Sugi Variant

Sugi Variant/SYN1

SYN1 — 624 ClinVar variants

All ClinVar germline SYN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 284 flagged for review →

45 Pathogenic · 5 Pathogenic/Likely pathogenic · 18 Likely pathogenic · 30 Conflicting · 12 Benign · 8 Benign/Likely benign · 206 Likely benign · 300 Uncertain significance

Full SYN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 284

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 16

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

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 205

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 205

Predictors split 61

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

All SYN1 variants

Pathogenic 45

  • p.Arg234Ter Multiple submitters intellectual disability, X-linked 50
  • p.Arg420fs Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Arg422Ter Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Asn334fs Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Gln483Ter Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Gln555Ter Multiple submitters SYN1-related disorder
  • c.980+43_981del Single submitter intellectual disability, X-linked 50
  • p.Ala441fs Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Ala550fs Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Ala577fs Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Ala650fs Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Ala83fs Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Arg186fs Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Arg430fs Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Asn19fs Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Asp382fs Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Gln145fs Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Gln231Ter Single submitter
  • p.Gln421fs Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Gln506Ter Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Gln532Ter Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Gln562fs Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Glu257Ter Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Gly501fs Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Gly599fs Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Gly74fs Single submitter intellectual disability, X-linked 50
  • p.Lys378fs Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Lys403fs Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Phe13fs Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Pro33fs Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Pro437fs Single submitter Inborn genetic diseases
  • p.Pro463fs Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Pro552fs Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Ser390fs Single submitter epilepsy
  • p.Ser96fs Single submitter
  • p.Thr601fs Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Trp126Ter Single submitter
  • p.Tyr326fs Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.527+1G>T No assertion criteria epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Gln423fs No assertion criteria epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Gln482Ter No assertion criteria epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Gly41fs No assertion criteria epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Pro470fs No assertion criteria epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Ser79Trp No assertion criteria intellectual disability, X-linked 50
  • p.Trp356Ter No assertion criteria epilepsy, X-linked 1, with variable learning disabilities and behavior disorders

Pathogenic/Likely pathogenic 5

  • c.528-2A>T Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Gln249Ter Multiple submitters intellectual disability
  • p.Glu121Ter Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Leu481fs Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Met1fs Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders

Likely pathogenic 18

  • c.838-2A>G Multiple submitters SYN1-related disorder
  • p.Arg420Gln Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • c.1158+1G>A Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.1158+1G>T Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.1159-2A>G Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.378-1G>A Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.684+1G>T Single submitter SYN1-related disorder
  • c.685-2A>G Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Ala676fs Single submitter
  • p.Cys370Ter Single submitter
  • p.Gln206Ter Single submitter intellectual disability, X-linked 50
  • p.Gln491fs Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Gly105fs Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Gly596fs Single submitter SYN1-related disorder
  • p.Ile369fs Single submitter SYN1-related disorder
  • p.Lys318Asn Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Pro655fs Single submitter
  • p.Tyr21fs Single submitter

Conflicting classifications of pathogenicity 30

  • c.1982+10C>A Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.435+10G>A Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Ala106Ser Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Ala441Ser Single submitter History of neurodevelopmental disorder ⚠
  • p.Ala523= Single submitter Inborn genetic diseases
  • p.Ala550Thr Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Ala577= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Ala676= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Arg169Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg176Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg194Cys Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Arg315His Single submitter Inborn genetic diseases ⚠
  • p.Arg420Trp Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Asp400Asn Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Gln458Glu Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Gln491del Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Gly107Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly539Ser Single submitter Inborn genetic diseases ⚠
  • p.His433Tyr Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Ile369= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Leu442Pro Single submitter Inborn genetic diseases ⚠
  • p.Pro122Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro509Ser Single submitter Inborn genetic diseases ⚠
  • p.Ser551fs Single submitter intellectual disability, X-linked 50 ⚠
  • p.Thr124Ile Single submitter Inborn genetic diseases ⚠
  • p.Thr329Met Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Thr448Ser Single submitter Inborn genetic diseases ⚠
  • p.Thr567Ala Single submitter History of neurodevelopmental disorder ⚠
  • p.Val175Met Single submitter Inborn genetic diseases ⚠
  • p.Val282Ile Single submitter Inborn genetic diseases ⚠

