Sugi Variant

Sugi Variant/B3GALT6

B3GALT6 — 389 ClinVar variants

All ClinVar germline B3GALT6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 205 flagged for review →

20 Pathogenic · 5 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 23 Conflicting · 7 Benign/Likely benign · 98 Likely benign · 228 Uncertain significance

Full B3GALT6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 205

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 6

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

Predictors lean, ClinVar uncertain 140

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

Predictors split 58

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

All B3GALT6 variants

Pathogenic 20

  • p.Phe186Leu Multiple submitters B3GALT6-related disorders ⚠
  • p.Thr79Ala Multiple submitters B3GALT6-related disorders
  • p.Ala66_Arg84del Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Arg40fs Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Arg84fs Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Asp207His Single submitter spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures ⚠
  • p.Ile76fs Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Lys154Ter Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Lys193Ter Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Met1Ile Single submitter spondyloepimetaphyseal dysplasia with joint laxity
  • p.Met1Leu Single submitter Al-Gazali syndrome
  • p.Tyr212Ter Single submitter spondyloepimetaphyseal dysplasia with joint laxity
  • p.Tyr28Ter Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Ala108fs No assertion criteria Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures
  • p.Asp156Asn No assertion criteria spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
  • p.Cys206Trp No assertion criteria Al-Gazali syndrome
  • p.Cys300Ser No assertion criteria spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
  • p.Gly217Ser No assertion criteria Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures
  • p.Ser159Tyr No assertion criteria Al-Gazali syndrome
  • p.Ser65Gly No assertion criteria spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures ⚠

Pathogenic/Likely pathogenic 5

  • p.Arg256Trp Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Met1Thr Multiple submitters B3GALT6-related congenital disorder of glycosylation
  • p.Met1Val Multiple submitters spondyloepimetaphyseal dysplasia with joint laxity
  • p.Pro67Leu Multiple submitters spondyloepimetaphyseal dysplasia with joint laxity ⚠
  • p.Ser309Thr Multiple submitters spondyloepimetaphyseal dysplasia with joint laxity ⚠

Likely pathogenic 8

  • p.Ala99fs Single submitter B3GALT6-related disorders
  • p.Gln255Ter Single submitter spondyloepiphyseal dysplasia
  • p.Met1Arg Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Met1Lys Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Trp142Ter Single submitter
  • p.Trp80Ter Single submitter
  • p.Tyr227Ter Single submitter
  • p.Gln305Ter No assertion criteria B3GALT6-related disorder

Conflicting classifications of pathogenicity 23

  • p.Ala172Val Single submitter spondyloepimetaphyseal dysplasia with joint laxity ⚠
  • p.Ala55= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Arg162Gln Single submitter Inborn genetic diseases
  • p.Arg180Cys Single submitter spondyloepimetaphyseal dysplasia with joint laxity ⚠
  • p.Arg180dup Single submitter spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
  • p.Arg197fs Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Arg232Cys Single submitter spondyloepimetaphyseal dysplasia with joint laxity ⚠
  • p.Arg302fs Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Arg68fs Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Asp118fs Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Asp233= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Asp285Asn Single submitter spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures ⚠
  • p.Glu265Asp Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Gly37Arg Single submitter spondyloepimetaphyseal dysplasia with joint laxity ⚠
  • p.Gly37Glu Single submitter spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures ⚠
  • p.Leu122dup Single submitter Inborn genetic diseases
  • p.Phe149Leu Single submitter spondyloepimetaphyseal dysplasia with joint laxity ⚠
  • p.Pro211Ser Single submitter Al-Gazali syndrome ⚠
  • p.Pro251= Single submitter spondyloepimetaphyseal dysplasia with joint laxity
  • p.Pro36Leu Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Ser319Leu Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Thr278= Single submitter spondyloepimetaphyseal dysplasia with joint laxity
  • p.Tyr182Cys Single submitter spondyloepimetaphyseal dysplasia with joint laxity ⚠

Benign/Likely benign 7

  • p.Ala161= Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Glu130Lys Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Glu174Asp Multiple submitters spondyloepimetaphyseal dysplasia with joint laxity
  • p.Glu303= Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Leu153Ile Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Ser46= Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Trp8_Ala12dup Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type, 2

