INF2 — 1761 ClinVar variants

All ClinVar germline INF2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 676 flagged for review →

16 Pathogenic · 13 Pathogenic/Likely pathogenic · 33 Likely pathogenic · 177 Conflicting · 111 Benign · 82 Benign/Likely benign · 664 Likely benign · 665 Uncertain significance

Full INF2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 676

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors agree, ClinVar conflicts 116

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

INF2 p.Ala1020Val Conflicting Single submitter
Inborn genetic diseases
INF2 p.Ala1052Thr Conflicting Single submitter
kidney disorder
INF2 p.Ala1165Val Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Ala213Val Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Ala356Val Conflicting Single submitter
Inborn genetic diseases
INF2 p.Ala400Thr Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Ala435Val Conflicting Single submitter
Inborn genetic diseases
INF2 p.Ala592Thr Conflicting Single submitter
Inborn genetic diseases
INF2 p.Ala656Thr Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Ala696Val Conflicting Single submitter
Inborn genetic diseases
INF2 p.Ala727Val Conflicting Single submitter
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Ala729Thr Conflicting Single submitter
Inborn genetic diseases
INF2 p.Ala901Thr Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Ala934Val Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Ala935Val Conflicting Single submitter
Inborn genetic diseases
INF2 p.Ala945Val Conflicting Single submitter
Inborn genetic diseases
INF2 p.Arg1028Cys Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Arg1045Trp Conflicting Single submitter
Inborn genetic diseases
INF2 p.Arg1070Gln Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Arg1075His Conflicting Single submitter
Inborn genetic diseases
INF2 p.Arg1213Trp Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Arg1225Cys Conflicting Single submitter
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Arg1225Gly Conflicting Single submitter
Inborn genetic diseases
INF2 p.Arg1225His Conflicting Single submitter
Inborn genetic diseases
INF2 p.Arg261Gln Conflicting Single submitter
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Arg306Cys Conflicting Single submitter
Inborn genetic diseases
INF2 p.Arg306His Conflicting Single submitter
Inborn genetic diseases
INF2 p.Arg578His Conflicting Single submitter
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Arg604Gln Conflicting Single submitter
Inborn genetic diseases
INF2 p.Arg622Gly Conflicting Single submitter
Inborn genetic diseases
INF2 p.Arg622Pro Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Arg660Gln Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Arg695Gln Conflicting Single submitter
Inborn genetic diseases
INF2 p.Arg717Gln Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Arg735Gln Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Arg797His Conflicting Single submitter
Inborn genetic diseases
INF2 p.Arg820Gln Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Arg891Gln Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Arg930Gln Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Arg953Gln Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Arg9Leu Conflicting Single submitter
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Asn1018Ser Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Asn1119Thr Conflicting Single submitter
Inborn genetic diseases
INF2 p.Asn202Ser Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Asp1081Tyr Conflicting Single submitter
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Asp1084Asn Conflicting Single submitter
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Asp1154Val Conflicting Single submitter
Inborn genetic diseases
INF2 p.Asp1173Glu Conflicting Single submitter
Inborn genetic diseases
INF2 p.Asp1190Asn Conflicting Single submitter
Inborn genetic diseases
INF2 p.Asp1200Asn Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Asp133Asn Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Asp267Asn Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Asp814Asn Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Asp997Asn Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Cys104Arg Conflicting Single submitter
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Gln122Arg Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Gln366Arg Conflicting Single submitter
Inborn genetic diseases
INF2 p.Glu1174Lys Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Glu1195Lys Conflicting Single submitter
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Glu156Lys Conflicting Single submitter
Inborn genetic diseases
INF2 p.Glu250Asp Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Glu395Lys Conflicting Single submitter
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Glu403Gly Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Glu948Ala Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Gly1021Arg Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Gly1035Ser Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Gly1056Ser Conflicting Single submitter
INF2-related disorder
INF2 p.Gly1125Arg Conflicting Single submitter
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Gly1170Glu Conflicting Single submitter
INF2-related disorder
INF2 p.Gly830Val Conflicting Single submitter
Inborn genetic diseases
INF2 p.Gly957Arg Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Gly998Arg Conflicting Single submitter
Inborn genetic diseases
INF2 p.His280Arg Conflicting Single submitter
Inborn genetic diseases
INF2 p.Ile685Val Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Ile873Val Conflicting Single submitter
INF2-related disorder
INF2 p.Leu1086Gln Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Leu1086Pro Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Leu1245Pro Conflicting Single submitter
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Leu245Val Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Leu429Pro Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Leu74Arg Conflicting Single submitter
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Leu81Pro Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Lys1241Arg Conflicting Single submitter
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Lys380Arg Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Lys962Thr Conflicting Single submitter
INF2-related disorder
INF2 p.Met1005Val Conflicting Single submitter
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Met469Val Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Pro1235Ser Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Pro422Ser Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Pro437Leu Conflicting Single submitter
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Pro439Leu Conflicting Single submitter
Inborn genetic diseases
INF2 p.Pro528Ala Conflicting Single submitter
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Pro959Ala Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Pro964Arg Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Ser1204Leu Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Ser120Asn Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Ser263Ala Conflicting Single submitter
Inborn genetic diseases
INF2 p.Ser483Phe Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Thr1011Arg Conflicting Single submitter
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Thr1027Met Conflicting Single submitter
Inborn genetic diseases
INF2 p.Thr1179Ala Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Thr170Met Conflicting Single submitter
Inborn genetic diseases
INF2 p.Thr996Ile Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Tyr193Cys Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Val1053Met Conflicting Single submitter
Inborn genetic diseases
INF2 p.Val1140Ile Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Val137Met Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Val194Met Conflicting Single submitter
Inborn genetic diseases
INF2 p.Val229Ile Conflicting Single submitter
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Val383Met Conflicting Single submitter
Inborn genetic diseases
INF2 p.Val397Met Conflicting Single submitter
Inborn genetic diseases
INF2 p.Val530Met Conflicting Single submitter
Inborn genetic diseases
INF2 p.Val539Met Conflicting Single submitter
Inborn genetic diseases
INF2 p.Val669Met Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Val730Met Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Val858Met Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 404

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 404

INF2 p.Ala1003Thr Uncertain significance Multiple submitters
Inborn genetic diseases
INF2 p.Ala1041Gly Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 5
INF2 p.Ala247Pro Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 5
INF2 p.Ala7Val Uncertain significance Multiple submitters
Inborn genetic diseases
INF2 p.Ala975Ser Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 5
INF2 p.Arg1028His Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 5
INF2 p.Arg1075Cys Uncertain significance Multiple submitters
Inborn genetic diseases
INF2 p.Arg1209Gly Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 5
INF2 p.Arg212Cys Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 5
INF2 p.Arg340Gln Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 5
INF2 p.Arg347Gln Uncertain significance Multiple submitters
Inborn genetic diseases
INF2 p.Arg953Pro Uncertain significance Multiple submitters
Inborn genetic diseases
INF2 p.Asp1022Glu Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 5
INF2 p.Asp1238Glu Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 5
INF2 p.Asp189Asn Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Asp255Gly Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Asp398Gly Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 5
INF2 p.Asp634Asn Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Asp94Val Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 5
INF2 p.Asp956Glu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Cys332Gly Uncertain significance Multiple submitters
Inborn genetic diseases
INF2 p.Cys524Ser Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 5
INF2 p.Gln122Glu Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 5
INF2 p.Gln244Leu Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 5
INF2 p.Gln903His Uncertain significance Multiple submitters
INF2-related disorder
INF2 p.Glu1098Asp Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 5
INF2 p.Glu1195Gln Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 5
INF2 p.Glu395Gln Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 5
INF2 p.Glu436Asp Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Glu436Lys Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 5
INF2 p.Glu593Lys Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 5
INF2 p.Glu654Asp Uncertain significance Multiple submitters
Inborn genetic diseases
INF2 p.Glu684Gln Uncertain significance Multiple submitters
Inborn genetic diseases
INF2 p.Glu725Ala Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 5
INF2 p.Glu926Asp Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Glu955Gln Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Gly1067Ser Uncertain significance Multiple submitters
Inborn genetic diseases
INF2 p.Gly1205Asp Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 5
INF2 p.Gly1217Glu Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 5
INF2 p.Gly123Asp Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Gly223Arg Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 5
INF2 p.Gly498Val Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 5
INF2 p.Gly545Val Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 5
INF2 p.Gly994Arg Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.His812Gln Uncertain significance Multiple submitters
Inborn genetic diseases
INF2 p.Ile538Val Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 5
INF2 p.Ile630Val Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 5
INF2 p.Ile685Thr Uncertain significance Multiple submitters
glomerulonephritis
INF2 p.Ile980Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Leu185Pro Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 5
INF2 p.Leu224Pro Uncertain significance Multiple submitters
Inborn genetic diseases
INF2 p.Lys1243Glu Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 5
INF2 p.Lys1244Glu Uncertain significance Multiple submitters
Inborn genetic diseases
INF2 p.Lys625Arg Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 5
INF2 p.Lys636Arg Uncertain significance Multiple submitters
Inborn genetic diseases
INF2 p.Lys697Met Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 5
INF2 p.Met182Val Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 5
INF2 p.Met733Leu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Pro1013Thr Uncertain significance Multiple submitters
Inborn genetic diseases
INF2 p.Pro1181Leu Uncertain significance Multiple submitters
Inborn genetic diseases
INF2 p.Pro427Leu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Pro459Leu Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 5
INF2 p.Pro529Thr Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 5
INF2 p.Pro959Ser Uncertain significance Multiple submitters
Inborn genetic diseases
INF2 p.Ser1126Arg Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 5
INF2 p.Ser371Gly Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 5
INF2 p.Ser409Leu Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 5
INF2 p.Ser483Ala Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 5
INF2 p.Thr1039Ala Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Thr26Met Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 5
INF2 p.Thr26Pro Uncertain significance Multiple submitters
Inborn genetic diseases
INF2 p.Thr376Ser Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 5
INF2 p.Thr525Ile Uncertain significance Multiple submitters
Inborn genetic diseases
INF2 p.Thr909Met Uncertain significance Multiple submitters
Inborn genetic diseases
INF2 p.Val191Met Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Ala1010Asp Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Ala1020Glu Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Ala1031Pro Uncertain significance Single submitter
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Ala1110Asp Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Ala1143Thr Uncertain significance Single submitter
INF2 p.Ala1180Ser Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Ala1184Ser Uncertain significance Single submitter
Inborn genetic diseases
INF2 p.Ala1184Val Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Ala12Thr Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Ala13Ser Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Ala13Val Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Ala148Asp Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Ala164Thr Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Ala203Asp Uncertain significance Single submitter
INF2 p.Ala213Glu Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Ala213Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Ala247Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Ala289Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Ala314Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Ala329Asp Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Ala393Pro Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Ala393Thr Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Ala418Val Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Ala470Pro Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Ala540Thr Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Ala549Thr Uncertain significance Single submitter
INF2 p.Ala549Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Ala585Val Uncertain significance Single submitter
Inborn genetic diseases
INF2 p.Ala594Pro Uncertain significance Single submitter
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Ala620Val Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Ala661Ser Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Ala696Gly Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Ala710Pro Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Ala710Thr Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Ala727Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Ala840Val Uncertain significance Single submitter
Inborn genetic diseases
INF2 p.Ala901Val Uncertain significance Single submitter
INF2 p.Ala990Gly Uncertain significance Single submitter
Inborn genetic diseases
INF2 p.Arg1028Ser Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Arg106Cys Uncertain significance Single submitter
Inborn genetic diseases
INF2 p.Arg1070Trp Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Arg1128Ser Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Arg112Gln Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Arg1211Gly Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Arg1221Gln Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Arg1222Lys Uncertain significance Single submitter
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Arg321Trp Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Arg347Pro Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Arg369Gly Uncertain significance Single submitter
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Arg40Pro Uncertain significance Single submitter
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Arg763Lys Uncertain significance Single submitter
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Arg763Ser Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Arg797Cys Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Arg91Cys Uncertain significance Single submitter
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Arg981Thr Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Arg987Trp Uncertain significance Single submitter
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Arg991Gln Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Arg993Gly Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Asn1119Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Asn1240Ser Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Asn363Ser Uncertain significance Single submitter
Inborn genetic diseases
INF2 p.Asn558Lys Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Asn796Lys Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Asn832His Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Asp1051Glu Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Asp1081His Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Asp1146Glu Uncertain significance Single submitter
INF2 p.Asp1171Tyr Uncertain significance Single submitter
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Asp1175Asn Uncertain significance Single submitter
INF2 p.Asp1175Glu Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Asp1196Gly Uncertain significance Single submitter
Inborn genetic diseases
INF2 p.Asp1236Tyr Uncertain significance Single submitter
INF2 p.Asp1238Asn Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Asp1239Asn Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Asp1239Glu Uncertain significance Single submitter
Charcot-Marie-Tooth disease dominant intermediate E

