LTBP3 — 1510 ClinVar variants

All ClinVar germline LTBP3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 674 flagged for review →

40 Pathogenic · 2 Pathogenic/Likely pathogenic · 32 Likely pathogenic · 18 Conflicting · 26 Benign · 18 Benign/Likely benign · 591 Likely benign · 783 Uncertain significance

Full LTBP3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 674

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors agree, ClinVar conflicts 6

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

LTBP3 p.Ala1172Thr Conflicting Single submitter
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Asp820Asn Conflicting Single submitter
geleophysic dysplasia 3
LTBP3 p.Ile395Val Conflicting Single submitter
Inborn genetic diseases
LTBP3 p.Pro330Leu Conflicting Single submitter
Inborn genetic diseases
LTBP3 p.Pro517Leu Conflicting Single submitter
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Val364Met Conflicting Single submitter
brachyolmia-amelogenesis imperfecta syndrome

Predictors lean, ClinVar uncertain 535

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 535

LTBP3 p.Ala1149Thr Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Ala1153Val Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Ala1182Val Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Ala1250Pro Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Ala1289Val Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Ala1296Val Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Ala144Ser Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Ala144Thr Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Ala147Thr Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Ala147Val Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Ala163Thr Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Ala168Ser Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Ala173Ser Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Ala180Thr Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Ala203Thr Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Ala207Val Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Ala20Thr Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Ala219Val Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Ala250Thr Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Ala253Ser Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Ala25Val Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Ala339Thr Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Ala360Thr Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Ala438Thr Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Ala457Ser Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Ala500Pro Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Ala665Ser Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Ala8Thr Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Ala965Val Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Arg1134Gln Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Arg1165His Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Arg1222Leu Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Arg1227His Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Arg1231Trp Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Arg1259Gln Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Arg1272His Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Arg1281Gly Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Arg1281His Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Arg1292Cys Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Arg1292His Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Arg1302His Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Arg1303His Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Arg138Cys Uncertain significance Multiple submitters
LTBP3-related disorder
LTBP3 p.Arg269Gly Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Arg334His Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Arg334Pro Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Arg366His Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Arg391His Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Arg422His Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Arg439Trp Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Arg545His Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Arg552His Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Arg562Gly Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Arg579Gly Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Arg612His Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Arg697Gln Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Arg819Gly Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Arg821Gln Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Arg857Gln Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Asn1099Ser Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Asn1275Ser Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Asn686Ser Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Asp1136Asn Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Asp1136Glu Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Asp1160His Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Asp672Asn Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Asp796Asn Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Asp828His Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Asp973Glu Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Cys685Trp Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Cys730Arg Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Cys830Arg Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Cys971Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Gln1141His Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Gln1190Arg Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Gln1300His Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Gln257Arg Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Gln468Arg Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Gln499Glu Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Glu1107Asp Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Glu1211Asp Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Glu251Gly Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Glu251Lys Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Glu358Lys Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Glu42Asp Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Glu825Gln Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Glu825Lys Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Glu908Gln Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Gly1167Ser Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Gly1181Ser Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Gly1226Ser Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Gly1234Ser Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Gly1278Asp Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Gly148Asp Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Gly150Val Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Gly152Ser Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Gly153Ser Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Gly157Ser Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Gly162Ala Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Gly308Ser Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Gly433Ser Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Gly43Ala Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Gly44Ala Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Gly44Trp Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Gly460Arg Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Gly54Asp Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Gly54Ser Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Gly681Arg Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Gly855Ala Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.His267Gln Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.His367Arg Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.His467Arg Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.His668Gln Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.His816Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Ile567Val Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Ile837Thr Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Leu693Ile Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Leu812Phe Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Leu812Val Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Met551Thr Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Met633Leu Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Pro1070Ser Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Pro1094Leu Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Pro1101Leu Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Pro1110Leu Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Pro1176Leu Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Pro1179Leu Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Pro1230Arg Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Pro1232Ser Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Pro1299Leu Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Pro143Ser Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Pro143Thr Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Pro156Arg Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Pro201Leu Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Pro214Leu Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Pro224Arg Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Pro225Leu Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Pro226Arg Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Pro255His Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Pro261Arg Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Pro270Ser Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Pro271Ser Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Pro362Leu Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Pro399Gln Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Pro399Leu Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Pro494Leu Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Pro494Ser Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Pro535Ser Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Pro538Ser Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Pro549Ala Uncertain significance Multiple submitters
LTBP3-related disorder