Likely benign 98

  • c.-23G>A Multiple submitters
  • p.Ala108= Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Ala250= Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Ala95= Multiple submitters spondyloepimetaphyseal dysplasia with joint laxity
  • p.Arg229= Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Arg256= Multiple submitters spondyloepimetaphyseal dysplasia with joint laxity
  • p.Arg261= Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Arg84= Multiple submitters spondyloepimetaphyseal dysplasia with joint laxity
  • p.Asp118= Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Cys32= Multiple submitters spondyloepimetaphyseal dysplasia with joint laxity
  • p.Gly184= Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Leu16= Multiple submitters spondyloepimetaphyseal dysplasia with joint laxity
  • p.Leu170= Multiple submitters spondyloepimetaphyseal dysplasia with joint laxity
  • p.Leu27= Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Leu283= Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Leu3= Multiple submitters spondyloepimetaphyseal dysplasia with joint laxity
  • p.Leu4= Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Leu59= Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Phe186= Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Pro194= Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Pro317= Multiple submitters spondyloepimetaphyseal dysplasia with joint laxity
  • p.Pro49= Multiple submitters spondyloepimetaphyseal dysplasia with joint laxity
  • p.Pro87= Multiple submitters spondyloepimetaphyseal dysplasia with joint laxity
  • p.Tyr275= Multiple submitters
  • p.Val192= Multiple submitters spondyloepimetaphyseal dysplasia with joint laxity
  • c.-38G>A Single submitter
  • p.Ala128= Single submitter spondyloepimetaphyseal dysplasia with joint laxity
  • p.Ala138= Single submitter spondyloepimetaphyseal dysplasia with joint laxity
  • p.Ala165= Single submitter spondyloepimetaphyseal dysplasia with joint laxity
  • p.Ala168= Single submitter spondyloepimetaphyseal dysplasia with joint laxity
  • p.Ala30= Single submitter spondyloepimetaphyseal dysplasia with joint laxity
  • p.Ala34= Single submitter spondyloepimetaphyseal dysplasia with joint laxity
  • p.Ala57= Single submitter spondyloepimetaphyseal dysplasia with joint laxity
  • p.Ala66= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Ala70= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Arg111= Single submitter spondyloepimetaphyseal dysplasia with joint laxity
  • p.Arg115= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Arg171= Single submitter
  • p.Arg173= Single submitter spondyloepimetaphyseal dysplasia with joint laxity
  • p.Arg191= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Arg197= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Arg199= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Arg325= Single submitter
  • p.Arg6= Single submitter spondyloepimetaphyseal dysplasia with joint laxity
  • p.Asn131= Single submitter spondyloepimetaphyseal dysplasia with joint laxity
  • p.Asp144= Single submitter
  • p.Asp207= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Glu112= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Glu288= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Glu71= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Gly195= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Gly85= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Gly97= Single submitter spondyloepimetaphyseal dysplasia with joint laxity
  • p.Ile76= Single submitter
  • p.Leu119= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Leu122= Single submitter spondyloepimetaphyseal dysplasia with joint laxity
  • p.Leu137= Single submitter spondyloepimetaphyseal dysplasia with joint laxity
  • p.Leu153= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Leu163= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Leu167= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Leu181= Single submitter
  • p.Leu19= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Leu210= Single submitter spondyloepimetaphyseal dysplasia with joint laxity
  • p.Leu214= Single submitter
  • p.Leu224= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Leu228= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Leu230= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Leu235= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Leu276= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Leu287= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Leu29= Single submitter
  • p.Leu293= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Leu306= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Lys154= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Lys301= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Phe185= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Pro47= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Pro48= Single submitter
  • p.Pro50= Single submitter
  • p.Pro52= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Ser159= Single submitter
  • p.Ser319= Single submitter spondyloepimetaphyseal dysplasia with joint laxity
  • p.Ser43= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Ser65= Single submitter
  • p.Ser78= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Ter330= Single submitter spondyloepimetaphyseal dysplasia with joint laxity
  • p.Thr18= Single submitter
  • p.Thr98= Single submitter
  • p.Tyr129= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Tyr182= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Tyr208= Single submitter
  • p.Tyr234= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Val152= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Val254= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Val63= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • c.*5C>G No assertion criteria B3GALT6-related disorder
  • p.Ala25= No assertion criteria B3GALT6-related disorder
  • p.His146= No assertion criteria B3GALT6-related disorder