Benign 12

  • c.1056-14_1056-8del Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.528-19C>T Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.775-8085A>G Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.838-8T>G Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Ala304= Multiple submitters History of neurodevelopmental disorder
  • p.Ala51Gly Multiple submitters History of neurodevelopmental disorder
  • p.Asn170= Multiple submitters intellectual disability, X-linked 50
  • c.1159-3del Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.774+85del Single submitter
  • c.980+20C>A Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Gly333= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Thr48= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders

Benign/Likely benign 8

  • c.1055+12G>A Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.980+14C>T Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.981-19C>T Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Ala342= Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Cys370= Multiple submitters Inborn genetic diseases
  • p.Lys142= Multiple submitters History of neurodevelopmental disorder
  • p.Pro485= Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Pro656= Multiple submitters Inborn genetic diseases

Likely benign 206

  • c.1159-7C>T Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.436-4C>G Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.527+18A>G Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.528-7A>G Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Ala374= Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Ala457Pro Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Asn195= Multiple submitters Inborn genetic diseases
  • p.Asp313= Multiple submitters History of neurodevelopmental disorder
  • p.Gln421= Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Gln475= Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Gln606= Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Gly36= Multiple submitters Inborn genetic diseases
  • p.Gly571= Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.His272= Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.His657= Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Ile210= Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Ile291= Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Ile406= Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Leu246= Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Leu355= Multiple submitters Inborn genetic diseases
  • p.Pro623= Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Pro63= Multiple submitters Inborn genetic diseases
  • p.Ser568= Multiple submitters Inborn genetic diseases
  • p.Thr329= Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Thr567= Multiple submitters Inborn genetic diseases
  • c.1055+10C>T Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.1055+11C>T Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.1055+17C>G Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.1055+9C>T Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.1056-11del Single submitter
  • c.1056-12T>C Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.1056-14C>T Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.1056-20C>T Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.1056-7T>G Single submitter
  • c.1158+15G>T Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.1158+16G>A Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.1158+17G>T Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.1159-10C>T Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.1159-15C>T Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.1159-18A>G Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.1159-20G>A Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.1159-3C>T Single submitter
  • c.1159-4C>T Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.1305+10C>G Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.1305+13G>C Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.1305+14C>T Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.1305+18G>A Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.1306-18T>C Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.1306-20G>A Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.1306-5C>T Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.1306-6C>T Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.1306-9C>T Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.1393+11G>C Single submitter
  • c.1393+17C>T Single submitter
  • c.1394-10T>G Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.1394-13C>T Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.1394-18_1394-15del Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.1394-7C>A Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.1394-7C>T Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.1982+15A>G Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.1982+8_1982+20delinsT Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.1982+9_1982+20del Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.377+19C>T Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.378-14T>C Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.378-16T>C Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.378-18G>A Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.378-19T>A Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.436-12T>C Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.527+11G>T Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.527+9A>T Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.528-12C>T Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.684+13A>C Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.684+16G>A Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.684+17G>T Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.685-11G>T Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.685-14C>A Single submitter
  • c.685-20A>G Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.685-4A>G Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.837+15G>A Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.837+19T>C Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.838-12G>A Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.838-13C>T Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.838-4A>G Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.838-7T>G Single submitter
  • c.981-18T>C Single submitter
  • p.Ala127= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Ala146= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Ala193= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Ala417= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Ala457= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Ala519= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Ala537= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Ala598= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Ala607= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Ala637= Single submitter
  • p.Ala648= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Ala650= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Ala652= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Ala83= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Ala92= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Arg194= Single submitter
  • p.Arg315= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Arg422= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Arg446= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Arg460= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Arg547= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Arg6= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Arg679Lys Single submitter Inborn genetic diseases
  • p.Asn412= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Asp120Glu Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Asp248= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Asp290= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Asp379= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Gln458= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Gln588= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Glu144= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Glu147= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Glu242= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Gly101= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Gly171= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Gly240= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Gly445= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Gly454= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Gly466= Single submitter
  • p.Gly47= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Gly530Asp Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Gly559= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Gly56= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Gly579= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Gly653= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Gly72= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.His188= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.His217= Single submitter
  • p.His383= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Ile308= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Leu117= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Leu178= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Leu216= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Leu297= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Leu405= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Leu409= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Leu442= Single submitter Inborn genetic diseases
  • p.Leu481= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Lys299= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Lys336= Single submitter
  • p.Lys378= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Lys413= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Lys85= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Phe161= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Pro122= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Pro18= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Pro180= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Pro226= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Pro253= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Pro28= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Pro30= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Pro34= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Pro393= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Pro40= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Pro428= Single submitter
  • p.Pro437= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Pro44= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Pro452= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Pro461= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Pro463= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Pro468= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Pro470= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Pro479= Single submitter
  • p.Pro505Ser Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Pro518= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Pro543= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Pro544= Single submitter
  • p.Pro549= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Pro552= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Pro554Ser Single submitter Inborn genetic diseases
  • p.Pro560= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Pro561= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Pro59= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Pro594= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Pro595= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Pro597= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Pro609= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Pro628= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Pro640= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Ser149= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Ser215= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Ser260= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Ser39= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Ser605= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Ser624= Single submitter
  • p.Ser71= Single submitter
  • p.Ser78= Single submitter
  • p.Thr263= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Thr300= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Thr359= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Thr50= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Thr526= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Thr564= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Thr617= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Thr649= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Tyr252= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Val154= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Val295= Single submitter Inborn genetic diseases
  • p.Asp150Glu No assertion criteria
  • p.Gly102= No assertion criteria SYN1-related disorder
  • p.Val569= No assertion criteria SYN1-related disorder

