Sugi Variant

Sugi Variant/SOX11

SOX11 — 456 ClinVar variants

All ClinVar germline SOX11 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 181 flagged for review →

21 Pathogenic · 10 Pathogenic/Likely pathogenic · 58 Likely pathogenic · 29 Conflicting · 18 Benign · 5 Benign/Likely benign · 92 Likely benign · 223 Uncertain significance

Full SOX11 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 181

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 17

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

Predicted LoF vs a conflicting call 2

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 115

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 47

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

All SOX11 variants

Pathogenic 21

  • p.Ser264Ter Multiple submitters Inborn genetic diseases
  • p.Arg64Gly Single submitter
  • p.Arg64His Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Asn389fs Single submitter Inborn genetic diseases
  • p.Cys29Ter Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Gly306fs Single submitter
  • p.Gly384fs Single submitter
  • p.Gly84Arg Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Ile99Thr Single submitter
  • p.Lys50Asn Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Lys50Gln Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Ser129Ter Single submitter Inborn genetic diseases
  • p.Ser303Ter Single submitter hypogonadotropic hypogonadism
  • p.Ser345fs Single submitter hypogonadotropic hypogonadism
  • p.Ser393Ter Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Trp59Ter Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Tyr118Ser Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Tyr198Ter Single submitter
  • p.Cys219fs No assertion criteria Coffin-Siris syndrome 1
  • p.Ser60Pro No assertion criteria intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Trp429Ter No assertion criteria intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism

Pathogenic/Likely pathogenic 10

  • p.Ala102Glu Multiple submitters intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Ala102Val Multiple submitters intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Arg100Pro Multiple submitters intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Arg106Pro Multiple submitters intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Arg119Trp Multiple submitters Inborn genetic diseases
  • p.Arg51Gln Multiple submitters intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Gly84Asp Multiple submitters intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Met57Thr Multiple submitters intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Phe56Leu Multiple submitters intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Pro52Leu Multiple submitters intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism

Likely pathogenic 58

  • p.Arg51Gly Multiple submitters intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Arg64Cys Multiple submitters intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Arg64Pro Multiple submitters intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Glu234Ter Multiple submitters intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Pro114Ser Multiple submitters hypogonadotropic hypogonadism
  • p.Trp87Arg Multiple submitters intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Tyr118Cys Multiple submitters intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Ala385fs Single submitter
  • p.Arg121Trp Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Arg16fs Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Arg337Gly Single submitter
  • p.Arg51Leu Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Arg51Pro Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Arg64Leu Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Arg64Ser Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Asp112Gly Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Asp398fs Single submitter Inborn genetic diseases
  • p.Glu246Ter Single submitter
  • p.Glu296Ter Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Glu63Gln Single submitter Coffin-Siris syndrome 1
  • p.Gly214_Lys215insTer Single submitter SOX11-related disorder
  • p.Gly383fs Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Gly84Ser Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.His109Pro Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.His322fs Single submitter
  • p.His75Asp Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Ile49Asn Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Ile49Ser Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Lys108Glu Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Lys108Thr Single submitter
  • p.Lys171Ter Single submitter
  • p.Lys218fs Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Lys274Ter Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Lys88Glu Single submitter Inborn genetic diseases
  • p.Met53Arg Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Met53Ile Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Met53Thr Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Met53Val Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Met74Val Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Phe56Cys Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Phe98fs Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Pro114His Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Pro120His Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Pro120Leu Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Pro120Ser Single submitter
  • p.Pro120Thr Single submitter
  • p.Pro52Arg Single submitter
  • p.Pro52Gln Single submitter SOX11-related disorder
  • p.Ser366fs Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Ser406fs Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Ser71Pro Single submitter SOX11-related disorder
  • p.Ser80Phe Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Trp41Ter Single submitter SOX11-related disorder
  • p.Trp87Cys Single submitter
  • p.Tyr113His Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism ⚠
  • p.Tyr118His Single submitter Inborn genetic diseases
  • p.Asn54Asp No assertion criteria intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Lys50Glu No assertion criteria SOX11-related disorder