Uncertain significance 228

  • c.-5G>A Multiple submitters
  • p.Ala103Val Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Ala114Glu Multiple submitters spondyloepimetaphyseal dysplasia with joint laxity ⚠
  • p.Ala114Thr Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Ala124Thr Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Ala12Gly Multiple submitters spondyloepimetaphyseal dysplasia with joint laxity ⚠
  • p.Ala141Val Multiple submitters spondyloepimetaphyseal dysplasia with joint laxity ⚠
  • p.Ala168Val Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Ala176Ser Multiple submitters spondyloepimetaphyseal dysplasia with joint laxity ⚠
  • p.Ala202Thr Multiple submitters spondyloepimetaphyseal dysplasia with joint laxity ⚠
  • p.Ala20Gly Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Ala41Val Multiple submitters ⚠
  • p.Ala57Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala7_Arg10dup Multiple submitters spondyloepimetaphyseal dysplasia with joint laxity
  • p.Arg11Trp Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Arg177Cys Multiple submitters spondyloepimetaphyseal dysplasia with joint laxity ⚠
  • p.Arg179Pro Multiple submitters B3GALT6-related disorder ⚠
  • p.Arg236Ser Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Arg269Cys Multiple submitters spondyloepimetaphyseal dysplasia with joint laxity ⚠
  • p.Arg295Cys Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Arg295Leu Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Arg6Gln Multiple submitters spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures ⚠
  • p.Asn273Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Asn273Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asp118Asn Multiple submitters ⚠
  • p.Asp242Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Asp313Asn Multiple submitters spondyloepimetaphyseal dysplasia with joint laxity ⚠
  • p.Glu105Gln Multiple submitters spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures ⚠
  • p.Glu174Gln Multiple submitters spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures ⚠
  • p.Glu296Lys Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Gly17Ser Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Gly195Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gly196Val Multiple submitters spondyloepimetaphyseal dysplasia with joint laxity ⚠
  • p.His116Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.His146Tyr Multiple submitters spondyloepimetaphyseal dysplasia with joint laxity ⚠
  • p.His226Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Leu14fs Multiple submitters spondyloepimetaphyseal dysplasia with joint laxity
  • p.Leu153Pro Multiple submitters spondyloepimetaphyseal dysplasia with joint laxity ⚠
  • p.Leu205Val Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Leu26Pro Multiple submitters spondyloepimetaphyseal dysplasia with joint laxity ⚠
  • p.Leu299Met Multiple submitters spondyloepimetaphyseal dysplasia with joint laxity ⚠
  • p.Leu59Val Multiple submitters Inborn genetic diseases ⚠
  • p.Met139Val Multiple submitters spondyloepimetaphyseal dysplasia with joint laxity ⚠
  • p.Phe185Cys Multiple submitters spondyloepimetaphyseal dysplasia with joint laxity ⚠
  • p.Pro123Ser Multiple submitters spondyloepimetaphyseal dysplasia with joint laxity ⚠
  • p.Pro329Leu Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Pro49Thr Multiple submitters spondyloepimetaphyseal dysplasia with joint laxity ⚠
  • p.Pro50Ala Multiple submitters Al-Gazali syndrome ⚠
  • p.Pro50Arg Multiple submitters spondyloepimetaphyseal dysplasia with joint laxity ⚠
  • p.Pro50His Multiple submitters Inborn genetic diseases ⚠
  • p.Pro50Thr Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Ser159Pro Multiple submitters ⚠
  • p.Ser244Phe Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Ser268Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Ser272Arg Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Ser43Leu Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Ser65Cys Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Thr278Met Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Trp91Cys Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Val152Ala Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Val219Met Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Val277Leu Multiple submitters spondyloepimetaphyseal dysplasia with joint laxity ⚠
  • c.-11G>A Single submitter
  • c.-14C>T Single submitter
  • c.-15C>T Single submitter
  • c.-19C>G Single submitter
  • c.*6C>T Single submitter