Predictors split 156

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 156

INF2 p.Ala149Ser Uncertain significance Multiple submitters
Inborn genetic diseases
INF2 p.Ala149Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Ala203Thr Uncertain significance Multiple submitters
focal segmental glomerulosclerosis
INF2 p.Ala949Thr Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 5
INF2 p.Arg1211Trp Likely benign Multiple submitters
Inborn genetic diseases
INF2 p.Arg556Trp Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Arg660Trp Benign/Likely benign Multiple submitters
focal segmental glomerulosclerosis 5
INF2 p.Arg735Trp Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Arg837Cys Benign/Likely benign Multiple submitters
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Arg852Trp Uncertain significance Multiple submitters
Inborn genetic diseases
INF2 p.Arg891Trp Uncertain significance Multiple submitters
Inborn genetic diseases
INF2 p.Arg917Trp Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Arg950Trp Benign/Likely benign Multiple submitters
kidney disorder
INF2 p.Asp702Asn Uncertain significance Multiple submitters
Inborn genetic diseases
INF2 p.Glu209Lys Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 5
INF2 p.Glu249Lys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Glu254Lys Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 5
INF2 p.Glu653Gly Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Gly830Ala Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 5
INF2 p.Gly86Val Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 5
INF2 p.Gly88Ser Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 5
INF2 p.Ile836Thr Benign/Likely benign Multiple submitters
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Leu211Pro Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 5
INF2 p.Leu446Gln Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 5
INF2 p.Leu833Pro Likely benign Multiple submitters
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Lys982Glu Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 5
INF2 p.Phe608Leu Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 5
INF2 p.Phe644Leu Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 5
INF2 p.Pro423Gln Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Pro441Ser Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 5
INF2 p.Pro464Arg Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Pro489Leu Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 5
INF2 p.Pro516Leu Benign/Likely benign Multiple submitters
focal segmental glomerulosclerosis 5
INF2 p.Ser293Leu Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 5
INF2 p.Thr909Lys Uncertain significance Multiple submitters
Inborn genetic diseases
INF2 p.Val137Gly Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 5
INF2 p.Ala213Pro Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Ala28Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Ala585Thr Benign Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Ala656Gly Uncertain significance Single submitter
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Ala743Pro Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Ala828Thr Uncertain significance Single submitter
INF2 p.Ala923Thr Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Ala949Val Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Arg177His Pathogenic Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Arg232His Conflicting Single submitter
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Arg234Gln Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Arg54His Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Arg555Trp Uncertain significance Single submitter
Inborn genetic diseases
INF2 p.Arg563Cys Likely benign Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Arg563His Uncertain significance Single submitter
Inborn genetic diseases
INF2 p.Arg622Trp Likely benign Single submitter
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Arg624Trp Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Arg689Trp Conflicting Single submitter
Inborn genetic diseases
INF2 p.Arg752Cys Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Arg83Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Arg868Cys Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Arg868His Likely benign Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Arg877Trp Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Arg917Gln Likely benign Single submitter
INF2 p.Arg922Cys Conflicting Single submitter
Inborn genetic diseases
INF2 p.Arg922His Conflicting Single submitter
Inborn genetic diseases
INF2 p.Arg930Gly Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Arg930Trp Likely benign Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Arg950Leu Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Arg951Trp Likely benign Single submitter
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Arg953Trp Conflicting Single submitter
Inborn genetic diseases
INF2 p.Arg991Trp Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Asp1200His Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Asp163His Uncertain significance Single submitter
Inborn genetic diseases
INF2 p.Asp240Asn Uncertain significance Single submitter
INF2 p.Asp598Asn Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Asp61His Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Asp634Glu Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Asp75Gly Uncertain significance Single submitter
INF2 p.Cys172Gly Likely benign Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Gln570His Uncertain significance Single submitter
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Gln674His Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Gln67Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Glu116Lys Uncertain significance Single submitter
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Glu256Lys Uncertain significance Single submitter
INF2 p.Glu603Gln Uncertain significance Single submitter
INF2 p.Glu653Lys Conflicting Single submitter
Inborn genetic diseases
INF2 p.Glu694Lys Uncertain significance Single submitter
INF2 p.Glu719Lys Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Glu851Lys Likely benign Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Glu860Lys Conflicting Single submitter
Inborn genetic diseases
INF2 p.Glu938Lys Uncertain significance Single submitter
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Glu947Asp Uncertain significance Single submitter
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Glu947Lys Benign Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Glu969Val Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Gly265Arg Likely benign Single submitter
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Gly52Cys Uncertain significance Single submitter
Inborn genetic diseases
INF2 p.Gly86Cys Uncertain significance Single submitter
Inborn genetic diseases
INF2 p.Gly88Cys Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.His773Arg Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Ile115Ser Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Leu119Arg Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Leu197Met Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Leu198Phe Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Leu641Phe Uncertain significance Single submitter
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Leu675Phe Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Leu74Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Leu77Val Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Leu81Val Uncertain significance Single submitter
Inborn genetic diseases
INF2 p.Leu882Pro Likely benign Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Leu919Val Conflicting Single submitter
Inborn genetic diseases
INF2 p.Leu924Arg Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Leu944Val Uncertain significance Single submitter
Inborn genetic diseases
INF2 p.Lys140Arg Uncertain significance Single submitter
INF2 p.Lys677Asn Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Phe1193Leu Uncertain significance Single submitter
Inborn genetic diseases
INF2 p.Phe599Leu Uncertain significance Single submitter
INF2 p.Phe632Leu Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Phe648Tyr Likely benign Single submitter
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Phe883Leu Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Pro423Arg Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Pro426Thr Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Pro427Arg Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Pro427Thr Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Pro440Ser Uncertain significance Single submitter
INF2 p.Pro441Leu Uncertain significance Single submitter
INF2 p.Pro460Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Pro460His Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Pro460Thr Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Pro461Gln Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Pro472Gln Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Pro475Ala Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Pro479Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Pro490Arg Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Pro491His Likely benign Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Pro492Leu Uncertain significance Single submitter
INF2 p.Pro492Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Pro493Arg Uncertain significance Single submitter
INF2 p.Pro504Gln Uncertain significance Single submitter
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Pro505Arg Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Pro519Thr Conflicting Single submitter
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Pro736Ser Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Pro755Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Pro952Leu Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Ser1188Cys Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Ser135Tyr Uncertain significance Single submitter
Inborn genetic diseases
INF2 p.Ser199Arg Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Ser700Arg Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Ser826Trp Uncertain significance Single submitter
Inborn genetic diseases
INF2 p.Ser842Pro Uncertain significance Single submitter
Charcot-Marie-Tooth disease dominant intermediate E
INF2 p.Thr631Ile Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Thr665Ile Conflicting Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Thr789Lys Uncertain significance Single submitter
focal segmental glomerulosclerosis 5
INF2 p.Thr989Ile Uncertain significance Single submitter
Inborn genetic diseases

