Sugi Variant

Sugi Variant/LMNB2

LMNB2 — 679 ClinVar variants

All ClinVar germline LMNB2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 310 flagged for review →

4 Pathogenic · 27 Conflicting · 47 Benign · 15 Benign/Likely benign · 275 Likely benign · 311 Uncertain significance

Full LMNB2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 310

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

Predictors vs ClinVar 1

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

Predictors agree, ClinVar conflicts 17

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

Predictors lean, ClinVar uncertain 194

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 194

Predictors split 98

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

All LMNB2 variants

Pathogenic 4

  • p.Glu398Lys Multiple submitters LMNB2-related disorder
  • p.Val193fs Single submitter microcephaly 27, primary, autosomal dominant
  • p.Asn54His No assertion criteria microcephaly 27, primary, autosomal dominant
  • p.His157Tyr No assertion criteria progressive myoclonic epilepsy type 9 ⚠

Conflicting classifications of pathogenicity 27

  • c.265-19C>T Single submitter progressive myoclonic epilepsy type 9
  • p.Ala192Ser Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Ala355Thr Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Ala468Gly Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Ala94Val Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Arg171His Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Arg234Trp Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Arg411His Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Arg433His Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Arg438Trp Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Arg561His Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Arg584Cys Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Asn132Ser Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Asp253Asn Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Asp333Glu Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Gln250His Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Glu339Ala Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Glu512Gly Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Gly599Asp Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Leu353Met Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Ser469Leu Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Ser492Leu Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Ser559Arg Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Thr233Met Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Thr518Met Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Tyr618His Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Val582Met Single submitter progressive myoclonic epilepsy type 9 ⚠

Benign 47

Benign/Likely benign 15

  • c.1483-11G>A Multiple submitters progressive myoclonic epilepsy type 9
  • c.1483-12C>T Multiple submitters lipodystrophy, partial, acquired, susceptibility to
  • c.1711-7C>T Multiple submitters progressive myoclonic epilepsy type 9
  • c.1822-17T>C Multiple submitters progressive myoclonic epilepsy type 9
  • c.855+8C>T Multiple submitters lipodystrophy, partial, acquired, susceptibility to
  • p.Arg235Gln Multiple submitters microcephaly 27, primary, autosomal dominant
  • p.Arg416Leu Multiple submitters progressive myoclonic epilepsy type 9
  • p.Asp268= Multiple submitters progressive myoclonic epilepsy type 9
  • p.Gly172Ser Multiple submitters lipodystrophy, partial, acquired, susceptibility to
  • p.Gly460Ser Multiple submitters progressive myoclonic epilepsy type 9
  • p.Gly472= Multiple submitters progressive myoclonic epilepsy type 9
  • p.Ser134= Multiple submitters progressive myoclonic epilepsy type 9
  • p.Ser469= Multiple submitters lipodystrophy, partial, acquired, susceptibility to
  • p.Thr85= Multiple submitters lipodystrophy, partial, acquired, susceptibility to
  • p.Tyr96= Multiple submitters progressive myoclonic epilepsy type 9