Predictors split 133

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

LTBP3 p.Ala238Pro Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Arg1303Cys Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Arg378Leu Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Arg425His Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Arg442His Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Arg821Trp Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Asn89Lys Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Asp924Gly Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Asp930His Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Glu1215Gly Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Glu1220Lys Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Glu475Lys Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Glu702Lys Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Gly105Val Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Gly1102Ala Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Gly1146Val Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Gly1154Arg Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Gly1287Ser Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Gly43Arg Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Gly43Glu Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Leu970Phe Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Pro342Leu Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Ser1195Phe Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Ser306Arg Uncertain significance Multiple submitters
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Ser696Cys Uncertain significance Multiple submitters
geleophysic dysplasia 3
LTBP3 p.Thr926Ile Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Val1229Met Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Val1274Met Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Val937Leu Uncertain significance Multiple submitters
Inborn genetic diseases
LTBP3 p.Ala310Thr Uncertain significance Single submitter
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Ala449Thr Uncertain significance Single submitter
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Ala450Val Uncertain significance Single submitter
Inborn genetic diseases
LTBP3 p.Ala67Val Uncertain significance Single submitter
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Arg1096Gly Conflicting Single submitter
Inborn genetic diseases
LTBP3 p.Arg109Leu Uncertain significance Single submitter
Inborn genetic diseases
LTBP3 p.Arg1249Cys Uncertain significance Single submitter
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Arg1281Leu Uncertain significance Single submitter
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Arg1290His Uncertain significance Single submitter
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Arg138His Uncertain significance Single submitter
Inborn genetic diseases
LTBP3 p.Arg407His Uncertain significance Single submitter
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Arg545Cys Uncertain significance Single submitter
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Arg606Trp Uncertain significance Single submitter
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Arg61Leu Uncertain significance Single submitter
Inborn genetic diseases
LTBP3 p.Arg692Gly Uncertain significance Single submitter
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Arg692Trp Uncertain significance Single submitter
Inborn genetic diseases
LTBP3 p.Arg857Trp Uncertain significance Single submitter
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Asn1262Lys Uncertain significance Single submitter
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Asn292Lys Uncertain significance Single submitter
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Asn581Tyr Uncertain significance Single submitter
Inborn genetic diseases
LTBP3 p.Asn686Lys Conflicting Single submitter
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Asn922Tyr Uncertain significance Single submitter
Inborn genetic diseases
LTBP3 p.Asp1198Val Uncertain significance Single submitter
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Asp302Ala Uncertain significance Single submitter
Inborn genetic diseases
LTBP3 p.Asp660Glu Uncertain significance Single submitter
Inborn genetic diseases
LTBP3 p.Asp903Ala Uncertain significance Single submitter
LTBP3 p.Asp924His Uncertain significance Single submitter
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Cys289Trp Uncertain significance Single submitter
Inborn genetic diseases
LTBP3 p.Gln189Leu Uncertain significance Single submitter
Inborn genetic diseases
LTBP3 p.Gln241Pro Uncertain significance Single submitter
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Gln281Pro Uncertain significance Single submitter
Inborn genetic diseases
LTBP3 p.Gln426His Uncertain significance Single submitter
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Gln468His Uncertain significance Single submitter
LTBP3 p.Gln939Leu Uncertain significance Single submitter
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Gln940Lys Uncertain significance Single submitter
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Glu453Lys Uncertain significance Single submitter
Inborn genetic diseases
LTBP3 p.Glu702Gly Uncertain significance Single submitter
Inborn genetic diseases
LTBP3 p.Glu95Lys Uncertain significance Single submitter
Inborn genetic diseases
LTBP3 p.Gly105Ala Uncertain significance Single submitter
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Gly1154Trp Uncertain significance Single submitter
Inborn genetic diseases
LTBP3 p.Gly1265Arg Uncertain significance Single submitter
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Gly1278Ser Uncertain significance Single submitter
