B4GALT7 — 428 ClinVar variants

All ClinVar germline B4GALT7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 181 flagged for review →

16 Pathogenic · 1 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 19 Conflicting · 19 Benign · 7 Benign/Likely benign · 163 Likely benign · 198 Uncertain significance

Full B4GALT7 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 8

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

B4GALT7 p.Ala272Thr Conflicting Single submitter
Inborn genetic diseases
B4GALT7 p.Arg141Trp Conflicting Single submitter
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Arg256His Conflicting Single submitter
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Cys214Tyr Conflicting Single submitter
Ehlers-Danlos syndrome, spondylodysplastic type, 1
B4GALT7 p.Gln133Arg Conflicting Single submitter
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Phe43Cys Conflicting Single submitter
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Pro3Ser Conflicting Single submitter
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Val57Met Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 134

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

B4GALT7 p.Arg102His Uncertain significance Multiple submitters
B4GALT7 p.Arg104Leu Uncertain significance Multiple submitters
Inborn genetic diseases
B4GALT7 p.Arg17Gly Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Arg212Trp Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Arg220Cys Uncertain significance Multiple submitters
Inborn genetic diseases
B4GALT7 p.Arg226His Uncertain significance Multiple submitters
Inborn genetic diseases
B4GALT7 p.Arg233Gln Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Arg234Cys Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Arg244His Uncertain significance Multiple submitters
Inborn genetic diseases
B4GALT7 p.Arg256Cys Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Arg27Trp Uncertain significance Multiple submitters
Inborn genetic diseases
B4GALT7 p.Arg62Lys Uncertain significance Multiple submitters
Inborn genetic diseases
B4GALT7 p.Arg73His Uncertain significance Multiple submitters
Inborn genetic diseases
B4GALT7 p.Asp163Asn Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Asp229Asn Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Gln10Leu Uncertain significance Multiple submitters
Inborn genetic diseases
B4GALT7 p.Glu172Lys Uncertain significance Multiple submitters
Inborn genetic diseases
B4GALT7 p.Glu230Lys Uncertain significance Multiple submitters
Ehlers-Danlos syndrome
B4GALT7 p.Glu284Lys Uncertain significance Multiple submitters
Inborn genetic diseases
B4GALT7 p.Glu86Gln Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Gly16Arg Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Gly181Arg Uncertain significance Multiple submitters
Inborn genetic diseases
B4GALT7 p.Gly201Ser Uncertain significance Multiple submitters
Inborn genetic diseases
B4GALT7 p.Gly63Glu Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Gly63Val Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, spondylodysplastic type, 1
B4GALT7 p.His114Asn Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Ile271Leu Uncertain significance Multiple submitters
Inborn genetic diseases
B4GALT7 p.Leu205Pro Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Leu95Val Uncertain significance Multiple submitters
Inborn genetic diseases
B4GALT7 p.Lys122Gln Uncertain significance Multiple submitters
Inborn genetic diseases
B4GALT7 p.Lys208Arg Uncertain significance Multiple submitters
B4GALT7 p.Lys291Arg Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Lys7Arg Uncertain significance Multiple submitters
Inborn genetic diseases
B4GALT7 p.Met217Ile Uncertain significance Multiple submitters
B4GALT7 p.Met313Ile Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Phe101Ser Uncertain significance Multiple submitters
Inborn genetic diseases
B4GALT7 p.Phe105Val Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, spondylodysplastic type, 1
B4GALT7 p.Pro188Arg Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Pro261Ser Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Pro80Leu Uncertain significance Multiple submitters
Inborn genetic diseases
B4GALT7 p.Pro92Ser Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Ser207Phe Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, spondylodysplastic type, 1
B4GALT7 p.Ser246Leu Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, spondylodysplastic type, 1
B4GALT7 p.Ser45Cys Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Thr254Ile Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Tyr292Cys Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Val164Ala Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Ala299Thr Uncertain significance Single submitter
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Ala320Asp Uncertain significance Single submitter
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Ala37Thr Uncertain significance Single submitter
Inborn genetic diseases
B4GALT7 p.Ala8Thr Uncertain significance Single submitter
B4GALT7 p.Arg116Gly Uncertain significance Single submitter
B4GALT7 p.Arg116His Uncertain significance Single submitter
B4GALT7 p.Arg121Thr Uncertain significance Single submitter
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Arg141Gln Uncertain significance Single submitter
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Arg244Cys Uncertain significance Single submitter
B4GALT7 p.Arg283Lys Uncertain significance Single submitter
B4GALT7 p.Arg59Trp Uncertain significance Single submitter
Inborn genetic diseases
B4GALT7 p.Arg5Gln Uncertain significance Single submitter
B4GALT7 p.Arg5Trp Uncertain significance Single submitter
B4GALT7 p.Arg62Ser Uncertain significance Single submitter
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Arg94Leu Uncertain significance Single submitter
Inborn genetic diseases
B4GALT7 p.Asp174His Uncertain significance Single submitter