Likely benign 275

  • c.1203-17_1203-14del Multiple submitters lipodystrophy, partial, acquired, susceptibility to
  • c.1483-4C>T Multiple submitters lipodystrophy, partial, acquired, susceptibility to
  • c.1821+7C>A Multiple submitters progressive myoclonic epilepsy type 9
  • c.1822-20TCCT[3] Multiple submitters progressive myoclonic epilepsy type 9
  • c.1822-20TCCT[5] Multiple submitters progressive myoclonic epilepsy type 9
  • c.559-20C>T Multiple submitters progressive myoclonic epilepsy type 9
  • c.982-15C>A Multiple submitters lipodystrophy, partial, acquired, susceptibility to
  • c.982-4G>A Multiple submitters lipodystrophy, partial, acquired, susceptibility to
  • c.982-5C>T Multiple submitters progressive myoclonic epilepsy type 9
  • c.982-8C>T Multiple submitters progressive myoclonic epilepsy type 9
  • p.Ala302= Multiple submitters progressive myoclonic epilepsy type 9
  • p.Ala525= Multiple submitters lipodystrophy, partial, acquired, susceptibility to
  • p.Ala536= Multiple submitters lipodystrophy, partial, acquired, susceptibility to
  • p.Ala596= Multiple submitters progressive myoclonic epilepsy type 9
  • p.Ala94= Multiple submitters progressive myoclonic epilepsy type 9
  • p.Arg114= Multiple submitters lipodystrophy, partial, acquired, susceptibility to
  • p.Arg205= Multiple submitters lipodystrophy, partial, acquired, susceptibility to
  • p.Arg222= Multiple submitters progressive myoclonic epilepsy type 9
  • p.Arg272Gln Multiple submitters lipodystrophy, partial, acquired, susceptibility to
  • p.Arg28= Multiple submitters lipodystrophy, partial, acquired, susceptibility to
  • p.Arg524= Multiple submitters lipodystrophy, partial, acquired, susceptibility to
  • p.Asn389= Multiple submitters progressive myoclonic epilepsy type 9
  • p.Asp176= Multiple submitters lipodystrophy, partial, acquired, susceptibility to
  • p.Asp189= Multiple submitters progressive myoclonic epilepsy type 9
  • p.Asp379= Multiple submitters lipodystrophy, partial, acquired, susceptibility to
  • p.Glu160= Multiple submitters progressive myoclonic epilepsy type 9
  • p.Gly455= Multiple submitters progressive myoclonic epilepsy type 9
  • p.Gly455Arg Multiple submitters lipodystrophy, partial, acquired, susceptibility to
  • p.Ile479= Multiple submitters progressive myoclonic epilepsy type 9
  • p.Pro543= Multiple submitters lipodystrophy, partial, acquired, susceptibility to
  • p.Pro6= Multiple submitters progressive myoclonic epilepsy type 9
  • p.Pro610= Multiple submitters progressive myoclonic epilepsy type 9
  • p.Ser214= Multiple submitters lipodystrophy, partial, acquired, susceptibility to
  • p.Ser37= Multiple submitters lipodystrophy, partial, acquired, susceptibility to
  • p.Ser410= Multiple submitters lipodystrophy, partial, acquired, susceptibility to
  • p.Ser426= Multiple submitters progressive myoclonic epilepsy type 9
  • p.Ser447= Multiple submitters progressive myoclonic epilepsy type 9
  • p.Ser450= Multiple submitters lipodystrophy, partial, acquired, susceptibility to
  • p.Ser581= Multiple submitters lipodystrophy, partial, acquired, susceptibility to
  • p.Ser581Leu Multiple submitters progressive myoclonic epilepsy type 9
  • p.Thr110= Multiple submitters lipodystrophy, partial, acquired, susceptibility to
  • p.Thr233= Multiple submitters progressive myoclonic epilepsy type 9
  • p.Thr456= Multiple submitters lipodystrophy, partial, acquired, susceptibility to
  • p.Thr518= Multiple submitters lipodystrophy, partial, acquired, susceptibility to
  • p.Tyr618= Multiple submitters progressive myoclonic epilepsy type 9
  • p.Val206= Multiple submitters progressive myoclonic epilepsy type 9
  • c.1202+10G>T Single submitter lipodystrophy, partial, acquired, susceptibility to
  • c.1202+4C>T Single submitter progressive myoclonic epilepsy type 9
  • c.1203-13G>A Single submitter lipodystrophy, partial, acquired, susceptibility to
  • c.1203-16C>T Single submitter progressive myoclonic epilepsy type 9
  • c.1203-17C>G Single submitter lipodystrophy, partial, acquired, susceptibility to
  • c.1482+12G>C Single submitter progressive myoclonic epilepsy type 9
  • c.1482+17G>C Single submitter lipodystrophy, partial, acquired, susceptibility to
  • c.1482+19G>A Single submitter progressive myoclonic epilepsy type 9
  • c.1482+7G>A Single submitter progressive myoclonic epilepsy type 9
  • c.1483-7C>T Single submitter progressive myoclonic epilepsy type 9
  • c.1590+15A>G Single submitter
  • c.1591-8G>A Single submitter lipodystrophy, partial, acquired, susceptibility to
  • c.1710+14G>T Single submitter lipodystrophy, partial, acquired, susceptibility to