Uncertain significance 300

  • p.Ala112Ser Multiple submitters ⚠
  • p.Ala441Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Ala441Thr Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Ala542Thr Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Ala558Val Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Ala607Gly Multiple submitters SYN1-related disorder ⚠
  • p.Ala60Val Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Ala648Val Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Arg114Gly Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Arg169Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg186His Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Arg420Gly Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Arg424Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg556Leu Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Arg5Gln Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Asn16Ser Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Cys223Ser Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Cys370Trp Multiple submitters intellectual disability, X-linked 50 ⚠
  • p.Gln423His Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Glu144Lys Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Glu147Lys Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Glu305Lys Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Glu401Val Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Gly102Ser Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Gly320Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Gly440Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gly47Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gly571Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Gly608Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Gly654Glu Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.His38_Ala42del Multiple submitters Inborn genetic diseases
  • p.His657Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Ile384Val Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Ile395Val Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Leu205_Gln206insLeu Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Lys318Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Pro30Ala Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Pro452Ser Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Pro472Ser Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Pro479Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Pro487Leu Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Pro63Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Pro655Leu Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Pro656Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro656Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro658Ser Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Ser212Asn Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Ser449Thr Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Ser494Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Ser553Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Ser62Phe Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Thr241Ile Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Thr300Met Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Thr329Lys Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Thr359Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Thr48Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Thr526Ile Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Tyr198His Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Tyr207His Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Val295Met Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Val316Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val57Ile Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Val84Ile Multiple submitters epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • c.1055+5G>A Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.1056-10_1056-8del Single submitter
  • c.1158+5G>A Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.1158+8C>T Single submitter intellectual disability, X-linked 50
  • c.1159-6C>T Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.1305+6G>T Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.1982+8G>T Single submitter
  • c.377+15C>T Single submitter
  • c.377+4A>T Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.377+5G>A Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.377+6C>A Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.377+6C>G Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.433_435+7dup Single submitter Inborn genetic diseases
  • c.528-5A>G Single submitter
  • c.684+5_684+8del Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.685-3T>C Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.774+3G>A Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.775-3C>T Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • c.838-3C>T Single submitter
  • c.981-7C>G Single submitter
  • p.Ala106Thr Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Ala106Val Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Ala155Thr Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Ala189Thr Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Ala304Thr Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Ala342Glu Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Ala342Val Single submitter ⚠
  • p.Ala374Val Single submitter intellectual disability, X-linked 50
  • p.Ala457Asp Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Ala514Thr Single submitter ⚠