All INF2 variants

Pathogenic 16

p.Glu184Lys Multiple submitters INF2-related disorder
p.Gly73Ser Multiple submitters focal segmental glomerulosclerosis 5
p.Leu128Pro Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E
p.Arg177His Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Cys104Trp Single submitter Charcot-Marie-Tooth disease dominant intermediate E
p.Gly114Asp Single submitter focal segmental glomerulosclerosis 5
p.Leu53Pro Single submitter
p.Leu57Pro Single submitter focal segmental glomerulosclerosis 5
p.Tyr50Asp Single submitter focal segmental glomerulosclerosis 5
p.Val105Glu Single submitter focal segmental glomerulosclerosis 5
p.Val108Asp Single submitter focal segmental glomerulosclerosis 5
p.Cys104Phe No assertion criteria Charcot-Marie-Tooth disease dominant intermediate E
p.Leu132Arg No assertion criteria Charcot-Marie-Tooth disease dominant intermediate E
p.Leu42Pro No assertion criteria focal segmental glomerulosclerosis 5
p.Ser85Trp No assertion criteria focal segmental glomerulosclerosis 5
p.Val181Gly No assertion criteria focal segmental glomerulosclerosis

Pathogenic/Likely pathogenic 13

p.Ala164_Asp166del Multiple submitters INF2-related disorder
p.Arg177Cys Multiple submitters focal segmental glomerulosclerosis 5
p.Arg214Cys Multiple submitters focal segmental glomerulosclerosis 5
p.Arg214His Multiple submitters INF2-related disorder
p.Arg218Gln Multiple submitters INF2-related disorder
p.Arg218Trp Multiple submitters focal segmental glomerulosclerosis 5
p.Arg91Gly Multiple submitters focal segmental glomerulosclerosis 5
p.Cys151Arg Multiple submitters INF2-related disorder
p.Glu220Lys Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E
p.Gly73Asp Multiple submitters focal segmental glomerulosclerosis 5
p.Gly73Val Multiple submitters focal segmental glomerulosclerosis 5
p.Leu132Pro Multiple submitters focal segmental glomerulosclerosis 5
p.Leu77Pro Multiple submitters INF2-related disorder

Likely pathogenic 33

p.Asn202Asp Multiple submitters focal segmental glomerulosclerosis 5
p.Gly157Asp Multiple submitters focal segmental glomerulosclerosis 5
p.Leu78Pro Multiple submitters Autosomal dominant INF2-related disorders
c.1735+1G>A Single submitter focal segmental glomerulosclerosis 5
p.Arg106_Val108del Single submitter focal segmental glomerulosclerosis 5
p.Arg106Pro Single submitter Charcot-Marie-Tooth disease
p.Arg177Gly Single submitter focal segmental glomerulosclerosis 5
p.Arg214Gly Single submitter focal segmental glomerulosclerosis 5
p.Arg214Leu Single submitter focal segmental glomerulosclerosis 5
p.Arg54Pro Single submitter focal segmental glomerulosclerosis 5
p.Arg56His Single submitter focal segmental glomerulosclerosis 5
p.Asn202His Single submitter focal segmental glomerulosclerosis 5
p.Asp255Asn Single submitter focal segmental glomerulosclerosis 5
p.Cys151Tyr Single submitter INF2-related disorder
p.Leu162Pro Single submitter focal segmental glomerulosclerosis 5
p.Leu245Pro Single submitter INF2-related disorder
p.Leu53Met Single submitter focal segmental glomerulosclerosis 5
p.Leu69Pro Single submitter Charcot-Marie-Tooth disease dominant intermediate E
p.Leu77Arg Single submitter Charcot-Marie-Tooth disease
p.Leu96fs Single submitter Charcot-Marie-Tooth disease dominant intermediate E
p.Met109Arg Single submitter
p.Phe68Ser Single submitter Charcot-Marie-Tooth disease
p.Ser129_Gln130insValArgGlnLeuSer Single submitter
p.Ser186Pro Single submitter INF2-related disorder
p.Ser46Cys Single submitter focal segmental glomerulosclerosis 5
p.Thr161Pro Single submitter focal segmental glomerulosclerosis 5
p.Arg177Pro No assertion criteria
p.Cys104Tyr No assertion criteria Charcot-Marie-Tooth disease dominant intermediate E
p.Ile118Asn No assertion criteria focal segmental glomerulosclerosis 5
p.Leu233Pro No assertion criteria INF2-related disorder
p.Leu30Arg No assertion criteria
p.Phe178Val No assertion criteria nephrotic syndrome
p.Ser85Leu No assertion criteria

Conflicting classifications of pathogenicity 177

c.1736-9_1736-7dup Single submitter focal segmental glomerulosclerosis 5
c.1949+3G>A Single submitter Inborn genetic diseases
c.2239+16C>T Single submitter focal segmental glomerulosclerosis 5
c.2419-5T>C Single submitter Inborn genetic diseases
c.2775+13G>A Single submitter focal segmental glomerulosclerosis 5
c.2776-5T>C Single submitter Inborn genetic diseases
c.2879-20G>C Single submitter focal segmental glomerulosclerosis 5
c.3041-4C>T Single submitter focal segmental glomerulosclerosis 5
c.507+6C>T Single submitter Inborn genetic diseases
c.986-14A>G Single submitter focal segmental glomerulosclerosis 5
c.986-9C>G Single submitter focal segmental glomerulosclerosis 5
c.-10G>A Single submitter focal segmental glomerulosclerosis 5
c.*1+1G>C Single submitter Charcot-Marie-Tooth disease dominant intermediate E
p.Ala1020Val Single submitter Inborn genetic diseases ⚠
p.Ala1052Thr Single submitter kidney disorder ⚠
p.Ala1165Val Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Ala213Val Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Ala356Val Single submitter Inborn genetic diseases ⚠
p.Ala400Thr Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Ala435Val Single submitter Inborn genetic diseases ⚠
p.Ala531= Single submitter focal segmental glomerulosclerosis 5
p.Ala592Thr Single submitter Inborn genetic diseases ⚠
p.Ala656Thr Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Ala696Val Single submitter Inborn genetic diseases ⚠
p.Ala701Thr Single submitter focal segmental glomerulosclerosis 5
p.Ala727Val Single submitter Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Ala729Thr Single submitter Inborn genetic diseases ⚠
p.Ala901Thr Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Ala923Thr Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Ala934Val Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Ala935Val Single submitter Inborn genetic diseases ⚠
p.Ala945Val Single submitter Inborn genetic diseases ⚠
p.Ala949= Single submitter Inborn genetic diseases
p.Ala949Val Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Ala95= Single submitter focal segmental glomerulosclerosis 5
p.Arg1028Cys Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Arg1045Trp Single submitter Inborn genetic diseases ⚠
p.Arg1070Gln Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Arg1075His Single submitter Inborn genetic diseases ⚠
p.Arg1213Trp Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Arg1225Cys Single submitter Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Arg1225Gly Single submitter Inborn genetic diseases ⚠
p.Arg1225His Single submitter Inborn genetic diseases ⚠
p.Arg212= Single submitter kidney disorder
p.Arg232His Single submitter Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Arg261Gln Single submitter Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Arg306Cys Single submitter Inborn genetic diseases ⚠
p.Arg306His Single submitter Inborn genetic diseases ⚠
p.Arg578His Single submitter Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Arg604= Single submitter kidney disorder
p.Arg604Gln Single submitter Inborn genetic diseases ⚠
p.Arg622Gly Single submitter Inborn genetic diseases ⚠
p.Arg622Pro Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Arg660Gln Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Arg689Trp Single submitter Inborn genetic diseases ⚠
p.Arg695Gln Single submitter Inborn genetic diseases ⚠
p.Arg717Gln Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Arg735Gln Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Arg752Cys Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Arg797His Single submitter Inborn genetic diseases ⚠
p.Arg820Gln Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Arg868Cys Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Arg877Trp Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Arg891Gln Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Arg922Cys Single submitter Inborn genetic diseases ⚠
p.Arg922His Single submitter Inborn genetic diseases ⚠
p.Arg930Gln Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Arg930Gly Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Arg953Gln Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Arg953Trp Single submitter Inborn genetic diseases ⚠
p.Arg987Gln Single submitter focal segmental glomerulosclerosis 5
p.Arg9Leu Single submitter Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Asn1018Ser Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Asn1119Thr Single submitter Inborn genetic diseases ⚠
p.Asn202Ser Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Asp1081Tyr Single submitter Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Asp1084Asn Single submitter Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Asp1154Val Single submitter Inborn genetic diseases ⚠
p.Asp1173Glu Single submitter Inborn genetic diseases ⚠
p.Asp1190Asn Single submitter Inborn genetic diseases ⚠
p.Asp1200Asn Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Asp133Asn Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Asp267Asn Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Asp598Asn Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Asp814Asn Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Asp997Asn Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Cys104Arg Single submitter Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Gln122Arg Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Gln366Arg Single submitter Inborn genetic diseases ⚠
p.Glu1174Lys Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Glu1195Lys Single submitter Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Glu156Lys Single submitter Inborn genetic diseases ⚠
p.Glu250Asp Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Glu395Lys Single submitter Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Glu403Gly Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Glu653Lys Single submitter Inborn genetic diseases ⚠
p.Glu719Lys Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Glu860Lys Single submitter Inborn genetic diseases ⚠
p.Glu948Ala Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Gly1021Arg Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Gly1035Ser Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Gly1056Ser Single submitter INF2-related disorder ⚠
p.Gly1125Arg Single submitter Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Gly1170Glu Single submitter INF2-related disorder ⚠
p.Gly6= Single submitter focal segmental glomerulosclerosis 5
p.Gly830Val Single submitter Inborn genetic diseases ⚠
p.Gly957Arg Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Gly998Arg Single submitter Inborn genetic diseases ⚠
p.His280Arg Single submitter Inborn genetic diseases ⚠
p.His399= Single submitter focal segmental glomerulosclerosis 5
p.Ile685Val Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Ile873Val Single submitter INF2-related disorder ⚠
p.Leu1064= Single submitter focal segmental glomerulosclerosis 5
p.Leu1086Gln Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Leu1086Pro Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Leu1245Pro Single submitter Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Leu245Val Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Leu342= Single submitter
p.Leu429Pro Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Leu74Arg Single submitter Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Leu78del Single submitter Charcot-Marie-Tooth disease dominant intermediate E
p.Leu805= Single submitter focal segmental glomerulosclerosis 5
p.Leu81Pro Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Leu919Val Single submitter Inborn genetic diseases ⚠
p.Lys1241Arg Single submitter Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Lys380Arg Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Lys962Thr Single submitter INF2-related disorder ⚠
p.Met1005Val Single submitter Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Met469Val Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Phe486= Single submitter focal segmental glomerulosclerosis 5
p.Phe883Leu Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Pro1235fs Single submitter focal segmental glomerulosclerosis 5
p.Pro1235Ser Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Pro422Ser Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Pro423_Pro428del Single submitter Charcot-Marie-Tooth disease dominant intermediate E
p.Pro427Thr Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Pro437Leu Single submitter Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Pro439Leu Single submitter Inborn genetic diseases ⚠
p.Pro460Thr Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Pro495= Single submitter INF2-related disorder
p.Pro519Thr Single submitter Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Pro528Ala Single submitter Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Pro959Ala Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Pro964= Single submitter kidney disorder
p.Pro964Arg Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Ser1000fs Single submitter focal segmental glomerulosclerosis 5
p.Ser1042= Single submitter focal segmental glomerulosclerosis 5
p.Ser1083= Single submitter focal segmental glomerulosclerosis 5
p.Ser1188Phe Single submitter Inborn genetic diseases
p.Ser1204Leu Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Ser120Asn Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Ser199= Single submitter focal segmental glomerulosclerosis 5
p.Ser263Ala Single submitter Inborn genetic diseases ⚠
p.Ser293= Single submitter focal segmental glomerulosclerosis 5
p.Ser483Phe Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Ser700Arg Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Thr1011Arg Single submitter Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Thr1027Met Single submitter Inborn genetic diseases ⚠
p.Thr1179Ala Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Thr170Met Single submitter Inborn genetic diseases ⚠
p.Thr665Ile Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Thr996Ile Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Tyr193Cys Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Val1053Met Single submitter Inborn genetic diseases ⚠
p.Val1140Ile Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Val1247fs Single submitter focal segmental glomerulosclerosis 5
p.Val137Met Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Val194Met Single submitter Inborn genetic diseases ⚠
p.Val229Ile Single submitter Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Val383Met Single submitter Inborn genetic diseases ⚠
p.Val397Met Single submitter Inborn genetic diseases ⚠
p.Val530Met Single submitter Inborn genetic diseases ⚠
p.Val539Met Single submitter Inborn genetic diseases ⚠
p.Val669Met Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Val730Met Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Val804Met Single submitter Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Val858Met Single submitter Inborn genetic diseases ⚠