  • c.1710+18G>C Single submitter lipodystrophy, partial, acquired, susceptibility to
  • c.1710+18G>T Single submitter
  • c.1710+7G>A Single submitter lipodystrophy, partial, acquired, susceptibility to
  • c.1710+7G>T Single submitter progressive myoclonic epilepsy type 9
  • c.1711-11G>A Single submitter progressive myoclonic epilepsy type 9
  • c.1711-16G>A Single submitter lipodystrophy, partial, acquired, susceptibility to
  • c.1711-16G>T Single submitter progressive myoclonic epilepsy type 9
  • c.1711-18G>A Single submitter progressive myoclonic epilepsy type 9
  • c.1711-19C>T Single submitter progressive myoclonic epilepsy type 9
  • c.1711-6G>A Single submitter lipodystrophy, partial, acquired, susceptibility to
  • c.1711-8C>T Single submitter lipodystrophy, partial, acquired, susceptibility to
  • c.1821+13T>C Single submitter lipodystrophy, partial, acquired, susceptibility to
  • c.1821+14G>A Single submitter
  • c.1821+15C>G Single submitter progressive myoclonic epilepsy type 9
  • c.1821+15C>T Single submitter progressive myoclonic epilepsy type 9
  • c.1821+16C>T Single submitter progressive myoclonic epilepsy type 9
  • c.1821+8C>T Single submitter progressive myoclonic epilepsy type 9
  • c.1822-10C>G Single submitter lipodystrophy, partial, acquired, susceptibility to
  • c.1822-20T>C Single submitter
  • c.1822-20TCCT[6] Single submitter lipodystrophy, partial, acquired, susceptibility to
  • c.264+15T>C Single submitter progressive myoclonic epilepsy type 9
  • c.264+7G>T Single submitter lipodystrophy, partial, acquired, susceptibility to
  • c.264+9del Single submitter lipodystrophy, partial, acquired, susceptibility to
  • c.265-6C>T Single submitter progressive myoclonic epilepsy type 9
  • c.401+12C>T Single submitter progressive myoclonic epilepsy type 9
  • c.401+13G>A Single submitter progressive myoclonic epilepsy type 9
  • c.558+18C>T Single submitter lipodystrophy, partial, acquired, susceptibility to
  • c.558+19G>A Single submitter progressive myoclonic epilepsy type 9
  • c.558+20_558+24del Single submitter progressive myoclonic epilepsy type 9
  • c.559-12T>C Single submitter lipodystrophy, partial, acquired, susceptibility to
  • c.559-14C>T Single submitter progressive myoclonic epilepsy type 9
  • c.559-19G>A Single submitter lipodystrophy, partial, acquired, susceptibility to
  • c.559-5C>G Single submitter lipodystrophy, partial, acquired, susceptibility to
  • c.559-7C>T Single submitter progressive myoclonic epilepsy type 9
  • c.684+10T>C Single submitter progressive myoclonic epilepsy type 9
  • c.684+14C>T Single submitter lipodystrophy, partial, acquired, susceptibility to
  • c.684+15T>G Single submitter lipodystrophy, partial, acquired, susceptibility to
  • c.684+20T>C Single submitter progressive myoclonic epilepsy type 9
  • c.685-18C>T Single submitter progressive myoclonic epilepsy type 9
  • c.685-4G>A Single submitter progressive myoclonic epilepsy type 9
  • c.685-8G>A Single submitter lipodystrophy, partial, acquired, susceptibility to
  • c.855+11C>A Single submitter
  • c.855+12A>G Single submitter
  • c.855+14G>A Single submitter progressive myoclonic epilepsy type 9
  • c.855+15C>G Single submitter
  • c.855+16G>A Single submitter progressive myoclonic epilepsy type 9
  • c.855+19T>G Single submitter
  • c.855+9G>T Single submitter progressive myoclonic epilepsy type 9
  • c.856-10C>T Single submitter lipodystrophy, partial, acquired, susceptibility to
  • c.856-12G>A Single submitter progressive myoclonic epilepsy type 9
  • c.856-13C>T Single submitter progressive myoclonic epilepsy type 9
  • c.856-13del Single submitter progressive myoclonic epilepsy type 9
  • c.856-16G>A Single submitter progressive myoclonic epilepsy type 9
  • c.856-17C>T Single submitter lipodystrophy, partial, acquired, susceptibility to
  • c.856-6C>T Single submitter lipodystrophy, partial, acquired, susceptibility to
  • c.856-8C>T Single submitter lipodystrophy, partial, acquired, susceptibility to
  • c.981+14C>A Single submitter progressive myoclonic epilepsy type 9
  • c.981+14C>T Single submitter progressive myoclonic epilepsy type 9
  • c.981+15G>A Single submitter progressive myoclonic epilepsy type 9
  • c.981+20C>T Single submitter lipodystrophy, partial, acquired, susceptibility to
  • c.982-10C>T Single submitter
  • c.982-11C>T Single submitter progressive myoclonic epilepsy type 9
  • c.982-12C>T Single submitter progressive myoclonic epilepsy type 9
  • c.982-13G>A Single submitter lipodystrophy, partial, acquired, susceptibility to
  • c.982-20G>A Single submitter lipodystrophy, partial, acquired, susceptibility to