Inborn genetic diseases
LTBP3 p.Gly213Asp Uncertain significance Single submitter
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Gly296Arg Uncertain significance Single submitter
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Gly296Cys Uncertain significance Single submitter
Inborn genetic diseases
LTBP3 p.Gly312Ser Uncertain significance Single submitter
Inborn genetic diseases
LTBP3 p.Gly368Ser Uncertain significance Single submitter
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Gly43Val Uncertain significance Single submitter
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Gly474Asp Uncertain significance Single submitter
Inborn genetic diseases
LTBP3 p.Gly628Arg Uncertain significance Single submitter
LTBP3 p.Gly716Cys Uncertain significance Single submitter
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Gly861Ser Uncertain significance Single submitter
Inborn genetic diseases
LTBP3 p.Gly974Ala Uncertain significance Single submitter
Inborn genetic diseases
LTBP3 p.His352Gln Uncertain significance Single submitter
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.His856Asn Uncertain significance Single submitter
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Ile827Met Uncertain significance Single submitter
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Ile827Thr Uncertain significance Single submitter
Inborn genetic diseases
LTBP3 p.Leu103Phe Uncertain significance Single submitter
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Leu209Pro Uncertain significance Single submitter
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Leu348Arg Uncertain significance Single submitter
Inborn genetic diseases
LTBP3 p.Leu76Pro Uncertain significance Single submitter
Inborn genetic diseases
LTBP3 p.Leu921Arg Uncertain significance Single submitter
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Lys1269Asn Uncertain significance Single submitter
Inborn genetic diseases
LTBP3 p.Lys299Arg Uncertain significance Single submitter
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Lys452Glu Uncertain significance Single submitter
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Lys63Asn Uncertain significance Single submitter
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Lys63Thr Uncertain significance Single submitter
Inborn genetic diseases
LTBP3 p.Lys77Asn Uncertain significance Single submitter
Inborn genetic diseases
LTBP3 p.Lys77Thr Uncertain significance Single submitter
Inborn genetic diseases
LTBP3 p.Lys975Asn Uncertain significance Single submitter
Inborn genetic diseases
LTBP3 p.Met118Ile Uncertain significance Single submitter
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Phe1159Leu Uncertain significance Single submitter
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Phe1288Leu Uncertain significance Single submitter
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Phe481Leu Uncertain significance Single submitter
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Phe62Leu Uncertain significance Single submitter
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Phe679Leu Uncertain significance Single submitter
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Pro1101Ser Uncertain significance Single submitter
Inborn genetic diseases
LTBP3 p.Pro1178Leu Uncertain significance Single submitter
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Pro133Arg Uncertain significance Single submitter
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Pro133Leu Uncertain significance Single submitter
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Pro293Leu Uncertain significance Single submitter
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Pro383Arg Uncertain significance Single submitter
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Pro389His Uncertain significance Single submitter
Inborn genetic diseases
LTBP3 p.Pro874Leu Conflicting Single submitter
Inborn genetic diseases
LTBP3 p.Ser1191Arg Uncertain significance Single submitter
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Ser1193Arg Uncertain significance Single submitter
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Ser1200Arg Uncertain significance Single submitter
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Ser181Arg Uncertain significance Single submitter
Inborn genetic diseases
LTBP3 p.Ser376Thr Uncertain significance Single submitter
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Ser403Arg Uncertain significance Single submitter
Inborn genetic diseases
LTBP3 p.Ser563Arg Uncertain significance Single submitter
LTBP3 p.Thr448Ala Uncertain significance Single submitter
Inborn genetic diseases
LTBP3 p.Thr465Ile Uncertain significance Single submitter
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Thr471Ile Uncertain significance Single submitter
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Thr471Pro Uncertain significance Single submitter
Inborn genetic diseases
LTBP3 p.Thr935Ile Uncertain significance Single submitter
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Tyr1104His Uncertain significance Single submitter
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Tyr688Cys Uncertain significance Single submitter
LTBP3 p.Val110Ala Uncertain significance Single submitter
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Val111Ala Uncertain significance Single submitter
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Val112Met Uncertain significance Single submitter
Inborn genetic diseases
LTBP3 p.Val1253Met Uncertain significance Single submitter
brachyolmia-amelogenesis imperfecta syndrome
LTBP3 p.Val617Met Uncertain significance Single submitter
Inborn genetic diseases
LTBP3 p.Val64Met Uncertain significance Single submitter
brachyolmia-amelogenesis imperfecta syndrome

