Thr156Ala Single submitter Inborn genetic diseases ⚠
p.Trp323Ter Single submitter congenital generalized lipodystrophy type 2
p.Val150Ile Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Val312Ile Single submitter Charcot-Marie-Tooth disease type 2 ⚠
c.630+1G>A No assertion criteria Berardinelli-Seip congenital lipodystrophy
c.864-3C>G No assertion criteria Berardinelli-Seip congenital lipodystrophy
p.Glu180Ter No assertion criteria Berardinelli-Seip congenital lipodystrophy
p.Pro129fs No assertion criteria Berardinelli-Seip congenital lipodystrophy
p.Ser128fs No assertion criteria Berardinelli-Seip congenital lipodystrophy
p.Tyr170fs No assertion criteria Berardinelli-Seip congenital lipodystrophy

Benign 16

c.1153+26C>T Multiple submitters
c.486+11G>T Multiple submitters severe neurodegenerative syndrome with lipodystrophy
c.487-129G>T Multiple submitters
c.765+15C>T Multiple submitters Charcot-Marie-Tooth disease type 2
c.765+69A>G Multiple submitters neuronopathy, distal hereditary motor, type 5C
c.766-49T>C Multiple submitters severe neurodegenerative syndrome with lipodystrophy
c.88-459G>A Multiple submitters
c.-129-457C>G Multiple submitters
c.-129-653G>A Multiple submitters
c.-172T>C Multiple submitters
p.Asp20Glu Multiple submitters monogenic diabetes
p.Glu379= Multiple submitters neuronopathy, distal hereditary motor, type 5C
c.404+207dup Single submitter
c.404+225del Single submitter
c.487-255C>T Single submitter
c.87+64_87+66del Single submitter

Benign/Likely benign 8

c.1006-50T>G Multiple submitters
c.1234+20G>A Multiple submitters neuronopathy, distal hereditary motor, type 5C
c.487-20A>T Multiple submitters congenital generalized lipodystrophy type 2
c.765+16G>A Multiple submitters Charcot-Marie-Tooth disease type 2
c.88-613G>A Multiple submitters neuronopathy, distal hereditary motor, type 5A
c.88-673T>C Multiple submitters
p.Gly45Ser Multiple submitters congenital generalized lipodystrophy type 2
p.Ile313= Multiple submitters Inborn genetic diseases

Likely benign 162

c.1234+19C>T Multiple submitters Charcot-Marie-Tooth disease type 2
c.1235-6G>A Multiple submitters hereditary spastic paraplegia 17
c.404+15C>G Multiple submitters Charcot-Marie-Tooth disease type 2
c.404+207A>T Multiple submitters
c.405-19C>G Multiple submitters Charcot-Marie-Tooth disease type 2
c.405-21TCC[2] Multiple submitters congenital generalized lipodystrophy type 2
c.486+123G>A Multiple submitters
c.486+182C>T Multiple submitters
c.486+8T>G Multiple submitters Charcot-Marie-Tooth disease type 2
c.487-34A>T Multiple submitters
c.630+64G>T Multiple submitters
c.766-79G>T Multiple submitters
c.88-19C>T Multiple submitters congenital generalized lipodystrophy type 2
c.-129-396C>T Multiple submitters
c.-88C>T Multiple submitters
p.Arg339= Multiple submitters Inborn genetic diseases
p.Gln272= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Leu290= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Pro295= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Pro328= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ser207= Multiple submitters Inborn genetic diseases
p.Ser208= Multiple submitters neuronopathy, distal hereditary motor, type 5C
p.Ser311= Multiple submitters congenital generalized lipodystrophy type 2
p.Thr136= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Thr423= Multiple submitters congenital generalized lipodystrophy type 2
p.Tyr248= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Val83= Multiple submitters Inborn genetic diseases
c.1005+11_1005+16del Single submitter Charcot-Marie-Tooth disease type 2
c.1005+14A>G Single submitter Charcot-Marie-Tooth disease type 2
c.1005+15G>T Single submitter Charcot-Marie-Tooth disease type 2
c.1005+16G>A Single submitter Charcot-Marie-Tooth disease type 2
c.1005+18C>A Single submitter Charcot-Marie-Tooth disease type 2
c.1005+19C>T Single submitter Charcot-Marie-Tooth disease type 2
c.1005+8G>T Single submitter Charcot-Marie-Tooth disease type 2
c.1006-20C>T Single submitter Charcot-Marie-Tooth disease type 2
c.1006-4A>C Single submitter Charcot-Marie-Tooth disease type 2
c.1072+16G>C Single submitter Charcot-Marie-Tooth disease type 2