Benign 111

c.1735+106G>A Multiple submitters
c.1736-175C>T Multiple submitters
c.1736-41G>A Multiple submitters
c.1736-51G>A Multiple submitters
c.1949+16A>G Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E
c.2138+9G>A Multiple submitters focal segmental glomerulosclerosis 5
c.2239+157T>C Multiple submitters
c.2310+8del Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E
c.2418+43C>A Multiple submitters
c.2489+53T>C Multiple submitters
c.2489+62G>C Multiple submitters
c.2611-122G>C Multiple submitters
c.2611-84G>A Multiple submitters
c.2775+15C>T Multiple submitters focal segmental glomerulosclerosis 5
c.2878+61C>T Multiple submitters
c.3041-146C>G Multiple submitters
c.3041-56C>T Multiple submitters
c.3041-75G>A Multiple submitters
c.391+17G>A Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E
c.391+18A>T Multiple submitters focal segmental glomerulosclerosis 5
c.391+6C>T Multiple submitters focal segmental glomerulosclerosis 5
c.667+212T>G Multiple submitters
c.668-31G>A Multiple submitters
c.668-32C>T Multiple submitters
c.668-78T>G Multiple submitters
c.668-90G>A Multiple submitters
c.702-57G>A Multiple submitters
c.843+16C>T Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E
c.844-36C>T Multiple submitters
c.985+66G>A Multiple submitters
c.985+66G>C Multiple submitters
c.-9-37C>T Multiple submitters
c.*136C>T Multiple submitters focal segmental glomerulosclerosis 5
c.*2-48_*2-47del Multiple submitters
c.*25A>G Multiple submitters focal segmental glomerulosclerosis 5
c.*437G>A Multiple submitters focal segmental glomerulosclerosis 5
c.*536G>T Multiple submitters focal segmental glomerulosclerosis 5
c.*553T>C Multiple submitters focal segmental glomerulosclerosis 5
c.*638G>A Multiple submitters focal segmental glomerulosclerosis 5
p.Arg877Gln Multiple submitters focal segmental glomerulosclerosis 5
p.Asp1022= Multiple submitters focal segmental glomerulosclerosis 5
p.Asp210= Multiple submitters focal segmental glomerulosclerosis 5
p.Asp880= Multiple submitters focal segmental glomerulosclerosis 5
p.Pro1096Ser Multiple submitters focal segmental glomerulosclerosis 5
p.Pro35= Multiple submitters focal segmental glomerulosclerosis 5
p.Pro423= Multiple submitters focal segmental glomerulosclerosis 5
p.Pro425= Multiple submitters focal segmental glomerulosclerosis 5
p.Thr1135Met Multiple submitters kidney disorder
p.Thr774= Multiple submitters focal segmental glomerulosclerosis 5
p.Val360Ile Multiple submitters focal segmental glomerulosclerosis 5
c.1+171A>G Single submitter
c.1+174C>T Single submitter
c.1+185C>T Single submitter
c.1735+42G>A Single submitter
c.1736-38dup Single submitter
c.1736-48A>G Single submitter
c.1949+170del Single submitter
c.1949+171G>A Single submitter
c.1949+34C>T Single submitter
c.1950-231C>T Single submitter
c.2052+17del Single submitter Charcot-Marie-Tooth disease dominant intermediate E
c.2239+170del Single submitter
c.2239+256G>A Single submitter
c.2489+117C>T Single submitter
c.2489+292C>T Single submitter
c.2490-292T>C Single submitter
c.2490-32G>A Single submitter
c.2775+16G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate E
c.2879-27G>A Single submitter
c.3040+21C>T Single submitter
c.3040+286C>A Single submitter
c.391+321C>T Single submitter
c.392-184G>A Single submitter
c.668-140_668-135del Single submitter
c.668-144_668-142del Single submitter
c.843+239G>A Single submitter
c.985+14dup Single submitter focal segmental glomerulosclerosis 5
c.*2-278G>A Single submitter
c.*2-294A>G Single submitter
c.*2-29A>G Single submitter
c.*288C>T Single submitter focal segmental glomerulosclerosis 5
p.Ala107= Single submitter focal segmental glomerulosclerosis 5
p.Ala531Val Single submitter Charcot-Marie-Tooth disease dominant intermediate E
p.Ala585Thr Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Ala729= Single submitter focal segmental glomerulosclerosis 5
p.Ala859= Single submitter focal segmental glomerulosclerosis 5
p.Arg1211Leu Single submitter focal segmental glomerulosclerosis 5
p.Arg852= Single submitter Charcot-Marie-Tooth disease dominant intermediate E
p.Arg981Lys Single submitter focal segmental glomerulosclerosis 5
p.Arg993Cys Single submitter Charcot-Marie-Tooth disease dominant intermediate E
p.Glu1176Lys Single submitter focal segmental glomerulosclerosis 5
p.Glu1195= Single submitter Charcot-Marie-Tooth disease dominant intermediate E
p.Glu335= Single submitter focal segmental glomerulosclerosis 5
p.Glu947Lys Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Gly187Ser Single submitter Charcot-Marie-Tooth disease dominant intermediate E
p.Gly965Arg Single submitter focal segmental glomerulosclerosis 5
p.Gly965Trp Single submitter focal segmental glomerulosclerosis 5
p.Ile973= Single submitter focal segmental glomerulosclerosis 5
p.Leu128= Single submitter Charcot-Marie-Tooth disease dominant intermediate E
p.Leu454= Single submitter focal segmental glomerulosclerosis 5
p.Pro381= Single submitter focal segmental glomerulosclerosis 5
p.Pro425Leu Single submitter
p.Pro427= Single submitter
p.Ser2= Single submitter Charcot-Marie-Tooth disease dominant intermediate E
p.Thr1027= Single submitter focal segmental glomerulosclerosis 5
p.Thr1040Ile Single submitter Charcot-Marie-Tooth disease dominant intermediate E
p.Thr333Pro Single submitter focal segmental glomerulosclerosis 5
p.Val204Ile Single submitter focal segmental glomerulosclerosis 5
p.Val449= Single submitter Charcot-Marie-Tooth disease dominant intermediate E
p.Val542Met Single submitter focal segmental glomerulosclerosis 5
p.Val854Ala Single submitter focal segmental glomerulosclerosis 5 ⚠