Conflicting classifications of pathogenicity 29

  • p.347SGSS[1] Single submitter Inborn genetic diseases
  • p.Ala180Thr Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism ⚠
  • p.Ala334Val Single submitter hypogonadotropic hypogonadism ⚠
  • p.Arg100Gln Single submitter hypogonadotropic hypogonadism ⚠
  • p.Arg119Pro Single submitter Coffin-Siris syndrome ⚠
  • p.Arg51Trp Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism ⚠
  • p.Asn317= Single submitter
  • p.Asn76Asp Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism ⚠
  • p.Asp190Tyr Single submitter Inborn genetic diseases ⚠
  • p.Asp196Glu Single submitter hypogonadotropic hypogonadism ⚠
  • p.Asp197His Single submitter Inborn genetic diseases
  • p.Asp231_Asp233del Single submitter
  • p.Asp233Asn Single submitter ⚠
  • p.Gln379fs Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism ⚠
  • p.Gln380Leu Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism ⚠
  • p.Glu11Ter Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism ⚠
  • p.Gly144Arg Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism ⚠
  • p.Gly153_Gly156del Single submitter Inborn genetic diseases
  • p.Gly210Cys Single submitter Inborn genetic diseases ⚠
  • p.Leu170= Single submitter
  • p.Leu237Val Single submitter ⚠
  • p.Lys161Asn Single submitter hypogonadotropic hypogonadism ⚠
  • p.Lys166Arg Single submitter Inborn genetic diseases ⚠
  • p.Ser208Leu Single submitter Inborn genetic diseases ⚠
  • p.Ser354Asn Single submitter SOX11-related disorder ⚠
  • p.Thr302Ile Single submitter ⚠
  • p.Trp59Arg Single submitter ⚠
  • p.Tyr198Cys Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism ⚠
  • p.Val220Met Single submitter hypogonadotropic hypogonadism ⚠