  • c.982-4G>C Single submitter lipodystrophy, partial, acquired, susceptibility to
  • c.982-4G>T Single submitter progressive myoclonic epilepsy type 9
  • c.982-9C>T Single submitter progressive myoclonic epilepsy type 9
  • p.Ala101= Single submitter progressive myoclonic epilepsy type 9
  • p.Ala103= Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Ala164= Single submitter progressive myoclonic epilepsy type 9
  • p.Ala17= Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Ala185= Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Ala187= Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Ala194= Single submitter progressive myoclonic epilepsy type 9
  • p.Ala194Pro Single submitter progressive myoclonic epilepsy type 9
  • p.Ala22= Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Ala259= Single submitter progressive myoclonic epilepsy type 9
  • p.Ala343= Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Ala372= Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Ala417= Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Ala468= Single submitter progressive myoclonic epilepsy type 9
  • p.Ala514= Single submitter
  • p.Ala536Val Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Ala567= Single submitter progressive myoclonic epilepsy type 9
  • p.Ala66= Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Arg116= Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Arg171= Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Arg171Cys Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Arg304= Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Arg411= Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Arg411Cys Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Arg416= Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Arg51= Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Arg65= Single submitter progressive myoclonic epilepsy type 9
  • p.Arg8Cys Single submitter progressive myoclonic epilepsy type 9
  • p.Arg9= Single submitter progressive myoclonic epilepsy type 9
  • p.Arg9Cys Single submitter progressive myoclonic epilepsy type 9
  • p.Asn296= Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Asn566= Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Asp129= Single submitter progressive myoclonic epilepsy type 9
  • p.Asp220= Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Asp347= Single submitter progressive myoclonic epilepsy type 9
  • p.Asp354= Single submitter progressive myoclonic epilepsy type 9
  • p.Asp602= Single submitter
  • p.Gln266= Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Gln527= Single submitter progressive myoclonic epilepsy type 9
  • p.Glu127= Single submitter progressive myoclonic epilepsy type 9
  • p.Glu139= Single submitter progressive myoclonic epilepsy type 9
  • p.Glu199= Single submitter progressive myoclonic epilepsy type 9
  • p.Glu232= Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Glu243= Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Glu269Asp Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Glu309= Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Glu339= Single submitter progressive myoclonic epilepsy type 9
  • p.Glu359= Single submitter
  • p.Glu387= Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Glu399= Single submitter progressive myoclonic epilepsy type 9
  • p.Glu46= Single submitter progressive myoclonic epilepsy type 9
  • p.Glu477= Single submitter progressive myoclonic epilepsy type 9
  • p.Glu482= Single submitter progressive myoclonic epilepsy type 9
  • p.Glu509= Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Glu509Asp Single submitter
  • p.Glu52= Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Glu570Lys Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Glu592= Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Glu83= Single submitter progressive myoclonic epilepsy type 9
  • p.Glu97= Single submitter progressive myoclonic epilepsy type 9
  • p.Gly140= Single submitter progressive myoclonic epilepsy type 9
  • p.Gly147Asp Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Gly172= Single submitter progressive myoclonic epilepsy type 9
  • p.Gly323= Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Gly432= Single submitter
  • p.Gly448= Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Gly526= Single submitter progressive myoclonic epilepsy type 9
  • p.Gly569= Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Gly599= Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Gly608= Single submitter
  • p.Gly91= Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.His237= Single submitter progressive myoclonic epilepsy type 9
  • p.His267= Single submitter progressive myoclonic epilepsy type 9