Benign/Likely benign 82

c.1736-18C>G Multiple submitters focal segmental glomerulosclerosis 5
c.1736-18C>T Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E
c.1950-10C>T Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E
c.2053-13C>T Multiple submitters focal segmental glomerulosclerosis 5
c.2138+12C>T Multiple submitters focal segmental glomerulosclerosis 5
c.2310+12del Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E
c.2418+10G>T Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E
c.2490-20C>T Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E
c.2775+20C>A Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E
c.3040+11C>T Multiple submitters focal segmental glomerulosclerosis 5
c.3694+13G>C Multiple submitters focal segmental glomerulosclerosis 5
c.3694+16G>A Multiple submitters focal segmental glomerulosclerosis 5
c.392-13_392-9dup Multiple submitters focal segmental glomerulosclerosis 5
c.507+7G>A Multiple submitters focal segmental glomerulosclerosis 5
c.668-12G>A Multiple submitters focal segmental glomerulosclerosis 5
c.*10C>T Multiple submitters focal segmental glomerulosclerosis 5
c.*16C>T Multiple submitters focal segmental glomerulosclerosis 5
c.*388A>G Multiple submitters focal segmental glomerulosclerosis 5
c.*544G>A Multiple submitters focal segmental glomerulosclerosis 5
p.Ala1082Ser Multiple submitters focal segmental glomerulosclerosis 5
p.Ala13Thr Multiple submitters Inborn genetic diseases
p.Ala203= Multiple submitters focal segmental glomerulosclerosis 5
p.Ala213= Multiple submitters focal segmental glomerulosclerosis 5
p.Ala314= Multiple submitters focal segmental glomerulosclerosis 5
p.Ala549= Multiple submitters focal segmental glomerulosclerosis 5
p.Ala585= Multiple submitters Inborn genetic diseases
p.Ala777= Multiple submitters focal segmental glomerulosclerosis 5
p.Arg1045Gln Multiple submitters Inborn genetic diseases
p.Arg1074Lys Multiple submitters Inborn genetic diseases
p.Arg1213Gln Multiple submitters Inborn genetic diseases
p.Arg1228= Multiple submitters focal segmental glomerulosclerosis 5
p.Arg578Cys Multiple submitters Inborn genetic diseases
p.Arg622Gln Multiple submitters focal segmental glomerulosclerosis 5
p.Arg660Trp Multiple submitters focal segmental glomerulosclerosis 5 ⚠
p.Arg820Trp Multiple submitters focal segmental glomerulosclerosis 5
p.Arg837Cys Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Arg852Gln Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E
p.Arg950Trp Multiple submitters kidney disorder ⚠
p.Asp1051= Multiple submitters focal segmental glomerulosclerosis 5
p.Asp591= Multiple submitters focal segmental glomerulosclerosis 5
p.Asp778= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E
p.Cys1246Ser Multiple submitters focal segmental glomerulosclerosis 5
p.Cys394= Multiple submitters focal segmental glomerulosclerosis 5
p.Cys484= Multiple submitters kidney disorder
p.Cys484Tyr Multiple submitters Inborn genetic diseases
p.Gln1249= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E
p.Gln827Lys Multiple submitters Inborn genetic diseases
p.Glu839= Multiple submitters focal segmental glomerulosclerosis 5
p.Gly1160Ser Multiple submitters focal segmental glomerulosclerosis 5
p.Gly547Asp Multiple submitters focal segmental glomerulosclerosis 5
p.His158= Multiple submitters focal segmental glomerulosclerosis 5
p.Ile1248= Multiple submitters focal segmental glomerulosclerosis 5
p.Ile602= Multiple submitters Inborn genetic diseases
p.Ile643= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E
p.Ile836Thr Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Leu1036= Multiple submitters focal segmental glomerulosclerosis 5
p.Leu14= Multiple submitters focal segmental glomerulosclerosis 5
p.Leu217= Multiple submitters Inborn genetic diseases
p.Leu454Phe Multiple submitters Inborn genetic diseases
p.Pro1023= Multiple submitters focal segmental glomerulosclerosis 5
p.Pro1069= Multiple submitters focal segmental glomerulosclerosis 5
p.Pro350Leu Multiple submitters focal segmental glomerulosclerosis 5
p.Pro421= Multiple submitters focal segmental glomerulosclerosis 5
p.Pro425_Pro428del Multiple submitters focal segmental glomerulosclerosis 5
p.Pro427_Pro428del Multiple submitters focal segmental glomerulosclerosis
p.Pro428_Leu429del Multiple submitters focal segmental glomerulosclerosis 5
p.Pro443= Multiple submitters focal segmental glomerulosclerosis 5
p.Pro458Ser Multiple submitters Inborn genetic diseases
p.Pro500Leu Multiple submitters focal segmental glomerulosclerosis 5
p.Pro516Leu Multiple submitters focal segmental glomerulosclerosis 5 ⚠
p.Pro528Ser Multiple submitters focal segmental glomerulosclerosis 5
p.Pro529= Multiple submitters focal segmental glomerulosclerosis 5
p.Pro590= Multiple submitters Inborn genetic diseases
p.Ser1000Asn Multiple submitters kidney disorder
p.Ser1026= Multiple submitters focal segmental glomerulosclerosis 5
p.Ser1204= Multiple submitters Inborn genetic diseases
p.Ser186= Multiple submitters Inborn genetic diseases
p.Ser382Gly Multiple submitters focal segmental glomerulosclerosis 5
p.Ser811= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E
p.Thr170= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E
p.Tyr770= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E
p.Val48= Multiple submitters Inborn genetic diseases