c.1072+7dup Single submitter Charcot-Marie-Tooth disease type 2
c.1073-14C>T Single submitter Charcot-Marie-Tooth disease type 2
c.1073-16C>G Single submitter Charcot-Marie-Tooth disease type 2
c.1073-16del Single submitter Charcot-Marie-Tooth disease type 2
c.1073-8A>T Single submitter Charcot-Marie-Tooth disease type 2
c.1153+12C>T Single submitter Charcot-Marie-Tooth disease type 2
c.1153+16C>T Single submitter Charcot-Marie-Tooth disease type 2
c.1153+7C>T Single submitter Charcot-Marie-Tooth disease type 2
c.1153+8G>A Single submitter Charcot-Marie-Tooth disease type 2
c.1154-13C>T Single submitter Charcot-Marie-Tooth disease type 2
c.1154-14C>A Single submitter Charcot-Marie-Tooth disease type 2
c.1154-20C>T Single submitter Charcot-Marie-Tooth disease type 2
c.1234+11T>A Single submitter Charcot-Marie-Tooth disease type 2
c.1235-17T>C Single submitter Charcot-Marie-Tooth disease type 2
c.1235-4C>T Single submitter Charcot-Marie-Tooth disease type 2
c.404+10G>A Single submitter Charcot-Marie-Tooth disease type 2
c.404+11C>A Single submitter Charcot-Marie-Tooth disease type 2
c.404+11C>G Single submitter Charcot-Marie-Tooth disease type 2
c.404+11C>T Single submitter Charcot-Marie-Tooth disease type 2
c.404+14_404+16del Single submitter Charcot-Marie-Tooth disease type 2
c.404+16T>C Single submitter Charcot-Marie-Tooth disease type 2
c.404+17A>G Single submitter Charcot-Marie-Tooth disease type 2
c.405-16del Single submitter Charcot-Marie-Tooth disease type 2
c.405-205_405-202del Single submitter
c.405-20C>T Single submitter Charcot-Marie-Tooth disease type 2
c.405-7C>T Single submitter Charcot-Marie-Tooth disease type 2
c.486+7A>G Single submitter Charcot-Marie-Tooth disease type 2
c.487-19T>C Single submitter Charcot-Marie-Tooth disease type 2
c.487-4G>A Single submitter Charcot-Marie-Tooth disease type 2
c.630+11G>T Single submitter
c.630+12_630+14del Single submitter Charcot-Marie-Tooth disease type 2
c.630+14G>A Single submitter Charcot-Marie-Tooth disease type 2
c.630+15C>G Single submitter Charcot-Marie-Tooth disease type 2
c.631-13C>T Single submitter Charcot-Marie-Tooth disease type 2
c.631-14C>T Single submitter Charcot-Marie-Tooth disease type 2
c.631-7C>A Single submitter Charcot-Marie-Tooth disease type 2
c.631-9C>G Single submitter Charcot-Marie-Tooth disease type 2
c.631-9C>T Single submitter Charcot-Marie-Tooth disease type 2
c.765+7G>C Single submitter Charcot-Marie-Tooth disease type 2
c.766-10C>G Single submitter Charcot-Marie-Tooth disease type 2
c.863+10del Single submitter Charcot-Marie-Tooth disease type 2
c.863+14T>C Single submitter Charcot-Marie-Tooth disease type 2
c.864-30del Single submitter
c.864-8T>C Single submitter Charcot-Marie-Tooth disease type 2
c.88-142C>G Single submitter
c.88-444G>C Single submitter
c.88-634G>C Single submitter congenital generalized lipodystrophy type 2
c.-129-861C>T Single submitter
c.-1574T>G Single submitter
p.Ala249= Single submitter Charcot-Marie-Tooth disease type 2
p.Ala262= Single submitter Charcot-Marie-Tooth disease type 2
p.Ala299= Single submitter Charcot-Marie-Tooth disease type 2
p.Ala437= Single submitter Charcot-Marie-Tooth disease type 2
p.Ala73= Single submitter Charcot-Marie-Tooth disease type 2
p.Ala88= Single submitter Charcot-Marie-Tooth disease type 2
p.Arg160= Single submitter Charcot-Marie-Tooth disease type 2
p.Arg279= Single submitter Charcot-Marie-Tooth disease type 2
p.Arg351= Single submitter Charcot-Marie-Tooth disease type 2
p.Arg456= Single submitter Charcot-Marie-Tooth disease type 2
p.Arg90= Single submitter Charcot-Marie-Tooth disease type 2
p.Asn152= Single submitter Charcot-Marie-Tooth disease type 2
p.Asp218= Single submitter Charcot-Marie-Tooth disease type 2
p.Asp370= Single submitter Charcot-Marie-Tooth disease type 2
p.Gln320= Single submitter Charcot-Marie-Tooth disease type 2
p.Gln368= Single submitter Inborn genetic diseases
p.Gln78= Single submitter Charcot-Marie-Tooth disease type 2
p.Glu253= Single submitter Charcot-Marie-Tooth disease type 2
p.Glu417= Single submitter Charcot-Marie-Tooth disease type 2
p.Glu447= Single submitter Charcot-Marie-Tooth disease type 2