  • p.His463= Single submitter progressive myoclonic epilepsy type 9
  • p.Ile476= Single submitter progressive myoclonic epilepsy type 9
  • p.Ile513= Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Ile61= Single submitter
  • p.Leu117= Single submitter progressive myoclonic epilepsy type 9
  • p.Leu163= Single submitter progressive myoclonic epilepsy type 9
  • p.Leu203= Single submitter progressive myoclonic epilepsy type 9
  • p.Leu215= Single submitter progressive myoclonic epilepsy type 9
  • p.Leu219= Single submitter
  • p.Leu25= Single submitter progressive myoclonic epilepsy type 9
  • p.Leu273= Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Leu286= Single submitter
  • p.Leu314= Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Leu338Met Single submitter progressive myoclonic epilepsy type 9
  • p.Leu402= Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Leu452= Single submitter progressive myoclonic epilepsy type 9
  • p.Leu464= Single submitter progressive myoclonic epilepsy type 9
  • p.Leu488= Single submitter
  • p.Leu50= Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Leu523= Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Leu74= Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Leu76= Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Lys200= Single submitter
  • p.Lys579Asn Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Met528Leu Single submitter progressive myoclonic epilepsy type 9
  • p.Phe517= Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Phe598Ser Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Pro15= Single submitter progressive myoclonic epilepsy type 9
  • p.Pro32= Single submitter progressive myoclonic epilepsy type 9
  • p.Pro444= Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Pro449= Single submitter progressive myoclonic epilepsy type 9
  • p.Pro4Ser Single submitter progressive myoclonic epilepsy type 9
  • p.Ser168= Single submitter progressive myoclonic epilepsy type 9
  • p.Ser2= Single submitter progressive myoclonic epilepsy type 9
  • p.Ser246= Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Ser288= Single submitter progressive myoclonic epilepsy type 9
  • p.Ser2Asn Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Ser301= Single submitter progressive myoclonic epilepsy type 9
  • p.Ser322= Single submitter progressive myoclonic epilepsy type 9
  • p.Ser419= Single submitter progressive myoclonic epilepsy type 9
  • p.Ser422= Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Ser459= Single submitter progressive myoclonic epilepsy type 9
  • p.Ser471= Single submitter progressive myoclonic epilepsy type 9
  • p.Ser492= Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Ser497Phe Single submitter ⚠
  • p.Ser5= Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Ser541= Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Ser544= Single submitter progressive myoclonic epilepsy type 9
  • p.Ser580= Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Ser614= Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Ser98= Single submitter progressive myoclonic epilepsy type 9
  • p.Thr143= Single submitter progressive myoclonic epilepsy type 9
  • p.Thr143Met Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Thr20Ile Single submitter progressive myoclonic epilepsy type 9
  • p.Thr23= Single submitter progressive myoclonic epilepsy type 9
  • p.Thr281= Single submitter progressive myoclonic epilepsy type 9
  • p.Thr361= Single submitter progressive myoclonic epilepsy type 9
  • p.Thr413= Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Thr428= Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Thr454Met Single submitter progressive myoclonic epilepsy type 9
  • p.Thr530= Single submitter progressive myoclonic epilepsy type 9
  • p.Thr545= Single submitter progressive myoclonic epilepsy type 9
  • p.Thr562= Single submitter progressive myoclonic epilepsy type 9
  • p.Tyr515= Single submitter progressive myoclonic epilepsy type 9
  • p.Tyr521= Single submitter progressive myoclonic epilepsy type 9
  • p.Val131Ala Single submitter
  • p.Val177Met Single submitter progressive myoclonic epilepsy type 9
  • p.Val242= Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Val412= Single submitter progressive myoclonic epilepsy type 9
  • p.Val451Ile Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Val84= Single submitter lipodystrophy, partial, acquired, susceptibility to
  • c.1203-7C>G No assertion criteria LMNB2-related disorder
  • c.*2C>A No assertion criteria LMNB2-related disorder
  • c.*9_*21del No assertion criteria LMNB2-related disorder
  • p.Val577= No assertion criteria LMNB2-related disorder