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Asp228Glu Uncertain significance Single submitter
B4GALT7 p.Asp282Asn Uncertain significance Single submitter
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Asp56Glu Uncertain significance Single submitter
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Cys29Tyr Uncertain significance Single submitter
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Glu171Gln Uncertain significance Single submitter
B4GALT7 p.Glu78Lys Uncertain significance Single submitter
B4GALT7 p.Glu82Val Uncertain significance Single submitter
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Glu86Asp Uncertain significance Single submitter
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Gly19Trp Uncertain significance Single submitter
Inborn genetic diseases
B4GALT7 p.Gly202Val Uncertain significance Single submitter
Inborn genetic diseases
B4GALT7 p.Gly223Ser Uncertain significance Single submitter
Ehlers-Danlos syndrome, spondylodysplastic type, 1
B4GALT7 p.Gly63Ala Uncertain significance Single submitter
B4GALT7 p.Gly70Ser Uncertain significance Single submitter
B4GALT7 p.His114Arg Uncertain significance Single submitter
B4GALT7 p.His136Leu Uncertain significance Single submitter
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.His162Arg Uncertain significance Single submitter
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.His162Gln Uncertain significance Single submitter
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.His162Tyr Uncertain significance Single submitter
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.His210Pro Uncertain significance Single submitter
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.His93Arg Uncertain significance Single submitter
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Leu119Met Uncertain significance Single submitter
Inborn genetic diseases
B4GALT7 p.Leu131Pro Uncertain significance Single submitter
Inborn genetic diseases
B4GALT7 p.Leu150Val Uncertain significance Single submitter
Inborn genetic diseases
B4GALT7 p.Leu169Val Uncertain significance Single submitter
Inborn genetic diseases
B4GALT7 p.Leu287Val Uncertain significance Single submitter
B4GALT7 p.Leu310Phe Uncertain significance Single submitter
Inborn genetic diseases
B4GALT7 p.Leu314Trp Uncertain significance Single submitter
Ehlers-Danlos syndrome
B4GALT7 p.Lys253Arg Uncertain significance Single submitter
Inborn genetic diseases
B4GALT7 p.Lys253Glu Uncertain significance Single submitter
Ehlers-Danlos syndrome
B4GALT7 p.Met313Arg Uncertain significance Single submitter
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Met313Lys Uncertain significance Single submitter
Inborn genetic diseases
B4GALT7 p.Met313Val Uncertain significance Single submitter
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Phe149Cys Uncertain significance Single submitter
B4GALT7 p.Phe149Ile Uncertain significance Single submitter
Inborn genetic diseases
B4GALT7 p.Phe149Tyr Uncertain significance Single submitter
Inborn genetic diseases
B4GALT7 p.Phe221Ser Uncertain significance Single submitter
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Phe32Ile Uncertain significance Single submitter
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Phe44Leu Uncertain significance Single submitter
B4GALT7 p.Pro100Arg Uncertain significance Single submitter
B4GALT7 p.Pro12Leu Uncertain significance Single submitter
B4GALT7 p.Pro188Leu Uncertain significance Single submitter
B4GALT7 p.Pro245Ser Uncertain significance Single submitter
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Pro72Ala Uncertain significance Single submitter
B4GALT7 p.Pro72Ser Uncertain significance Single submitter
Inborn genetic diseases
B4GALT7 p.Pro76Ser Uncertain significance Single submitter
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Pro76Thr Uncertain significance Single submitter
B4GALT7 p.Pro81Leu Uncertain significance Single submitter
B4GALT7 p.Pro92Arg Uncertain significance Single submitter
Inborn genetic diseases
B4GALT7 p.Pro92Leu Uncertain significance Single submitter
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Ser152Thr Uncertain significance Single submitter
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Ser155Arg Uncertain significance Single submitter
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Ser18Cys Uncertain significance Single submitter
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Ser22Phe Uncertain significance Single submitter
Inborn genetic diseases
B4GALT7 p.Ser30Phe Uncertain significance Single submitter
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Ser45Phe Uncertain significance Single submitter
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Ser52Ile Uncertain significance Single submitter
B4GALT7 p.Ser54Cys Uncertain significance Single submitter
B4GALT7 p.Thr250Ser Uncertain significance Single submitter
Inborn genetic diseases
B4GALT7 p.Thr321Ile Uncertain significance Single submitter
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Trp323Arg Uncertain significance Single submitter
Ehlers-Danlos syndrome
B4GALT7 p.Trp323Cys Uncertain significance Single submitter
B4GALT7 p.Tyr158Cys Uncertain significance Single submitter
B4GALT7 p.Tyr211Phe Uncertain significance Single submitter
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Val110Ile Uncertain significance Single submitter
B4GALT7 p.Val134Ala Uncertain significance Single submitter
Inborn genetic diseases
B4GALT7 p.Val164Ile Uncertain significance Single submitter
Inborn genetic diseases
B4GALT7 p.Val200Phe Uncertain significance Single submitter
B4GALT7 p.Val290Ala Uncertain significance Single submitter
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Val31Ile Uncertain significance Single submitter
B4GALT7 p.Val36Met Uncertain significance Single submitter
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Val57Ala Uncertain significance Single submitter
Ehlers-Danlos syndrome, spondylodysplastic type

Predictors split 39

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

B4GALT7 p.Arg125Gln Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Arg220Ser Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Arg264Gln Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, spondylodysplastic type, 1
B4GALT7 p.Arg264Trp Uncertain significance Multiple submitters
Inborn genetic diseases
B4GALT7 p.Arg270Cys Pathogenic Multiple submitters
Ehlers-Danlos syndrome, spondylodysplastic type, 1
B4GALT7 p.Arg270His Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Arg297Cys Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Arg297His Uncertain significance Multiple submitters
B4GALT7 p.Cys53Arg Uncertain significance Multiple submitters
B4GALT7 p.Glu106Lys Uncertain significance Multiple submitters
Inborn genetic diseases
B4GALT7 p.Glu171Lys Uncertain significance Multiple submitters
Inborn genetic diseases
B4GALT7 p.Gly304Ala Uncertain significance Multiple submitters
Inborn genetic diseases
B4GALT7 p.Gly304Arg Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Met115Val Uncertain significance Multiple submitters
Inborn genetic diseases
B4GALT7 p.Pro113Ser Uncertain significance Multiple submitters
Inborn genetic diseases
B4GALT7 p.Thr156Met Uncertain significance Multiple submitters
Inborn genetic diseases
B4GALT7 p.Val185Met Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Arg226Cys Conflicting Single submitter
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Arg297Ser Uncertain significance Single submitter
B4GALT7 p.Asn170Ser Uncertain significance Single submitter
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Asp174Glu Uncertain significance Single submitter
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Asp174Tyr Uncertain significance Single submitter
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Asp260Glu Uncertain significance Single submitter
Inborn genetic diseases
B4GALT7 p.Glu107Gln Uncertain significance Single submitter
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Gly251Ala Uncertain significance Single submitter
Inborn genetic diseases
B4GALT7 p.Gly251Arg Uncertain significance Single submitter
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.His93Tyr Conflicting Single submitter
Ehlers-Danlos syndrome
B4GALT7 p.Lys318Glu Uncertain significance Single submitter
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Met161Ile Uncertain significance Single submitter
Inborn genetic diseases
B4GALT7 p.Phe105Leu Uncertain significance Single submitter
B4GALT7 p.Pro188Ala Uncertain significance Single submitter
Inborn genetic diseases
B4GALT7 p.Ser152Gly Uncertain significance Single submitter
B4GALT7 p.Ser89Phe Uncertain significance Single submitter
Inborn genetic diseases
B4GALT7 p.Thr308Ala Uncertain significance Single submitter
Inborn genetic diseases
B4GALT7 p.Trp263Arg Uncertain significance Single submitter
Inborn genetic diseases
B4GALT7 p.Tyr129Cys Uncertain significance Single submitter
B4GALT7 p.Val110Gly Uncertain significance Single submitter
Ehlers-Danlos syndrome, spondylodysplastic type
B4GALT7 p.Val130Met Uncertain significance Single submitter
Inborn genetic diseases
B4GALT7 p.Val134Met Uncertain significance Single submitter
Ehlers-Danlos syndrome, spondylodysplastic type

All B4GALT7 variants

Pathogenic 16

p.Arg270Cys Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type, 1 ⚠
p.Pro81fs Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type
p.Cys75Ter Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Gln133Ter Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Glu227fs Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Glu78fs Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Ile159fs Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Leu109fs Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Leu150fs Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Leu34fs Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Ser40fs Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Trp13Ter Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Tyr194fs Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Val31fs Single submitter
p.Leu206Pro No assertion criteria Ehlers-Danlos syndrome, spondylodysplastic type
p.Leu41Pro No assertion criteria Ehlers-Danlos syndrome, spondylodysplastic type

Pathogenic/Likely pathogenic 1

p.Trp90fs Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type

Likely pathogenic 5

p.Ala186Asp Multiple submitters
c.179_413+354del Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
c.414-2A>G Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
c.50+1G>A Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
c.639+1G>A Single submitter Ehlers-Danlos syndrome, spondylodysplastic type

Conflicting classifications of pathogenicity 19

p.Ala272Thr Single submitter Inborn genetic diseases ⚠
p.Arg141Trp Single submitter Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Arg226Cys Single submitter Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Arg233Trp Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Arg256His Single submitter Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Asp163= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Asp229= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 1
p.Cys214Tyr Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 1 ⚠
p.Gln133Arg Single submitter Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Glu277Ter Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.His93fs Single submitter Fetal anomalies with a likely genetic cause
p.His93Tyr Single submitter Ehlers-Danlos syndrome ⚠
p.Ile271= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Leu173= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Phe105= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Phe255fs Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Phe43Cys Single submitter Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Pro3Ser Single submitter Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Val57Met Single submitter Inborn genetic diseases ⚠

Benign 19

c.413+12C>G Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type
c.413+60C>G Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type
c.414-20G>A Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type
c.828+28A>G Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type
p.Arg73= Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type
p.His259= Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type
p.Val99= Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type
c.414-150C>T Single submitter
c.414-328C>T Single submitter
c.50+144T>C Single submitter
c.639+258T>C Single submitter
c.640-188C>T Single submitter
c.640-229C>T Single submitter
c.640-41dup Single submitter
c.640-43_640-41del Single submitter
c.640-91T>C Single submitter
c.828+216T>C Single submitter
c.828+239C>G Single submitter
c.828+241G>A Single submitter

Benign/Likely benign 7

c.51-14C>T Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type
c.723+19C>T Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type
c.723+19del Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type
c.723+20G>A Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type
c.828+20T>C Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type
p.Leu144= Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type
p.Phe137= Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type

Likely benign 163

c.413+12C>T Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type
c.413+13C>T Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type
c.413+16A>G Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type
c.414-181T>G Multiple submitters
c.51-11G>A Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type
c.51-11G>T Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type
c.51-20C>T Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type
c.51-4C>T Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type
c.639+13C>G Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type
c.639+9C>T Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type
c.723+13G>A Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type
c.723+18C>T Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type
c.828+10G>A Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type
c.828+7G>C Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type
c.829-6C>T Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type
c.-26C>T Multiple submitters
p.Arg226= Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type
p.Asn170= Multiple submitters Inborn genetic diseases
p.Asp174= Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type
p.Asp228= Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type
p.Cys75= Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type
p.Gly303= Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type
p.Gly65= Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type
p.Gly91= Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type
p.His162= Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type
p.His293= Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type
p.Leu11= Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type
p.Leu166= Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type
p.Leu46= Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type
p.Lys197Glu Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type
p.Phe279= Multiple submitters
p.Pro188= Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type
p.Ser18= Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type
p.Ser22= Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type
p.Thr289= Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type
p.Thr319= Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type
p.Tyr129= Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type
p.Tyr211= Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type
p.Val200= Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type
c.413+11C>T Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
c.413+14C>T Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
c.413+15C>T Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
c.413+16A>C Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
c.413+17C>G Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
c.413+17C>T Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
c.413+19C>T Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
c.413+212G>A Single submitter
c.50+10G>C Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
c.50+11G>C Single submitter
c.50+13G>T Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
c.50+14G>A Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
c.50+15T>C Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
c.50+20C>A Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
c.50+5GCG[4] Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
c.50+9C>T Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
c.51-12C>T Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
c.51-13G>A Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
c.51-15C>A Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
c.51-16C>G Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
c.51-19T>C Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
c.51-20C>G Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
c.639+10G>A Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
c.639+13C>A Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
c.639+20CT[3] Single submitter
c.639+9C>A Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
c.640-14T>G Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
c.640-266G>A Single submitter
c.640-9C>T Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
c.723+12C>T Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
c.723+13G>T Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
c.723+15del Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
c.723+7T>C Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
c.723+7T>G Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
c.723+9C>A Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
c.723+9C>T Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
c.724-16C>G Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
c.724-20A>C Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
c.724-21_724-19del Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
c.724-6C>T Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
c.828+19A>G Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
c.829-12C>T Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
c.829-14C>G Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
c.829-16C>A Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
c.829-16C>T Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
c.-28G>T Single submitter
c.-31C>T Single submitter
c.-413C>A Single submitter
p.Ala143= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Ala262= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Ala305= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Ala320= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Ala74= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Ala96= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Arg102= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Arg117= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Arg125= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Arg141= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Arg17= Single submitter
p.Arg212= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Arg234= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Arg264= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Arg5= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Arg6= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Asn132= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Asn146= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Asn288= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Asp260= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Asp315= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Asp87= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Cys53= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Gln209= Single submitter
p.Glu151= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Glu284= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Glu82= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Gly19= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Gly201= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Gly216= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Gly23= Single submitter
p.Gly239= Single submitter
p.Gly24= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Gly24Ser Single submitter Inborn genetic diseases
p.His136= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.His184= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.His195= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.His33= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Ile124= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Ile235= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Ile248= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Leu108= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Leu193= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Leu204= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Leu21= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Leu240= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Leu242= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Leu300= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Leu34= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Leu41= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Leu95= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Lys280= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Phe111= Single submitter
p.Phe231= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Phe35= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Pro100= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Pro306= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Pro80= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Ser187= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Ser218= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Ser296= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Ser40= Single submitter
p.Ser45= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Ser89= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Thr156= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Thr250= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Thr308= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Thr321= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Thr68= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Tyr199= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Val110= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Val164= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Val185= Single submitter
p.Val302= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Val309= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Val57= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type

Uncertain significance 198

c.413+6G>A Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type
c.639+5G>A Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type, 1
p.Arg102His Multiple submitters ⚠
p.Arg104Leu Multiple submitters Inborn genetic diseases ⚠
p.Arg125Gln Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Arg138= Multiple submitters
p.Arg17Gly Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Arg212Trp Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Arg220Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg220Ser Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Arg226His Multiple submitters Inborn genetic diseases ⚠
p.Arg233Gln Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Arg234Cys Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Arg244His Multiple submitters Inborn genetic diseases ⚠
p.Arg256Cys Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Arg264Gln Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type, 1 ⚠
p.Arg264Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg270His Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Arg27Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg297Cys Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Arg297His Multiple submitters ⚠
p.Arg62Lys Multiple submitters Inborn genetic diseases ⚠
p.Arg73His Multiple submitters Inborn genetic diseases ⚠
p.Asp163Asn Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Asp229Asn Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Cys53Arg Multiple submitters ⚠
p.Gln10Leu Multiple submitters Inborn genetic diseases ⚠
p.Glu106Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu171Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu172Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu230Lys Multiple submitters Ehlers-Danlos syndrome ⚠
p.Glu284Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu86Gln Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Gly16Arg Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Gly181Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly201Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly304Ala Multiple submitters Inborn genetic diseases ⚠
p.Gly304Arg Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Gly63Glu Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Gly63Val Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type, 1 ⚠
p.His114Asn Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Ile271Leu Multiple submitters Inborn genetic diseases ⚠
p.Leu205Pro Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Leu95Val Multiple submitters Inborn genetic diseases ⚠
p.Lys122Gln Multiple submitters Inborn genetic diseases ⚠
p.Lys208Arg Multiple submitters ⚠
p.Lys291Arg Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Lys7Arg Multiple submitters Inborn genetic diseases ⚠
p.Met115Val Multiple submitters Inborn genetic diseases ⚠
p.Met217Ile Multiple submitters ⚠
p.Met313Ile Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Phe101Ser Multiple submitters Inborn genetic diseases ⚠
p.Phe105Val Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type, 1 ⚠
p.Phe35Tyr Multiple submitters Inborn genetic diseases
p.Pro113Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro188Arg Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Pro261Ser Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Pro80Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro92Ser Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Ser207Phe Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type, 1 ⚠
p.Ser246Leu Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type, 1 ⚠
p.Ser45Cys Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Thr156Met Multiple submitters Inborn genetic diseases ⚠
p.Thr254Ile Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Tyr292Cys Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Val164Ala Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Val185Met Multiple submitters Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Val290fs Multiple submitters
c.413+3A>G Single submitter
c.413+4G>A Single submitter
c.413+4G>C Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
c.639+6G>T Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
c.640-12T>A Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 1
c.723+3G>A Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
c.723+4A>G Single submitter
c.*2C>T Single submitter
p.Ala299Thr Single submitter Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Ala305Asp Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Ala320Asp Single submitter Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Ala37Thr Single submitter Inborn genetic diseases ⚠
p.Ala58= Single submitter Ehlers-Danlos syndrome
p.Ala8Thr Single submitter ⚠
p.Ala96Lys Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Arg116Gly Single submitter ⚠
p.Arg116His Single submitter ⚠
p.Arg121Thr Single submitter Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Arg141Gln Single submitter Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Arg244Cys Single submitter ⚠
p.Arg283Lys Single submitter ⚠
p.Arg297Ser Single submitter ⚠
p.Arg59Trp Single submitter Inborn genetic diseases ⚠
p.Arg5Gln Single submitter ⚠
p.Arg5Trp Single submitter ⚠
p.Arg62Ser Single submitter Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Arg6Thr Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Arg94Leu Single submitter Inborn genetic diseases ⚠
p.Asn170Ser Single submitter Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Asn219Ser Single submitter Inborn genetic diseases
p.Asp174Glu Single submitter Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Asp174His Single submitter Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Asp174Tyr Single submitter Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Asp228Glu Single submitter ⚠
p.Asp260Glu Single submitter Inborn genetic diseases ⚠
p.Asp282Asn Single submitter Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Asp56Glu Single submitter Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Cys29Tyr Single submitter Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Gln274Ter Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Glu107Gln Single submitter Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Glu171Gln Single submitter ⚠
p.Glu78Lys Single submitter ⚠
p.Glu82Val Single submitter Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Glu86Asp Single submitter Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Gly19Trp Single submitter Inborn genetic diseases ⚠
p.Gly202Val Single submitter Inborn genetic diseases ⚠
p.Gly223Ser Single submitter Ehlers-Danlos syndrome, spondylodysplastic type, 1 ⚠
p.Gly251Ala Single submitter Inborn genetic diseases ⚠
p.Gly251Arg Single submitter Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Gly63Ala Single submitter ⚠
p.Gly70Ser Single submitter ⚠
p.Gly91Val Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.His114Arg Single submitter ⚠
p.His136Leu Single submitter Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.His162Arg Single submitter Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.His162Gln Single submitter Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.His162Tyr Single submitter Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.His210Pro Single submitter Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.His259Arg Single submitter
p.His93Arg Single submitter Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Leu119Met Single submitter Inborn genetic diseases ⚠
p.Leu131Pro Single submitter Inborn genetic diseases ⚠
p.Leu150Val Single submitter Inborn genetic diseases ⚠
p.Leu169Val Single submitter Inborn genetic diseases ⚠
p.Leu287Val Single submitter ⚠
p.Leu310Phe Single submitter Inborn genetic diseases ⚠
p.Leu314Trp Single submitter Ehlers-Danlos syndrome ⚠
p.Lys253Arg Single submitter Inborn genetic diseases ⚠
p.Lys253Glu Single submitter Ehlers-Danlos syndrome ⚠
p.Lys318Glu Single submitter Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Met161Ile Single submitter Inborn genetic diseases ⚠
p.Met313Arg Single submitter Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Met313Lys Single submitter Inborn genetic diseases ⚠
p.Met313Val Single submitter Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Phe105Leu Single submitter ⚠
p.Phe149Cys Single submitter ⚠
p.Phe149Ile Single submitter Inborn genetic diseases ⚠
p.Phe149Tyr Single submitter Inborn genetic diseases ⚠
p.Phe221Ser Single submitter Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Phe32Ile Single submitter Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Phe44del Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Phe44Leu Single submitter ⚠
p.Pro100Arg Single submitter ⚠
p.Pro12Leu Single submitter ⚠
p.Pro168fs Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Pro188Ala Single submitter Inborn genetic diseases ⚠
p.Pro188Leu Single submitter ⚠
p.Pro245Ser Single submitter Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Pro72Ala Single submitter ⚠
p.Pro72Ser Single submitter Inborn genetic diseases ⚠
p.Pro76Ser Single submitter Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Pro76Thr Single submitter ⚠
p.Pro81Leu Single submitter ⚠
p.Pro81Ser Single submitter
p.Pro92Arg Single submitter Inborn genetic diseases ⚠
p.Pro92Leu Single submitter Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Ser152Gly Single submitter ⚠
p.Ser152Thr Single submitter Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Ser155Arg Single submitter Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Ser18Cys Single submitter Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Ser22Phe Single submitter Inborn genetic diseases ⚠
p.Ser30Phe Single submitter Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Ser45Phe Single submitter Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Ser52Ile Single submitter ⚠
p.Ser54Cys Single submitter ⚠
p.Ser69= Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Ser89Phe Single submitter Inborn genetic diseases ⚠
p.Thr250Ser Single submitter Inborn genetic diseases ⚠
p.Thr308Ala Single submitter Inborn genetic diseases ⚠
p.Thr321Ile Single submitter Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Trp263Arg Single submitter Inborn genetic diseases ⚠
p.Trp323Arg Single submitter Ehlers-Danlos syndrome ⚠
p.Trp323Cys Single submitter ⚠
p.Tyr129Cys Single submitter ⚠
p.Tyr158Cys Single submitter ⚠
p.Tyr211Phe Single submitter Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Val110Gly Single submitter Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Val110Ile Single submitter ⚠
p.Val130Met Single submitter Inborn genetic diseases ⚠
p.Val134Ala Single submitter Inborn genetic diseases ⚠
p.Val134Met Single submitter Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Val164Ile Single submitter Inborn genetic diseases ⚠
p.Val185Leu Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Val200Phe Single submitter ⚠
p.Val290Ala Single submitter Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Val294_Ala295insGluValAspTer Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Val309fs Single submitter Ehlers-Danlos syndrome, spondylodysplastic type
p.Val31Ile Single submitter ⚠
p.Val36Met Single submitter Ehlers-Danlos syndrome, spondylodysplastic type ⚠
p.Val57Ala Single submitter Ehlers-Danlos syndrome, spondylodysplastic type ⚠