Likely benign 664

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

c.1735+73G>A Multiple submitters
c.1736-5G>A Multiple submitters focal segmental glomerulosclerosis 5
c.1736-6C>T Multiple submitters focal segmental glomerulosclerosis 5
c.1887+8C>T Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E
c.1888-33C>T Multiple submitters
c.1949+42C>T Multiple submitters
c.1950-10C>A Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E
c.1950-15C>T Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E
c.1950-20C>T Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E
c.1950-4C>G Multiple submitters focal segmental glomerulosclerosis 5
c.1950-4C>T Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E
c.2052+12A>G Multiple submitters focal segmental glomerulosclerosis 5
c.2052+50G>A Multiple submitters
c.2053-16G>A Multiple submitters focal segmental glomerulosclerosis 5
c.2240-16C>T Multiple submitters focal segmental glomerulosclerosis 5
c.2240-5T>C Multiple submitters focal segmental glomerulosclerosis 5
c.2240-8C>T Multiple submitters focal segmental glomerulosclerosis 5
c.2311-4C>G Multiple submitters Inborn genetic diseases
c.2418+19G>A Multiple submitters focal segmental glomerulosclerosis 5
c.2418+8G>A Multiple submitters focal segmental glomerulosclerosis 5
c.2419-14G>A Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E
c.2419-7A>G Multiple submitters focal segmental glomerulosclerosis 5
c.2490-15C>A Multiple submitters focal segmental glomerulosclerosis 5
c.2611-12C>T Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E
c.2611-41C>A Multiple submitters
c.2775+12C>T Multiple submitters focal segmental glomerulosclerosis 5
c.2776-81C>G Multiple submitters
c.2878+22G>T Multiple submitters
c.2879-10C>T Multiple submitters focal segmental glomerulosclerosis 5
c.2879-9G>A Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E
c.3040+142G>A Multiple submitters
c.3040+16A>G Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E
c.3040+7C>A Multiple submitters focal segmental glomerulosclerosis 5
c.3694+12_3694+15del Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E
c.391+7C>T Multiple submitters focal segmental glomerulosclerosis 5
c.508-17C>G Multiple submitters focal segmental glomerulosclerosis 5
c.667+20C>A Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E
c.701+19G>A Multiple submitters focal segmental glomerulosclerosis 5
c.701+281C>G Multiple submitters
c.843+33C>T Multiple submitters
c.844-252T>C Multiple submitters
c.844-6G>A Multiple submitters Inborn genetic diseases
c.985+10C>T Multiple submitters focal segmental glomerulosclerosis 5
c.985+65G>C Multiple submitters
c.-10+16C>A Multiple submitters
p.Ala1052= Multiple submitters focal segmental glomerulosclerosis 5
p.Ala1145= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E
p.Ala1184Thr Multiple submitters Inborn genetic diseases
p.Ala1197Val Multiple submitters focal segmental glomerulosclerosis 5
p.Ala239= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E
p.Ala470Asp Multiple submitters Inborn genetic diseases
p.Ala701= Multiple submitters focal segmental glomerulosclerosis 5
p.Ala727= Multiple submitters focal segmental glomerulosclerosis 5
p.Ala728= Multiple submitters Inborn genetic diseases
p.Ala808Val Multiple submitters Inborn genetic diseases
p.Ala923= Multiple submitters focal segmental glomerulosclerosis 5
p.Ala934= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E
p.Arg1159His Multiple submitters Inborn genetic diseases
p.Arg1211Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg218= Multiple submitters focal segmental glomerulosclerosis 5
p.Arg340= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E
p.Arg837His Multiple submitters Inborn genetic diseases
p.Arg87= Multiple submitters Inborn genetic diseases
p.Arg922= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E
p.Arg950Gln Multiple submitters focal segmental glomerulosclerosis 5
p.Asn1018= Multiple submitters focal segmental glomerulosclerosis 5
p.Asn121= Multiple submitters focal segmental glomerulosclerosis 5
p.Asn136= Multiple submitters Inborn genetic diseases
p.Asn183= Multiple submitters focal segmental glomerulosclerosis 5
p.Asn575= Multiple submitters focal segmental glomerulosclerosis 5
p.Asn652= Multiple submitters focal segmental glomerulosclerosis 5
p.Asp1173= Multiple submitters Inborn genetic diseases
p.Asp163= Multiple submitters focal segmental glomerulosclerosis 5
p.Asp240= Multiple submitters focal segmental glomerulosclerosis 5
p.Asp255= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E
p.Asp591Asn Multiple submitters focal segmental glomerulosclerosis 5
p.Asp895Asn Multiple submitters Inborn genetic diseases
p.Asp956= Multiple submitters focal segmental glomerulosclerosis 5
p.Asp997= Multiple submitters Inborn genetic diseases
p.Gln122= Multiple submitters Inborn genetic diseases
p.Gln330= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E
p.Gln715= Multiple submitters Inborn genetic diseases
p.Glu1043Lys Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E
p.Glu403Asp Multiple submitters Inborn genetic diseases
p.Glu681= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E
p.Glu851= Multiple submitters focal segmental glomerulosclerosis 5
p.Glu867Lys Multiple submitters focal segmental glomerulosclerosis 5
p.Gly264= Multiple submitters focal segmental glomerulosclerosis 5
p.Gly62= Multiple submitters Inborn genetic diseases
p.Gly88= Multiple submitters focal segmental glomerulosclerosis 5
p.His544= Multiple submitters focal segmental glomerulosclerosis 5
p.His683= Multiple submitters focal segmental glomerulosclerosis 5
p.Ile118= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E
p.Ile538= Multiple submitters Inborn genetic diseases
p.Ile718= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E
p.Leu1114= Multiple submitters focal segmental glomerulosclerosis 5
p.Leu295= Multiple submitters Inborn genetic diseases
p.Leu298= Multiple submitters focal segmental glomerulosclerosis 5
p.Leu522= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E
p.Leu572= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E
p.Leu833Pro Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Leu96= Multiple submitters focal segmental glomerulosclerosis 5
p.Lys1216Asn Multiple submitters focal segmental glomerulosclerosis 5
p.Lys966Asn Multiple submitters focal segmental glomerulosclerosis 5
p.Phe248= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E
p.Pro1034= Multiple submitters focal segmental glomerulosclerosis 5
p.Pro1069Leu Multiple submitters focal segmental glomerulosclerosis 5
p.Pro155= Multiple submitters focal segmental glomerulosclerosis 5
p.Pro431= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E
p.Pro459= Multiple submitters focal segmental glomerulosclerosis 5
p.Pro461= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E
p.Pro501= Multiple submitters focal segmental glomerulosclerosis 5
p.Pro518= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E
p.Pro597= Multiple submitters focal segmental glomerulosclerosis 5
p.Pro680= Multiple submitters Inborn genetic diseases
p.Ser1158= Multiple submitters focal segmental glomerulosclerosis 5
p.Ser1183= Multiple submitters focal segmental glomerulosclerosis 5
p.Ser1202= Multiple submitters Inborn genetic diseases
p.Ser173= Multiple submitters Inborn genetic diseases
p.Ser23Thr Multiple submitters focal segmental glomerulosclerosis 5
p.Ser359= Multiple submitters focal segmental glomerulosclerosis 5
p.Ser372Phe Multiple submitters focal segmental glomerulosclerosis 5
p.Ser433= Multiple submitters focal segmental glomerulosclerosis 5
p.Ser607= Multiple submitters focal segmental glomerulosclerosis 5
p.Ser85= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E
p.Ser874= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E
p.Ser93= Multiple submitters focal segmental glomerulosclerosis 5
p.Thr1054= Multiple submitters focal segmental glomerulosclerosis 5
p.Thr1087Ile Multiple submitters Inborn genetic diseases
p.Thr1179= Multiple submitters focal segmental glomerulosclerosis 5
p.Thr525= Multiple submitters focal segmental glomerulosclerosis 5
p.Thr789= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E
p.Thr799= Multiple submitters focal segmental glomerulosclerosis 5
p.Thr850= Multiple submitters focal segmental glomerulosclerosis 5
p.Tyr1079= Multiple submitters focal segmental glomerulosclerosis 5
p.Tyr124= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E
p.Tyr193= Multiple submitters focal segmental glomerulosclerosis 5
p.Val1140= Multiple submitters focal segmental glomerulosclerosis 5
p.Val200Met Multiple submitters Inborn genetic diseases
p.Val655= Multiple submitters focal segmental glomerulosclerosis 5
p.Val798Met Multiple submitters Inborn genetic diseases
c.1735+10C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate E
c.1735+16C>T Single submitter focal segmental glomerulosclerosis 5
c.1735+18C>A Single submitter focal segmental glomerulosclerosis 5
c.1736-14T>G Single submitter focal segmental glomerulosclerosis 5
c.1736-15G>A Single submitter focal segmental glomerulosclerosis 5
c.1736-17G>A Single submitter focal segmental glomerulosclerosis 5
c.1736-19C>G Single submitter Charcot-Marie-Tooth disease dominant intermediate E
c.1736-5G>C Single submitter
c.1736-8C>T Single submitter focal segmental glomerulosclerosis 5