Uncertain significance 311

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

  • c.1202+5G>A Multiple submitters progressive myoclonic epilepsy type 9
  • p.Ala178Thr Multiple submitters progressive myoclonic epilepsy type 9 ⚠
  • p.Ala299Val Multiple submitters progressive myoclonic epilepsy type 9 ⚠
  • p.Ala29Pro Multiple submitters lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Ala567Thr Multiple submitters lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Arg104Gly Multiple submitters lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Arg114His Multiple submitters lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Arg148Cys Multiple submitters lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Arg148His Multiple submitters lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Arg158Gln Multiple submitters progressive myoclonic epilepsy type 9 ⚠
  • p.Arg181Gln Multiple submitters lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Arg205His Multiple submitters lipodystrophy, partial, acquired, susceptibility to
  • p.Arg211Cys Multiple submitters progressive myoclonic epilepsy type 9 ⚠
  • p.Arg211Leu Multiple submitters lipodystrophy, partial, acquired, susceptibility to
  • p.Arg231Trp Multiple submitters lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Arg239Gln Multiple submitters progressive myoclonic epilepsy type 9 ⚠
  • p.Arg239Trp Multiple submitters progressive myoclonic epilepsy type 9 ⚠
  • p.Arg240His Multiple submitters lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Arg248Gln Multiple submitters progressive myoclonic epilepsy type 9 ⚠
  • p.Arg248Trp Multiple submitters lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Arg304Cys Multiple submitters progressive myoclonic epilepsy type 9 ⚠
  • p.Arg304His Multiple submitters lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Arg311His Multiple submitters progressive myoclonic epilepsy type 9 ⚠
  • p.Arg336Trp Multiple submitters lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Arg350Gln Multiple submitters progressive myoclonic epilepsy type 9 ⚠
  • p.Arg430Cys Multiple submitters lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Arg438Leu Multiple submitters progressive myoclonic epilepsy type 9
  • p.Arg524Cys Multiple submitters lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Arg524His Multiple submitters lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Arg9His Multiple submitters microcephaly 27, primary, autosomal dominant
  • p.Asp220His Multiple submitters lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Asp268Asn Multiple submitters lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Asp287Asn Multiple submitters microcephaly 27, primary, autosomal dominant ⚠
  • p.Asp297Asn Multiple submitters progressive myoclonic epilepsy type 9 ⚠
  • p.Asp297Glu Multiple submitters progressive myoclonic epilepsy type 9 ⚠
  • p.Glu141Lys Multiple submitters progressive myoclonic epilepsy type 9 ⚠
  • p.Glu188Lys Multiple submitters progressive myoclonic epilepsy type 9 ⚠
  • p.Glu232Lys Multiple submitters progressive myoclonic epilepsy type 9 ⚠
  • p.Glu251Asp Multiple submitters progressive myoclonic epilepsy type 9 ⚠
  • p.Glu269Lys Multiple submitters lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Glu376Gln Multiple submitters lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Glu593Gln Multiple submitters progressive myoclonic epilepsy type 9 ⚠
  • p.Glu597Lys Multiple submitters lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Gly190Ser Multiple submitters progressive myoclonic epilepsy type 9 ⚠
  • p.Gly323Ser Multiple submitters progressive myoclonic epilepsy type 9 ⚠
  • p.Gly397Asp Multiple submitters lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Gly448Cys Multiple submitters progressive myoclonic epilepsy type 9 ⚠
  • p.Gly510Arg Multiple submitters progressive myoclonic epilepsy type 9 ⚠
  • p.His191Arg Multiple submitters progressive myoclonic epilepsy type 9 ⚠
  • p.Lys308Glu Multiple submitters lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Lys489Gln Multiple submitters lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Phe349Leu Multiple submitters lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Pro24Gln Multiple submitters lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Pro542Ser Multiple submitters progressive myoclonic epilepsy type 9 ⚠
  • p.Ser134Arg Multiple submitters lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Ser247Arg Multiple submitters LMNB2-related disorder ⚠
  • p.Ser405Phe Multiple submitters lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Ser407Arg Multiple submitters lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Ser419Leu Multiple submitters progressive myoclonic epilepsy type 9 ⚠
  • p.Ser544Leu Multiple submitters progressive myoclonic epilepsy type 9 ⚠
  • p.Ser5Ile Multiple submitters progressive myoclonic epilepsy type 9 ⚠
  • p.Thr110Met Multiple submitters progressive myoclonic epilepsy type 9 ⚠
  • p.Val412Ile Multiple submitters lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Val474Ile Multiple submitters progressive myoclonic epilepsy type 9 ⚠
  • p.Val563Ile Multiple submitters lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Val565Leu Multiple submitters progressive myoclonic epilepsy type 9 ⚠
  • c.1202+4C>G Single submitter lipodystrophy, partial, acquired, susceptibility to
  • c.1203-14T>A Single submitter progressive myoclonic epilepsy type 9
  • c.1482+6C>T Single submitter progressive myoclonic epilepsy type 9
  • c.1711-6G>C Single submitter
  • c.264+5G>T Single submitter progressive myoclonic epilepsy type 9
  • c.402-18_402-3del Single submitter progressive myoclonic epilepsy type 9
  • c.558+5G>A Single submitter lipodystrophy, partial, acquired, susceptibility to
  • c.559-2A>G Single submitter lipodystrophy, partial, acquired, susceptibility to
  • c.684+1G>A Single submitter progressive myoclonic epilepsy type 9
  • c.684+3G>A Single submitter progressive myoclonic epilepsy type 9
  • c.685-6C>A Single submitter progressive myoclonic epilepsy type 9
  • c.855+15C>T Single submitter progressive myoclonic epilepsy type 9
