NEFM — 118 ClinVar variants
All ClinVar germline NEFM variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 105 flagged for review →
3 Benign · 2 Likely benign · 113 Uncertain significance
Full NEFM gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 105
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 lean, ClinVar uncertain 72
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- NEFM p.Ala13Gly Uncertain significance Single submitter
- NEFM p.Ala159Thr Uncertain significance Single submitter
- NEFM p.Ala297Thr Uncertain significance Single submitter
- NEFM p.Ala475Gly Uncertain significance Single submitter
- NEFM p.Ala501Pro Uncertain significance Single submitter
- NEFM p.Ala508Pro Uncertain significance Single submitter
- NEFM p.Ala543Val Uncertain significance Single submitter
- NEFM p.Ala580Asp Uncertain significance Single submitter
- NEFM p.Ala58Ser Uncertain significance Single submitter
- NEFM p.Ala678Gly Uncertain significance Single submitter
- NEFM p.Ala792Thr Uncertain significance Single submitter
- NEFM p.Ala839Ser Uncertain significance Single submitter
- NEFM p.Ala869Gly Uncertain significance Single submitter
- NEFM p.Arg188Cys Uncertain significance Single submitter
- NEFM p.Arg204His Uncertain significance Single submitter
- NEFM p.Arg322His Uncertain significance Single submitter
- NEFM p.Arg335His Uncertain significance Single submitter
- NEFM p.Arg382Ser Uncertain significance Single submitter
- NEFM p.Arg427Gln Uncertain significance Single submitter
- NEFM p.Asn85Ser Uncertain significance Single submitter
- NEFM p.Asp209Tyr Uncertain significance Single submitter
- NEFM p.Gln566Pro Uncertain significance Single submitter
- NEFM p.Glu162Val Uncertain significance Single submitter
- NEFM p.Glu239Lys Uncertain significance Single submitter
- NEFM p.Glu289Ala Uncertain significance Single submitter
- NEFM p.Glu478Gln Uncertain significance Single submitter
- NEFM p.Glu526Asp Uncertain significance Single submitter
- NEFM p.Glu565Gly Uncertain significance Single submitter
- NEFM p.Glu568Lys Uncertain significance Single submitter
- NEFM p.Glu581Lys Uncertain significance Single submitter
- NEFM p.Glu584Gly Uncertain significance Single submitter
- NEFM p.Glu593Lys Uncertain significance Single submitter
- NEFM p.Glu695Lys Uncertain significance Single submitter
- NEFM p.Glu703Asp Uncertain significance Single submitter
- NEFM p.Glu706Val Uncertain significance Single submitter
- NEFM p.Glu716Gly Uncertain significance Single submitter
- NEFM p.Glu716Lys Uncertain significance Single submitter
- NEFM p.Glu780Lys Uncertain significance Single submitter
- NEFM p.Glu786Lys Uncertain significance Single submitter
- NEFM p.Glu885Lys Uncertain significance Single submitter
- NEFM p.Gly577Val Uncertain significance Single submitter
- NEFM p.Gly626Ser Uncertain significance Single submitter
- NEFM p.Gly865Ala Uncertain significance Single submitter
- NEFM p.Gly866Ala Uncertain significance Single submitter
- NEFM p.Gly866Glu Uncertain significance Single submitter
- NEFM p.His183Arg Uncertain significance Single submitter
- NEFM p.Ile210Leu Uncertain significance Single submitter
- NEFM p.Ile249Thr Uncertain significance Single submitter
- NEFM p.Ile800Leu Uncertain significance Single submitter
- NEFM p.Ile800Met Uncertain significance Single submitter
- NEFM p.Lys168Arg Uncertain significance Single submitter
- NEFM p.Lys698Asn Uncertain significance Single submitter
- NEFM p.Lys754Arg Uncertain significance Single submitter
- NEFM p.Lys766Gln Uncertain significance Single submitter
- NEFM p.Lys809Glu Uncertain significance Single submitter
- NEFM p.Pro11Ala Uncertain significance Single submitter
- NEFM p.Pro518Ser Uncertain significance Single submitter
- NEFM p.Pro838Ser Uncertain significance Single submitter
- NEFM p.Ser279Asn Uncertain significance Single submitter
- NEFM p.Ser28Gly Uncertain significance Single submitter
- NEFM p.Ser553Tyr Uncertain significance Single submitter
- NEFM p.Ser821Arg Uncertain significance Single submitter
- NEFM p.Ser863Asn Uncertain significance Single submitter
- NEFM p.Thr199Ser Uncertain significance Single submitter
- NEFM p.Thr425Ala Uncertain significance Single submitter
- NEFM p.Thr4Met Uncertain significance Single submitter
- NEFM p.Thr816Pro Uncertain significance Single submitter
- NEFM p.Thr889Asn Uncertain significance Single submitter
- NEFM p.Tyr121His Uncertain significance Single submitter
- NEFM p.Val441Leu Uncertain significance Single submitter
- NEFM p.Val482Leu Uncertain significance Single submitter
- NEFM p.Val909Leu Uncertain significance Single submitter
Predictors split 33
The independent predictors disagree with each other — read with care.