c.1736-9A>G Single submitter focal segmental glomerulosclerosis 5
c.1887+7del Single submitter focal segmental glomerulosclerosis 5
c.1887+9G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate E
c.1888-10G>T Single submitter focal segmental glomerulosclerosis 5
c.1888-16G>A Single submitter focal segmental glomerulosclerosis 5
c.1888-16G>T Single submitter focal segmental glomerulosclerosis 5
c.1888-8T>G Single submitter focal segmental glomerulosclerosis 5
c.1888-9G>A Single submitter focal segmental glomerulosclerosis 5
c.1949+141A>G Single submitter
c.1949+18C>T Single submitter focal segmental glomerulosclerosis 5
c.1949+22dup Single submitter
c.1950-11C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate E
c.1950-13C>T Single submitter focal segmental glomerulosclerosis 5
c.1950-151A>G Single submitter
c.1950-20C>G Single submitter Charcot-Marie-Tooth disease dominant intermediate E
c.2052+14C>T Single submitter focal segmental glomerulosclerosis 5
c.2052+16C>T Single submitter focal segmental glomerulosclerosis 5
c.2052+19C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate E
c.2053-12T>A Single submitter focal segmental glomerulosclerosis 5
c.2053-17C>T Single submitter focal segmental glomerulosclerosis 5
c.2053-19G>A Single submitter focal segmental glomerulosclerosis 5
c.2053-4G>T Single submitter focal segmental glomerulosclerosis 5
c.2138+10dup Single submitter Charcot-Marie-Tooth disease dominant intermediate E
c.2138+13G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate E
c.2139-11G>A Single submitter
c.2139-12T>G Single submitter focal segmental glomerulosclerosis 5
c.2139-19C>T Single submitter focal segmental glomerulosclerosis 5
c.2139-4C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate E
c.2139-6C>T Single submitter focal segmental glomerulosclerosis 5
c.2239+165C>T Single submitter
c.2239+17G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate E
c.2239+20G>T Single submitter focal segmental glomerulosclerosis 5
c.2239+9G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate E
c.2240-11T>C Single submitter focal segmental glomerulosclerosis 5
c.2240-17C>T Single submitter focal segmental glomerulosclerosis 5
c.2240-19G>A Single submitter focal segmental glomerulosclerosis 5
c.2240-7C>T Single submitter focal segmental glomerulosclerosis 5
c.2240-9C>T Single submitter focal segmental glomerulosclerosis 5
c.2310+7C>T Single submitter focal segmental glomerulosclerosis 5
c.2310+7del Single submitter Charcot-Marie-Tooth disease dominant intermediate E
c.2310+8A>T Single submitter focal segmental glomerulosclerosis 5
c.2311-12T>C Single submitter focal segmental glomerulosclerosis 5
c.2311-13C>G Single submitter focal segmental glomerulosclerosis 5
c.2311-15C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate E
c.2311-7C>T Single submitter
c.2311-9C>A Single submitter focal segmental glomerulosclerosis 5
c.2418+10G>A Single submitter focal segmental glomerulosclerosis 5
c.2418+16G>A Single submitter focal segmental glomerulosclerosis 5
c.2418+16G>C Single submitter focal segmental glomerulosclerosis 5
c.2418+16G>T Single submitter Charcot-Marie-Tooth disease dominant intermediate E
c.2418+17G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate E
c.2418+19G>C Single submitter focal segmental glomerulosclerosis 5
c.2418+20G>A Single submitter focal segmental glomerulosclerosis 5
c.2418+20G>T Single submitter focal segmental glomerulosclerosis 5
c.2418+47C>T Single submitter
c.2418+7C>T Single submitter focal segmental glomerulosclerosis 5
c.2418+9T>C Single submitter Charcot-Marie-Tooth disease dominant intermediate E
c.2419-12G>A Single submitter focal segmental glomerulosclerosis 5
c.2419-12G>T Single submitter Charcot-Marie-Tooth disease dominant intermediate E
c.2419-15C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate E
c.2419-8C>A Single submitter focal segmental glomerulosclerosis 5
c.2489+115G>A Single submitter
c.2489+13T>C Single submitter Charcot-Marie-Tooth disease dominant intermediate E
c.2489+16C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate E
c.2489+17A>C Single submitter
c.2489+200G>A Single submitter
c.2489+21C>T Single submitter
c.2490-13C>G Single submitter focal segmental glomerulosclerosis 5
c.2490-17C>T Single submitter focal segmental glomerulosclerosis 5
c.2490-18G>A Single submitter focal segmental glomerulosclerosis 5
c.2490-301G>A Single submitter
c.2490-8C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate E
c.2610+15G>A Single submitter focal segmental glomerulosclerosis 5
c.2611-11C>T Single submitter focal segmental glomerulosclerosis 5
c.2611-16G>A Single submitter focal segmental glomerulosclerosis 5
c.2611-42G>A Single submitter
c.2611-6C>T Single submitter focal segmental glomerulosclerosis 5
c.2611-7C>T Single submitter focal segmental glomerulosclerosis 5
c.2775+11C>G Single submitter Charcot-Marie-Tooth disease dominant intermediate E
c.2775+17G>A Single submitter focal segmental glomerulosclerosis 5
c.2775+97G>A Single submitter
c.2776-15C>T Single submitter focal segmental glomerulosclerosis 5
c.2776-20G>A Single submitter focal segmental glomerulosclerosis 5
c.2776-6G>A Single submitter focal segmental glomerulosclerosis 5
c.2878+13C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate E
c.2878+14G>A Single submitter focal segmental glomerulosclerosis 5
c.2878+22G>C Single submitter
c.2878+23G>A Single submitter
c.2878+3G>A Single submitter
c.2879-5C>T Single submitter focal segmental glomerulosclerosis 5
c.2879-8C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate E
c.3040+13C>T Single submitter focal segmental glomerulosclerosis 5
c.3040+18_3040+23dup Single submitter Charcot-Marie-Tooth disease dominant intermediate E
c.3040+19G>A Single submitter focal segmental glomerulosclerosis 5
c.3040+19G>T Single submitter Charcot-Marie-Tooth disease dominant intermediate E
c.3040+7C>T Single submitter focal segmental glomerulosclerosis 5
c.3041-15T>C Single submitter Charcot-Marie-Tooth disease dominant intermediate E
c.3041-7C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate E
c.3041-90G>A Single submitter
c.3694+11G>A Single submitter focal segmental glomerulosclerosis 5
c.3694+15G>T Single submitter focal segmental glomerulosclerosis 5
c.3694+18C>T Single submitter focal segmental glomerulosclerosis 5
c.3694+20C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate E
c.3694+8_3694+9del Single submitter focal segmental glomerulosclerosis 5
c.3694+8A>C Single submitter focal segmental glomerulosclerosis 5
c.3695-10T>C Single submitter focal segmental glomerulosclerosis 5
c.3695-18T>G Single submitter focal segmental glomerulosclerosis 5
c.3695-21G>A Single submitter
c.3695-4G>C Single submitter focal segmental glomerulosclerosis 5
c.391+14T>C Single submitter focal segmental glomerulosclerosis 5
c.391+7C>G Single submitter focal segmental glomerulosclerosis 5
c.391+8G>A Single submitter focal segmental glomerulosclerosis 5
c.391+8G>T Single submitter Charcot-Marie-Tooth disease dominant intermediate E
c.392-14C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate E
c.392-17C>A Single submitter focal segmental glomerulosclerosis 5
c.392-17C>G Single submitter focal segmental glomerulosclerosis 5
c.392-230C>T Single submitter
c.392-247C>G Single submitter
c.392-8C>G Single submitter focal segmental glomerulosclerosis 5
c.507+14C>A Single submitter focal segmental glomerulosclerosis 5
c.507+18G>C Single submitter focal segmental glomerulosclerosis 5
c.507+19G>A Single submitter focal segmental glomerulosclerosis 5
c.507+9C>T Single submitter focal segmental glomerulosclerosis 5
c.508-10C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate E
c.508-13G>A Single submitter
c.508-13G>C Single submitter focal segmental glomerulosclerosis 5
c.508-14C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate E
c.508-16C>A Single submitter focal segmental glomerulosclerosis 5
c.508-16C>T Single submitter focal segmental glomerulosclerosis 5
c.508-5C>A Single submitter focal segmental glomerulosclerosis 5
c.667+11G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate E
c.667+15T>G Single submitter focal segmental glomerulosclerosis 5
c.667+17G>T Single submitter focal segmental glomerulosclerosis 5
c.667+19C>G Single submitter focal segmental glomerulosclerosis 5
c.667+20C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate E
c.667+8C>A Single submitter focal segmental glomerulosclerosis 5
c.667+8C>T Single submitter focal segmental glomerulosclerosis 5
c.668-13C>T Single submitter
c.668-14C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate E
c.668-19C>G Single submitter focal segmental glomerulosclerosis 5
c.668-4C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate E
c.668-82C>G Single submitter
c.668-9C>G Single submitter focal segmental glomerulosclerosis 5
c.701+18C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate E
c.701+27C>T Single submitter
c.701+7C>A Single submitter focal segmental glomerulosclerosis 5
c.702-11C>T Single submitter focal segmental glomerulosclerosis 5
c.702-13C>T Single submitter focal segmental glomerulosclerosis 5
c.702-15G>A Single submitter focal segmental glomerulosclerosis 5
c.702-18del Single submitter Charcot-Marie-Tooth disease dominant intermediate E