  • p.Ala101Val Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Ala111Ser Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Ala115Gly Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Ala135Val Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Ala165Pro Single submitter ⚠
  • p.Ala165Ser Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Ala17Ser Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Ala18Val Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Ala192Val Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Ala257Val Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Ala259Val Single submitter ⚠
  • p.Ala303Thr Single submitter ⚠
  • p.Ala331Thr Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Ala390Thr Single submitter ⚠
  • p.Ala417Asp Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Ala427Ser Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Ala465Thr Single submitter ⚠
  • p.Ala468Thr Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Ala470Thr Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Ala470Val Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Ala514Thr Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Ala533Thr Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Ala536Thr Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Ala539Thr Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Ala567Val Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Ala596Gly Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Ala94Gly Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Arg104Gln Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Arg104Leu Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Arg104Trp Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Arg10Leu Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Arg10Pro Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Arg112Gln Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Arg114Cys Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Arg116Gln Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Arg116Trp Single submitter ⚠
  • p.Arg13Cys Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Arg14fs Single submitter
  • p.Arg14Gly Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Arg158Trp Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Arg171Leu Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Arg181Trp Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Arg205Cys Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Arg211His Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Arg222Gln Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Arg231Gln Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Arg231Gly Single submitter ⚠
  • p.Arg234Gln Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Arg236_Arg240del Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Arg236Gln Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Arg272Leu Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Arg272Trp Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Arg311Cys Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Arg313His Single submitter ⚠
  • p.Arg336Gln Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Arg336Pro Single submitter ⚠
  • p.Arg346Gln Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Arg364Gln Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Arg364Trp Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Arg40Leu Single submitter neurodevelopmental disorder ⚠
  • p.Arg416Gln Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Arg430His Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Arg433Cys Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Arg438Gln Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Arg505Ser Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Arg51Cys Single submitter ⚠
  • p.Arg584Ser Single submitter ⚠
  • p.Arg73Pro Single submitter ⚠
  • p.Arg87His Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Arg8His Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Asn132Ile Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Asn296His Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Asn586Asp Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Asn71Lys Single submitter ⚠
  • p.Asp169Asn Single submitter ⚠
  • p.Asp220Gly Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Asp245Asn Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Asp253del Single submitter progressive myoclonic epilepsy type 9
  • p.Asp297del Single submitter microcephaly 27, primary, autosomal dominant
  • p.Asp347Glu Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Asp602Asn Single submitter ⚠
  • p.Asp609Tyr Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Gln12Pro Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Gln146Arg Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Gln213Arg Single submitter ⚠
  • p.Gln249Lys Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Gln258Ter Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Gln280His Single submitter ⚠
  • p.Gln283Glu Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Gln369Arg Single submitter ⚠
  • p.Gln45Ter Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Gln466His Single submitter ⚠
  • p.Gln506Glu Single submitter ⚠
  • p.Gln527His Single submitter ⚠
  • p.Glu113Gly Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Glu130Lys Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Glu153Lys Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Glu199Gly Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Glu229Asp Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Glu238Lys Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Glu238Val Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Glu243Gly Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Glu279Val Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Glu306Ter Single submitter
  • p.Glu339Val Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Glu345Asp Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Glu400Ter Single submitter lipodystrophy, partial, acquired, susceptibility to
  • p.Glu442Asp Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Glu477Lys Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Glu478Ala Single submitter ⚠