- NEFM p.Ala193Glu Uncertain significance Single submitter
- NEFM p.Ala302Val Uncertain significance Single submitter
- NEFM p.Arg204Gly Uncertain significance Single submitter
- NEFM p.Arg258His Uncertain significance Single submitter
- NEFM p.Arg42Gly Uncertain significance Single submitter
- NEFM p.Arg54Ser Uncertain significance Single submitter
- NEFM p.Asp174Asn Uncertain significance Single submitter
- NEFM p.Asp244Asn Uncertain significance Single submitter
- NEFM p.Glu19Lys Uncertain significance Single submitter
- NEFM p.Glu332Asp Uncertain significance Single submitter
- NEFM p.Glu458Ala Uncertain significance Single submitter
- NEFM p.Glu479Lys Uncertain significance Single submitter
- NEFM p.Glu637Lys Uncertain significance Single submitter
- NEFM p.Glu901Asp Uncertain significance Single submitter
- NEFM p.Pro616Leu Uncertain significance Single submitter
- NEFM p.Pro657Leu Uncertain significance Single submitter
- NEFM p.Pro660Ala Uncertain significance Single submitter
- NEFM p.Pro686Ser Uncertain significance Single submitter
- NEFM p.Ser23Asn Uncertain significance Single submitter
- NEFM p.Ser418Arg Uncertain significance Single submitter
- NEFM p.Ser615Phe Uncertain significance Single submitter
- NEFM p.Ser641Tyr Uncertain significance Single submitter
- NEFM p.Ser654Pro Uncertain significance Single submitter
- NEFM p.Ser659Ala Uncertain significance Single submitter
- NEFM p.Ser680Tyr Uncertain significance Single submitter
- NEFM p.Ser752Leu Uncertain significance Single submitter
- NEFM p.Thr264Ile Uncertain significance Single submitter
- NEFM p.Thr362Ala Uncertain significance Single submitter
- NEFM p.Tyr52Cys Uncertain significance Single submitter
- NEFM p.Tyr63His Uncertain significance Single submitter
- NEFM p.Val256Met Uncertain significance Single submitter
- NEFM p.Val829Phe Uncertain significance Single submitter
- NEFM p.Val853Met Uncertain significance Single submitter
All NEFM variants
Benign 3
- p.Ala596Asp Multiple submitters
- p.Ser226= Multiple submitters
- p.Thr4= Multiple submitters
Likely benign 2
- p.Ala605Val Single submitter
- p.Gly765Glu Single submitter
Uncertain significance 113
- p.Ala13Gly Single submitter ⚠
- p.Ala159Thr Single submitter ⚠
- p.Ala193Glu Single submitter ⚠
- p.Ala297Thr Single submitter ⚠
- p.Ala302Val Single submitter ⚠
- p.Ala475Gly Single submitter ⚠
- p.Ala501Pro Single submitter ⚠
- p.Ala508Pro Single submitter ⚠
- p.Ala543Val Single submitter ⚠
- p.Ala580Asp Single submitter ⚠
- p.Ala58Ser Single submitter ⚠
- p.Ala678Gly Single submitter ⚠
- p.Ala792Thr Single submitter ⚠
- p.Ala839Ser Single submitter ⚠
- p.Ala869Gly Single submitter ⚠
- p.Arg188Cys Single submitter ⚠
- p.Arg204Gly Single submitter ⚠
- p.Arg204His Single submitter ⚠
- p.Arg258His Single submitter ⚠
- p.Arg322His Single submitter ⚠
- p.Arg335His Single submitter ⚠
- p.Arg382Ser Single submitter ⚠
- p.Arg427Gln Single submitter ⚠