All LTBP3 variants

Pathogenic 40

p.Pro45fs Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
c.1721-2A>G Single submitter brachyolmia-amelogenesis imperfecta syndrome
p.Ala163fs Single submitter brachyolmia-amelogenesis imperfecta syndrome
p.Ala777fs Single submitter brachyolmia-amelogenesis imperfecta syndrome
p.Arg579Ter Single submitter brachyolmia-amelogenesis imperfecta syndrome
p.Arg5fs Single submitter brachyolmia-amelogenesis imperfecta syndrome
p.Cys1223_Val1224insTer Single submitter brachyolmia-amelogenesis imperfecta syndrome
p.Cys852fs Single submitter brachyolmia-amelogenesis imperfecta syndrome
p.Gln257fs Single submitter brachyolmia-amelogenesis imperfecta syndrome
p.Gln491fs Single submitter brachyolmia-amelogenesis imperfecta syndrome
p.Gln854fs Single submitter brachyolmia-amelogenesis imperfecta syndrome
p.Glu1216Ter Single submitter geleophysic dysplasia 3
p.Glu495fs Single submitter brachyolmia-amelogenesis imperfecta syndrome
p.Glu621fs Single submitter brachyolmia-amelogenesis imperfecta syndrome
p.Glu941Ter Single submitter brachyolmia-amelogenesis imperfecta syndrome
p.Gly388fs Single submitter brachyolmia-amelogenesis imperfecta syndrome
p.Gly673Cys Single submitter geleophysic dysplasia 3
p.Gly739fs Single submitter brachyolmia-amelogenesis imperfecta syndrome
p.Gly860fs Single submitter brachyolmia-amelogenesis imperfecta syndrome
p.Ile543fs Single submitter brachyolmia-amelogenesis imperfecta syndrome
p.Lys1206fs Single submitter brachyolmia-amelogenesis imperfecta syndrome
p.Pro374fs Single submitter brachyolmia-amelogenesis imperfecta syndrome
p.Pro549fs Single submitter brachyolmia-amelogenesis imperfecta syndrome
p.Ser1140fs Single submitter brachyolmia-amelogenesis imperfecta syndrome
p.Ter1304Cys Single submitter geleophysic dysplasia 3
p.Thr166fs Single submitter brachyolmia-amelogenesis imperfecta syndrome
p.Thr325fs Single submitter brachyolmia-amelogenesis imperfecta syndrome
p.Trp1170Ter Single submitter brachyolmia-amelogenesis imperfecta syndrome
p.Trp311Ter Single submitter brachyolmia-amelogenesis imperfecta syndrome
p.Tyr461Ter Single submitter brachyolmia-amelogenesis imperfecta syndrome
p.Tyr848fs Single submitter brachyolmia-amelogenesis imperfecta syndrome
p.Val179fs Single submitter brachyolmia-amelogenesis imperfecta syndrome
p.Val524fs Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1531+1G>T No assertion criteria brachyolmia-amelogenesis imperfecta syndrome
c.1846+5G>A No assertion criteria geleophysic dysplasia 3
c.3629-1G>T No assertion criteria brachyolmia-amelogenesis imperfecta syndrome
p.Cys620fs No assertion criteria brachyolmia-amelogenesis imperfecta syndrome
p.Gln141Ter No assertion criteria brachyolmia-amelogenesis imperfecta syndrome
p.Tyr691fs No assertion criteria brachyolmia-amelogenesis imperfecta syndrome
p.Val786fs No assertion criteria brachyolmia-amelogenesis imperfecta syndrome

Pathogenic/Likely pathogenic 2

p.Arg1209fs Multiple submitters LTBP3-related disorder
p.Glu1192Ter Multiple submitters geleophysic dysplasia 1

Likely pathogenic 32

c.1063+1G>T Multiple submitters LTBP3-related disorder
c.1063+1G>A Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1064-2A>G Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1187-25_1187del Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1346-1G>A Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1531+1G>A Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1531+2del Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1621+1G>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1720+1dup Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1720+1G>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1721-1G>A Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1979-1G>A Single submitter geleophysic dysplasia 3
c.1979-1G>C Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1979-2A>G Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2231-1G>C Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2726-1G>A Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2893+1G>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2894-1G>A Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.3628+2T>C Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.3629-2A>G Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.646_661+26del Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.662-2A>C Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.864+2T>C Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.971-1G>A Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.971-2A>C Single submitter brachyolmia-amelogenesis imperfecta syndrome
p.Asn746fs Single submitter brachyolmia-amelogenesis imperfecta syndrome
p.Asp282fs Single submitter LTBP3-related disorder
p.Glu42fs Single submitter LTBP3-related disorder
p.Thr151fs Single submitter LTBP3-related disorder
p.Arg1135fs No assertion criteria LTBP3-related disorder
p.Cys1239Tyr No assertion criteria amelogenesis imperfecta
p.Phe832fs No assertion criteria brachyolmia-amelogenesis imperfecta syndrome