p.Gly167= Single submitter Charcot-Marie-Tooth disease type 2
p.Gly19Arg Single submitter
p.Gly261= Single submitter
p.Gly302= Single submitter Charcot-Marie-Tooth disease type 2
p.Gly361= Single submitter Charcot-Marie-Tooth disease type 2
p.Gly414= Single submitter Charcot-Marie-Tooth disease type 2
p.Gly44Arg Single submitter
p.His281= Single submitter Charcot-Marie-Tooth disease type 2
p.His283= Single submitter Charcot-Marie-Tooth disease type 2
p.Ile204= Single submitter Charcot-Marie-Tooth disease type 2
p.Ile264= Single submitter Charcot-Marie-Tooth disease type 2
p.Ile271= Single submitter Charcot-Marie-Tooth disease type 2
p.Ile338= Single submitter Charcot-Marie-Tooth disease type 2
p.Leu176= Single submitter Charcot-Marie-Tooth disease type 2
p.Leu187= Single submitter Charcot-Marie-Tooth disease type 2
p.Leu191= Single submitter Charcot-Marie-Tooth disease type 2
p.Leu273= Single submitter Charcot-Marie-Tooth disease type 2
p.Leu291= Single submitter Charcot-Marie-Tooth disease type 2
p.Leu427= Single submitter Charcot-Marie-Tooth disease type 2
p.Leu440= Single submitter Charcot-Marie-Tooth disease type 2
p.Leu453= Single submitter Charcot-Marie-Tooth disease type 2
p.Leu91= Single submitter Charcot-Marie-Tooth disease type 2
p.Leu92= Single submitter Charcot-Marie-Tooth disease type 2
p.Leu98= Single submitter Charcot-Marie-Tooth disease type 2
p.Phe111= Single submitter Charcot-Marie-Tooth disease type 2
p.Phe116= Single submitter Charcot-Marie-Tooth disease type 2
p.Phe228= Single submitter Charcot-Marie-Tooth disease type 2
p.Phe309= Single submitter Charcot-Marie-Tooth disease type 2
p.Phe99= Single submitter Charcot-Marie-Tooth disease type 2
p.Pro122= Single submitter Charcot-Marie-Tooth disease type 2
p.Pro169= Single submitter Charcot-Marie-Tooth disease type 2
p.Pro182= Single submitter Charcot-Marie-Tooth disease type 2
p.Pro258= Single submitter Charcot-Marie-Tooth disease type 2
p.Pro381= Single submitter Charcot-Marie-Tooth disease type 2
p.Pro432= Single submitter
p.Pro438= Single submitter Charcot-Marie-Tooth disease type 2
p.Pro457= Single submitter Charcot-Marie-Tooth disease type 2
p.Ser119= Single submitter Charcot-Marie-Tooth disease type 2
p.Ser141= Single submitter Charcot-Marie-Tooth disease type 2
p.Ser147= Single submitter Charcot-Marie-Tooth disease type 2
p.Ser154= Single submitter Charcot-Marie-Tooth disease type 2
p.Ser195= Single submitter Charcot-Marie-Tooth disease type 2
p.Ser410= Single submitter Charcot-Marie-Tooth disease type 2
p.Ser413= Single submitter Charcot-Marie-Tooth disease type 2
p.Thr173= Single submitter
p.Thr206= Single submitter Charcot-Marie-Tooth disease type 2
p.Thr225= Single submitter Charcot-Marie-Tooth disease type 2
p.Thr458= Single submitter Charcot-Marie-Tooth disease type 2
p.Tyr117= Single submitter
p.Tyr118= Single submitter Charcot-Marie-Tooth disease type 2
p.Tyr215= Single submitter Charcot-Marie-Tooth disease type 2
p.Tyr256= Single submitter Charcot-Marie-Tooth disease type 2
p.Val183= Single submitter Charcot-Marie-Tooth disease type 2
p.Val211= Single submitter Charcot-Marie-Tooth disease type 2
p.Val303= Single submitter Charcot-Marie-Tooth disease type 2
p.Val439= Single submitter Inborn genetic diseases

Uncertain significance 292

c.1005+3C>T Multiple submitters Inborn genetic diseases
c.1234+6G>A Multiple submitters neuronopathy, distal hereditary motor, type 5C
c.631-6C>A Multiple submitters Charcot-Marie-Tooth disease type 2
c.863+5G>A Multiple submitters hereditary spastic paraplegia 17
p.428PA[4] Multiple submitters Charcot-Marie-Tooth disease type 2
p.434SA[3] Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ala249Ser Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ala282Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala433Val Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ala452Ser Multiple submitters Inborn genetic diseases ⚠
p.Arg160Cys Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg160Ser Multiple submitters neuronopathy, distal hereditary motor, type 5C ⚠