- p.Arg42Gly Single submitter ⚠
- p.Arg54Ser Single submitter ⚠
- p.Asn85Ser Single submitter ⚠
- p.Asp174Asn Single submitter ⚠
- p.Asp209Tyr Single submitter ⚠
- p.Asp221Asn Single submitter
- p.Asp244Asn Single submitter ⚠
- p.Asp244Glu Single submitter
- p.Asp76Asn Single submitter
- p.Gln305His Single submitter
- p.Gln566Pro Single submitter ⚠
- p.Glu162Val Single submitter ⚠
- p.Glu19Lys Single submitter ⚠
- p.Glu239Lys Single submitter ⚠
- p.Glu289Ala Single submitter ⚠
- p.Glu332Asp Single submitter ⚠
- p.Glu458Ala Single submitter ⚠
- p.Glu478Gln Single submitter ⚠
- p.Glu479Lys Single submitter ⚠
- p.Glu526Asp Single submitter ⚠
- p.Glu565Gly Single submitter ⚠
- p.Glu568Lys Single submitter ⚠
- p.Glu581Lys Single submitter ⚠
- p.Glu584Gly Single submitter ⚠
- p.Glu593Lys Single submitter ⚠
- p.Glu637Lys Single submitter ⚠
- p.Glu695Lys Single submitter ⚠
- p.Glu703Asp Single submitter ⚠
- p.Glu706Val Single submitter ⚠
- p.Glu716Gly Single submitter ⚠
- p.Glu716Lys Single submitter ⚠
- p.Glu780Lys Single submitter ⚠
- p.Glu786Lys Single submitter ⚠
- p.Glu885Lys Single submitter ⚠
- p.Glu901Asp Single submitter ⚠
- p.Gly577Val Single submitter ⚠
- p.Gly626Ser Single submitter ⚠
- p.Gly865Ala Single submitter ⚠
- p.Gly866Ala Single submitter ⚠
- p.Gly866Glu Single submitter ⚠
- p.His183Arg Single submitter ⚠
- p.Ile210Leu Single submitter ⚠
- p.Ile249Thr Single submitter ⚠
- p.Ile800Leu Single submitter ⚠
- p.Ile800Met Single submitter ⚠
- p.Ile873Met Single submitter
- p.Lys168Arg Single submitter ⚠
- p.Lys698Asn Single submitter ⚠
- p.Lys754Arg Single submitter ⚠
- p.Lys766Gln Single submitter ⚠
- p.Lys809Glu Single submitter ⚠
- p.Phe24Ser Single submitter
- p.Pro11Ala Single submitter ⚠
- p.Pro518Ser Single submitter ⚠
- p.Pro616Leu Single submitter ⚠
- p.Pro657Leu Single submitter ⚠
- p.Pro660Ala Single submitter ⚠
- p.Pro686Ser Single submitter ⚠
- p.Pro838Ser Single submitter ⚠
- p.Ser23Asn Single submitter ⚠
- p.Ser279Asn Single submitter ⚠
- p.Ser28Gly Single submitter ⚠
- p.Ser418Arg Single submitter ⚠
- p.Ser553Tyr Single submitter ⚠
- p.Ser615Phe Single submitter ⚠
- p.Ser641Tyr Single submitter ⚠
- p.Ser654Pro Single submitter ⚠
- p.Ser659Ala Single submitter ⚠
- p.Ser680Tyr Single submitter ⚠
- p.Ser752Leu Single submitter ⚠
- p.Ser821Arg Single submitter ⚠
- p.Ser863Asn Single submitter ⚠
- p.Thr199Ser Single submitter ⚠
- p.Thr264Ile Single submitter ⚠
- p.Thr362Ala Single submitter ⚠
- p.Thr425Ala Single submitter ⚠
- p.Thr4Met Single submitter ⚠
- p.Thr816Pro Single submitter ⚠
- p.Thr889Asn Single submitter ⚠
- p.Tyr121His Single submitter ⚠
- p.Tyr52Cys Single submitter ⚠
- p.Tyr63His Single submitter ⚠
- p.Val218Leu Single submitter
- p.Val224Ala Single submitter
- p.Val256Met Single submitter ⚠
- p.Val441Leu Single submitter ⚠
- p.Val482Leu Single submitter ⚠
- p.Val829Phe Single submitter ⚠
- p.Val853Met Single submitter ⚠
- p.Val909Leu Single submitter ⚠