  • p.Glu478Asp Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Glu482Lys Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Glu49Asp Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Glu585Ala Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Glu585Asp Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Glu587Ala Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Glu595del Single submitter progressive myoclonic epilepsy type 9
  • p.Glu600Lys Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Glu97Lys Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Gly140Ser Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Gly190Arg Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Gly344Arg Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Gly423Cys Single submitter ⚠
  • p.Gly423Ser Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Gly423Val Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Gly429Arg Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Gly432Ser Single submitter ⚠
  • p.Gly446Asp Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Gly446Ser Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Gly448Ser Single submitter ⚠
  • p.Gly457Asp Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Gly457Ser Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Gly499Val Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Gly510Trp Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Gly526Ser Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Gly535Asp Single submitter ⚠
  • p.Gly535Ser Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Gly550Arg Single submitter LMNB2-related disorder ⚠
  • p.Gly569Asp Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Gly608Arg Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Gly616Val Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Gly91Asp Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.His540fs Single submitter progressive myoclonic epilepsy type 9
  • p.His59Gln Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Ile388Ser Single submitter microcephaly 27, primary, autosomal dominant ⚠
  • p.Ile479Met Single submitter ⚠
  • p.Ile522Val Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Leu152Met Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Leu167Val Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Leu173Met Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Leu198Met Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Leu25Val Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Leu314Met Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Leu317Phe Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Leu425Phe Single submitter ⚠
  • p.Leu53Phe Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Leu76Val Single submitter ⚠
  • p.Leu95Arg Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Lys186Met Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Lys223Asn Single submitter ⚠
  • p.Lys285Arg Single submitter ⚠
  • p.Lys326Glu Single submitter ⚠
  • p.Lys381Gln Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Lys484Gln Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Lys489Asn Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Lys494Thr Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Lys549Asn Single submitter ⚠
  • p.Met312Val Single submitter ⚠
  • p.Met342Ile Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Met352Lys Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Met386Val Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Met574Leu Single submitter ⚠
  • p.Met574Val Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Met620Thr Single submitter ⚠
  • p.Pro38Leu Single submitter ⚠
  • p.Pro3Leu Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Pro406Thr Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Pro542Thr Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Pro543Arg Single submitter ⚠
  • p.Pro610Leu Single submitter ⚠
  • p.Pro6Ala Single submitter ⚠
  • p.Pro6Ser Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Ser159Arg Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Ser168Asn Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Ser246Gly Single submitter ⚠
  • p.Ser288Asn Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Ser301Ile Single submitter ⚠
  • p.Ser318Ile Single submitter ⚠
  • p.Ser322Phe Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Ser407Thr Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Ser410Leu Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Ser415Leu Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Ser419Trp Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Ser42Leu Single submitter ⚠
  • p.Ser434Arg Single submitter ⚠
  • p.Ser447Gly Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Ser450Arg Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Ser471Leu Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Ser473Gly Single submitter ⚠
  • p.Ser541Arg Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Ser544fs Single submitter
  • p.Ser553Arg Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Ser553Ile Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Ser5Asn Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Ser79Leu Single submitter neurodevelopmental disorder ⚠
  • p.Ser98Leu Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Thr202Met Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Thr281Ile Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Thr34Met Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Thr34Pro Single submitter ⚠
  • p.Thr361Met Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Thr418Ile Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Thr418Pro Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Thr454Arg Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Thr456Met Single submitter ⚠
  • p.Thr530Met Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Thr545Met Single submitter lipodystrophy, partial, acquired, susceptibility to ⚠
  • p.Thr556Met Single submitter ⚠
  • p.Thr576Ala Single submitter ⚠
  • p.Thr612Ile Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Thr86Met Single submitter progressive myoclonic epilepsy type 9 ⚠
  • p.Tyr319His Single submitter progressive myoclonic epilepsy type 9 ⚠