Sugi Variant

Sugi Variant/QARS1

QARS1 — 989 ClinVar variants

All ClinVar germline QARS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 368 flagged for review →

37 Pathogenic · 5 Pathogenic/Likely pathogenic · 23 Likely pathogenic · 29 Conflicting · 17 Benign · 12 Benign/Likely benign · 449 Likely benign · 417 Uncertain significance

Full QARS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 368

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 15

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

Predictors lean, ClinVar uncertain 263

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 263

Predictors split 90

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

All QARS1 variants

Pathogenic 37

  • p.Arg463Ter Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Asp337fs Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.His426fs Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Leu455fs Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Arg195_Leu196insTer Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Arg361Ter Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Arg538fs Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Arg567Ter Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Arg62Ter Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Arg694Ter Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Gln136fs Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Gln172Ter Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Gln263fs Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Gln341Ter Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Gln545fs Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Gln697Ter Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Gln86fs Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Glu227fs Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Glu399fs Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Glu449Ter Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.His359fs Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Leu148fs Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Leu553fs Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Leu661fs Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Lys188fs Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Lys496Ter Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Met1Ile Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Met1Thr Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Phe468fs Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Pro704fs Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Thr118fs Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Thr564fs Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Trp324Ter Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Trp632Ter Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Tyr142Ter Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Tyr467Ter Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Val644fs Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome

Pathogenic/Likely pathogenic 5

  • p.Arg515Trp Multiple submitters intellectual disability, autosomal dominant 43
  • p.Arg523Ter Multiple submitters QARS-related disorders
  • p.Gly45Val Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Trp159Ter Multiple submitters QARS-related disorders
  • p.Tyr484fs Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome

Likely pathogenic 23

  • c.1164+1G>C Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1758+1G>T Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1526+1G>A Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1527-2A>G Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1614+2T>C Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1758+1G>C Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1759-2A>G Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.2084+1G>A Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.2084+1G>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.2084+2_2084+3del Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.2085-2A>G Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.2085-3C>A Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.376-1G>A Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.570+1G>A Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.631+1G>A Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.631+1G>C Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.787_789+3del Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.789+1G>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Glu108Ter Single submitter
  • p.Gly178Val Single submitter
  • p.His442fs Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Tyr438Ter Single submitter
  • p.Tyr57His Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠

Conflicting classifications of pathogenicity 29

  • c.1389-3C>A Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1615-2A>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1759-13T>A Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.632-10dup Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Ala462Val Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Ala77Thr Single submitter Inborn genetic diseases ⚠
  • p.Arg134Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg265Cys Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Arg265His Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Arg378Cys Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Arg403Trp Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Arg419Ter Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Arg509Trp Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Arg515Gln Single submitter ⚠
  • p.Arg524Trp Single submitter ⚠
  • p.Arg567Gln Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Asn295Ser Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Asp106Asn Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Asp430fs Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Asp739Asn Single submitter Inborn genetic diseases ⚠
  • p.Gln255= Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Gly353Val Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Leu386= Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Lys163Glu Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Pro708Leu Single submitter Inborn genetic diseases ⚠
  • p.Ser587Phe Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Tyr477Cys Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Val476Ile Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Val493= Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome

Benign 17

  • c.1615-17C>G Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1957-19C>G Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1957-48G>C Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.517-61C>T Multiple submitters
  • c.632-74C>T Multiple submitters
  • c.977-13C>A Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Arg225Trp Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Gln545= Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.His133= Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Leu55= Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Tyr338= Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1056-5dup Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.118-12del Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1957-14dup Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.265+43C>T Single submitter
  • c.375+14del Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.790-10del Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome

Benign/Likely benign 12

  • c.1055+10G>C Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1295+13T>C Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1295+20G>C Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1388+7G>A Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1758+17_1758+18del Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.2152-11C>G Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.877-17T>C Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Asn285Ser Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Glu624Gln Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Glu688= Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Pro514= Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Val557= Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome

Likely benign 449

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

  • c.1056-13C>T Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.118-12C>T Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.118-13C>T Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.118-20C>T Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.118-5C>T Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1295+7G>A Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1388+9G>T Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1527-18C>T Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1615-9T>C Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1759-13_1759-7del Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1863+10G>C Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1863+14G>A Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1863+18A>C Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1864-15A>G Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1957-10C>A Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1957-14C>T Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1957-22_1957-20del Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1957-9C>T Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.2151+11G>T Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.2151+13G>C Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.266-15G>A Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.266-17G>A Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.451+11C>T Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.451+18C>T Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.451+19G>A Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.452-10A>G Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.516+13C>A Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.570+16G>T Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.632-13T>C Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.632-20C>T Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.632-8C>A Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.703+17A>T Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.704-14T>C Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.704-5G>T Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.789+63C>T Multiple submitters
  • c.790-14C>T Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.876+10T>C Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.877-15G>A Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.977-18dup Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.-21T>C Multiple submitters
  • p.Ala3= Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Ala31= Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Ala323= Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Ala344= Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Ala400= Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Ala609= Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Arg132Thr Multiple submitters Inborn genetic diseases
  • p.Arg576= Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Asp320= Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Asp724= Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Glu310= Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Ile165= Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Ile81= Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Leu349= Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Leu553= Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Leu59= Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Leu99= Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Phe107= Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Phe231= Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Pro135= Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Pro247= Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Pro374= Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Pro550= Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Pro708= Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Ser466= Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Thr203= Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Thr240= Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Thr260= Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Thr641= Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1055+11G>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1055+15A>G Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1055+20G>A Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1055+7C>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1055+8C>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1056-10T>C Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1056-11C>A Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1056-12G>A Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1056-13C>G Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1056-15A>G Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1056-16C>A Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1056-16C>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1056-17dup Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1056-20C>G Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1056-7C>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1164+11A>G Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1164+17G>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1164+20T>C Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1165-17G>A Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1165-8C>G Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.118-10del Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.118-11T>C Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.118-14C>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.118-15C>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.118-20C>A Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.118-20C>G Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.118-6C>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1295+10G>A Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1295+12A>G Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1295+17G>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1295+18T>C Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1295+20G>A Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1296-11A>G Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1296-12T>C Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1296-14C>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1296-16T>C Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1296-19C>G Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1296-19C>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1296-20C>G Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1296-5C>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1388+17C>T Single submitter
  • c.1388+18A>G Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1388+18A>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1389-12C>A Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1389-14C>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1389-16T>C Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1389-20dup Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1526+11C>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1526+13G>A Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1526+13G>C Single submitter
  • c.1526+18G>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1526+8C>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1526+9G>A Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1527-14C>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1527-18C>A Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1527-7T>C Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1614+11G>A Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1615-17C>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1615-4C>G Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1615-7C>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1615-9dup Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1615-9T>G Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1758+13C>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1758+14A>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1758+7C>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1759-13T>C Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1759-4A>G Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1759-5T>G Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1759-9C>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1863+10G>A Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1863+10G>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1863+11G>A Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1863+13G>C Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1863+14G>T Single submitter
  • c.1863+17G>C Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1863+7T>C Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1864-10del Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1864-12T>A Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1864-14C>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1864-19C>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1864-5T>C Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1864-7T>C Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1864-9T>C Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1956+16A>G Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1956+25A>G Single submitter
  • c.1956+7G>A Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1957-10C>G Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1957-11C>A Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1957-11C>G Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1957-13C>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1957-14C>A Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1957-18C>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1957-20T>C Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1957-4C>G Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1957-5T>G Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1957-9C>A Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1957-9C>G Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.2084+12G>A Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.2084+14G>A Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.2084+22G>T Single submitter
  • c.2085-13A>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.2085-14C>G Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.2085-17C>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.2085-18C>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.2085-4G>A Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.2085-6C>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.2151+12A>G Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.2151+13G>A Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.2151+17_2151+18del Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.2151+8C>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.2151+9A>G Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.2152-10C>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.2152-12C>G Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.2152-18T>C Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.2152-19del Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.2152-20C>A Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.2152-20C>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.2152-7C>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.2152-9T>C Single submitter
  • c.2277+17A>G Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.2277+18C>A Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.2277+9C>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.2278-13C>G Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.2278-21_2278-19dup Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.2278-40G>A Single submitter
  • c.2278-4C>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.265+10C>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.265+14C>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.265+18C>A Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.265+19C>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.265+7C>A Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.265+7C>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.266-18C>G Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.266-18C>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.266-20C>G Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.375+13C>G Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.375+13C>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.375+8T>G Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.376-10C>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.376-15T>C Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.376-19A>C Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.376-20C>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.451+10G>A Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.451+10G>C Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.451+15G>C Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.451+15G>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.451+8G>A Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.452-19C>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.452-20C>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.452-4C>A Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.452-7C>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.452-8G>A Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.452-8G>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.516+15C>G Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.516+16T>C Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.516+215T>A Single submitter
  • c.516+30C>A Single submitter
  • c.516+7G>A Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.517-214C>T Single submitter
  • c.570+10G>A Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.570+10G>C Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.570+14T>C Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.570+17C>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.571-11G>A Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.571-13G>A Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.571-15T>G Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.571-17C>G Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.571-17C>T Single submitter
  • c.571-4T>C Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.571-8T>G Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.631+16C>G Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.631+18C>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.631+7A>C Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.631+8G>C Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.632-11G>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.632-13T>G Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.632-17T>C Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.632-4A>G Single submitter
  • c.632-6C>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.632-8C>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.703+10C>G Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.703+12T>C Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.703+12T>G Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.703+15C>G Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.703+15C>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.703+7G>A Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.704-10G>C Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.704-19C>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.704-4G>A Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.789+11A>G Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.789+13G>A Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.789+3G>A Single submitter
  • c.790-12C>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.790-13C>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.790-14C>G Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.790-17C>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.790-9T>C Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.876+17G>A Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.876+18G>C Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.876+19A>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.876+9G>C Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.877-12C>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.877-4C>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.877-5C>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.877-6T>C Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.976+11G>C Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.976+12G>A Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.976+17G>C Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.977-13_977-10del Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.977-17G>A Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.977-4_977-3dup Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.977-4C>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.977-6C>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.-20T>C Single submitter
  • c.-2C>T Single submitter
  • c.-32C>A Single submitter
  • p.Ala128= Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Ala183= Single submitter
  • p.Ala2= Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Ala335= Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Ala346= Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Ala492= Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Ala521= Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Ala537= Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Ala565= Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Ala568= Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Ala60= Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Ala668= Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Ala676= Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Ala718= Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Ala90= Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome

Uncertain significance 417

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

  • c.1614+3A>G Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.2085-12C>G Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.2085-3C>T Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.451+4A>C Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Ala204Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala204Val Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Ala2Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala335Val Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Ala473Val Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Ala521Thr Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Ala544Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala609Thr Multiple submitters ⚠
  • p.Ala725Val Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Arg134Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg154Gln Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Arg195Gln Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Arg201Gln Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Arg201Trp Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Arg225Gln Multiple submitters ⚠
  • p.Arg267Gln Multiple submitters QARS1-related disorder ⚠
  • p.Arg267Trp Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Arg301Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg351Cys Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Arg378His Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Arg427Cys Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Arg427His Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Arg486Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg523Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg524Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg525Trp Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Arg538Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg538Trp Multiple submitters Inborn genetic diseases
  • p.Arg558Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg558His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg616Lys Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Arg629His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg666Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Arg667Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg67Gln Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Arg690Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg690His Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Arg745His Multiple submitters Inborn genetic diseases ⚠
  • p.Asn273Ser Multiple submitters Inborn genetic diseases
  • p.Asn273Thr Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Asn581Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Asn594Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Asp215Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Asp430Asn Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Asp439Asn Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Asp754Gly Multiple submitters Inborn genetic diseases
  • p.Cys536Ser Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Gln42Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Glu140Gln Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Glu140Gly Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Glu186Gly Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Glu222Ala Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Glu397Gln Multiple submitters Inborn genetic diseases
  • p.Glu399Lys Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Glu459Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu706Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Gly261Arg Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Gly326Asp Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Gly362Val Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Gly602Ala Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Gly773Arg Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.His490Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Ile116Val Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Ile278Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile48Thr Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Ile579Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile611Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ile611Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Leu185Met Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Leu257Met Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Leu354Val Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Leu553Gln Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Leu63Val Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Leu695Val Multiple submitters Inborn genetic diseases
  • p.Leu99Phe Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Leu9Val Multiple submitters Inborn genetic diseases ⚠
  • p.Lys233Asn Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Lys233Gln Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Lys331Arg Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Lys431Thr Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Lys50Arg Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Lys740Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Lys774Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Met390Ile Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Phe107Leu Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Phe286Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Phe299Leu Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Phe387Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Phe608Val Multiple submitters Inborn genetic diseases ⚠
  • p.Phe696Cys Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Phe741Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro241Leu Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Pro269Leu Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Pro424Ala Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Pro529Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro737Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Ser660Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ser713Arg Multiple submitters
  • p.Thr203Met Multiple submitters Inborn genetic diseases ⚠
  • p.Thr316Met Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Thr423Ala Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Thr43Ser Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Thr47Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Thr520Met Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Thr580Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Thr765fs Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Tyr290Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr338Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr435Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr643Cys Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Tyr692Cys Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Val113Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val416Ile Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Val571Ala Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Val592Leu Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Val644Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Val658Leu Multiple submitters diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Val751Met Multiple submitters Inborn genetic diseases ⚠
  • c.1164+3G>A Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1164+6G>A Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1164+6G>C Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.118-3C>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1389-11_1389-10del Single submitter QARS1-related disorder
  • c.1389-3C>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1527-6C>G Single submitter
  • c.1758+4G>A Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1864-3T>G Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.1864-7T>G Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.2084+19G>A Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.2085-7G>T Single submitter
  • c.2277+16_2277+17delinsAC Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.2277+1G>C Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.2277+2T>C Single submitter
  • c.2277+3G>A Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.266-9_266-6del Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.451+5G>C Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.452-13C>T Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.570+2_570+4dup Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.570+5G>A Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.571-3C>G Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.703+6T>C Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.790-2_806dup Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.877-9C>G Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • c.977-3C>G Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Ala128Val Single submitter Inborn genetic diseases ⚠
  • p.Ala228Gly Single submitter Inborn genetic diseases ⚠
  • p.Ala2Glu Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Ala317Val Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Ala335Gly Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Ala344Val Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Ala346Thr Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Ala3Val Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Ala400Val Single submitter ⚠
  • p.Ala473Pro Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Ala51Pro Single submitter ⚠
  • p.Ala531Thr Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Ala555Gly Single submitter ⚠
  • p.Ala555Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala565Val Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Ala609Val Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Ala718Pro Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Ala718Val Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Ala725Pro Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Arg109Gln Single submitter ⚠
  • p.Arg141Cys Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Arg141His Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Arg154Leu Single submitter Inborn genetic diseases ⚠
  • p.Arg154Trp Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Arg265Ser Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Arg301His Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Arg301Ser Single submitter ⚠
  • p.Arg351His Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Arg361Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg378Gly Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Arg391His Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Arg403Gln Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Arg419Gln Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Arg463Gln Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Arg464Cys Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Arg486His Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Arg509Gln Single submitter ⚠
  • p.Arg524Leu Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Arg525Gln Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Arg538Leu Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Arg558Ser Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Arg576Gln Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Arg576Trp Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Arg629Cys Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Arg629Leu Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Arg62Gln Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Arg62Gly Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Arg64Thr Single submitter ⚠
  • p.Arg667Gln Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Arg67Gly Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Arg68Gly Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Arg694Gln Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Arg745Cys Single submitter ⚠
  • p.Arg764Gln Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Arg764Ter Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Asn131Tyr Single submitter Inborn genetic diseases ⚠
  • p.Asn210Lys Single submitter ⚠
  • p.Asn287Ser Single submitter ⚠
  • p.Asn294Lys Single submitter Inborn genetic diseases ⚠
  • p.Asn295Thr Single submitter ⚠
  • p.Asn488Ile Single submitter Inborn genetic diseases ⚠
  • p.Asn594Ser Single submitter ⚠
  • p.Asp206Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp410Gly Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Asp430Tyr Single submitter ⚠
  • p.Asp475His Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Asp510Asn Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Asp563Asn Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Asp65Val Single submitter Inborn genetic diseases ⚠
  • p.Asp669His Single submitter Inborn genetic diseases ⚠
  • p.Asp703His Single submitter Inborn genetic diseases ⚠
  • p.Asp714Glu Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Asp724His Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Asp739Tyr Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Asp752Tyr Single submitter ⚠
  • p.Asp754Ala Single submitter Inborn genetic diseases
  • p.Asp771Ala Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Asp771Asn Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Cys358Phe Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Cys556Tyr Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Cys665Tyr Single submitter Inborn genetic diseases ⚠
  • p.Gln223Arg Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Gln742His Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Gln757Arg Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Glu152Ala Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Glu209Lys Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Glu308Ala Single submitter
  • p.Glu364Gln Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Glu382del Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Glu388Asp Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Glu388Gln Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Glu388Gly Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Glu624Asp Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Glu702Lys Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Glu84_Pro85insLys Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Glu84delinsLysLys Single submitter
  • p.Glu84Lys Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Glu92Gln Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Gly162Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly226Arg Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Gly242Asp Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Gly242Ser Single submitter ⚠
  • p.Gly279Arg Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Gly367Ser Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Gly411Ser Single submitter ⚠
  • p.Gly429Glu Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Gly485Arg Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Gly626Arg Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Gly642Ala Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Gly653Asp Single submitter ⚠
  • p.Gly653Val Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Gly656Ala Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.His232Arg Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.His248Tyr Single submitter Inborn genetic diseases ⚠
  • p.His277Tyr Single submitter Inborn genetic diseases ⚠
  • p.His280Arg Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.His280Leu Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.His425Arg Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.His425Leu Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.His426Asn Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.His551Tyr Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.His649Arg Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.His649Tyr Single submitter Inborn genetic diseases ⚠
  • p.His698Pro Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.His698Tyr Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Ile130Val Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Ile278Thr Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Ile284Ser Single submitter ⚠
  • p.Ile297Val Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Ile318Asn Single submitter ⚠
  • p.Ile350Ser Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Ile434Thr Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Ile448Val Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Ile532Met Single submitter
  • p.Ile578Val Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Ile590Met Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Ile614Thr Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Ile76Met Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Ile76Val Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Leu137Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu276Pro Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Leu325= Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • p.Leu365Pro Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Leu386Phe Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Leu44Met Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Leu44Pro Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Leu474Val Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Leu4Pro Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Leu4Val Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Leu500Val Single submitter Inborn genetic diseases ⚠
  • p.Leu502Arg Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠
  • p.Leu552Val Single submitter diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ⚠