Uncertain significance 665

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

c.1950-3C>A Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E
c.2053-3C>T Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E
c.2418+3G>A Multiple submitters Inborn genetic diseases
c.3040+2T>C Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E
p.Ala1003Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala1041Gly Multiple submitters focal segmental glomerulosclerosis 5 ⚠
p.Ala149Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala149Val Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Ala203Thr Multiple submitters focal segmental glomerulosclerosis ⚠
p.Ala247Pro Multiple submitters focal segmental glomerulosclerosis 5 ⚠
p.Ala7Val Multiple submitters Inborn genetic diseases ⚠
p.Ala949Thr Multiple submitters focal segmental glomerulosclerosis 5 ⚠
p.Ala95Thr Multiple submitters Inborn genetic diseases
p.Ala975Ser Multiple submitters focal segmental glomerulosclerosis 5 ⚠
p.Arg1028His Multiple submitters focal segmental glomerulosclerosis 5 ⚠
p.Arg1075Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg1209Gly Multiple submitters focal segmental glomerulosclerosis 5 ⚠
p.Arg212Cys Multiple submitters focal segmental glomerulosclerosis 5 ⚠
p.Arg340Gln Multiple submitters focal segmental glomerulosclerosis 5 ⚠
p.Arg347Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg556Trp Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Arg735Trp Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Arg852Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg891Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg917Trp Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Arg953Pro Multiple submitters Inborn genetic diseases ⚠
p.Asp1022Glu Multiple submitters focal segmental glomerulosclerosis 5 ⚠
p.Asp1238Glu Multiple submitters focal segmental glomerulosclerosis 5 ⚠
p.Asp1239del Multiple submitters focal segmental glomerulosclerosis 5
p.Asp189Asn Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Asp255Gly Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Asp398Gly Multiple submitters focal segmental glomerulosclerosis 5 ⚠
p.Asp634Asn Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Asp702Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp94Val Multiple submitters focal segmental glomerulosclerosis 5 ⚠
p.Asp956Glu Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Cys332Gly Multiple submitters Inborn genetic diseases ⚠
p.Cys524Ser Multiple submitters focal segmental glomerulosclerosis 5 ⚠
p.Gln122Glu Multiple submitters focal segmental glomerulosclerosis 5 ⚠
p.Gln244Leu Multiple submitters focal segmental glomerulosclerosis 5 ⚠
p.Gln903His Multiple submitters INF2-related disorder ⚠
p.Glu1098Asp Multiple submitters focal segmental glomerulosclerosis 5 ⚠
p.Glu1195Gln Multiple submitters focal segmental glomerulosclerosis 5 ⚠
p.Glu209Lys Multiple submitters focal segmental glomerulosclerosis 5 ⚠
p.Glu249Lys Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Glu254Lys Multiple submitters focal segmental glomerulosclerosis 5 ⚠
p.Glu395Gln Multiple submitters focal segmental glomerulosclerosis 5 ⚠
p.Glu436Asp Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Glu436Lys Multiple submitters focal segmental glomerulosclerosis 5 ⚠
p.Glu593Lys Multiple submitters focal segmental glomerulosclerosis 5 ⚠
p.Glu653Gly Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Glu654Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu684Gln Multiple submitters Inborn genetic diseases ⚠
p.Glu725Ala Multiple submitters focal segmental glomerulosclerosis 5 ⚠
p.Glu926Asp Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Glu955Gln Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Glu969del Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E
p.Glu969Lys Multiple submitters focal segmental glomerulosclerosis 5
p.Gly1067Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly1205Asp Multiple submitters focal segmental glomerulosclerosis 5 ⚠
p.Gly1217Glu Multiple submitters focal segmental glomerulosclerosis 5 ⚠
p.Gly123Asp Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Gly223Arg Multiple submitters focal segmental glomerulosclerosis 5 ⚠
p.Gly498Val Multiple submitters focal segmental glomerulosclerosis 5 ⚠
p.Gly545Val Multiple submitters focal segmental glomerulosclerosis 5 ⚠
p.Gly830Ala Multiple submitters focal segmental glomerulosclerosis 5 ⚠
p.Gly86Val Multiple submitters focal segmental glomerulosclerosis 5 ⚠
p.Gly88Ser Multiple submitters focal segmental glomerulosclerosis 5 ⚠
p.Gly994Arg Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.His812Gln Multiple submitters Inborn genetic diseases ⚠
p.Ile538Val Multiple submitters focal segmental glomerulosclerosis 5 ⚠
p.Ile630Val Multiple submitters focal segmental glomerulosclerosis 5 ⚠
p.Ile685Thr Multiple submitters glomerulonephritis ⚠
p.Ile980Val Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Leu185Pro Multiple submitters focal segmental glomerulosclerosis 5 ⚠
p.Leu211Pro Multiple submitters focal segmental glomerulosclerosis 5 ⚠
p.Leu224Pro Multiple submitters Inborn genetic diseases ⚠
p.Leu406_Ser409del Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E
p.Leu446Gln Multiple submitters focal segmental glomerulosclerosis 5 ⚠
p.Leu466_Gly482dup Multiple submitters focal segmental glomerulosclerosis 5
p.Lys1243fs Multiple submitters focal segmental glomerulosclerosis 5
p.Lys1243Glu Multiple submitters focal segmental glomerulosclerosis 5 ⚠
p.Lys1244Glu Multiple submitters Inborn genetic diseases ⚠
p.Lys625Arg Multiple submitters focal segmental glomerulosclerosis 5 ⚠
p.Lys636Arg Multiple submitters Inborn genetic diseases ⚠
p.Lys697Met Multiple submitters focal segmental glomerulosclerosis 5 ⚠
p.Lys982Glu Multiple submitters focal segmental glomerulosclerosis 5 ⚠
p.Met182Val Multiple submitters focal segmental glomerulosclerosis 5 ⚠
p.Met733Leu Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Phe608Leu Multiple submitters focal segmental glomerulosclerosis 5 ⚠
p.Phe644Leu Multiple submitters focal segmental glomerulosclerosis 5 ⚠
p.Pro1013Thr Multiple submitters Inborn genetic diseases ⚠
p.Pro1181Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro423Gln Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Pro427Leu Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Pro441Ser Multiple submitters focal segmental glomerulosclerosis 5 ⚠
p.Pro444_Pro445del Multiple submitters focal segmental glomerulosclerosis 5
p.Pro459_Pro462del Multiple submitters focal segmental glomerulosclerosis 5
p.Pro459Leu Multiple submitters focal segmental glomerulosclerosis 5 ⚠
p.Pro464Arg Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Pro475del Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E
p.Pro489Leu Multiple submitters focal segmental glomerulosclerosis 5 ⚠
p.Pro529Thr Multiple submitters focal segmental glomerulosclerosis 5 ⚠
p.Pro959Ser Multiple submitters Inborn genetic diseases ⚠
p.Ser1126Arg Multiple submitters focal segmental glomerulosclerosis 5 ⚠
p.Ser1215fs Multiple submitters focal segmental glomerulosclerosis 5
p.Ser135Asn Multiple submitters Inborn genetic diseases
p.Ser293Leu Multiple submitters focal segmental glomerulosclerosis 5 ⚠
p.Ser371Gly Multiple submitters focal segmental glomerulosclerosis 5 ⚠
p.Ser409Leu Multiple submitters focal segmental glomerulosclerosis 5 ⚠
p.Ser483Ala Multiple submitters focal segmental glomerulosclerosis 5 ⚠
p.Ser905Phe Multiple submitters Inborn genetic diseases
p.Thr1039Ala Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Thr1242fs Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E
p.Thr26Met Multiple submitters focal segmental glomerulosclerosis 5 ⚠
p.Thr26Pro Multiple submitters Inborn genetic diseases ⚠
p.Thr376Ser Multiple submitters focal segmental glomerulosclerosis 5 ⚠
p.Thr525Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr909Lys Multiple submitters Inborn genetic diseases ⚠
p.Thr909Met Multiple submitters Inborn genetic diseases ⚠
p.Tyr50Ter Multiple submitters Inborn genetic diseases
p.Val137Gly Multiple submitters focal segmental glomerulosclerosis 5 ⚠
p.Val191Met Multiple submitters Charcot-Marie-Tooth disease dominant intermediate E ⚠
c.1735+5G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate E
c.1887+3G>A Single submitter focal segmental glomerulosclerosis 5
c.1888-17G>A Single submitter focal segmental glomerulosclerosis 5
c.1950-19G>A Single submitter focal segmental glomerulosclerosis 5
c.2052+3A>G Single submitter focal segmental glomerulosclerosis 5
c.2138+4A>G Single submitter focal segmental glomerulosclerosis 5
c.2138+6C>A Single submitter focal segmental glomerulosclerosis 5
c.2138+7A>C Single submitter focal segmental glomerulosclerosis 5
c.2139-3C>T Single submitter focal segmental glomerulosclerosis 5
c.2310_2310+2dup Single submitter focal segmental glomerulosclerosis 5
c.2311-3del Single submitter Charcot-Marie-Tooth disease dominant intermediate E
c.2419-19T>A Single submitter focal segmental glomerulosclerosis 5
c.2611-3_2766delinsA Single submitter Charcot-Marie-Tooth disease dominant intermediate E
c.2611-3dup Single submitter Inborn genetic diseases
c.2775+6G>A Single submitter focal segmental glomerulosclerosis 5
c.2776-1G>A Single submitter
c.2878+19_2878+48dup Single submitter focal segmental glomerulosclerosis 5
c.2878+5G>A Single submitter focal segmental glomerulosclerosis 5
c.2879-3C>T Single submitter focal segmental glomerulosclerosis 5
c.3041-3C>T Single submitter focal segmental glomerulosclerosis 5
c.3694+5C>T Single submitter focal segmental glomerulosclerosis 5
c.3695-11T>G Single submitter focal segmental glomerulosclerosis 5
c.372_391+2del Single submitter focal segmental glomerulosclerosis 5
c.391+6C>A Single submitter focal segmental glomerulosclerosis 5
c.507+3G>T Single submitter focal segmental glomerulosclerosis 5
c.507+4G>T Single submitter focal segmental glomerulosclerosis 5
c.667+5G>A Single submitter focal segmental glomerulosclerosis 5
c.668-3del Single submitter focal segmental glomerulosclerosis 5
c.985+5G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate E
c.985+5G>C Single submitter focal segmental glomerulosclerosis 5
c.-50G>A Single submitter focal segmental glomerulosclerosis 5
c.*153C>T Single submitter focal segmental glomerulosclerosis 5
c.*187C>T Single submitter focal segmental glomerulosclerosis 5
c.*232G>A Single submitter focal segmental glomerulosclerosis 5
c.*289G>A Single submitter focal segmental glomerulosclerosis 5
c.*311T>A Single submitter focal segmental glomerulosclerosis 5
c.*314G>A Single submitter focal segmental glomerulosclerosis 5
c.*358C>T Single submitter focal segmental glomerulosclerosis 5
c.*396G>T Single submitter focal segmental glomerulosclerosis 5
c.*447A>T Single submitter focal segmental glomerulosclerosis 5
c.*503C>T Single submitter focal segmental glomerulosclerosis 5
c.*803G>A Single submitter focal segmental glomerulosclerosis 5
c.*815C>T Single submitter focal segmental glomerulosclerosis 5
p.1171DE[2] Single submitter
p.Ala1003fs Single submitter focal segmental glomerulosclerosis 5
p.Ala1010Asp Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Ala1020Glu Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Ala1031Pro Single submitter Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Ala107del Single submitter focal segmental glomerulosclerosis 5
p.Ala1110Asp Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Ala1143Thr Single submitter ⚠
p.Ala1180Ser Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Ala1184Ser Single submitter Inborn genetic diseases ⚠
p.Ala1184Val Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Ala12Thr Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Ala13Ser Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Ala13Val Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Ala148Asp Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Ala164Thr Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Ala203Asp Single submitter ⚠
p.Ala213Glu Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Ala213Pro Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Ala213Thr Single submitter Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Ala247Val Single submitter Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Ala253_Glu254del Single submitter Charcot-Marie-Tooth disease dominant intermediate E
p.Ala289Val Single submitter Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Ala28Val Single submitter Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Ala314Thr Single submitter Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Ala329Asp Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Ala393Pro Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Ala393Thr Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Ala418Val Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Ala457del Single submitter focal segmental glomerulosclerosis 5
p.Ala470Pro Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Ala540Thr Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Ala549Thr Single submitter ⚠
p.Ala549Val Single submitter Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Ala585Val Single submitter Inborn genetic diseases ⚠
p.Ala594Pro Single submitter Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Ala620Val Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Ala656Gly Single submitter Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Ala661Ser Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Ala696Gly Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Ala710Pro Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Ala710Thr Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Ala727Thr Single submitter Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Ala743Pro Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Ala828Thr Single submitter ⚠
p.Ala840Val Single submitter Inborn genetic diseases ⚠
p.Ala901Val Single submitter ⚠
p.Ala923fs Single submitter focal segmental glomerulosclerosis 5
p.Ala923Val Single submitter Charcot-Marie-Tooth disease dominant intermediate E
p.Ala990Asp Single submitter
p.Ala990Gly Single submitter Inborn genetic diseases ⚠
p.Arg1028Ser Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Arg106Cys Single submitter Inborn genetic diseases ⚠
p.Arg1070Trp Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Arg1128Ser Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Arg112Gln Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Arg1211Gly Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Arg1221Gln Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Arg1221Pro Single submitter focal segmental glomerulosclerosis 5
p.Arg1222Lys Single submitter Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Arg234Gln Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Arg234Ter Single submitter
p.Arg261Leu Single submitter focal segmental glomerulosclerosis 5
p.Arg261Ter Single submitter focal segmental glomerulosclerosis 5
p.Arg321Trp Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Arg347Pro Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Arg347Ter Single submitter Charcot-Marie-Tooth disease dominant intermediate E
p.Arg369Gly Single submitter Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Arg40Pro Single submitter Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Arg54His Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Arg555Trp Single submitter Inborn genetic diseases ⚠
p.Arg563His Single submitter Inborn genetic diseases ⚠
p.Arg604Ter Single submitter
p.Arg624Trp Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Arg695Ter Single submitter focal segmental glomerulosclerosis 5
p.Arg763Lys Single submitter Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Arg763Ser Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Arg797Cys Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Arg820fs Single submitter Inborn genetic diseases
p.Arg83Leu Single submitter Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Arg91Cys Single submitter Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Arg91Leu Single submitter focal segmental glomerulosclerosis 5
p.Arg930Leu Single submitter focal segmental glomerulosclerosis 5
p.Arg950Leu Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Arg981Thr Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Arg987Trp Single submitter Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Arg991Gln Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Arg991Trp Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Arg993Gly Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Arg9Pro Single submitter focal segmental glomerulosclerosis 5
p.Arg9Ser Single submitter
p.Asn1119Ser Single submitter Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Asn1240Ser Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Asn363Ser Single submitter Inborn genetic diseases ⚠
p.Asn49Ser Single submitter
p.Asn558Lys Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Asn796Lys Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Asn832His Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Asp1051Glu Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Asp1081His Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Asp1146Glu Single submitter ⚠
p.Asp1171Tyr Single submitter Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Asp1175Asn Single submitter ⚠
p.Asp1175Glu Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Asp1196Gly Single submitter Inborn genetic diseases ⚠
p.Asp1200His Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Asp1236fs Single submitter focal segmental glomerulosclerosis 5
p.Asp1236Tyr Single submitter ⚠
p.Asp1238Asn Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Asp1239Asn Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Asp1239Glu Single submitter Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Asp163His Single submitter Inborn genetic diseases ⚠
p.Asp228Ala Single submitter focal segmental glomerulosclerosis 5
p.Asp240Asn Single submitter ⚠
p.Asp267His Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Asp328Asn Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Asp365Asn Single submitter Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Asp365Glu Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Asp543Glu Single submitter Inborn genetic diseases ⚠
p.Asp591Gly Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Asp61Asn Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Asp61His Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Asp634Glu Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Asp75Gly Single submitter ⚠
p.Asp814= Single submitter
p.Asp895Gly Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Asp929Tyr Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Asp94Gly Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Asp995Gly Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Cys101Arg Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Cys526Gly Single submitter ⚠
p.Cys526Ser Single submitter focal segmental glomerulosclerosis 5 ⚠
p.Cys526Tyr Single submitter Charcot-Marie-Tooth disease dominant intermediate E ⚠
p.Cys745Arg Single submitter focal segmental glomerulosclerosis 5 ⚠