p.Arg162Gln Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg171Cys Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg171Leu Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg202Gln Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg270His Multiple submitters Inborn genetic diseases ⚠
p.Arg270Leu Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg279Cys Multiple submitters severe neurodegenerative syndrome with lipodystrophy ⚠
p.Arg279His Multiple submitters hereditary spastic paraplegia 17 ⚠
p.Arg329Gln Multiple submitters congenital generalized lipodystrophy type 2 ⚠
p.Arg331Cys Multiple submitters congenital generalized lipodystrophy type 2 ⚠
p.Arg345Gln Multiple submitters severe neurodegenerative syndrome with lipodystrophy ⚠
p.Arg345Trp Multiple submitters neuronopathy, distal hereditary motor, type 5C ⚠
p.Arg350Gln Multiple submitters neuronopathy, distal hereditary motor, type 5C ⚠
p.Arg87His Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg89Cys Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Asn67His Multiple submitters congenital generalized lipodystrophy type 2 ⚠
p.Asp137Asn Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Asp342Ala Multiple submitters Inborn genetic diseases ⚠
p.Asp374His Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Cys459Ser Multiple submitters Inborn genetic diseases ⚠
p.Gln21Leu Multiple submitters congenital generalized lipodystrophy type 2
p.Gln387Arg Multiple submitters neuronopathy, distal hereditary motor, type 5C ⚠
p.Glu390Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu392del Multiple submitters neuronopathy, distal hereditary motor, type 5C
p.Glu424Gln Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Gly261Glu Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Gly358Glu Multiple submitters Inborn genetic diseases ⚠
p.Gly383Arg Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Gly444Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly86Asp Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ile313Thr Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Leu104His Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Leu422Val Multiple submitters congenital generalized lipodystrophy type 2 ⚠
p.Leu75Pro Multiple submitters hereditary spastic paraplegia 17 ⚠
p.Lys157Glu Multiple submitters Inborn genetic diseases ⚠
p.Lys269Arg Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Lys393Asn Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Met222Ile Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Met65Ile Multiple submitters Charcot-Marie-Tooth disease type 2
p.Phe148Ser Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Phe228del Multiple submitters Charcot-Marie-Tooth disease type 2
p.Phe307Leu Multiple submitters hereditary spastic paraplegia 17 ⚠
p.Phe316Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro169Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro258Leu Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Pro357= Multiple submitters Inborn genetic diseases
p.Pro357Ser Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Pro398Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro407Leu Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Pro428Ser Multiple submitters hereditary spastic paraplegia ⚠
p.Pro457Ser Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Pro69Leu Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Pro69Ser Multiple submitters young-onset Parkinson disease ⚠
p.Pro72Ala Multiple submitters neuronopathy, distal hereditary motor, type 5C ⚠
p.Ser115Phe Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ser140Cys Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ser141Phe Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ser207Cys Multiple submitters Inborn genetic diseases ⚠
p.Ser210Leu Multiple submitters hereditary spastic paraplegia 17 ⚠
p.Ser382Pro Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ser415Phe Multiple submitters neuronopathy, distal hereditary motor, type 5C ⚠
p.Ser434Ala Multiple submitters neuronopathy, distal hereditary motor, type 5C ⚠
p.Ser434Pro Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ser462Tyr Multiple submitters congenital generalized lipodystrophy type 2 ⚠