  • p.8WRRRA[3] Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Ala114Gly Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Ala13Gly Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Ala141= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Ala141fs Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Ala148Val Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Ala155Glu Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Ala165Val Single submitter ⚠
  • p.Ala168Gly Single submitter spondyloepimetaphyseal dysplasia with joint laxity ⚠
  • p.Ala176Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala213Val Single submitter ⚠
  • p.Ala222fs Single submitter
  • p.Ala222Pro Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Ala24Ser Single submitter spondyloepimetaphyseal dysplasia with joint laxity ⚠
  • p.Ala24Thr Single submitter spondyloepimetaphyseal dysplasia with joint laxity ⚠
  • p.Ala24Val Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Ala250Gly Single submitter spondyloepimetaphyseal dysplasia with joint laxity ⚠
  • p.Ala250Val Single submitter Al-Gazali syndrome ⚠
  • p.Ala291Pro Single submitter spondyloepimetaphyseal dysplasia with joint laxity ⚠
  • p.Ala294Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala33= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Ala34Val Single submitter spondyloepimetaphyseal dysplasia with joint laxity ⚠
  • p.Ala51fs Single submitter spondyloepimetaphyseal dysplasia with joint laxity
  • p.Ala51Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala55Pro Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Ala56= Single submitter spondyloepimetaphyseal dysplasia with joint laxity
  • p.Ala60= Single submitter
  • p.Ala60Thr Single submitter spondyloepimetaphyseal dysplasia with joint laxity ⚠
  • p.Ala82Val Single submitter Inborn genetic diseases ⚠
  • p.Arg10= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Arg10Gln Single submitter ⚠
  • p.Arg10Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg11_Ala12insArg Single submitter
  • p.Arg115Trp Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Arg162Leu Single submitter Inborn genetic diseases ⚠
  • p.Arg162Trp Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Arg171Cys Single submitter spondyloepimetaphyseal dysplasia with joint laxity ⚠
  • p.Arg171His Single submitter Inborn genetic diseases ⚠
  • p.Arg177His Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Arg178Cys Single submitter spondyloepimetaphyseal dysplasia with joint laxity
  • p.Arg178Leu Single submitter spondyloepimetaphyseal dysplasia with joint laxity ⚠
  • p.Arg179Cys Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Arg189Leu Single submitter ⚠
  • p.Arg191Cys Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Arg232Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg267Trp Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Arg302Leu Single submitter Inborn genetic diseases ⚠
  • p.Arg31Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg324Lys Single submitter Inborn genetic diseases ⚠
  • p.Arg45Leu Single submitter ⚠
  • p.Arg54_Ala55del Single submitter
  • p.Arg54Gly Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Arg5Trp Single submitter spondyloepimetaphyseal dysplasia with joint laxity ⚠
  • p.Arg68Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg68Pro Single submitter Inborn genetic diseases ⚠
  • p.Arg6Trp Single submitter spondyloepimetaphyseal dysplasia with joint laxity ⚠
  • p.Arg72His Single submitter Inborn genetic diseases ⚠
  • p.Arg73_Arg77dup Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Arg73His Single submitter ⚠
  • p.Arg9Leu Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Asn273Lys Single submitter Inborn genetic diseases ⚠
  • p.Asp118Glu Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Asp158Ser Single submitter spondyloepimetaphyseal dysplasia with joint laxity
  • p.Asp158Tyr Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Asp164Val Single submitter ⚠
  • p.Asp207Glu Single submitter Inborn genetic diseases ⚠
  • p.Asp223Asn Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Asp38Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp38Gly Single submitter ⚠
  • p.Gln113Arg Single submitter ⚠
  • p.Gln255Glu Single submitter spondyloepimetaphyseal dysplasia with joint laxity ⚠
  • p.Gln305His Single submitter Inborn genetic diseases ⚠
  • p.Glu104Asp Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Glu130Gly Single submitter spondyloepimetaphyseal dysplasia with joint laxity ⚠
  • p.Glu150Asp Single submitter ⚠
  • p.Glu150Gln Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Glu174Ala Single submitter Inborn genetic diseases ⚠
  • p.Glu174fs Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Glu174Gly Single submitter spondyloepimetaphyseal dysplasia with joint laxity ⚠
  • p.Glu200Lys Single submitter spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures ⚠