Benign 18

Benign/Likely benign 5

Likely benign 92

Uncertain significance 223

  • p.Ala134Ser Multiple submitters intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism ⚠
  • p.Ala176Glu Multiple submitters intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Ala186Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ala299Gly Multiple submitters ⚠
  • p.Arg298Leu Multiple submitters intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Glu234Gly Multiple submitters intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism ⚠
  • p.Gly168Arg Multiple submitters intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism ⚠
  • p.Gly183Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Gly214Ala Multiple submitters Inborn genetic diseases ⚠
  • p.His48Asp Multiple submitters intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism ⚠
  • p.His75= Multiple submitters
  • p.Leu235Met Multiple submitters Inborn genetic diseases ⚠
  • p.Phe369Leu Multiple submitters intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism ⚠
  • p.Ser12Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Ser141Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Ser287Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ser343Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Ser347Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Ser370Phe Multiple submitters intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Ser377Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Thr159Ile Multiple submitters intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism ⚠
  • p.104RL[3] Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.244DEE[1] Single submitter
  • p.350SSG[1] Single submitter
  • p.Ala10= Single submitter
  • p.Ala10Ser Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism ⚠
  • p.Ala134Gly Single submitter Inborn genetic diseases ⚠
  • p.Ala142Gly Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism ⚠
  • p.Ala172Val Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism ⚠
  • p.Ala174Ser Single submitter SLC35A2-congenital disorder of glycosylation ⚠
  • p.Ala174Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala178Ser Single submitter ⚠
  • p.Ala180Val Single submitter ⚠
  • p.Ala182= Single submitter
  • p.Ala185Glu Single submitter Inborn genetic diseases ⚠
  • p.Ala18Gly Single submitter Inborn genetic diseases ⚠
  • p.Ala291Met Single submitter
  • p.Ala291Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala291Val Single submitter Inborn genetic diseases
  • p.Ala301Glu Single submitter
  • p.Ala305Ser Single submitter ⚠
  • p.Ala385Ser Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism ⚠
  • p.Ala385Thr Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism ⚠
  • p.Ala45= Single submitter
  • p.Ala5Glu Single submitter ⚠
  • p.Arg106Gly Single submitter ⚠
  • p.Arg269Pro Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism ⚠
  • p.Arg269Ser Single submitter Inborn genetic diseases
  • p.Arg310Leu Single submitter Inborn genetic diseases ⚠
  • p.Arg337Leu Single submitter Inborn genetic diseases ⚠
  • p.Arg82Met Single submitter ⚠
  • p.Asn271Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn54Ser Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism ⚠
  • p.Asn76fs Single submitter
  • p.Asp190Asn Single submitter ⚠
  • p.Asp196Asn Single submitter ⚠
  • p.Asp20His Single submitter ⚠
  • p.Asp225Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp225Glu Single submitter ⚠
  • p.Asp227Asn Single submitter ⚠
  • p.Asp230_Asp233del Single submitter
  • p.Asp230Glu Single submitter ⚠
  • p.Asp230Tyr Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism ⚠
  • p.Asp232_Asp233del Single submitter
  • p.Asp233_Glu234insAspAspAsp Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Asp244Glu Single submitter ⚠
  • p.Asp295Glu Single submitter pituitary stalk interruption syndrome ⚠
  • p.Asp359= Single submitter
  • p.Asp359Gly Single submitter ⚠
  • p.Asp360Asn Single submitter ⚠
  • p.Asp38Gly Single submitter ⚠
  • p.Asp428Gly Single submitter ⚠
  • p.Asp436Tyr Single submitter ⚠
  • p.Cys167Ser Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism ⚠
  • p.Cys219Arg Single submitter Inborn genetic diseases ⚠
  • p.Cys219Phe Single submitter
  • p.Cys219Ter Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Cys417Trp Single submitter ⚠
  • p.Gln136= Single submitter
  • p.Gln187= Single submitter
  • p.Gln253Pro Single submitter Inborn genetic diseases ⚠
  • p.Gln321His Single submitter ⚠
  • p.Gln379_Gln380del Single submitter
  • p.Gln380His Single submitter Inborn genetic diseases ⚠
  • p.Gln70Pro Single submitter ⚠
  • p.Glu17Gln Single submitter
  • p.Glu22Ala Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Glu22Gly Single submitter
  • p.Glu23Asp Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism ⚠
  • p.Glu23Lys Single submitter ⚠
  • p.Glu242Gln Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism ⚠
  • p.Glu245Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu249= Single submitter
  • p.Glu25Asp Single submitter ⚠
  • p.Glu296Asp Single submitter Inborn genetic diseases ⚠
  • p.Glu378Gln Single submitter Inborn genetic diseases ⚠
  • p.Gly144= Single submitter
  • p.Gly144Ser Single submitter ⚠
  • p.Gly146_Gly153del Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Gly146Ala Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism ⚠
  • p.Gly146Asp Single submitter Inborn genetic diseases
  • p.Gly147_Gly148del Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Gly147_Gly148dup Single submitter
  • p.Gly147Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly148Ala Single submitter Inborn genetic diseases ⚠