p.Thr142Ile Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Thr308Ile Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Thr366Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr423Met Multiple submitters Inborn genetic diseases ⚠
p.Thr442Ile Multiple submitters severe neurodegenerative syndrome with lipodystrophy ⚠
p.Trp323Ser Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Tyr113Cys Multiple submitters Inborn genetic diseases ⚠
p.Tyr117Cys Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Tyr120Phe Multiple submitters Inborn genetic diseases ⚠
p.Tyr166Cys Multiple submitters Inborn genetic diseases ⚠
p.Tyr277His Multiple submitters neuronopathy, distal hereditary motor, type 5C ⚠
p.Val110Gly Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Val130Ala Multiple submitters Inborn genetic diseases ⚠
p.Val183Met Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Val211Met Multiple submitters ⚠
p.Val257Leu Multiple submitters Inborn genetic diseases ⚠
p.Val257Met Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Val303Ala Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Val83Ile Multiple submitters Inborn genetic diseases ⚠
p.Val97Met Multiple submitters Inborn genetic diseases ⚠
c.1005+3C>G Single submitter Charcot-Marie-Tooth disease type 2
c.1072+3A>G Single submitter Charcot-Marie-Tooth disease type 2
c.1153+1G>T Single submitter congenital generalized lipodystrophy type 2
c.1234+4A>C Single submitter
c.1235-2_1235-1insCCAA Single submitter Charcot-Marie-Tooth disease type 2
c.486+3G>C Single submitter Charcot-Marie-Tooth disease type 2
c.630+4A>G Single submitter Charcot-Marie-Tooth disease type 2
c.630+5G>T Single submitter Charcot-Marie-Tooth disease type 2
c.631-5G>A Single submitter Charcot-Marie-Tooth disease type 2
c.631-8C>T Single submitter hereditary spastic paraplegia
c.864-16C>G Single submitter Charcot-Marie-Tooth disease type 2
c.88-620A>C Single submitter congenital generalized lipodystrophy type 2
c.*49T>G Single submitter congenital generalized lipodystrophy type 2
c.*58G>A Single submitter congenital generalized lipodystrophy type 2
p.Ala151Gly Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ala237= Single submitter Charcot-Marie-Tooth disease type 2
p.Ala237Val Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ala35Ser Single submitter
p.Ala431Pro Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ala433Thr Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ala437Val Single submitter severe neurodegenerative syndrome with lipodystrophy ⚠
p.Ala449Pro Single submitter hereditary spastic paraplegia 17 ⚠
p.Ala449Thr Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Arg160Gly Single submitter ⚠
p.Arg171His Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Arg216Cys Single submitter hereditary spastic paraplegia 17 ⚠
p.Arg270Cys Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Arg279Leu Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Arg329Leu Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Arg339Gln Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Arg341Thr Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Arg345Leu Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Arg350Gly Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Arg351Gly Single submitter ⚠
p.Arg454Gln Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Arg454Leu Single submitter ⚠
p.Arg87Cys Single submitter neuronopathy, distal hereditary motor, type 5C ⚠
p.Arg89Leu Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Arg89Pro Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Arg90Ser Single submitter hereditary spastic paraplegia 17
p.Arg90Trp Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Asn254Lys Single submitter Inborn genetic diseases ⚠
p.Asn293Ser Single submitter ⚠
p.Asn426Asp Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Asn426Ser Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Asp218Val Single submitter ⚠
p.Asp250Asn Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Asp342Glu Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Asp342His Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Asp370His Single submitter hereditary spastic paraplegia 17 ⚠
p.Asp374Tyr Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Asp411= Single submitter Charcot-Marie-Tooth disease type 2
p.Asp68Glu Single submitter Inborn genetic diseases ⚠
p.Cys459Tyr Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Gln185His Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Gln335His Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Gln362Leu Single submitter ⚠
p.Gln387His Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Glu177Gln Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Glu29Gly Single submitter
p.Glu363Asp Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Glu364del Single submitter Charcot-Marie-Tooth disease type 2
p.Glu364Ser Single submitter Charcot-Marie-Tooth disease type 2
p.Glu373fs Single submitter
p.Glu385Gln Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Glu390Gln Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Glu391Lys Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Glu408Gln Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Glu424fs Single submitter hereditary spastic paraplegia 17
p.Gly167Glu Single submitter hereditary spastic paraplegia 17 ⚠
p.Gly286Arg Single submitter hereditary spastic paraplegia 17 ⚠
p.Gly302Asp Single submitter Inborn genetic diseases ⚠
p.Gly324Ala Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Gly325Cys Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Gly325Val Single submitter hereditary spastic paraplegia 17 ⚠
p.Gly358Arg Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Gly44= Single submitter
p.Gly44Asp Single submitter congenital generalized lipodystrophy type 2
p.Gly451Ala Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Gly81Asp Single submitter ⚠
p.His126Tyr Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.His281Gln Single submitter hereditary spastic paraplegia 17 ⚠
p.His283Asp Single submitter Inborn genetic diseases ⚠
p.His283Gln Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.His355Tyr Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ile102Asn Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ile194Val Single submitter Inborn genetic diseases ⚠
p.Ile204Val Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ile264del Single submitter Charcot-Marie-Tooth disease type 2
p.Ile264Val Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ile271Asn Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ile301Thr Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ile313Met Single submitter Inborn genetic diseases ⚠
p.Ile352Val Single submitter neuronopathy, distal hereditary motor, type 5A ⚠
p.Leu106Phe Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Leu112Phe Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Leu164Met Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Leu187Val Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Leu287Phe Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Leu290Val Single submitter Inborn genetic diseases ⚠
p.Leu310Phe Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Leu310Val Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Leu315Phe Single submitter ⚠
p.Leu405Gln Single submitter hereditary spastic paraplegia 17 ⚠
p.Leu62Phe Single submitter congenital generalized lipodystrophy type 2
p.Leu84Phe Single submitter ⚠
p.Leu84Val Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Leu91Pro Single submitter ⚠
p.Lys346Asn Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Met121Ile Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Met121Val Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Met1Leu Single submitter hereditary spastic paraplegia 17
p.Met212Thr Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Met296Thr Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Met319Val Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Met65Val Single submitter Charcot-Marie-Tooth disease type 2
p.Phe132Leu Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Phe294Leu Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Phe309Ile Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Phe316Cys Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Pro149Ala Single submitter ⚠
p.Pro149Leu Single submitter ⚠
p.Pro149Thr Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Pro169Ser Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Pro182Thr Single submitter neuronopathy, distal hereditary motor, type 5A ⚠
p.Pro258Arg Single submitter ⚠
p.Pro258Ser Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Pro25Leu Single submitter
p.Pro295Thr Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Pro328Leu Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Pro359Ser Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Pro367Ser Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Pro381Thr Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Pro394Ala Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Pro394Thr Single submitter hereditary spastic paraplegia 17 ⚠
p.Pro398Ala Single submitter hereditary spastic paraplegia 17 ⚠
p.Pro398Leu Single submitter Inborn genetic diseases ⚠
p.Pro430Thr Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Pro432Leu Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Pro432Ser Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Pro438Leu Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Pro448Leu Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Pro60Ser Single submitter
p.Pro63Ser Single submitter
p.Pro70Leu Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Pro72Thr Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ser119Cys Single submitter hereditary spastic paraplegia 17 ⚠
p.Ser144Pro Single submitter ⚠
p.Ser147Phe Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ser181Tyr Single submitter ⚠
p.Ser208del Single submitter
p.Ser210= Single submitter Charcot-Marie-Tooth disease type 2
p.Ser255Leu Single submitter Inborn genetic diseases ⚠
p.Ser268Gly Single submitter ⚠
p.Ser344Tyr Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ser369Leu Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ser445_Glu447delinsArgPheArg Single submitter Charcot-Marie-Tooth disease type 2
p.Ser460Phe Single submitter ⚠
p.Thr142Ala Single submitter neuronopathy, distal hereditary motor, type 5A ⚠
p.Thr143Ile Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Thr206Ile Single submitter hereditary spastic paraplegia 17 ⚠
p.Thr259Ile Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Thr260Ser Single submitter hereditary spastic paraplegia 17 ⚠
p.Thr285Ala Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Thr366Ala Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Thr384= Single submitter Charcot-Marie-Tooth disease type 2
p.Thr384Ala Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Thr458Ile Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Trp323Cys Single submitter monogenic diabetes ⚠
p.Trp416Cys Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Tyr134His Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Tyr170Phe Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Tyr248Cys Single submitter Inborn genetic diseases ⚠
p.Tyr248His Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Tyr277Ser Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Tyr289Cys Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Val124Ile Single submitter ⚠
p.Val130Leu Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Val153Ile Single submitter ⚠
p.Val172Phe Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Val227Phe Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Val245Leu Single submitter Inborn genetic diseases ⚠
p.Val303Ile Single submitter ⚠
p.Val312Ala Single submitter neuronopathy, distal hereditary motor, type 5C ⚠
p.Val314Leu Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Val348Asp Single submitter ⚠
p.Val439Ile Single submitter Inborn genetic diseases ⚠
p.Val97Ala Single submitter ⚠
c.631-2A>C No assertion criteria Berardinelli-Seip congenital lipodystrophy
p.Cys100Tyr No assertion criteria Berardinelli-Seip congenital lipodystrophy ⚠
p.Glu177Ter No assertion criteria Berardinelli-Seip congenital lipodystrophy
p.Leu155Pro No assertion criteria Berardinelli-Seip congenital lipodystrophy ⚠
p.Tyr117fs No assertion criteria Berardinelli-Seip congenital lipodystrophy
p.Tyr120fs No assertion criteria Berardinelli-Seip congenital lipodystrophy
p.Tyr251Cys No assertion criteria Berardinelli-Seip congenital lipodystrophy ⚠
p.Tyr292Ter No assertion criteria Berardinelli-Seip congenital lipodystrophy