  • p.Gly100Val Single submitter Inborn genetic diseases
  • p.Gly15Ser Single submitter ⚠
  • p.Gly195Trp Single submitter ⚠
  • p.Gly196Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly216Ser Single submitter spondyloepimetaphyseal dysplasia with joint laxity ⚠
  • p.Gly217= Single submitter
  • p.Gly23Glu Single submitter ⚠
  • p.Gly327= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Gly37Ala Single submitter Inborn genetic diseases ⚠
  • p.His116Arg Single submitter spondyloepimetaphyseal dysplasia with joint laxity ⚠
  • p.His146Arg Single submitter ⚠
  • p.His258Tyr Single submitter spondyloepimetaphyseal dysplasia with joint laxity ⚠
  • p.Ile328fs Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Ile76Met Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Ile76Ser Single submitter spondyloepimetaphyseal dysplasia with joint laxity ⚠
  • p.Leu119Pro Single submitter Inborn genetic diseases ⚠
  • p.Leu137Val Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Leu140= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Leu143Val Single submitter Inborn genetic diseases ⚠
  • p.Leu14Val Single submitter Inborn genetic diseases ⚠
  • p.Leu153Phe Single submitter spondyloepimetaphyseal dysplasia with joint laxity ⚠
  • p.Leu181Ile Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Leu21Pro Single submitter Inborn genetic diseases ⚠
  • p.Leu228Arg Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Leu230_Arg236dup Single submitter
  • p.Leu27Phe Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Leu287Gln Single submitter Inborn genetic diseases ⚠
  • p.Leu287Val Single submitter spondyloepimetaphyseal dysplasia with joint laxity ⚠
  • p.Leu3Val Single submitter Inborn genetic diseases ⚠
  • p.Leu4Val Single submitter spondyloepimetaphyseal dysplasia with joint laxity ⚠
  • p.Lys135Arg Single submitter Inborn genetic diseases ⚠
  • p.Lys154Arg Single submitter ⚠
  • p.Lys280Thr Single submitter ⚠
  • p.Met139_Ala141del Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Met286Val Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Phe149fs Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Phe186del Single submitter
  • p.Phe186Val Single submitter Inborn genetic diseases ⚠
  • p.Pro123Thr Single submitter Inborn genetic diseases
  • p.Pro175Ala Single submitter Inborn genetic diseases ⚠
  • p.Pro194Arg Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Pro194Ser Single submitter ⚠
  • p.Pro36Thr Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Pro39Leu Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Pro47Leu Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Pro48Ser Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Pro50Leu Single submitter ⚠
  • p.Pro52Leu Single submitter ⚠
  • p.Pro67Ser Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Pro67Thr Single submitter spondyloepimetaphyseal dysplasia with joint laxity ⚠
  • p.Ser187Trp Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Ser231Arg Single submitter ⚠
  • p.Ser272Asn Single submitter spondyloepimetaphyseal dysplasia with joint laxity ⚠
  • p.Ser65Thr Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Ser74Cys Single submitter Inborn genetic diseases ⚠
  • p.Thr133Lys Single submitter Inborn genetic diseases ⚠
  • p.Thr79Arg Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Thr79Lys Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Thr98fs Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Trp183Arg Single submitter spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures ⚠
  • p.Trp183Ter Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Trp203Cys Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Trp203fs Single submitter
  • p.Trp8Gly Single submitter ⚠
  • p.Tyr208Ser Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Tyr212Cys Single submitter Inborn genetic diseases ⚠
  • p.Tyr218fs Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Tyr218Phe Single submitter
  • p.Tyr234Ter Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • p.Tyr310Cys Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Val152Leu Single submitter ⚠
  • p.Val192Gly Single submitter Inborn genetic diseases ⚠
  • p.Val225Leu Single submitter spondyloepimetaphyseal dysplasia with joint laxity ⚠
  • p.Val243Leu Single submitter Inborn genetic diseases ⚠
  • p.Val277Met Single submitter spondyloepimetaphyseal dysplasia with joint laxity ⚠
  • p.Val311Leu Single submitter ⚠
  • p.Val63Leu Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 2 ⚠
  • p.Val75Met Single submitter ⚠
  • p.Val96Met Single submitter Inborn genetic diseases ⚠
  • p.Gly190Ser No assertion criteria B3GALT6-related disorder ⚠
  • p.Phe151Ile No assertion criteria spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures ⚠