  • p.Gly152_Gly153insSerAlaGlyGly Single submitter
  • p.Gly153Asp Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Gly156Cys Single submitter Inborn genetic diseases ⚠
  • p.Gly162Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly162Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly168Val Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism ⚠
  • p.Gly181Cys Single submitter ⚠
  • p.Gly181Val Single submitter ⚠
  • p.Gly195Ala Single submitter ⚠
  • p.Gly209= Single submitter
  • p.Gly210_Gly214del Single submitter
  • p.Gly210Ser Single submitter ⚠
  • p.Gly210Val Single submitter hypogonadotropic hypogonadism ⚠
  • p.Gly300= Single submitter
  • p.Gly304Val Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism ⚠
  • p.Gly306Val Single submitter ⚠
  • p.Gly307Cys Single submitter ⚠
  • p.Gly308Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly348_Ser349insGly Single submitter
  • p.Gly355_Glu356insSerSerGly Single submitter
  • p.Gly382Arg Single submitter ⚠
  • p.Gly382Val Single submitter ⚠
  • p.Gly383Cys Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism ⚠
  • p.Gly47= Single submitter
  • p.Gly47Ala Single submitter ⚠
  • p.Gly47Ser Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism ⚠
  • p.His374Leu Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism ⚠
  • p.His48= Single submitter
  • p.Ile62Phe Single submitter ⚠
  • p.Ile67Val Single submitter ⚠
  • p.Ile79Leu Single submitter ⚠
  • p.Ile96Asn Single submitter ⚠
  • p.Leu107His Single submitter ⚠
  • p.Leu203Met Single submitter ⚠
  • p.Leu255Phe Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism ⚠
  • p.Leu266Pro Single submitter ⚠
  • p.Leu293Phe Single submitter Inborn genetic diseases
  • p.Leu8_Ser12del Single submitter Inborn genetic diseases
  • p.Leu90Arg Single submitter ⚠
  • p.Lys122Arg Single submitter
  • p.Lys166Asn Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism ⚠
  • p.Lys169fs Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Lys171= Single submitter
  • p.Lys218Arg Single submitter ⚠
  • p.Lys240Glu Single submitter
  • p.Lys320= Single submitter
  • p.Lys397fs Single submitter
  • p.Lys397Thr Single submitter Inborn genetic diseases ⚠
  • p.Met126Val Single submitter ⚠
  • p.Met27Thr Single submitter
  • p.Met362Thr Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism ⚠
  • p.Met74Leu Single submitter ⚠
  • p.Met89Lys Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism ⚠
  • p.Phe98Leu Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism ⚠
  • p.Pro128His Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Pro173Ser Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism ⚠
  • p.Pro243Ala Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism ⚠
  • p.Pro251= Single submitter
  • p.Pro251Leu Single submitter ⚠
  • p.Pro258Ala Single submitter ⚠
  • p.Pro258Thr Single submitter Inborn genetic diseases ⚠
  • p.Pro263Gln Single submitter Inborn genetic diseases ⚠
  • p.Pro263Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro263Thr Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism ⚠
  • p.Pro288= Single submitter
  • p.Pro324Gly Single submitter
  • p.Pro325Leu Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism ⚠
  • p.Pro39Arg Single submitter ⚠
  • p.Pro72= Single submitter
  • p.Pro97= Single submitter
  • p.Ser12Asn Single submitter Inborn genetic diseases ⚠
  • p.Ser12Cys Single submitter ⚠
  • p.Ser141= Single submitter
  • p.Ser141Asn Single submitter Inborn genetic diseases ⚠
  • p.Ser164Asn Single submitter Inborn genetic diseases ⚠
  • p.Ser206Asn Single submitter Inborn genetic diseases ⚠
  • p.Ser208_Gly212del Single submitter
  • p.Ser283Ile Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism ⚠
  • p.Ser287Phe Single submitter Inborn genetic diseases ⚠
  • p.Ser309Asn Single submitter ⚠
  • p.Ser332Ter Single submitter
  • p.Ser336Leu Single submitter ⚠
  • p.Ser338Ter Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Ser338Trp Single submitter ⚠
  • p.Ser344Phe Single submitter ⚠
  • p.Ser344Tyr Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
  • p.Ser345= Single submitter
  • p.Ser345Leu Single submitter
  • p.Ser346Gly Single submitter Inborn genetic diseases ⚠
  • p.Ser347Asn Single submitter Inborn genetic diseases
  • p.Ser349Gly Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism ⚠
  • p.Ser354_Gly355insSer Single submitter
  • p.Ser372= Single submitter
  • p.Ser375Arg Single submitter Inborn genetic diseases ⚠
  • p.Ser37Arg Single submitter ⚠
  • p.Ser401Leu Single submitter ⚠
  • p.Ser422Asn Single submitter ⚠
  • p.Ser435Cys Single submitter ⚠
  • p.Ser80Cys Single submitter Inborn genetic diseases ⚠
  • p.Ter442Cys Single submitter
  • p.Thr216Met Single submitter hypogonadotropic hypogonadism ⚠
  • p.Thr21Met Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism ⚠
  • p.Thr280= Single submitter
  • p.Thr319Ser Single submitter ⚠
  • p.Thr341Ala Single submitter ⚠
  • p.Thr44Met Single submitter ⚠
  • p.Tyr113Cys Single submitter ⚠
  • p.Tyr116Cys Single submitter intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism ⚠
  • p.Tyr270Cys Single submitter hypogonadotropic hypogonadism ⚠
  • p.Tyr294His Single submitter ⚠
  • p.Val297Leu Single submitter Inborn genetic diseases ⚠
  • p.Val32Gly Single submitter Inborn genetic diseases ⚠
  • p.Val58Ile Single submitter ⚠
  • p.Gly153_Gly156dup No assertion criteria
  • p.Ser287Cys No assertion criteria SOX11-related disorder ⚠
  • p.Ser335Cys No assertion criteria SOX11-related disorder ⚠
  • p.Ser393Pro No assertion criteria SOX11-related disorder ⚠
  • p.Tyr116del No assertion criteria intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism