COL1A2 — 2625 ClinVar variants

All ClinVar germline COL1A2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 767 flagged for review →

395 Pathogenic · 97 Pathogenic/Likely pathogenic · 232 Likely pathogenic · 118 Conflicting · 104 Benign · 46 Benign/Likely benign · 779 Likely benign · 854 Uncertain significance

Full COL1A2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 767

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 6

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

COL1A2 p.Ala1119Thr Pathogenic/Likely pathogenic Multiple submitters
Cardiovascular phenotype
COL1A2 p.Gly1102Ala Pathogenic/Likely pathogenic Multiple submitters
osteogenesis imperfecta type 4
COL1A2 p.Ala1119Val Likely pathogenic Single submitter
COL1A2-related disorder
COL1A2 p.Leu873Pro Likely pathogenic Single submitter
Ehlers-Danlos syndrome, cardiac valvular type
COL1A2 p.Met93Ile Pathogenic Single submitter
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Ser251Phe Likely pathogenic No assertion criteria
osteogenesis imperfecta type 4

Predictors agree, ClinVar conflicts 38

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

COL1A2 p.Ala1119Pro Conflicting Single submitter
osteogenesis imperfecta type 1
COL1A2 p.Ala1289Pro Conflicting Single submitter
Cardiovascular phenotype
COL1A2 p.Ala387Pro Conflicting Single submitter
Cardiovascular phenotype
COL1A2 p.Arg1205Trp Conflicting Single submitter
osteogenesis imperfecta type 1
COL1A2 p.Arg1258Cys Conflicting Single submitter
Cardiovascular phenotype
COL1A2 p.Arg1258Ser Conflicting Single submitter
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Arg224His Conflicting Single submitter
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Arg708Gln Conflicting Single submitter
connective tissue disorder
COL1A2 p.Asn528Ser Conflicting Single submitter
Cardiovascular phenotype
COL1A2 p.Asn723Ser Conflicting Single submitter
Ehlers-Danlos syndrome, arthrochalasia type, 2
COL1A2 p.Asn918Ser Conflicting Single submitter
Cardiovascular phenotype
COL1A2 p.Asp1113Asn Conflicting Single submitter
osteogenesis imperfecta type 1
COL1A2 p.Cys1317Tyr Conflicting Single submitter
osteogenesis imperfecta type 1
COL1A2 p.Cys18Gly Conflicting Single submitter
osteogenesis imperfecta type 1
COL1A2 p.Gly100Ser Conflicting Single submitter
COL1A2-related disorder
COL1A2 p.Gly163Ser Conflicting Single submitter
osteogenesis imperfecta type 1
COL1A2 p.Gly259Ala Conflicting Single submitter
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Gly289Ala Conflicting Single submitter
osteogenesis imperfecta
COL1A2 p.Gly39Arg Conflicting Single submitter
Cardiovascular phenotype
COL1A2 p.Gly415Val Conflicting Single submitter
osteogenesis imperfecta type 3
COL1A2 p.Gly475Ser Conflicting Single submitter
Cardiovascular phenotype
COL1A2 p.Gly508Ser Conflicting Single submitter
osteogenesis imperfecta type 4
COL1A2 p.Gly538Asp Conflicting Single submitter
osteogenesis imperfecta
COL1A2 p.Gly550Ser Conflicting Single submitter
osteogenesis imperfecta type 1
COL1A2 p.Gly694Ser Conflicting Single submitter
osteogenesis imperfecta type 1
COL1A2 p.Gly943Arg Conflicting Single submitter
osteogenesis imperfecta type 1
COL1A2 p.Gly961Val Conflicting Single submitter
osteogenesis imperfecta type 1
COL1A2 p.His1070Pro Conflicting Single submitter
Cardiovascular phenotype
COL1A2 p.Ile480Thr Conflicting Single submitter
osteogenesis imperfecta type 1
COL1A2 p.Ile492Val Conflicting Single submitter
Cardiovascular phenotype
COL1A2 p.Leu452Phe Conflicting Single submitter
Cardiovascular phenotype
COL1A2 p.Pro1016His Conflicting Single submitter
osteogenesis imperfecta type 2
COL1A2 p.Pro770Leu Conflicting Single submitter
osteoporosis
COL1A2 p.Ser1247Tyr Conflicting Single submitter
osteogenesis imperfecta type 1
COL1A2 p.Ser1295Pro Conflicting Single submitter
Ehlers-Danlos syndrome, arthrochalasia type, 2
COL1A2 p.Ser878Leu Conflicting Single submitter
osteogenesis imperfecta type 1
COL1A2 p.Val1226Ile Conflicting Single submitter
Cardiovascular phenotype
COL1A2 p.Val416Ile Conflicting Single submitter
Ehlers-Danlos syndrome, classic type, 1

Predicted LoF vs a conflicting call 3

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.

COL1A2 c.2026-1_2042dup Conflicting Single submitter
osteogenesis imperfecta type 1
COL1A2 p.Gly571fs Conflicting Single submitter
Cardiovascular phenotype
COL1A2 p.Val987fs Conflicting Single submitter
Ehlers-Danlos syndrome, classic type, 1

Predictors lean, ClinVar uncertain 323

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 323

COL1A2 p.Ala1035Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
COL1A2 p.Ala260Val Uncertain significance Multiple submitters
connective tissue disorder
COL1A2 p.Ala390Pro Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Ala564Pro Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Ala564Thr Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Ala699Pro Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Ala843Thr Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Ala852Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
COL1A2 p.Ala852Thr Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Ala905Ser Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Ala960Val Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Arg1053Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
COL1A2 p.Arg1080Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
COL1A2 p.Arg1123His Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Arg1123Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
COL1A2 p.Arg1161Cys Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Arg1161Leu Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Arg1164His Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Arg132Cys Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Arg1338Cys Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Arg1338His Uncertain significance Multiple submitters
Cardiovascular phenotype
COL1A2 p.Arg152Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
COL1A2 p.Arg234Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
COL1A2 p.Arg327Cys Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Arg423Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
COL1A2 p.Arg440Cys Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Arg519Gln Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Arg591Cys Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Arg675Cys Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Arg693Trp Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Arg714Cys Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Arg714Leu Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Arg714Ser Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Arg794Gln Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Arg822Cys Uncertain significance Multiple submitters
combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
COL1A2 p.Arg882Cys Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Arg906Cys Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Arg926Cys Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Arg948Cys Uncertain significance Multiple submitters
osteogenesis imperfecta type 2
COL1A2 p.Arg948Ser Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Arg978Cys Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Asn1144His Uncertain significance Multiple submitters
Rare disease with thoracic aortic aneurysm and aortic dissection
COL1A2 p.Asn1158Thr Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Asn1285Ser Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Asn183Ser Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Asn299Thr Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Asn359Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
COL1A2 p.Asn435Lys Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Asn723Ile Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Asp1007Asn Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, arthrochalasia type, 2
COL1A2 p.Asp1136Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
COL1A2 p.Asp1165Asn Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Asp525Tyr Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Asp53Asn Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Asp692Asn Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Asp933Asn Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Cys18Arg Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, cardiac valvular type
COL1A2 p.Gln1354Arg Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Gln212Pro Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Gln734Glu Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Glu1249Asp Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Glu155Lys Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Glu356Asp Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Glu644Lys Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Glu656Lys Uncertain significance Multiple submitters
COL1A2 p.Glu695Lys Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Glu881Ala Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Gly1185Glu Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Gly1294Arg Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Gly542Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
COL1A2 p.Gly74Ser Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Gly85Val Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.His512Gln Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.His576Arg Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Ile1034Val Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Ile1349Val Uncertain significance Multiple submitters
Cardiovascular phenotype
COL1A2 p.Ile249Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
COL1A2 p.Ile459Thr Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Ile473Thr Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Ile492Thr Uncertain significance Multiple submitters
osteogenesis imperfecta
COL1A2 p.Ile803Val Uncertain significance Multiple submitters
Cardiovascular phenotype
COL1A2 p.Ile899Thr Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Leu1313Pro Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Leu662Pro Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Leu897Pro Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Lys177Asn Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Lys177Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
COL1A2 p.Lys198Arg Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Lys264Glu Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Met447Val Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Met96Lys Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Met96Val Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, cardiac valvular type
COL1A2 p.Phe167Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
COL1A2 p.Pro1346Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
COL1A2 p.Pro201Thr Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Pro500Ala Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Pro549Ser Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Pro594Ala Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Pro624Ala Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, arthrochalasia type, 2
COL1A2 p.Ser1155Thr Uncertain significance Multiple submitters
COL1A2-related disorder
COL1A2 p.Ser1236Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
COL1A2 p.Thr1202Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
COL1A2 p.Thr1231Ala Uncertain significance Multiple submitters
combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
COL1A2 p.Thr339Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
COL1A2 p.Thr501Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
COL1A2 p.Thr786Pro Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Tyr1178His Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Val1135Ala Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Val1135Phe Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Val159Ile Uncertain significance Multiple submitters
osteogenesis imperfecta
COL1A2 p.Val225Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
COL1A2 p.Val285Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
COL1A2 p.Val294Ile Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Val468Ile Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Val627Ala Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Val752Gly Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Val834Ile Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Val86Leu Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Ala1056Pro Uncertain significance Single submitter
osteogenesis imperfecta type 1
COL1A2 p.Ala117Val Uncertain significance Single submitter
osteogenesis imperfecta type 1
COL1A2 p.Ala1206Pro Uncertain significance Single submitter
osteogenesis imperfecta type 1
COL1A2 p.Ala1206Ser Uncertain significance Single submitter
Cardiovascular phenotype
COL1A2 p.Ala1261Asp Uncertain significance Single submitter
COL1A2 p.Ala129Thr Uncertain significance Single submitter
COL1A2 p.Ala1345Thr Uncertain significance Single submitter
COL1A2-related disorder
COL1A2 p.Ala1352Asp Uncertain significance Single submitter
COL1A2 p.Ala194Val Uncertain significance Single submitter
osteogenesis imperfecta type 1
COL1A2 p.Ala203Pro Uncertain significance Single submitter
COL1A2 p.Ala20Thr Uncertain significance Single submitter
osteogenesis imperfecta type 1
COL1A2 p.Ala227Ser Uncertain significance Single submitter
COL1A2 p.Ala260Thr Uncertain significance Single submitter
osteogenesis imperfecta type 1
COL1A2 p.Ala273Thr Uncertain significance Single submitter
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Ala279Pro Uncertain significance Single submitter
osteogenesis imperfecta type 1
COL1A2 p.Ala311Ser Uncertain significance Single submitter
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Ala320Ser Uncertain significance Single submitter
COL1A2 p.Ala410Ser Uncertain significance Single submitter
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Ala414Thr Uncertain significance Single submitter
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Ala429Pro Uncertain significance Single submitter
Cardiovascular phenotype
COL1A2 p.Ala513Val Uncertain significance Single submitter
COL1A2 p.Ala516Ser Uncertain significance Single submitter
osteogenesis imperfecta type 1
COL1A2 p.Ala648Val Uncertain significance Single submitter
osteogenesis imperfecta type 1
COL1A2 p.Ala732Thr Uncertain significance Single submitter
osteogenesis imperfecta type 1
COL1A2 p.Ala737Val Uncertain significance Single submitter
Cardiovascular phenotype
COL1A2 p.Ala743Pro Uncertain significance Single submitter
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Ala843Pro Uncertain significance Single submitter
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Arg1067Leu Uncertain significance Single submitter
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Arg1123Pro Uncertain significance Single submitter
osteogenesis imperfecta type 1
COL1A2 p.Arg1161His Uncertain significance Single submitter
osteogenesis imperfecta type 1
COL1A2 p.Arg1164Cys Uncertain significance Single submitter
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Arg152Leu Uncertain significance Single submitter
Ehlers-Danlos syndrome, classic type, 1

Predictors split 397

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 397

COL1A2 p.Ala104Thr Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Ala164Thr Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Ala215Val Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Ala227Thr Likely benign Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Ala279Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
COL1A2 p.Ala462Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
COL1A2 p.Ala530Ser Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Ala629Asp Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Ala633Gly Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Ala774Ser Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Ala774Val Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Ala855Thr Benign/Likely benign Multiple submitters
Ehlers-Danlos syndrome, arthrochalasia type, 2
COL1A2 p.Ala869Thr Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Ala911Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
COL1A2 p.Ala962Ser Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Ala990Asp Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Ala990Ser Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Arg1005Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
COL1A2 p.Arg1123Cys Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Arg1258His Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Arg132His Uncertain significance Multiple submitters
connective tissue disorder
COL1A2 p.Arg180Lys Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Arg234His Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Arg282His Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Arg38Ser Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Arg405His Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Arg41Cys Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Arg41His Benign/Likely benign Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Arg423His Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Arg440His Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Arg675His Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Arg675Pro Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Arg693Gln Benign/Likely benign Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Arg708Pro Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Arg708Trp Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Arg714His Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Arg777His Uncertain significance Multiple submitters
Cardiovascular phenotype
COL1A2 p.Arg819Cys Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Arg822His Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Arg882His Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Arg906His Uncertain significance Multiple submitters
Cardiovascular phenotype
COL1A2 p.Arg938His Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Arg948His Uncertain significance Multiple submitters
combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
COL1A2 p.Arg978His Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Asn1262Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
COL1A2 p.Asn1322His Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Asp1120Asn Pathogenic/Likely pathogenic Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Asp1297Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
COL1A2 p.Asp474Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
COL1A2 p.Asp939Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
COL1A2 p.Gln1237Arg Uncertain significance Multiple submitters
connective tissue disorder
COL1A2 p.Glu488Asp Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Glu749Gln Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Gly1102Ser Pathogenic Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Gly1350Ser Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Gly1351Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
COL1A2 p.Gly33Val Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, arthrochalasia type, 2
COL1A2 p.Gly36Arg Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Gly89Arg Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.His944Tyr Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Ile1211Thr Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Ile1329Met Uncertain significance Multiple submitters
COL1A2-related disorder
COL1A2 p.Ile1360Val Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Leu1254Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
COL1A2 p.Leu407Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
COL1A2 p.Leu470Phe Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Lys1326Met Uncertain significance Multiple submitters
Cardiovascular phenotype
COL1A2 p.Lys1332Ile Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Lys506Gln Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Met1279Val Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Pro102Thr Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Pro1061Thr Uncertain significance Multiple submitters
connective tissue disorder
COL1A2 p.Pro1071Thr Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, arthrochalasia type, 2
COL1A2 p.Pro1076Ser Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, arthrochalasia type
COL1A2 p.Pro1094Ser Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Pro1095Ser Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Pro110Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
COL1A2 p.Pro116Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
COL1A2 p.Pro123His Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Pro128Ser Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Pro1362Ser Uncertain significance Multiple submitters
COL1A2 p.Pro150Leu Uncertain significance Multiple submitters
COL1A2 p.Pro168Ser Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Pro171Ser Uncertain significance Multiple submitters
osteogenesis imperfecta type 2
COL1A2 p.Pro201Leu Uncertain significance Multiple submitters
COL1A2 p.Pro261Thr Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Pro278Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
COL1A2 p.Pro297Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
COL1A2 p.Pro324Ser Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Pro350Ser Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Pro419Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
COL1A2 p.Pro444Leu Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Pro477Leu Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Pro49Thr Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Pro50Ser Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Pro50Thr Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Pro534Leu Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Pro552Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
COL1A2 p.Pro602Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
COL1A2 p.Pro614His Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Pro638Ser Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Pro642Leu Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Pro684Ser Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Pro810Ser Uncertain significance Multiple submitters
COL1A2 p.Pro840Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
COL1A2 p.Pro857Ser Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, arthrochalasia type, 2
COL1A2 p.Pro857Thr Benign/Likely benign Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Pro936Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
COL1A2 p.Pro998Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
COL1A2 p.Ser353Phe Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Ser422Cys Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Thr1148Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
COL1A2 p.Thr501Asn Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Trp1216Leu Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Tyr1117Cys Pathogenic/Likely pathogenic Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Val1047Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
COL1A2 p.Val1047Met Benign/Likely benign Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Val240Met Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Val243Met Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Val270Ile Benign/Likely benign Multiple submitters
connective tissue disorder
COL1A2 p.Val317Ile Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Val626Met Uncertain significance Multiple submitters
osteogenesis imperfecta type 1
COL1A2 p.Val681Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
COL1A2 p.Val759Ile Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Val969Met Uncertain significance Multiple submitters
Cardiovascular phenotype
COL1A2 p.Val987Ile Uncertain significance Multiple submitters
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Ala1043Thr Conflicting Single submitter
osteogenesis imperfecta type 1
COL1A2 p.Ala1213Asp Uncertain significance Single submitter
COL1A2 p.Ala1261Gly Uncertain significance Single submitter
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Ala1289Gly Uncertain significance Single submitter
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Ala1289Ser Uncertain significance Single submitter
Cardiovascular phenotype
COL1A2 p.Ala131Val Uncertain significance Single submitter
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Ala215Gly Uncertain significance Single submitter
Cardiovascular phenotype
COL1A2 p.Ala273Gly Uncertain significance Single submitter
osteogenesis imperfecta type 2
COL1A2 p.Ala273Ser Uncertain significance Single submitter
osteogenesis imperfecta type 1
COL1A2 p.Ala279Gly Uncertain significance Single submitter
osteogenesis imperfecta type 1
COL1A2 p.Ala311Val Uncertain significance Single submitter
Cardiovascular phenotype
COL1A2 p.Ala336Ser Uncertain significance Single submitter
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Ala341Val Uncertain significance Single submitter
COL1A2 p.Ala351Thr Conflicting Single submitter
Ehlers-Danlos syndrome, arthrochalasia type, 2
COL1A2 p.Ala425Thr Uncertain significance Single submitter
combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
COL1A2 p.Ala462Ser Uncertain significance Single submitter
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Ala483Asp Uncertain significance Single submitter
osteogenesis imperfecta type 1
COL1A2 p.Ala485Thr Uncertain significance Single submitter
COL1A2 p.Ala521Val Uncertain significance Single submitter
osteogenesis imperfecta type 1
COL1A2 p.Ala585Val Uncertain significance Single submitter
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Ala680Thr Uncertain significance Single submitter
COL1A2 p.Ala683Thr Uncertain significance Single submitter
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Ala698Ser Uncertain significance Single submitter
Ehlers-Danlos syndrome, classic type, 1
COL1A2 p.Ala705Ser Uncertain significance Single submitter
Ehlers-Danlos syndrome, classic type, 1

All COL1A2 variants

Pathogenic 395

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

c.1197+5G>A Multiple submitters Ehlers-Danlos syndrome, classic type, 1
c.1503+1G>C Multiple submitters Ehlers-Danlos syndrome, classic type, 1
c.1557+3A>G Multiple submitters Inborn genetic diseases
c.1971+1G>A Multiple submitters
c.2133+6T>A Multiple submitters osteogenesis imperfecta type 2
c.2295+1G>A Multiple submitters osteogenesis imperfecta type 1
c.2296-2A>G Multiple submitters
c.2565+1G>A Multiple submitters Ehlers-Danlos syndrome, classic type, 1
c.279+1G>C Multiple submitters Ehlers-Danlos syndrome, classic type, 1
c.2835+1G>A Multiple submitters Ehlers-Danlos syndrome, classic type, 1
c.2943+1_2943+2del Multiple submitters osteogenesis imperfecta type 2
c.432+1G>C Multiple submitters osteogenesis imperfecta type 1
c.487-4_501del Multiple submitters osteogenesis imperfecta type 1
p.Gly1093Arg Multiple submitters osteogenesis imperfecta type 1
p.Gly1102Asp Multiple submitters osteogenesis imperfecta type 1
p.Gly1102Ser Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Gly1102Val Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Gly112Val Multiple submitters osteogenesis imperfecta type 1
p.Gly118Val Multiple submitters osteogenesis imperfecta type 1
p.Gly124Asp Multiple submitters
p.Gly130Asp Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Gly136Asp Multiple submitters osteogenesis imperfecta type 1
p.Gly166Val Multiple submitters osteogenesis imperfecta type 1
p.Gly193Cys Multiple submitters osteogenesis imperfecta type 4
p.Gly193Ser Multiple submitters combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
p.Gly196Cys Multiple submitters osteogenesis imperfecta type 1
p.Gly202Arg Multiple submitters
p.Gly202Asp Multiple submitters osteogenesis imperfecta type 1
p.Gly211Asp Multiple submitters COL1A2-related disorder
p.Gly253Asp Multiple submitters osteogenesis imperfecta type 4
p.Gly256Val Multiple submitters osteogenesis imperfecta type 1
p.Gly265Asp Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Gly268Glu Multiple submitters osteogenesis imperfecta type 1
p.Gly271Asp Multiple submitters osteogenesis imperfecta type 1
p.Gly274Val Multiple submitters osteogenesis imperfecta type 1
p.Gly277Ala Multiple submitters osteogenesis imperfecta type 1
p.Gly280Ser Multiple submitters osteogenesis imperfecta type 1
p.Gly286fs Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Gly286Ser Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Gly292Arg Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Gly292Ser Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Gly310Ser Multiple submitters osteogenesis imperfecta type 2
p.Gly319Glu Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Gly328Ser Multiple submitters COL1A2-related disorder
p.Gly337Ser Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Gly349Ser Multiple submitters osteogenesis imperfecta type 1
p.Gly358Ser Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Gly367Arg Multiple submitters osteogenesis imperfecta type 1
p.Gly370Val Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Gly376Val Multiple submitters osteogenesis imperfecta type 2
p.Gly379Glu Multiple submitters osteogenesis imperfecta type 2
p.Gly388Val Multiple submitters osteogenesis imperfecta type 2
p.Gly400Asp Multiple submitters osteogenesis imperfecta type 3
p.Gly403Arg Multiple submitters osteogenesis imperfecta
p.Gly424Ser Multiple submitters osteogenesis imperfecta type 1
p.Gly427Ser Multiple submitters osteogenesis imperfecta type 1
p.Gly454Cys Multiple submitters osteogenesis imperfecta type 2
p.Gly460Ser Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Gly481Arg Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Gly493Glu Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Gly499Ser Multiple submitters osteogenesis imperfecta type 4
p.Gly505Ser Multiple submitters osteogenesis imperfecta type 1
p.Gly508Val Multiple submitters osteogenesis imperfecta type 3
p.Gly517Ser Multiple submitters osteogenesis imperfecta type 1
p.Gly517Val Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Gly553Asp Multiple submitters
p.Gly592Ser Multiple submitters osteogenesis imperfecta type 2
p.Gly601Ser Multiple submitters osteogenesis imperfecta type 4
p.Gly631Asp Multiple submitters osteogenesis imperfecta type 1
p.Gly631Val Multiple submitters osteogenesis imperfecta type 1
p.Gly658Cys Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Gly661Arg Multiple submitters osteogenesis imperfecta type 4
p.Gly664Arg Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Gly664Val Multiple submitters osteogenesis imperfecta type 4
p.Gly694Asp Multiple submitters osteogenesis imperfecta type 1
p.Gly700Arg Multiple submitters osteogenesis imperfecta type 1
p.Gly700Cys Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Gly718Ser Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Gly736Cys Multiple submitters osteogenesis imperfecta
p.Gly745Arg Multiple submitters osteogenesis imperfecta type 1
p.Gly766Ser Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Gly769Cys Multiple submitters osteogenesis imperfecta type 1
p.Gly787Cys Multiple submitters osteogenesis imperfecta type 1
p.Gly796Ala Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Gly802Asp Multiple submitters
p.Gly859Ser Multiple submitters osteogenesis imperfecta type 1
p.Gly880Ser Multiple submitters osteogenesis imperfecta type 1
p.Gly937Cys Multiple submitters osteogenesis imperfecta type 4
p.Gly940Val Multiple submitters osteogenesis imperfecta type 3
p.Gly949Ser Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Lys264= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Pro1092fs Multiple submitters Ehlers-Danlos syndrome, cardiac valvular type
c.1036-1G>T Single submitter Ehlers-Danlos syndrome, classic type, 1
c.1081_1090-55del Single submitter
c.1197+5G>C Single submitter osteogenesis imperfecta type 1
c.1503+2T>A Single submitter osteogenesis imperfecta type 1
c.1863+1G>A Single submitter osteogenesis imperfecta type 2
c.1971+1G>C Single submitter osteogenesis imperfecta
c.2133+6_2133+8delinsAAC Single submitter
c.2187+1G>C Single submitter osteogenesis imperfecta type 2
c.226-1G>T Single submitter
c.2565+1G>C Single submitter osteogenesis imperfecta type 1
c.2565+2T>A Single submitter osteogenesis imperfecta type 1
c.2565+3_2565+6del Single submitter osteogenesis imperfecta type 1
c.2673+1G>A Single submitter
c.2673+1G>T Single submitter osteogenesis imperfecta type 1
c.2674-3T>G Single submitter Ehlers-Danlos syndrome, classic type
c.279+1G>A Single submitter Ehlers-Danlos syndrome
c.279+2T>C Single submitter osteogenesis imperfecta type 1
c.2835+1G>T Single submitter osteogenesis imperfecta type 1
c.2837delG Single submitter Ehlers-Danlos syndrome, cardiac valvular type
c.3527-1G>T Single submitter
c.432+1G>T Single submitter osteogenesis imperfecta type 1
c.432+5G>A Single submitter osteogenesis imperfecta type 1
c.433-1G>C Single submitter osteogenesis imperfecta type 1
c.486+1G>A Single submitter Ehlers-Danlos syndrome, classic type, 1
c.487-183_594+240del Single submitter osteogenesis imperfecta type 1
c.693+1G>A Single submitter osteogenesis imperfecta type 1
c.693+1G>C Single submitter osteogenesis imperfecta type 1
c.693+2T>A Single submitter Ehlers-Danlos syndrome, classic type, 1
c.693+2T>C Single submitter osteogenesis imperfecta type 1
c.694-1G>C Single submitter Ehlers-Danlos syndrome, classic type, 1
c.694-2A>C Single submitter
c.694-2A>G Single submitter osteogenesis imperfecta type 1
c.739-2A>T Single submitter
c.792+1G>A Single submitter Ehlers-Danlos syndrome, classic type, 1
c.792+1G>C Single submitter Ehlers-Danlos syndrome, classic type, 1
c.792+3A>T Single submitter osteogenesis imperfecta type 1
p.Ala135_Pro138del Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Ala320_Gly325dup Single submitter osteogenesis imperfecta
p.Arg1080Ter Single submitter osteogenesis imperfecta type 1
p.Arg152Ter Single submitter osteogenesis imperfecta type 1
p.Arg432Ter Single submitter osteogenesis imperfecta type 1
p.Asn507fs Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Asp1120Gly Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Asp1165Glu Single submitter osteogenesis imperfecta type 1
p.Cys1195Ser Single submitter osteogenesis imperfecta type 1
p.Cys1272Phe Single submitter osteogenesis imperfecta type 1
p.Cys1272Ser Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Cys1272Tyr Single submitter osteogenesis imperfecta type 4
p.Glu713Ter Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly1006Ser Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly1012Arg Single submitter osteogenesis imperfecta type 4
p.Gly1015Glu Single submitter Ehlers-Danlos syndrome, arthrochalasia type, 2
p.Gly1027Arg Single submitter
p.Gly1027Glu Single submitter
p.Gly1030Ser Single submitter osteogenesis imperfecta type 4
p.Gly1036Arg Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly1036Val Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly1042Ser Single submitter osteogenesis imperfecta type 1
p.Gly1048Asp Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly1057Asp Single submitter osteogenesis imperfecta type 1
p.Gly1066Val Single submitter
p.Gly1078Asp Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly1084Asp Single submitter osteogenesis imperfecta type 4
p.Gly1093Ala Single submitter osteogenesis imperfecta type 4
p.Gly1093Asp Single submitter
p.Gly1093fs Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly1093Ser Single submitter osteogenesis imperfecta type 4
p.Gly1096Ala Single submitter
p.Gly1096Asp Single submitter osteogenesis imperfecta type 1
p.Gly1096Ser Single submitter Ehlers-Danlos syndrome, classic type
p.Gly112Asp Single submitter osteogenesis imperfecta type 1
p.Gly115Arg Single submitter osteogenesis imperfecta type 1
p.Gly118Asp Single submitter osteogenesis imperfecta type 1
p.Gly121Asp Single submitter osteogenesis imperfecta type 1
p.Gly127Asp Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly145Asp Single submitter osteogenesis imperfecta type 1
p.Gly181Glu Single submitter osteogenesis imperfecta type 1
p.Gly187Glu Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly187Val Single submitter
p.Gly190Arg Single submitter osteogenesis imperfecta type 4
p.Gly190Val Single submitter osteogenesis imperfecta type 1
p.Gly193Arg Single submitter osteogenesis imperfecta type 1
p.Gly196Arg Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly196Ser Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly196Val Single submitter osteogenesis imperfecta type 1
p.Gly199Arg Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly229Asp Single submitter osteogenesis imperfecta type 3
p.Gly244Asp Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly247Arg Single submitter osteogenesis imperfecta type 1
p.Gly247Asp Single submitter osteogenesis imperfecta type 3
p.Gly253Val Single submitter osteogenesis imperfecta type 1
p.Gly256Asp Single submitter osteogenesis imperfecta type 1
p.Gly256Ser Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly259Cys Single submitter osteogenesis imperfecta type 1
p.Gly265Arg Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly265Ser Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly271Arg Single submitter osteogenesis imperfecta type 4
p.Gly274Arg Single submitter osteogenesis imperfecta type 4
p.Gly274Asp Single submitter osteogenesis imperfecta type 1
p.Gly277Val Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly280Ala Single submitter osteogenesis imperfecta type 1
p.Gly283Cys Single submitter osteogenesis imperfecta type 4
p.Gly283Ser Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly286Cys Single submitter osteogenesis imperfecta type 1
p.Gly289Asp Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly292Val Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly298Cys Single submitter osteogenesis imperfecta type 4
p.Gly298Val Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly301Arg Single submitter osteogenesis imperfecta type 1
p.Gly301Glu Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly304Val Single submitter osteogenesis imperfecta type 1
p.Gly307Asp Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly310Arg Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly310Val Single submitter osteogenesis imperfecta type 1
p.Gly313Cys Single submitter osteogenesis imperfecta type 1
p.Gly319Arg Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly325Val Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly328Asp Single submitter
p.Gly328Val Single submitter
p.Gly334Val Single submitter osteogenesis imperfecta type 1
p.Gly337Ala Single submitter osteogenesis imperfecta type 1
p.Gly337Cys Single submitter osteogenesis imperfecta type 1
p.Gly337Val Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly340Ala Single submitter osteogenesis imperfecta type 4
p.Gly340Arg Single submitter osteogenesis imperfecta type 3
p.Gly346Val Single submitter
p.Gly349Arg Single submitter osteogenesis imperfecta type 1
p.Gly349Cys Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly361Arg Single submitter osteogenesis imperfecta type 4
p.Gly364Asp Single submitter
p.Gly370Asp Single submitter
p.Gly370Cys Single submitter
p.Gly370Ser Single submitter osteogenesis imperfecta type 3
p.Gly379Val Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly382Ser Single submitter osteogenesis imperfecta type 1
p.Gly385Arg Single submitter osteogenesis imperfecta type 1
p.Gly385Glu Single submitter osteogenesis imperfecta type 1
p.Gly388Arg Single submitter osteogenesis imperfecta type 4
p.Gly391Cys Single submitter osteogenesis imperfecta type 1
p.Gly406Ser Single submitter osteogenesis imperfecta type 1
p.Gly418Ser Single submitter
p.Gly430Glu Single submitter Ehlers-Danlos syndrome, classic type
p.Gly439Asp Single submitter
p.Gly442Arg Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly445fs Single submitter osteogenesis imperfecta type 1
p.Gly448Arg Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly454Val Single submitter Inborn genetic diseases
p.Gly463Ala Single submitter osteogenesis imperfecta type 1
p.Gly472Arg Single submitter osteogenesis imperfecta
p.Gly481Cys Single submitter osteogenesis imperfecta type 4
p.Gly484Val Single submitter osteogenesis imperfecta type 1
p.Gly493Val Single submitter osteogenesis imperfecta type 1
p.Gly511Asp Single submitter osteogenesis imperfecta type 1
p.Gly511Ser Single submitter osteogenesis imperfecta type 4
p.Gly517Asp Single submitter
p.Gly520Ser Single submitter osteogenesis imperfecta type 1
p.Gly523Ser Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly529Asp Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly544Ser Single submitter osteogenesis imperfecta type 1
p.Gly553Val Single submitter
p.Gly556Asp Single submitter osteogenesis imperfecta type 1
p.Gly556Cys Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly556Ser Single submitter
p.Gly559Asp Single submitter osteogenesis imperfecta
p.Gly559Ser Single submitter osteogenesis imperfecta type 1
p.Gly562Ser Single submitter osteogenesis imperfecta type 4
p.Gly562Val Single submitter
p.Gly565Ser Single submitter osteogenesis imperfecta type 1
p.Gly568Ser Single submitter
p.Gly586Ala Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly598Val Single submitter
p.Gly604fs Single submitter osteogenesis imperfecta type 1
p.Gly616Arg Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly616Val Single submitter
p.Gly628Asp Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly628Cys Single submitter osteogenesis imperfecta type 2
p.Gly634Ser Single submitter osteogenesis imperfecta type 2
p.Gly646Asp Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly655Arg Single submitter osteogenesis imperfecta type 1
p.Gly655Glu Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly670fs Single submitter
p.Gly673Asp Single submitter osteogenesis imperfecta type 1
p.Gly676Asp Single submitter osteogenesis imperfecta type 1
p.Gly676Val Single submitter osteogenesis imperfecta type 3
p.Gly682Asp Single submitter
p.Gly685_Pro686insAlaValGlyAlaProGly Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly685Asp Single submitter
p.Gly697Trp Single submitter osteogenesis imperfecta type 4
p.Gly700Asp Single submitter
p.Gly712Ser Single submitter osteogenesis imperfecta type 1
p.Gly715Asp Single submitter
p.Gly715Ser Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly727Cys Single submitter osteogenesis imperfecta type 1
p.Gly72fs Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly730Ser Single submitter osteogenesis imperfecta type 1
p.Gly739Arg Single submitter osteogenesis imperfecta type 1
p.Gly742Ter Single submitter
p.Gly751Ser Single submitter osteogenesis imperfecta type 1
p.Gly751Val Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly757Cys Single submitter osteogenesis imperfecta type 4
p.Gly760Arg Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly766Val Single submitter
p.Gly769Arg Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly769Ser Single submitter osteogenesis imperfecta type 1
p.Gly772Cys Single submitter osteogenesis imperfecta
p.Gly775Arg Single submitter osteogenesis imperfecta type 1
p.Gly778Asp Single submitter
p.Gly778del Single submitter osteogenesis imperfecta type 1

Pathogenic/Likely pathogenic 97

c.1035_1035+2del Multiple submitters osteogenesis imperfecta type 3
c.1404+1G>A Multiple submitters Ehlers-Danlos syndrome
c.1503+1G>A Multiple submitters osteogenesis imperfecta type 1
c.2026-2A>G Multiple submitters Ehlers-Danlos syndrome, classic type, 1
c.226-2A>G Multiple submitters osteogenesis imperfecta type 1
c.432+1G>A Multiple submitters Ehlers-Danlos syndrome, classic type, 1
c.432+4_432+7del Multiple submitters osteogenesis imperfecta type 1
c.433-2A>C Multiple submitters osteogenesis imperfecta type 2
c.433-2A>G Multiple submitters Ehlers-Danlos syndrome, classic type
c.594+1G>T Multiple submitters osteogenesis imperfecta type 1
c.595-2A>G Multiple submitters osteogenesis imperfecta
p.Ala1119Thr Multiple submitters Cardiovascular phenotype ⚠
p.Asp1120Asn Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Cys1195Arg Multiple submitters osteogenesis imperfecta type 4
p.Gln1354Ter Multiple submitters osteogenesis imperfecta type 1
p.Gly1012Ser Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Gly1024Arg Multiple submitters COL1A2-related disorder
p.Gly1066Ser Multiple submitters osteogenesis imperfecta type 1
p.Gly1084Cys Multiple submitters Ehlers-Danlos syndrome
p.Gly1087Asp Multiple submitters
p.Gly1093Cys Multiple submitters osteogenesis imperfecta type 1
p.Gly109Asp Multiple submitters combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
p.Gly1102Ala Multiple submitters osteogenesis imperfecta type 4 ⚠
p.Gly130Val Multiple submitters combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
p.Gly151Arg Multiple submitters osteogenesis imperfecta type 1
p.Gly160Arg Multiple submitters osteogenesis imperfecta type 1
p.Gly190Glu Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Gly196Asp Multiple submitters Cardiovascular phenotype
p.Gly199Asp Multiple submitters Inborn genetic diseases
p.Gly205Asp Multiple submitters osteogenesis imperfecta type 2
p.Gly217Glu Multiple submitters COL1A2-related disorder
p.Gly220Asp Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Gly247Cys Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Gly247Ser Multiple submitters Ehlers-Danlos syndrome
p.Gly259Asp Multiple submitters osteogenesis imperfecta type 1
p.Gly259Ser Multiple submitters Cardiovascular phenotype
p.Gly262Asp Multiple submitters osteogenesis imperfecta type 3
p.Gly265Val Multiple submitters COL1A2-related disorder
p.Gly280Cys Multiple submitters osteogenesis imperfecta type 1
p.Gly286Ala Multiple submitters osteogenesis imperfecta type 1
p.Gly292Asp Multiple submitters osteogenesis imperfecta type 4
p.Gly292Cys Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Gly298Ser Multiple submitters osteogenesis imperfecta type 1
p.Gly304Ser Multiple submitters osteogenesis imperfecta
p.Gly316Ser Multiple submitters osteogenesis imperfecta type 1
p.Gly322Ser Multiple submitters osteoporosis
p.Gly331Ser Multiple submitters osteogenesis imperfecta type 4
p.Gly334Asp Multiple submitters osteogenesis imperfecta
p.Gly352Ser Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Gly361Cys Multiple submitters osteogenesis imperfecta
p.Gly361Ser Multiple submitters
p.Gly391Arg Multiple submitters osteogenesis imperfecta
p.Gly391Ser Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Gly400Ala Multiple submitters osteogenesis imperfecta type 1
p.Gly403Asp Multiple submitters Inborn genetic diseases
p.Gly403Cys Multiple submitters osteogenesis imperfecta type 3
p.Gly418Ala Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Gly469Ala Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Gly487Arg Multiple submitters osteogenesis imperfecta type 3
p.Gly499Ala Multiple submitters osteogenesis imperfecta
p.Gly499Val Multiple submitters
p.Gly514Ala Multiple submitters osteogenesis imperfecta type 1
p.Gly526Arg Multiple submitters osteogenesis imperfecta type 1
p.Gly565Ala Multiple submitters osteogenesis imperfecta type 1
p.Gly583Ala Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Gly616Glu Multiple submitters osteogenesis imperfecta type 3
p.Gly622Cys Multiple submitters osteogenesis imperfecta
p.Gly625Cys Multiple submitters osteogenesis imperfecta type 1
p.Gly634Val Multiple submitters Collagen type 1 disorder
p.Gly646Val Multiple submitters osteogenesis imperfecta type 2
p.Gly661Cys Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Gly664Asp Multiple submitters osteogenesis imperfecta type 1
p.Gly676Ala Multiple submitters osteogenesis imperfecta type 1
p.Gly733Cys Multiple submitters osteogenesis imperfecta type 4
p.Gly742Glu Multiple submitters osteogenesis imperfecta
p.Gly754Cys Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Gly763Asp Multiple submitters osteogenesis imperfecta type 2
p.Gly766Arg Multiple submitters osteogenesis imperfecta type 1
p.Gly766Asp Multiple submitters osteogenesis imperfecta
p.Gly772Arg Multiple submitters osteogenesis imperfecta type 1
p.Gly772Ser Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Gly775Glu Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Gly817Glu Multiple submitters osteogenesis imperfecta type 1
p.Gly829Ser Multiple submitters COL1A2-related disorder
p.Gly844Ala Multiple submitters osteogenesis imperfecta type 1
p.Gly901Ser Multiple submitters osteogenesis imperfecta type 1
p.Gly907Ser Multiple submitters osteogenesis imperfecta type 1
p.Gly913Asp Multiple submitters osteogenesis imperfecta type 1
p.Gly919Ser Multiple submitters osteogenesis imperfecta type 1
p.Gly925Asp Multiple submitters combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
p.Gly955Asp Multiple submitters
p.Gly964Asp Multiple submitters osteogenesis imperfecta type 2
p.Gly973Asp Multiple submitters osteogenesis imperfecta type 4
p.Gly982Ser Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Gly997Ser Multiple submitters osteogenesis imperfecta type 4
p.Pro989_Gly991dup Multiple submitters osteogenesis imperfecta type 1
p.Tyr1117Cys Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠

Likely pathogenic 232

p.Cys1272Arg Multiple submitters COL1A2-related disorder
p.Gly184Asp Multiple submitters osteogenesis imperfecta type 1
p.Gly226Asp Multiple submitters osteogenesis imperfecta type 1
p.Gly235Asp Multiple submitters osteogenesis imperfecta type 1
p.Gly262Arg Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Gly304Asp Multiple submitters COL1A2-related disorder
p.Gly325Arg Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Gly598Ala Multiple submitters osteogenesis imperfecta type 1
p.Gly610Ser Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Gly613Arg Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Gly613Glu Multiple submitters osteogenesis imperfecta type 1
p.Gly679Ser Multiple submitters osteogenesis imperfecta type 2
p.Gly685Ser Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Gly778Ala Multiple submitters osteogenesis imperfecta type 1
p.Gly802Val Multiple submitters osteogenesis imperfecta
p.Gly835Asp Multiple submitters osteogenesis imperfecta type 4
p.Gly874Ala Multiple submitters osteogenesis imperfecta type 4
p.Gly892Val Multiple submitters COL1A2-related disorder
p.Gly901Cys Multiple submitters osteogenesis imperfecta type 4
p.Gly904Ala Multiple submitters osteogenesis imperfecta type 1
p.Gly904Glu Multiple submitters Ehlers-Danlos syndrome, cardiac valvular type
p.Gly913Ser Multiple submitters Ehlers-Danlos syndrome
c.1089+1G>A Single submitter osteogenesis imperfecta type 1
c.133-2A>G Single submitter
c.1349_1350+2del Single submitter
c.1504-2A>G Single submitter osteogenesis imperfecta type 4
c.1764+1G>T Single submitter Ehlers-Danlos syndrome, classic type
c.1764+3_1764+6del Single submitter COL1A2-related disorder
c.1765-2del Single submitter osteogenesis imperfecta type 1
c.1863+2T>G Single submitter
c.1971+1G>T Single submitter
c.1972-1G>T Single submitter osteogenesis imperfecta type 2
c.1972-321_2025+141del Single submitter osteogenesis imperfecta type 2
c.2079+1G>A Single submitter COL1A2-related disorder
c.2133+1G>A Single submitter Ehlers-Danlos syndrome, classic type, 1
c.2133+3A>T Single submitter osteogenesis imperfecta
c.2188-1G>T Single submitter
c.2295+5G>A Single submitter osteogenesis imperfecta
c.279+3A>C Single submitter osteogenesis imperfecta type 2
c.280-2A>G Single submitter Ehlers-Danlos syndrome, classic type, 1
c.280-2del Single submitter Ehlers-Danlos syndrome, classic type, 1
c.2943+1G>C Single submitter Ehlers-Danlos syndrome, classic type, 1
c.3106-2del Single submitter osteogenesis imperfecta
c.3159+1G>A Single submitter osteogenesis imperfecta type 1
c.3160-1G>C Single submitter COL1A2-related disorder
c.324+1G>C Single submitter
c.432+2T>A Single submitter osteogenesis imperfecta type 3
c.433-3T>G Single submitter osteogenesis imperfecta type 1
c.486+2T>G Single submitter Ehlers-Danlos syndrome
c.538_540+11del Single submitter osteogenesis imperfecta type 1
c.594+1G>A Single submitter osteoporosis
c.639+1G>T Single submitter
c.639+2T>C Single submitter Ehlers-Danlos syndrome, classic type, 1
p.699AGP[2] Single submitter
p.Ala1119Val Single submitter COL1A2-related disorder ⚠
p.Arg671fs Single submitter Ehlers-Danlos syndrome, arthrochalasia type, 2
p.Asp144Gly Single submitter osteogenesis imperfecta
p.Asp618_Gly619delinsGlu Single submitter osteogenesis imperfecta type 1
p.Cys1195_Thr1199del Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Cys1317Ter Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Glu1355Ter Single submitter osteogenesis imperfecta type 1
p.Glu465del Single submitter osteogenesis imperfecta type 1
p.Glu845fs Single submitter
p.Gly1009Ala Single submitter osteogenesis imperfecta type 1
p.Gly100Asp Single submitter combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
p.Gly100Val Single submitter osteogenesis imperfecta type 1
p.Gly1036Cys Single submitter osteogenesis imperfecta type 1
p.Gly1039Asp Single submitter
p.Gly1039Val Single submitter osteogenesis imperfecta type 2
p.Gly103Asp Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly1045Ser Single submitter osteogenesis imperfecta type 2
p.Gly1051Ala Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly1054Ser Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly1054Val Single submitter COL1A2-related disorder
p.Gly106Glu Single submitter osteogenesis imperfecta type 1
p.Gly1072Val Single submitter osteogenesis imperfecta
p.Gly1078Val Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly1087Val Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly1090Ser Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly109Arg Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly112Ser Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly118Ser Single submitter Ehlers-Danlos syndrome, cardiac valvular type
p.Gly133Val Single submitter osteogenesis imperfecta type 1
p.Gly1361Val Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly142Ser Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly163Val Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly169Arg Single submitter osteogenesis imperfecta type 1
p.Gly169Glu Single submitter
p.Gly172Val Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly175Asp Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly181Arg Single submitter osteogenesis imperfecta type 1
p.Gly202Ser Single submitter osteogenesis imperfecta type 1
p.Gly202Val Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly205Ala Single submitter osteogenesis imperfecta type 1
p.Gly229Ser Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly235Ser Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly238Arg Single submitter osteogenesis imperfecta type 1
p.Gly238Val Single submitter osteogenesis imperfecta
p.Gly244Ser Single submitter Ehlers-Danlos syndrome, cardiac valvular type
p.Gly244Val Single submitter osteogenesis imperfecta type 1
p.Gly250Val Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly259Val Single submitter Ehlers-Danlos syndrome, classic type
p.Gly268Arg Single submitter osteogenesis imperfecta
p.Gly283del Single submitter osteogenesis imperfecta
p.Gly292Ala Single submitter COL1A2-related disorder
p.Gly316Asp Single submitter COL1A2-related disorder
p.Gly328Cys Single submitter
p.Gly340Ser Single submitter combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
p.Gly346Ser Single submitter
p.Gly379Ala Single submitter osteogenesis imperfecta type 1
p.Gly379Arg Single submitter
p.Gly382Asp Single submitter osteogenesis imperfecta type 3
p.Gly403Val Single submitter osteogenesis imperfecta type 1
p.Gly406Cys Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly406del Single submitter osteogenesis imperfecta
p.Gly412Val Single submitter osteogenesis imperfecta type 3
p.Gly430Ala Single submitter osteogenesis imperfecta type 3 ⚠
p.Gly430Arg Single submitter
p.Gly436Arg Single submitter
p.Gly448Glu Single submitter osteogenesis imperfecta type 2
p.Gly466Ser Single submitter
p.Gly469Ser Single submitter osteogenesis imperfecta type 1
p.Gly472Asp Single submitter osteogenesis imperfecta type 2
p.Gly475Asp Single submitter
p.Gly478Cys Single submitter osteogenesis imperfecta type 1
p.Gly493Arg Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly502Asp Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly502Ser Single submitter osteogenesis imperfecta type 1
p.Gly505Ala Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly511Cys Single submitter osteogenesis imperfecta type 2
p.Gly514Asp Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly517_Ala518insLeuAlaGly Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly526Val Single submitter osteogenesis imperfecta type 2
p.Gly535Val Single submitter osteoporosis
p.Gly541Ser Single submitter COL1A2-related disorder ⚠
p.Gly544Arg Single submitter osteoporosis
p.Gly547Val Single submitter osteogenesis imperfecta type 2
p.Gly556Val Single submitter osteogenesis imperfecta
p.Gly562Asp Single submitter
p.Gly57Cys Single submitter
p.Gly592Asp Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly598Asp Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly604Asp Single submitter osteogenesis imperfecta type 1
p.Gly604Ser Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly607Ala Single submitter Ehlers-Danlos syndrome, classic type
p.Gly622Val Single submitter COL1A2-related disorder
p.Gly625Ala Single submitter osteogenesis imperfecta type 1
p.Gly625Ser Single submitter osteogenesis imperfecta
p.Gly667Cys Single submitter osteogenesis imperfecta
p.Gly670Ser Single submitter osteogenesis imperfecta type 1
p.Gly676Ser Single submitter COL1A2-related disorder
p.Gly679Ala Single submitter osteogenesis imperfecta type 1
p.Gly685Cys Single submitter osteogenesis imperfecta type 1
p.Gly688Glu Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly703Cys Single submitter osteogenesis imperfecta type 1
p.Gly715Val Single submitter
p.Gly721Cys Single submitter osteogenesis imperfecta type 3
p.Gly727Arg Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly730Val Single submitter
p.Gly733Ala Single submitter Ehlers-Danlos syndrome, arthrochalasia type, 2
p.Gly736Arg Single submitter Cardiovascular phenotype
p.Gly736Ser Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly742Ala Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly745Glu Single submitter osteogenesis imperfecta type 3
p.Gly748Ser Single submitter osteogenesis imperfecta type 1
p.Gly754Asp Single submitter
p.Gly757Asp Single submitter osteogenesis imperfecta
p.Gly760Val Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly769Val Single submitter osteogenesis imperfecta type 4
p.Gly778_Asp779insGly Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly784Ala Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly802fs Single submitter Ehlers-Danlos syndrome, cardiac valvular type
p.Gly802Ser Single submitter osteogenesis imperfecta type 3
p.Gly808Ala Single submitter osteogenesis imperfecta type 1
p.Gly817Trp Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly832Glu Single submitter COL1A2-related disorder
p.Gly835Val Single submitter COL1A2-related disorder
p.Gly838Ser Single submitter osteogenesis imperfecta type 2
p.Gly853Ala Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Gly877Ser Single submitter osteogenesis imperfecta type 4
p.Gly886Ser Single submitter
p.Gly898Val Single submitter Bruck syndrome 1
p.Gly904Arg Single submitter osteogenesis imperfecta type 2
p.Gly910Asp Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly913Val Single submitter
p.Gly928Val Single submitter osteogenesis imperfecta type 4
p.Gly937Asp Single submitter Ehlers-Danlos syndrome, classic type
p.Gly946Ala Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly94Ser Single submitter osteogenesis imperfecta type 1
p.Gly958Val Single submitter osteogenesis imperfecta
p.Gly967Val Single submitter osteogenesis imperfecta type 1
p.Gly979Arg Single submitter osteogenesis imperfecta type 2
p.Gly988Asp Single submitter osteogenesis imperfecta type 2
p.Gly988Cys Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly997Val Single submitter osteogenesis imperfecta type 3
p.Ile1291fs Single submitter osteogenesis imperfecta type 1
p.Ile1329fs Single submitter
p.Leu873Pro Single submitter Ehlers-Danlos syndrome, cardiac valvular type ⚠
p.Lys264Asn Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Phe1256fs Single submitter
p.Pro1095fs Single submitter osteogenesis imperfecta
p.Pro134fs Single submitter
p.Pro605fs Single submitter
p.Pro812_Ala813insProGlyPro Single submitter osteogenesis imperfecta type 1
p.Pro995_Arg996insAlaGlyAlaValGlyPro Single submitter osteogenesis imperfecta type 3
p.Ser1265Pro Single submitter
p.Ser357fs Single submitter
p.Ser776_Arg777del Single submitter
p.Trp1324Ter Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Val270_Ala273del Single submitter Ehlers-Danlos syndrome, classic type
p.Val681_Pro686del Single submitter
c.2025+6T>C No assertion criteria osteogenesis imperfecta type 2
p.Arg1053= No assertion criteria osteogenesis imperfecta type 4
p.Arg671del No assertion criteria osteogenesis imperfecta type 3
p.Gly1045Asp No assertion criteria osteogenesis imperfecta type 2
p.Gly1048Ser No assertion criteria osteogenesis imperfecta type 1
p.Gly109Ser No assertion criteria COL1A2-related disorder
p.Gly109Val No assertion criteria osteogenesis imperfecta type 2
p.Gly286_Leu287insProArgGlyGluValGly No assertion criteria osteogenesis imperfecta type 1
p.Gly406Asp No assertion criteria COL1A2-related disorder
p.Gly475Val No assertion criteria osteogenesis imperfecta type 1
p.Gly538Ser No assertion criteria osteogenesis imperfecta type 1
p.Gly544Ala No assertion criteria osteogenesis imperfecta type 3
p.Gly544Cys No assertion criteria osteogenesis imperfecta type 2
p.Gly553Cys No assertion criteria osteogenesis imperfecta type 4
p.Gly643Arg No assertion criteria osteogenesis imperfecta type 3
p.Gly691Asp No assertion criteria osteogenesis imperfecta type 1
p.Gly871Ala No assertion criteria osteogenesis imperfecta type 4
p.Gly886Val No assertion criteria osteogenesis imperfecta
p.Gly952Ser No assertion criteria osteogenesis imperfecta type 3
p.Ser251Phe No assertion criteria osteogenesis imperfecta type 4 ⚠
p.Tyr81Cys No assertion criteria osteogenesis imperfecta type 2

Conflicting classifications of pathogenicity 118

c.1036-14G>T Single submitter Ehlers-Danlos syndrome, arthrochalasia type, 2
c.1036-3T>C Single submitter osteogenesis imperfecta type 1
c.1198-12A>G Single submitter connective tissue disorder
c.133-5A>G Single submitter osteogenesis imperfecta type 1
c.1405-3C>T Single submitter osteogenesis imperfecta type 1
c.1611+3_1611+6del Single submitter Ehlers-Danlos syndrome, classic type, 1
c.1611+9T>A Single submitter Ehlers-Danlos syndrome, classic type, 1
c.1765-5T>C Single submitter osteogenesis imperfecta type 1
c.1971+5G>A Single submitter Ehlers-Danlos syndrome, arthrochalasia type, 2
c.2026-1_2042dup Single submitter osteogenesis imperfecta type 1 ⚠
c.2079+3A>G Single submitter osteogenesis imperfecta type 1
c.2079+8T>C Single submitter Ehlers-Danlos syndrome, classic type, 1
c.2566-6A>G Single submitter connective tissue disorder
c.279+12T>C Single submitter osteogenesis imperfecta
c.280-7T>C Single submitter Ehlers-Danlos syndrome, classic type, 1
c.2944-4A>T Single submitter Ehlers-Danlos syndrome, classic type, 1
c.324+15C>T Single submitter osteogenesis imperfecta type 1
c.3527-4A>T Single submitter Ehlers-Danlos syndrome, classic type, 1
c.379-5C>G Single submitter Ehlers-Danlos syndrome, classic type, 1
c.540+8C>T Single submitter Ehlers-Danlos syndrome, classic type, 1
c.639+4_639+7del Single submitter osteogenesis imperfecta type 1
c.693+12C>A Single submitter Ehlers-Danlos syndrome, arthrochalasia type, 2
c.693+5G>A Single submitter combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
c.693+6T>G Single submitter Ehlers-Danlos syndrome
c.71-7T>C Single submitter Ehlers-Danlos syndrome, classic type, 1
c.81+8A>C Single submitter connective tissue disorder
c.891+7A>T Single submitter osteogenesis imperfecta type 1
p.Ala1043Thr Single submitter osteogenesis imperfecta type 1 ⚠
p.Ala1119Pro Single submitter osteogenesis imperfecta type 1 ⚠
p.Ala1264= Single submitter Ehlers-Danlos syndrome, arthrochalasia type, 2
p.Ala1289Pro Single submitter Cardiovascular phenotype ⚠
p.Ala336= Single submitter osteogenesis imperfecta type 1
p.Ala35= Single submitter Cardiovascular phenotype
p.Ala351Thr Single submitter Ehlers-Danlos syndrome, arthrochalasia type, 2 ⚠
p.Ala387Pro Single submitter Cardiovascular phenotype ⚠
p.Ala765= Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Arg1005His Single submitter osteogenesis imperfecta ⚠
p.Arg1205Trp Single submitter osteogenesis imperfecta type 1 ⚠
p.Arg1258Cys Single submitter Cardiovascular phenotype ⚠
p.Arg1258Ser Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Arg216His Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Arg224His Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Arg327His Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Arg38= Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Arg432Gln Single submitter osteogenesis imperfecta type 1 ⚠
p.Arg519Trp Single submitter osteogenesis imperfecta type 1 ⚠
p.Arg708Gln Single submitter connective tissue disorder ⚠
p.Arg794Trp Single submitter osteogenesis imperfecta type 4 ⚠
p.Arg819His Single submitter Ehlers-Danlos syndrome, arthrochalasia type, 2 ⚠
p.Arg926His Single submitter osteogenesis imperfecta type 1 ⚠
p.Asn1285His Single submitter Cardiovascular phenotype ⚠
p.Asn528Ser Single submitter Cardiovascular phenotype ⚠
p.Asn723Ser Single submitter Ehlers-Danlos syndrome, arthrochalasia type, 2 ⚠
p.Asn918Ser Single submitter Cardiovascular phenotype ⚠
p.Asp1113Asn Single submitter osteogenesis imperfecta type 1 ⚠
p.Asp933= Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Cys1317Tyr Single submitter osteogenesis imperfecta type 1 ⚠
p.Cys18Gly Single submitter osteogenesis imperfecta type 1 ⚠
p.Gln1041= Single submitter osteogenesis imperfecta type 1
p.Gln23= Single submitter osteogenesis imperfecta type 1
p.Glu851= Single submitter Ehlers-Danlos syndrome
p.Gly100= Single submitter Cardiovascular phenotype
p.Gly100Ser Single submitter COL1A2-related disorder ⚠
p.Gly1105Ser Single submitter connective tissue disorder ⚠
p.Gly1361= Single submitter Cardiovascular phenotype
p.Gly163Ser Single submitter osteogenesis imperfecta type 1 ⚠
p.Gly259Ala Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Gly289Ala Single submitter osteogenesis imperfecta ⚠
p.Gly39Arg Single submitter Cardiovascular phenotype ⚠
p.Gly415Val Single submitter osteogenesis imperfecta type 3 ⚠
p.Gly475Ser Single submitter Cardiovascular phenotype ⚠
p.Gly508Ser Single submitter osteogenesis imperfecta type 4 ⚠
p.Gly538Asp Single submitter osteogenesis imperfecta ⚠
p.Gly550Ser Single submitter osteogenesis imperfecta type 1 ⚠
p.Gly562= Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Gly571fs Single submitter Cardiovascular phenotype ⚠
p.Gly694Ser Single submitter osteogenesis imperfecta type 1 ⚠
p.Gly712= Single submitter osteogenesis imperfecta type 1
p.Gly721= Single submitter Cardiovascular phenotype
p.Gly943Arg Single submitter osteogenesis imperfecta type 1 ⚠
p.Gly961Val Single submitter osteogenesis imperfecta type 1 ⚠
p.His1070Pro Single submitter Cardiovascular phenotype ⚠
p.His1225Tyr Single submitter Cardiovascular phenotype ⚠
p.Ile480Thr Single submitter osteogenesis imperfecta type 1 ⚠
p.Ile492Val Single submitter Cardiovascular phenotype ⚠
p.Leu452Phe Single submitter Cardiovascular phenotype ⚠
p.Phe176Leu Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Pro1016His Single submitter osteogenesis imperfecta type 2 ⚠
p.Pro102Ser Single submitter osteogenesis imperfecta type 1 ⚠
p.Pro315= Single submitter osteogenesis imperfecta type 1
p.Pro363= Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Pro371= Single submitter osteogenesis imperfecta type 1
p.Pro383His Single submitter osteogenesis imperfecta type 1 ⚠
p.Pro50= Single submitter Cardiovascular phenotype
p.Pro522= Single submitter Ehlers-Danlos syndrome
p.Pro522Ser Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Pro770Leu Single submitter osteoporosis ⚠
p.Pro809Ser Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Pro896Leu Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Pro942= Single submitter Cardiovascular phenotype
p.Pro951= Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Pro956= Single submitter osteogenesis imperfecta type 1
p.Pro968= Single submitter osteogenesis imperfecta type 1
p.Pro986Leu Single submitter osteogenesis imperfecta type 1 ⚠
p.Ser1247Tyr Single submitter osteogenesis imperfecta type 1 ⚠
p.Ser1295Pro Single submitter Ehlers-Danlos syndrome, arthrochalasia type, 2 ⚠
p.Ser1318= Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Ser639Gly Single submitter Cardiovascular phenotype ⚠
p.Ser878= Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Ser878Leu Single submitter osteogenesis imperfecta type 1 ⚠
p.Thr1252Ala Single submitter Ehlers-Danlos syndrome, arthrochalasia type, 2 ⚠
p.Val1226Ile Single submitter Cardiovascular phenotype ⚠
p.Val1290= Single submitter Ehlers-Danlos syndrome
p.Val294Phe Single submitter Ehlers-Danlos syndrome ⚠
p.Val416Ile Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Val468= Single submitter Ehlers-Danlos syndrome, classic type, 1
p.Val957Ile Single submitter Cardiovascular phenotype ⚠
p.Val987fs Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠

Benign 104

c.1035+54A>G Multiple submitters
c.1036-12A>G Multiple submitters osteogenesis imperfecta
c.1036-144C>G Multiple submitters
c.1197+61C>T Multiple submitters
c.1198-68T>A Multiple submitters
c.1251+33G>A Multiple submitters
c.1252-7del Multiple submitters osteogenesis imperfecta
c.132+31G>A Multiple submitters
c.1558-188T>C Multiple submitters
c.1665+15A>G Multiple submitters osteogenesis imperfecta type 1
c.1666-41G>A Multiple submitters
c.1765-141G>A Multiple submitters
c.1971+123C>A Multiple submitters
c.1972-134C>T Multiple submitters
c.226-11dup Multiple submitters
c.2349+234T>G Multiple submitters
c.2403+186T>C Multiple submitters
c.2565+173A>G Multiple submitters
c.2565+233G>A Multiple submitters
c.2565+65A>G Multiple submitters
c.2673+245T>C Multiple submitters
c.2674-206C>T Multiple submitters
c.2674-235C>T Multiple submitters
c.280-196A>T Multiple submitters
c.280-68A>G Multiple submitters
c.2997+107T>A Multiple submitters
c.3105+164A>G Multiple submitters
c.3105+202G>T Multiple submitters
c.3105+43G>A Multiple submitters
c.3105+91T>C Multiple submitters
c.3106-104G>A Multiple submitters
c.3106-175A>G Multiple submitters
c.3106-221A>G Multiple submitters
c.3106-76C>G Multiple submitters
c.3712-102T>C Multiple submitters
c.3712-105T>C Multiple submitters
c.3712-13C>T Multiple submitters osteogenesis imperfecta
c.3712-80C>T Multiple submitters
c.3955-215T>G Multiple submitters
c.3955-242G>A Multiple submitters
c.3955-323G>A Multiple submitters
c.486+125C>T Multiple submitters
c.487-137A>G Multiple submitters
c.541-129C>T Multiple submitters
c.594+118del Multiple submitters osteogenesis imperfecta
c.594+5A>T Multiple submitters osteogenesis imperfecta type 1
c.595-125A>G Multiple submitters
c.71-7dup Multiple submitters osteogenesis imperfecta type 1
c.71-8_71-7dup Multiple submitters Ehlers-Danlos syndrome, classic type, 1
c.738+86T>A Multiple submitters
c.738+98C>A Multiple submitters
c.82-12A>G Multiple submitters Ehlers-Danlos syndrome, arthrochalasia type, 2
c.936+14C>T Multiple submitters osteogenesis imperfecta type 1
c.936+46G>A Multiple submitters
c.937-3C>T Multiple submitters osteogenesis imperfecta type 1
c.*194C>T Multiple submitters osteogenesis imperfecta
c.*804G>T Multiple submitters Ehlers-Danlos syndrome, arthrochalasia type, 2
p.Asp82= Multiple submitters osteogenesis imperfecta type 1
p.Gly1045= Multiple submitters osteogenesis imperfecta type 1
p.Pro482= Multiple submitters osteogenesis imperfecta type 1
p.Thr29= Multiple submitters Ehlers-Danlos syndrome, arthrochalasia type, 2
p.Val626= Multiple submitters Ehlers-Danlos syndrome, arthrochalasia type, 2
c.1198-151T>C Single submitter
c.1252-7dup Single submitter
c.1720-316T>C Single submitter
c.1764+221C>A Single submitter
c.1863+6dup Single submitter Ehlers-Danlos syndrome, classic type, 1
c.2025+14del Single submitter osteogenesis imperfecta type 1
c.2025+301C>T Single submitter
c.2025+49del Single submitter
c.2025+50del Single submitter
c.2026-179_2026-178del Single submitter
c.2026-265G>A Single submitter
c.2026-276T>G Single submitter
c.2026-318C>G Single submitter
c.2026-32_2026-31del Single submitter
c.2026-9del Single submitter Ehlers-Danlos syndrome, classic type, 1
c.2079+15dup Single submitter osteogenesis imperfecta type 1
c.2080-189T>C Single submitter
c.225+209C>T Single submitter
c.226-11del Single submitter
c.226-222A>G Single submitter
c.2350-124_2350-87del Single submitter
c.2403+254_2403+255del Single submitter
c.2403+255del Single submitter
c.3106-56_3106-55del Single submitter
c.3267+94G>T Single submitter
c.3527-187A>C Single submitter
c.3712-297del Single submitter
c.3712-302T>C Single submitter
c.3712-66dup Single submitter
c.3712-67_3712-66dup Single submitter
c.3712-81dup Single submitter
c.3954+120_3954+123del Single submitter
c.594+277C>T Single submitter
c.70+518A>G Single submitter
c.81+17_81+18del Single submitter Ehlers-Danlos syndrome, classic type, 1
c.82-163T>C Single submitter
c.96+249del Single submitter
c.-698C>A Single submitter
c.*195C>T Single submitter Ehlers-Danlos syndrome, arthrochalasia type, 2
c.*415T>G Single submitter osteogenesis imperfecta
c.*605A>G Single submitter Ehlers-Danlos syndrome, arthrochalasia type, 2
c.*654_*655insGTTGTCC Single submitter

Benign/Likely benign 46

c.1036-14G>A Multiple submitters osteogenesis imperfecta type 1
c.1350+11A>T Multiple submitters Ehlers-Danlos syndrome, arthrochalasia type, 2
c.1405-16A>G Multiple submitters osteogenesis imperfecta type 1
c.1971+18T>C Multiple submitters osteogenesis imperfecta type 1
c.2025+9A>G Multiple submitters Ehlers-Danlos syndrome, arthrochalasia type, 2
c.2133+12C>A Multiple submitters osteogenesis imperfecta type 1
c.226-6C>A Multiple submitters osteogenesis imperfecta type 1
c.2349+16G>C Multiple submitters osteogenesis imperfecta type 1
c.595-20C>T Multiple submitters osteogenesis imperfecta type 1
c.639+19A>T Multiple submitters osteogenesis imperfecta type 1
c.694-15T>C Multiple submitters osteogenesis imperfecta type 1
c.70+719_70+720del Multiple submitters
c.71-7del Multiple submitters Ehlers-Danlos syndrome, classic type, 1
c.81+11del Multiple submitters osteogenesis imperfecta type 1
c.892-13C>G Multiple submitters osteogenesis imperfecta
c.96+10C>T Multiple submitters osteogenesis imperfecta type 1
c.-287C>T Multiple submitters Ehlers-Danlos syndrome, arthrochalasia type, 2
c.*205A>G Multiple submitters Ehlers-Danlos syndrome, arthrochalasia type, 2
c.*283T>C Multiple submitters osteogenesis imperfecta
p.Ala194= Multiple submitters osteogenesis imperfecta type 1
p.Ala855Thr Multiple submitters Ehlers-Danlos syndrome, arthrochalasia type, 2 ⚠
p.Ala900= Multiple submitters osteogenesis imperfecta type 1
p.Arg1205Gln Multiple submitters osteogenesis imperfecta
p.Arg327= Multiple submitters Cardiovascular phenotype
p.Arg41His Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Arg609= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Arg693Gln Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Cys1195= Multiple submitters osteogenesis imperfecta type 1
p.Gly1006= Multiple submitters osteogenesis imperfecta type 1
p.Gly1048= Multiple submitters osteogenesis imperfecta type 1
p.Gly316= Multiple submitters Ehlers-Danlos syndrome, arthrochalasia type, 2
p.Gly325= Multiple submitters Cardiovascular phenotype
p.Gly451= Multiple submitters Cardiovascular phenotype
p.Gly622= Multiple submitters Ehlers-Danlos syndrome, arthrochalasia type, 2
p.Gly694= Multiple submitters osteogenesis imperfecta type 1
p.Ile954Thr Multiple submitters Cardiovascular phenotype
p.Phe842= Multiple submitters osteogenesis imperfecta type 1
p.Pro261= Multiple submitters osteogenesis imperfecta
p.Pro800= Multiple submitters osteogenesis imperfecta type 1
p.Pro857Thr Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Pro989= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Thr1283= Multiple submitters Ehlers-Danlos syndrome, arthrochalasia type, 2
p.Thr16= Multiple submitters connective tissue disorder
p.Tyr1112= Multiple submitters osteogenesis imperfecta type 1
p.Val1047Met Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Val270Ile Multiple submitters connective tissue disorder ⚠

Likely benign 779

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

c.1036-16C>T Multiple submitters Ehlers-Danlos syndrome, classic type, 1
c.1036-19G>C Multiple submitters Ehlers-Danlos syndrome, classic type, 1
c.1036-9G>A Multiple submitters osteogenesis imperfecta type 1
c.1198-16A>T Multiple submitters osteogenesis imperfecta type 1
c.1198-22T>C Multiple submitters
c.1251+19dup Multiple submitters connective tissue disorder
c.1252-6G>T Multiple submitters Ehlers-Danlos syndrome, classic type, 1
c.133-27T>C Multiple submitters
c.1350+11A>G Multiple submitters Ehlers-Danlos syndrome, classic type, 1
c.1350+14T>A Multiple submitters osteogenesis imperfecta type 1
c.1350+43C>T Multiple submitters
c.1503+11C>T Multiple submitters osteogenesis imperfecta type 1
c.1719+15T>C Multiple submitters osteogenesis imperfecta type 1
c.1764+13T>G Multiple submitters osteogenesis imperfecta type 1
c.1764+85C>T Multiple submitters
c.1764+86C>T Multiple submitters
c.1765-148G>A Multiple submitters
c.1863+12T>C Multiple submitters osteogenesis imperfecta type 1
c.1971+17A>G Multiple submitters osteogenesis imperfecta type 1
c.2025+7A>G Multiple submitters Ehlers-Danlos syndrome, classic type, 1
c.2080-11T>C Multiple submitters osteogenesis imperfecta type 1
c.2080-4A>G Multiple submitters osteogenesis imperfecta type 1
c.2080-61C>T Multiple submitters
c.2134-14del Multiple submitters osteogenesis imperfecta type 1
c.2187+13T>G Multiple submitters osteogenesis imperfecta type 1
c.2187+18A>T Multiple submitters osteogenesis imperfecta type 1
c.2187+8T>C Multiple submitters Ehlers-Danlos syndrome, classic type, 1
c.2188-12T>C Multiple submitters Ehlers-Danlos syndrome, classic type, 1
c.226-16T>C Multiple submitters osteogenesis imperfecta type 1
c.2404-15T>C Multiple submitters osteogenesis imperfecta type 1
c.2565+225A>T Multiple submitters
c.2673+10T>A Multiple submitters Ehlers-Danlos syndrome, classic type, 1
c.2673+7G>T Multiple submitters osteogenesis imperfecta type 1
c.2673+8C>T Multiple submitters osteogenesis imperfecta type 1
c.2674-6G>C Multiple submitters osteogenesis imperfecta type 1
c.2781+10A>G Multiple submitters osteogenesis imperfecta type 1
c.2781+13C>G Multiple submitters osteogenesis imperfecta type 1
c.2782-19T>G Multiple submitters osteogenesis imperfecta type 1
c.279+149T>C Multiple submitters
c.280-8C>T Multiple submitters Ehlers-Danlos syndrome, classic type, 1
c.2836-17C>T Multiple submitters osteogenesis imperfecta type 1
c.2943+20T>C Multiple submitters osteogenesis imperfecta type 1
c.2997+11G>C Multiple submitters Ehlers-Danlos syndrome, classic type, 1
c.3106-19T>G Multiple submitters Ehlers-Danlos syndrome, classic type, 1
c.325-9T>C Multiple submitters osteogenesis imperfecta type 1
c.3268-9C>T Multiple submitters osteogenesis imperfecta type 1
c.3526+10G>T Multiple submitters osteogenesis imperfecta type 1
c.3711+10C>T Multiple submitters Ehlers-Danlos syndrome, classic type, 1
c.3711+20C>A Multiple submitters Ehlers-Danlos syndrome, classic type, 1
c.3712-11A>G Multiple submitters osteogenesis imperfecta type 1
c.3954+8A>G Multiple submitters osteogenesis imperfecta type 1
c.433-16A>G Multiple submitters osteogenesis imperfecta type 1
c.433-16A>T Multiple submitters Ehlers-Danlos syndrome, classic type, 1
c.486+15A>G Multiple submitters osteogenesis imperfecta type 1
c.540+20A>G Multiple submitters osteogenesis imperfecta type 1
c.541-19A>G Multiple submitters Ehlers-Danlos syndrome, classic type, 1
c.595-16A>G Multiple submitters Ehlers-Danlos syndrome, classic type, 1
c.640-10_640-9del Multiple submitters Ehlers-Danlos syndrome, classic type, 1
c.694-10T>G Multiple submitters osteogenesis imperfecta type 1
c.694-19C>T Multiple submitters Ehlers-Danlos syndrome, classic type, 1
c.70+8C>T Multiple submitters Ehlers-Danlos syndrome, classic type, 1
c.70+9C>T Multiple submitters osteogenesis imperfecta type 1
c.738+12C>T Multiple submitters Ehlers-Danlos syndrome, classic type, 1
c.739-4T>G Multiple submitters osteogenesis imperfecta type 1
c.793-126C>T Multiple submitters
c.793-20G>T Multiple submitters osteogenesis imperfecta type 1
c.793-8T>A Multiple submitters Ehlers-Danlos syndrome, classic type, 1
c.81+102C>T Multiple submitters
c.81+12T>C Multiple submitters osteogenesis imperfecta type 1
c.81+15T>C Multiple submitters Ehlers-Danlos syndrome, classic type, 1
c.82-17G>C Multiple submitters osteogenesis imperfecta type 1
c.892-20T>G Multiple submitters osteogenesis imperfecta type 1
c.892-5C>T Multiple submitters osteogenesis imperfecta type 1
c.936+15G>A Multiple submitters osteogenesis imperfecta type 1
p.Ala1062= Multiple submitters osteogenesis imperfecta type 1
p.Ala1261= Multiple submitters osteogenesis imperfecta type 1
p.Ala20= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Ala227Thr Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Ala279= Multiple submitters Cardiovascular phenotype
p.Ala390= Multiple submitters osteoporosis
p.Ala521= Multiple submitters osteogenesis imperfecta type 1
p.Ala600= Multiple submitters osteogenesis imperfecta type 1
p.Ala960= Multiple submitters osteogenesis imperfecta type 1
p.Arg1067His Multiple submitters Cardiovascular phenotype
p.Arg1123= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Arg1258= Multiple submitters Cardiovascular phenotype
p.Arg152= Multiple submitters Cardiovascular phenotype
p.Arg591= Multiple submitters Cardiovascular phenotype
p.Arg938= Multiple submitters osteogenesis imperfecta type 1
p.Arg948= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Asn1274= Multiple submitters Cardiovascular phenotype
p.Asn272= Multiple submitters osteogenesis imperfecta type 1
p.Asn303= Multiple submitters Cardiovascular phenotype
p.Asn435= Multiple submitters osteogenesis imperfecta type 1
p.Asn507= Multiple submitters Cardiovascular phenotype
p.Asn723= Multiple submitters Cardiovascular phenotype
p.Asn750= Multiple submitters Cardiovascular phenotype
p.Asn918= Multiple submitters Cardiovascular phenotype
p.Asn932= Multiple submitters Cardiovascular phenotype
p.Asp1315= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Asp474= Multiple submitters osteogenesis imperfecta type 1
p.Cys1317= Multiple submitters Cardiovascular phenotype
p.Glu347= Multiple submitters Cardiovascular phenotype
p.Glu362= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Glu377= Multiple submitters osteogenesis imperfecta type 1
p.Glu443= Multiple submitters Cardiovascular phenotype
p.Glu590= Multiple submitters osteogenesis imperfecta type 1
p.Glu947= Multiple submitters Cardiovascular phenotype
p.Gly1000= Multiple submitters osteogenesis imperfecta type 1
p.Gly1036= Multiple submitters osteogenesis imperfecta type 1
p.Gly1066= Multiple submitters Cardiovascular phenotype
p.Gly1075= Multiple submitters osteogenesis imperfecta type 1
p.Gly1078= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Gly1087= Multiple submitters osteogenesis imperfecta type 1
p.Gly1090= Multiple submitters Cardiovascular phenotype
p.Gly1096= Multiple submitters Cardiovascular phenotype
p.Gly1200= Multiple submitters osteogenesis imperfecta type 1
p.Gly1244= Multiple submitters Cardiovascular phenotype
p.Gly142= Multiple submitters osteogenesis imperfecta type 1
p.Gly181= Multiple submitters osteogenesis imperfecta type 1
p.Gly265= Multiple submitters osteogenesis imperfecta type 1
p.Gly322= Multiple submitters osteogenesis imperfecta type 1
p.Gly331= Multiple submitters osteogenesis imperfecta type 1
p.Gly382= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Gly442= Multiple submitters osteogenesis imperfecta type 1
p.Gly478= Multiple submitters osteogenesis imperfecta type 1
p.Gly481= Multiple submitters osteogenesis imperfecta type 1
p.Gly51= Multiple submitters Cardiovascular phenotype
p.Gly60= Multiple submitters osteogenesis imperfecta type 1
p.Gly634= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Gly649= Multiple submitters osteogenesis imperfecta type 1
p.Gly661= Multiple submitters osteogenesis imperfecta type 1
p.Gly682= Multiple submitters osteogenesis imperfecta type 1
p.Gly69= Multiple submitters Cardiovascular phenotype
p.Gly697= Multiple submitters Cardiovascular phenotype
p.Gly754= Multiple submitters Cardiovascular phenotype
p.Gly760= Multiple submitters Cardiovascular phenotype
p.Gly772= Multiple submitters osteogenesis imperfecta type 1
p.Gly796= Multiple submitters osteogenesis imperfecta type 1
p.Gly85= Multiple submitters Cardiovascular phenotype
p.Gly874= Multiple submitters Cardiovascular phenotype
p.Gly880= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Gly913= Multiple submitters osteogenesis imperfecta type 1
p.Gly955= Multiple submitters Cardiovascular phenotype
p.Gly988= Multiple submitters osteogenesis imperfecta type 1
p.His1037= Multiple submitters Cardiovascular phenotype
p.His1038= Multiple submitters osteogenesis imperfecta type 1
p.His975= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Ile1204= Multiple submitters Cardiovascular phenotype
p.Ile459= Multiple submitters osteogenesis imperfecta type 1
p.Ile473= Multiple submitters osteogenesis imperfecta type 1
p.Leu1254= Multiple submitters osteogenesis imperfecta type 1
p.Leu1286= Multiple submitters osteogenesis imperfecta type 1
p.Leu1300= Multiple submitters Cardiovascular phenotype
p.Leu185= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Leu19= Multiple submitters Cardiovascular phenotype
p.Leu314= Multiple submitters osteogenesis imperfecta type 1
p.Leu446= Multiple submitters osteogenesis imperfecta type 1
p.Leu875= Multiple submitters Cardiovascular phenotype
p.Lys309= Multiple submitters
p.Pro1011= Multiple submitters osteogenesis imperfecta type 1
p.Pro1101= Multiple submitters osteogenesis imperfecta type 1
p.Pro1171= Multiple submitters osteogenesis imperfecta type 1
p.Pro134= Multiple submitters Cardiovascular phenotype
p.Pro171= Multiple submitters osteogenesis imperfecta type 1
p.Pro192= Multiple submitters osteogenesis imperfecta type 1
p.Pro219= Multiple submitters osteogenesis imperfecta type 1
p.Pro242= Multiple submitters Cardiovascular phenotype
p.Pro254= Multiple submitters Cardiovascular phenotype
p.Pro278= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Pro293= Multiple submitters Cardiovascular phenotype
p.Pro321= Multiple submitters Cardiovascular phenotype
p.Pro453= Multiple submitters osteogenesis imperfecta type 1
p.Pro46= Multiple submitters Cardiovascular phenotype
p.Pro563= Multiple submitters osteogenesis imperfecta type 1
p.Pro570= Multiple submitters Cardiovascular phenotype
p.Pro58= Multiple submitters Cardiovascular phenotype
p.Pro587= Multiple submitters osteogenesis imperfecta type 1
p.Pro614= Multiple submitters osteogenesis imperfecta type 1
p.Pro70= Multiple submitters Cardiovascular phenotype
p.Pro771= Multiple submitters osteogenesis imperfecta type 1
p.Pro773= Multiple submitters osteogenesis imperfecta type 1
p.Pro827= Multiple submitters Cardiovascular phenotype
p.Pro935= Multiple submitters Cardiovascular phenotype
p.Ser1046= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Ser1104= Multiple submitters Cardiovascular phenotype
p.Ser1295= Multiple submitters Cardiovascular phenotype
p.Ser291= Multiple submitters osteogenesis imperfecta type 1
p.Ser357= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Thr1138= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Thr1148= Multiple submitters Cardiovascular phenotype
p.Tyr1108= Multiple submitters Cardiovascular phenotype
p.Tyr1331= Multiple submitters osteogenesis imperfecta type 1
p.Val1103= Multiple submitters Cardiovascular phenotype
p.Val240= Multiple submitters osteogenesis imperfecta type 1
p.Val30= Multiple submitters osteogenesis imperfecta type 1
p.Val717= Multiple submitters Cardiovascular phenotype
c.1035+14A>T Single submitter osteogenesis imperfecta type 1
c.1036-10T>C Single submitter osteogenesis imperfecta type 1
c.1036-15T>C Single submitter Ehlers-Danlos syndrome, classic type, 1
c.1036-45C>T Single submitter
c.1036-5C>A Single submitter Ehlers-Danlos syndrome, classic type, 1
c.1089+14T>C Single submitter osteogenesis imperfecta type 1
c.1089+16A>G Single submitter osteogenesis imperfecta type 1
c.1089+8del Single submitter osteogenesis imperfecta type 1
c.1089+9C>T Single submitter Ehlers-Danlos syndrome, classic type, 1
c.1090-10C>A Single submitter osteogenesis imperfecta type 1
c.1090-18G>T Single submitter Ehlers-Danlos syndrome, classic type, 1
c.1090-6A>G Single submitter osteogenesis imperfecta type 1
c.1197+14G>A Single submitter osteogenesis imperfecta type 1
c.1197+18C>A Single submitter
c.1197+19C>T Single submitter Ehlers-Danlos syndrome, classic type, 1
c.1198-14G>A Single submitter Ehlers-Danlos syndrome, classic type, 1
c.1198-15T>C Single submitter
c.1198-8T>C Single submitter osteogenesis imperfecta type 1
c.1251+11T>C Single submitter Ehlers-Danlos syndrome, classic type, 1
c.1251+9T>C Single submitter Ehlers-Danlos syndrome, classic type, 1
c.1252-15T>C Single submitter osteogenesis imperfecta type 1
c.1252-17T>G Single submitter osteogenesis imperfecta type 1
c.1252-18T>G Single submitter Ehlers-Danlos syndrome, classic type, 1
c.1252-19T>G Single submitter Ehlers-Danlos syndrome, classic type, 1
c.1252-20T>G Single submitter osteogenesis imperfecta type 1
c.1252-6del Single submitter osteogenesis imperfecta type 1
c.1252-8_1252-7del Single submitter Ehlers-Danlos syndrome
c.132+14G>T Single submitter osteogenesis imperfecta type 1
c.132+196C>T Single submitter
c.132+20T>C Single submitter osteogenesis imperfecta type 1
c.132+7A>G Single submitter osteogenesis imperfecta type 1
c.133-17C>T Single submitter osteogenesis imperfecta type 1
c.133-19C>G Single submitter osteogenesis imperfecta type 1
c.133-7A>G Single submitter Ehlers-Danlos syndrome, classic type, 1
c.1350+13C>G Single submitter osteogenesis imperfecta type 1
c.1350+18T>A Single submitter osteogenesis imperfecta type 1
c.1351-13A>T Single submitter Ehlers-Danlos syndrome, classic type, 1
c.1351-16C>G Single submitter osteogenesis imperfecta type 1
c.1351-16C>T Single submitter osteogenesis imperfecta type 1
c.1351-17C>A Single submitter Ehlers-Danlos syndrome, classic type, 1
c.1351-17C>G Single submitter Ehlers-Danlos syndrome, classic type, 1
c.1351-17C>T Single submitter osteogenesis imperfecta type 1
c.1351-18T>A Single submitter
c.1351-9A>G Single submitter osteogenesis imperfecta type 1
c.1404+14A>T Single submitter Ehlers-Danlos syndrome, classic type, 1
c.1404+188G>A Single submitter
c.1405-10_1405-9del Single submitter osteogenesis imperfecta type 1
c.1503+12_1503+14del Single submitter osteogenesis imperfecta type 1
c.1503+13A>G Single submitter osteogenesis imperfecta type 1
c.1503+15A>C Single submitter osteogenesis imperfecta type 1
c.1503+15A>G Single submitter Ehlers-Danlos syndrome, classic type, 1
c.1503+17C>T Single submitter Ehlers-Danlos syndrome, classic type, 1
c.1503+20T>C Single submitter osteogenesis imperfecta type 1
c.1503+5_1503+9dup Single submitter osteogenesis imperfecta type 1
c.1504-13A>G Single submitter
c.1504-13A>T Single submitter Ehlers-Danlos syndrome, classic type, 1
c.1504-18T>G Single submitter Ehlers-Danlos syndrome, classic type, 1
c.1504-19T>G Single submitter osteogenesis imperfecta type 1
c.1557+11A>G Single submitter osteogenesis imperfecta type 1
c.1557+12C>T Single submitter osteogenesis imperfecta type 1
c.1557+16T>C Single submitter
c.1557+20C>T Single submitter Ehlers-Danlos syndrome, classic type, 1
c.1557+8C>T Single submitter osteogenesis imperfecta type 1
c.1558-135C>T Single submitter
c.1558-13T>C Single submitter Ehlers-Danlos syndrome, classic type, 1
c.1558-14T>C Single submitter Ehlers-Danlos syndrome, classic type, 1
c.1558-72C>T Single submitter
c.1558-7T>C Single submitter osteogenesis imperfecta type 1
c.1611+10T>C Single submitter osteogenesis imperfecta type 1
c.1611+12T>G Single submitter
c.1612-18C>G Single submitter osteogenesis imperfecta type 1
c.1612-20C>A Single submitter osteogenesis imperfecta type 1
c.1612-20C>G Single submitter Ehlers-Danlos syndrome, classic type, 1
c.1612-20C>T Single submitter osteogenesis imperfecta type 1
c.1612-7C>T Single submitter Ehlers-Danlos syndrome, classic type, 1
c.1612-9C>T Single submitter osteogenesis imperfecta type 1
c.1665+10C>T Single submitter osteogenesis imperfecta type 1
c.1665+20T>C Single submitter osteogenesis imperfecta type 1
c.1665+81del Single submitter
c.1665+9A>G Single submitter osteogenesis imperfecta type 1
c.1666-14C>T Single submitter osteogenesis imperfecta type 1
c.1666-17T>C Single submitter osteogenesis imperfecta type 1
c.1666-19T>C Single submitter Ehlers-Danlos syndrome, classic type, 1
c.1666-6T>C Single submitter Ehlers-Danlos syndrome, classic type, 1
c.1719+18T>C Single submitter Ehlers-Danlos syndrome, classic type, 1
c.1719+284C>T Single submitter
c.1719+7A>T Single submitter Ehlers-Danlos syndrome, classic type, 1
c.1720-136T>C Single submitter
c.1720-13A>C Single submitter osteogenesis imperfecta type 1
c.1720-19A>G Single submitter Ehlers-Danlos syndrome, classic type, 1
c.1720-4C>T Single submitter Ehlers-Danlos syndrome, classic type, 1
c.1764+101T>C Single submitter
c.1764+11C>T Single submitter Ehlers-Danlos syndrome, classic type, 1
c.1764+7G>A Single submitter osteogenesis imperfecta type 1
c.1764+8T>C Single submitter osteogenesis imperfecta type 1
c.1765-109T>G Single submitter
c.1765-10C>T Single submitter Ehlers-Danlos syndrome, classic type, 1
c.1765-4T>G Single submitter Ehlers-Danlos syndrome, classic type, 1
c.1765-9T>A Single submitter osteogenesis imperfecta type 1
c.1863+11A>G Single submitter osteogenesis imperfecta type 1
c.1863+145G>C Single submitter
c.1863+20A>G Single submitter Ehlers-Danlos syndrome, classic type, 1
c.1864-10T>C Single submitter

Uncertain significance 854

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

c.1251+2T>G Multiple submitters Cardiovascular phenotype
c.1404+4A>C Multiple submitters osteogenesis imperfecta type 2
c.1503+5G>A Multiple submitters Ehlers-Danlos syndrome, classic type, 1
c.2187+6T>A Multiple submitters osteogenesis imperfecta type 1
c.2295+3A>C Multiple submitters Ehlers-Danlos syndrome, classic type, 1
c.2403+3A>G Multiple submitters osteogenesis imperfecta type 1
c.279+3A>G Multiple submitters Ehlers-Danlos syndrome, classic type, 1
c.378+6T>C Multiple submitters osteogenesis imperfecta type 1
c.432+6T>C Multiple submitters osteogenesis imperfecta type 1
c.792+4A>T Multiple submitters Cardiovascular phenotype
c.891+4A>G Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Ala1035Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala104Thr Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Ala164Thr Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Ala215Val Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Ala260Val Multiple submitters connective tissue disorder ⚠
p.Ala279Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala390Pro Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Ala462Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala530Ser Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Ala564Pro Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Ala564Thr Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Ala629Asp Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Ala633Gly Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Ala699Pro Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Ala774Ser Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Ala774Val Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Ala843Thr Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Ala852Ser Multiple submitters Cardiovascular phenotype ⚠
p.Ala852Thr Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Ala869Thr Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Ala905Ser Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Ala911Gly Multiple submitters Cardiovascular phenotype ⚠
p.Ala960Val Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Ala962Ser Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Ala990Asp Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Ala990Ser Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Arg1005Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg1053Gly Multiple submitters Cardiovascular phenotype ⚠
p.Arg1080Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg1123Cys Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Arg1123His Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Arg1123Leu Multiple submitters Cardiovascular phenotype ⚠
p.Arg1161Cys Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Arg1161Leu Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Arg1164His Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Arg1258His Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Arg132Cys Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Arg132His Multiple submitters connective tissue disorder ⚠
p.Arg1338Cys Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Arg1338His Multiple submitters Cardiovascular phenotype ⚠
p.Arg152Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg180Lys Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Arg234Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg234His Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Arg282His Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Arg327Cys Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Arg38Ser Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Arg405His Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Arg41Cys Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Arg423Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg423His Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Arg440Cys Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Arg440His Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Arg519Gln Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Arg591Cys Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Arg675Cys Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Arg675His Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Arg675Pro Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Arg693Trp Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Arg708Pro Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Arg708Trp Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Arg714Cys Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Arg714His Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Arg714Leu Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Arg714Ser Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Arg777His Multiple submitters Cardiovascular phenotype ⚠
p.Arg794Gln Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Arg819Cys Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Arg822Cys Multiple submitters combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 ⚠
p.Arg822His Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Arg882Cys Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Arg882His Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Arg906Cys Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Arg906His Multiple submitters Cardiovascular phenotype ⚠
p.Arg926Cys Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Arg938His Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Arg948Cys Multiple submitters osteogenesis imperfecta type 2 ⚠
p.Arg948His Multiple submitters combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 ⚠
p.Arg948Ser Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Arg978Cys Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Arg978His Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Asn1144His Multiple submitters Rare disease with thoracic aortic aneurysm and aortic dissection ⚠
p.Asn1158Thr Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Asn1262Ser Multiple submitters Cardiovascular phenotype ⚠
p.Asn1285Ser Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Asn1322His Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Asn183Ser Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Asn299Thr Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Asn359Ser Multiple submitters Cardiovascular phenotype ⚠
p.Asn435Lys Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Asn723Ile Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Asp1007Asn Multiple submitters Ehlers-Danlos syndrome, arthrochalasia type, 2 ⚠
p.Asp1136Gly Multiple submitters Cardiovascular phenotype ⚠
p.Asp1165Asn Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Asp1297Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp474Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp525Tyr Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Asp53Asn Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Asp692Asn Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Asp933Asn Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Asp939Asn Multiple submitters Cardiovascular phenotype ⚠
p.Cys18Arg Multiple submitters Ehlers-Danlos syndrome, cardiac valvular type ⚠
p.Gln1237Arg Multiple submitters connective tissue disorder ⚠
p.Gln1354Arg Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Gln212Pro Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Gln734Glu Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Glu1249Asp Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Glu155Lys Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Glu356Asp Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Glu488Asp Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Glu644Lys Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Glu656Lys Multiple submitters ⚠
p.Glu695Lys Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Glu749Gln Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Glu881Ala Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Gly1185Glu Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Gly1294Arg Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Gly1350Ser Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Gly1351Asp Multiple submitters Cardiovascular phenotype ⚠
p.Gly33Val Multiple submitters Ehlers-Danlos syndrome, arthrochalasia type, 2 ⚠
p.Gly36Arg Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Gly542Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gly74Ser Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Gly85Val Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Gly89Arg Multiple submitters osteogenesis imperfecta type 1 ⚠
p.His512Gln Multiple submitters osteogenesis imperfecta type 1 ⚠
p.His576Arg Multiple submitters osteogenesis imperfecta type 1 ⚠
p.His944Tyr Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Ile1034Val Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Ile1211Thr Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Ile1329Met Multiple submitters COL1A2-related disorder ⚠
p.Ile1349Val Multiple submitters Cardiovascular phenotype ⚠
p.Ile1360Val Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Ile249Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ile459Thr Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Ile473Thr Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Ile492Thr Multiple submitters osteogenesis imperfecta ⚠
p.Ile803Val Multiple submitters Cardiovascular phenotype ⚠
p.Ile899Thr Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Leu1254Phe Multiple submitters Cardiovascular phenotype ⚠
p.Leu1313Pro Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Leu407Ile Multiple submitters Cardiovascular phenotype ⚠
p.Leu470Phe Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Leu662Pro Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Leu897Pro Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Lys1326Met Multiple submitters Cardiovascular phenotype ⚠
p.Lys1332Ile Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Lys177Asn Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Lys177Gln Multiple submitters Cardiovascular phenotype ⚠
p.Lys198Arg Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Lys264Glu Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Lys506Gln Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Met1279Val Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Met447Val Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Met96Lys Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Met96Val Multiple submitters Ehlers-Danlos syndrome, cardiac valvular type ⚠
p.Phe167Ser Multiple submitters Cardiovascular phenotype ⚠
p.Pro102Thr Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Pro1061Thr Multiple submitters connective tissue disorder ⚠
p.Pro1071Thr Multiple submitters Ehlers-Danlos syndrome, arthrochalasia type, 2 ⚠
p.Pro1076Ser Multiple submitters Ehlers-Danlos syndrome, arthrochalasia type ⚠
p.Pro1094Ser Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Pro1095Ser Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Pro110Leu Multiple submitters Cardiovascular phenotype ⚠
p.Pro116Thr Multiple submitters Cardiovascular phenotype ⚠
p.Pro123His Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Pro128Ser Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Pro1346Ser Multiple submitters Cardiovascular phenotype ⚠
p.Pro1362Ser Multiple submitters ⚠
p.Pro150Leu Multiple submitters ⚠
p.Pro168Ser Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Pro171Ser Multiple submitters osteogenesis imperfecta type 2 ⚠
p.Pro201Leu Multiple submitters ⚠
p.Pro201Thr Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Pro261Thr Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Pro278Ala Multiple submitters Cardiovascular phenotype ⚠
p.Pro281_Arg282insAlaGlyProAlaGlyPro Multiple submitters osteogenesis imperfecta
p.Pro297= Multiple submitters osteogenesis imperfecta type 1
p.Pro297Leu Multiple submitters Cardiovascular phenotype ⚠
p.Pro324Ser Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Pro350Ser Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Pro419Leu Multiple submitters Cardiovascular phenotype ⚠
p.Pro444Leu Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Pro477Leu Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Pro49Thr Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Pro500Ala Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Pro50Ser Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Pro50Thr Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Pro534Leu Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Pro549Ser Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Pro552Ser Multiple submitters Cardiovascular phenotype ⚠
p.Pro594Ala Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Pro602Ser Multiple submitters Cardiovascular phenotype ⚠
p.Pro614His Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Pro624Ala Multiple submitters Ehlers-Danlos syndrome, arthrochalasia type, 2 ⚠
p.Pro638Ser Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Pro642Leu Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Pro684Ser Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Pro707_Arg708insAlaGlyPro Multiple submitters osteogenesis imperfecta type 1
p.Pro810Ser Multiple submitters ⚠
p.Pro840Ser Multiple submitters Cardiovascular phenotype ⚠
p.Pro857Ser Multiple submitters Ehlers-Danlos syndrome, arthrochalasia type, 2 ⚠
p.Pro936Ala Multiple submitters Cardiovascular phenotype ⚠
p.Pro998Leu Multiple submitters Cardiovascular phenotype ⚠
p.Ser1155Thr Multiple submitters COL1A2-related disorder ⚠
p.Ser1236Gly Multiple submitters Cardiovascular phenotype ⚠
p.Ser353Phe Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Ser422Cys Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Thr1148Ile Multiple submitters Cardiovascular phenotype ⚠
p.Thr1202Asn Multiple submitters Cardiovascular phenotype ⚠
p.Thr1231Ala Multiple submitters combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 ⚠
p.Thr213= Multiple submitters osteogenesis imperfecta type 1
p.Thr339Ala Multiple submitters Cardiovascular phenotype ⚠
p.Thr501Asn Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Thr501Ser Multiple submitters Cardiovascular phenotype ⚠
p.Thr786Pro Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Trp1216Leu Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Tyr1178_Asp1181del Multiple submitters Ehlers-Danlos syndrome, classic type, 1
p.Tyr1178His Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Val1047Gly Multiple submitters Cardiovascular phenotype ⚠
p.Val1135Ala Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Val1135Phe Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Val159Ile Multiple submitters osteogenesis imperfecta ⚠
p.Val225Ala Multiple submitters Cardiovascular phenotype ⚠
p.Val240Met Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Val243Met Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Val285Leu Multiple submitters Cardiovascular phenotype ⚠
p.Val294Ile Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Val317Ile Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Val468Ile Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Val626Met Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Val627Ala Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Val630= Multiple submitters osteogenesis imperfecta type 1
p.Val681Ile Multiple submitters Cardiovascular phenotype ⚠
p.Val752Gly Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Val759Ile Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
p.Val834Ile Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Val86Leu Multiple submitters osteogenesis imperfecta type 1 ⚠
p.Val969Met Multiple submitters Cardiovascular phenotype ⚠
p.Val987Ile Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
c.1035+4A>T Single submitter Ehlers-Danlos syndrome, classic type, 1
c.1036-7A>G Single submitter Ehlers-Danlos syndrome, classic type, 1
c.1089+3A>G Single submitter Ehlers-Danlos syndrome, classic type, 1
c.1090-4A>G Single submitter Cardiovascular phenotype
c.1198-3C>G Single submitter
c.1251_1251+17dup Single submitter Ehlers-Danlos syndrome, classic type, 1
c.1251+5G>C Single submitter osteogenesis imperfecta type 1
c.132+3G>A Single submitter Ehlers-Danlos syndrome, classic type, 1
c.133-15C>G Single submitter osteogenesis imperfecta type 1
c.133-3C>A Single submitter osteogenesis imperfecta type 1
c.1350+3A>G Single submitter osteogenesis imperfecta type 1
c.1557+5G>A Single submitter
c.1557+5G>T Single submitter osteogenesis imperfecta
c.1557+6T>C Single submitter osteogenesis imperfecta type 1
c.1611+3G>A Single submitter Ehlers-Danlos syndrome, classic type, 1
c.1612-7C>G Single submitter
c.1665+14_1665+15delinsCG Single submitter osteogenesis imperfecta type 1
c.1719+19A>G Single submitter osteogenesis imperfecta type 1
c.1764+6T>C Single submitter Ehlers-Danlos syndrome, classic type, 1
c.1971+3A>G Single submitter Ehlers-Danlos syndrome, classic type, 1
c.1971+3A>T Single submitter Ehlers-Danlos syndrome, classic type, 1
c.1971+4C>T Single submitter Ehlers-Danlos syndrome, classic type, 1
c.1971+6T>C Single submitter Ehlers-Danlos syndrome, classic type, 1
c.1972-5T>G Single submitter Ehlers-Danlos syndrome, classic type, 1
c.1972-6T>G Single submitter Ehlers-Danlos syndrome, classic type, 1
c.2025+2dup Single submitter Ehlers-Danlos syndrome, classic type, 1
c.2025+4A>G Single submitter osteogenesis imperfecta type 1
c.2026-2A>T Single submitter Cardiovascular phenotype
c.2133+4A>C Single submitter
c.2187+14A>G Single submitter Ehlers-Danlos syndrome, arthrochalasia type, 2
c.2187+5G>A Single submitter
c.2188-6_2188-1dup Single submitter Ehlers-Danlos syndrome, classic type, 1
c.2188-7C>A Single submitter
c.225+5G>A Single submitter Cardiovascular phenotype
c.226-11T>A Single submitter
c.2295+5G>C Single submitter Ehlers-Danlos syndrome, classic type, 1
c.2296-3T>G Single submitter Ehlers-Danlos syndrome, classic type, 1
c.2349+3G>A Single submitter Ehlers-Danlos syndrome, classic type, 1
c.2349+44_2349+58del Single submitter COL1A2-related disorder
c.2349+4A>G Single submitter
c.2404-17del Single submitter osteogenesis imperfecta type 1
c.2404-3T>C Single submitter Cardiovascular phenotype
c.2673+6T>A Single submitter Ehlers-Danlos syndrome, classic type, 1
c.2674-9C>A Single submitter Ehlers-Danlos syndrome
c.2781+16G>A Single submitter Ehlers-Danlos syndrome, classic type, 1
c.2782-13G>A Single submitter Ehlers-Danlos syndrome, classic type, 1
c.2835+3C>G Single submitter Cardiovascular phenotype
c.2944-3C>T Single submitter Ehlers-Danlos syndrome, classic type, 1
c.2997+3A>G Single submitter