  • p.Ala519Val Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Ala523Val Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Ala537Thr Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Ala545Glu Single submitter ⚠
  • p.Ala546Thr Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Ala550Phe Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Ala573Val Single submitter ⚠
  • p.Ala580Val Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Ala604Val Single submitter Inborn genetic diseases ⚠
  • p.Ala607Glu Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Ala607Val Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Ala629Ser Single submitter ⚠
  • p.Ala652Thr Single submitter ⚠
  • p.Ala676Ser Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Ala83Val Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Ala91Val Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Arg176Gln Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Arg186Cys Single submitter ⚠
  • p.Arg194His Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Arg194Leu Single submitter Inborn genetic diseases ⚠
  • p.Arg199His Single submitter ⚠
  • p.Arg234Gln Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Arg27Cys Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Arg422Gln Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Arg422Pro Single submitter ⚠
  • p.Arg424Gln Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Arg507Leu Single submitter neurodevelopmental disorder ⚠
  • p.Arg507Ser Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Arg531His Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Arg534Trp Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Arg547His Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Arg547Ser Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Arg565Cys Single submitter ⚠
  • p.Arg565Gly Single submitter ⚠
  • p.Arg587Cys Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Arg5Gly Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Arg612Cys Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Arg622Trp Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Arg6Cys Single submitter ⚠
  • p.Asn158His Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Asn158Ser Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Asn170Tyr Single submitter ⚠
  • p.Asn19Asp Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Asn338Ser Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Asp10Asn Single submitter ⚠
  • p.Asp164Asn Single submitter ⚠
  • p.Asp181Tyr Single submitter ⚠
  • p.Asp287Ala Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Asp309Asn Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Asp358Asn Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Asp400Glu Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Gln145= Single submitter intellectual disability, X-linked 50
  • p.Gln317Arg Single submitter Inborn genetic diseases ⚠
  • p.Gln423_Arg424delinsHisTrp Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Gln464His Single submitter ⚠
  • p.Gln483Pro Single submitter Inborn genetic diseases ⚠
  • p.Gln555His Single submitter ⚠
  • p.Gln585Arg Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Gln619Lys Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Gln635His Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Gln642Arg Single submitter ⚠
  • p.Gln659Arg Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Glu166Gly Single submitter ⚠
  • p.Gly100Ser Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Gly101Cys Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Gly104Arg Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Gly110Glu Single submitter Inborn genetic diseases ⚠
  • p.Gly196Arg Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Gly278Ser Single submitter ⚠
  • p.Gly365Arg Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Gly36Ser Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Gly41Arg Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Gly431Val Single submitter ⚠
  • p.Gly440Glu Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Gly466Asp Single submitter ⚠
  • p.Gly473Asp Single submitter ⚠
  • p.Gly478Arg Single submitter ⚠
  • p.Gly495Ser Single submitter ⚠
  • p.Gly497Glu Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Gly538= Single submitter
  • p.Gly541Arg Single submitter ⚠
  • p.Gly589Ser Single submitter ⚠
  • p.Gly596Val Single submitter ⚠
  • p.Gly69Ala Single submitter ⚠
  • p.Gly73Ala Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.His136Arg Single submitter ⚠
  • p.His136Tyr Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.His236Arg Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.His433Arg Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.His492Gln Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Ile135Met Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Ile135Thr Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Ile185Val Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Ile247Thr Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Ile319_Gln321del Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Ile319Val Single submitter
  • p.Ile395Thr Single submitter intellectual disability ⚠
  • p.Ile406Val Single submitter ⚠
  • p.Leu117Pro Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Leu205Gln Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Leu409Pro Single submitter ⚠
  • p.Leu444_Arg446delinsCys Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Leu444Val Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Leu682Phe Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Lys134Asn Single submitter Inborn genetic diseases ⚠
  • p.Lys142Ile Single submitter Inborn genetic diseases ⚠
  • p.Lys173_Val175del Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Lys238Glu Single submitter Inborn genetic diseases ⚠
  • p.Lys281= Single submitter
  • p.Lys318Thr Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Lys378Arg Single submitter ⚠
  • p.Lys403Glu Single submitter ⚠
  • p.Lys576Glu Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Met14Ile Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Met14Thr Single submitter SYN1-related disorder ⚠
  • p.Met22Lys Single submitter Inborn genetic diseases ⚠
  • p.Met22Val Single submitter Inborn genetic diseases ⚠
  • p.Met232Leu Single submitter SYN1-related disorder ⚠
  • p.Met232Val Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Met258Ile Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Met258Thr Single submitter ⚠
  • p.Met349Thr Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Met392Ile Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Met392Leu Single submitter ⚠
  • p.Phe13Cys Single submitter ⚠
  • p.Phe148Ser Single submitter ⚠
  • p.Pro180Leu Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Pro31Ser Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Pro33Gln Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Pro34Arg Single submitter Inborn genetic diseases ⚠
  • p.Pro34Leu Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Pro419Arg Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Pro437Gln Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Pro437Leu Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Pro452Leu Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Pro455Ser Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Pro455Thr Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Pro456Arg Single submitter ⚠
  • p.Pro46= Single submitter
  • p.Pro461Thr Single submitter ⚠
  • p.Pro480Leu Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Pro480Ser Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Pro498Leu Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Pro515Ala Single submitter ⚠
  • p.Pro515His Single submitter ⚠
  • p.Pro524Leu Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Pro543Ser Single submitter ⚠
  • p.Pro549Leu Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Pro552Ser Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Pro561Arg Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Pro561Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro572Gln Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Pro572Ser Single submitter ⚠
  • p.Pro574Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro575Leu Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Pro582Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro590Ser Single submitter ⚠
  • p.Pro59Arg Single submitter Inborn genetic diseases ⚠
  • p.Pro59Leu Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Pro600Leu Single submitter ⚠
  • p.Pro611Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro616Ser Single submitter ⚠
  • p.Pro675Ser Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Pro677Leu Single submitter ⚠
  • p.Ser113Ala Single submitter ⚠
  • p.Ser113Cys Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Ser113Phe Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Ser113Tyr Single submitter ⚠
  • p.Ser162Phe Single submitter Inborn genetic diseases ⚠
  • p.Ser162Pro Single submitter ⚠
  • p.Ser212Ile Single submitter Inborn genetic diseases ⚠
  • p.Ser390Tyr Single submitter Inborn genetic diseases ⚠
  • p.Ser502Cys Single submitter ⚠
  • p.Ser513Leu Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Ser605Arg Single submitter ⚠
  • p.Ser62Ala Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Ser641Gly Single submitter ⚠
  • p.Ser681= Single submitter
  • p.Ser681Arg Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Ser704= Single submitter
  • p.Ser78Leu Single submitter ⚠
  • p.Ser79Leu Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Thr359Met Single submitter ⚠
  • p.Thr436Ile Single submitter Inborn genetic diseases ⚠
  • p.Thr43Met Single submitter ⚠
  • p.Thr48Ser Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Thr613Pro Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Thr649Ile Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Thr87Asn Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Trp126Arg Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Tyr220Cys Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Tyr252Phe Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Tyr3_Leu4insTyr Single submitter
  • p.Tyr323Cys Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Tyr323His Single submitter intellectual disability, X-linked 50 ⚠
  • p.Val183Ala Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Val202Phe Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Val219Ile Single submitter ⚠
  • p.Val387= Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • p.Val410Leu Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Val410Met Single submitter epilepsy, X-linked 1, with variable learning disabilities and behavior disorders ⚠
  • p.Val644Leu Single submitter ⚠
  • c.1055+21_1055+23del No assertion criteria SYN1-related disorder
  • p.Met1Ile No assertion criteria SYN1-related disorder
  • p.Ser212Gly No assertion criteria SYN1-related disorder ⚠
  • p.Val569Ile No assertion criteria SYN1-related disorder ⚠
  • p.Val644Met No assertion criteria SYN1-related disorder ⚠