Conflicting classifications of pathogenicity 18

c.1846+6C>G Single submitter brachyolmia-amelogenesis imperfecta syndrome
p.Ala1172Thr Single submitter brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Ala1182= Single submitter brachyolmia-amelogenesis imperfecta syndrome
p.Arg1096Gly Single submitter Inborn genetic diseases ⚠
p.Asn686Lys Single submitter brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Asp820Asn Single submitter geleophysic dysplasia 3 ⚠
p.Ile395Val Single submitter Inborn genetic diseases ⚠
p.Leu33_Leu35dup Single submitter brachyolmia-amelogenesis imperfecta syndrome
p.Leu34_Leu35dup Single submitter brachyolmia-amelogenesis imperfecta syndrome
p.Pro1293_Arg1303dup Single submitter brachyolmia-amelogenesis imperfecta syndrome
p.Pro288= Single submitter brachyolmia-amelogenesis imperfecta syndrome
p.Pro330Leu Single submitter Inborn genetic diseases ⚠
p.Pro517Leu Single submitter brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Pro540= Single submitter Inborn genetic diseases
p.Pro874Leu Single submitter Inborn genetic diseases ⚠
p.Ter1304del Single submitter brachyolmia-amelogenesis imperfecta syndrome
p.Thr448= Single submitter Inborn genetic diseases
p.Val364Met Single submitter brachyolmia-amelogenesis imperfecta syndrome ⚠

Benign 26

c.1531+178A>G Multiple submitters
c.1979-11C>G Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
c.2107+62G>A Multiple submitters
c.2107+80T>A Multiple submitters
c.2107+8G>A Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
c.3548-9T>C Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
c.971-53C>T Multiple submitters
c.-30C>T Multiple submitters
p.Ala438Val Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Cys359= Multiple submitters geleophysic dysplasia 3
p.Leu35dup Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
c.1186+18G>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1187-15del Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1531+15dup Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1532-3del Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1846+7G>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2107+90_2107+91del Single submitter
c.2107+95del Single submitter
c.2596+130ATCC[10] Single submitter
c.2596+130ATCC[12] Single submitter
c.2597-133dup Single submitter
c.2726-13G>A Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.331+10G>A Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.331+14del Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.*195C>T Single submitter
p.Pro236= Single submitter brachyolmia-amelogenesis imperfecta syndrome

Benign/Likely benign 18

c.1064-10C>T Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
c.2107+13C>T Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
c.2353+14C>T Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
c.3629-20T>C Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
c.3761-15C>T Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
c.662-16C>T Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
c.864+18C>T Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Asp1145= Multiple submitters Inborn genetic diseases
p.Cys379= Multiple submitters Inborn genetic diseases
p.Gln1173= Multiple submitters geleophysic dysplasia 3
p.Leu33_Leu35del Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Leu35del Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Pro268= Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Pro295= Multiple submitters Inborn genetic diseases
p.Pro444= Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Ser1191= Multiple submitters Inborn genetic diseases
p.Ser519Asn Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Ser963= Multiple submitters Inborn genetic diseases

Likely benign 591

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

c.1063+13A>G Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
c.1345+7C>T Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
c.1622-8G>A Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
c.1721-13G>A Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
c.1721-15T>G Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
c.1721-4G>A Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
c.1846+7G>A Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
c.1847-12C>T Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
c.1979-9C>T Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
c.2477-11A>T Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
c.2725+7G>A Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
c.332-17C>T Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
c.3628+12C>T Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
c.3760+18G>A Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
c.971-8C>T Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Ala1153= Multiple submitters Inborn genetic diseases
p.Ala1156= Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Ala1235= Multiple submitters Inborn genetic diseases
p.Ala1247= Multiple submitters Inborn genetic diseases
p.Ala1286= Multiple submitters Inborn genetic diseases
p.Ala147= Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Ala180= Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Ala187= Multiple submitters Inborn genetic diseases
p.Ala438= Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Ala965= Multiple submitters Inborn genetic diseases
p.Arg1135= Multiple submitters Inborn genetic diseases
p.Arg1168= Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Arg1249= Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Arg126= Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Arg1272= Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Arg1290= Multiple submitters Inborn genetic diseases
p.Arg1301= Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Arg439= Multiple submitters Inborn genetic diseases
p.Arg562= Multiple submitters Inborn genetic diseases
p.Arg61= Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Arg708= Multiple submitters Inborn genetic diseases
p.Asn618= Multiple submitters Inborn genetic diseases
p.Asp1136= Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Asp1160= Multiple submitters Inborn genetic diseases
p.Asp1198= Multiple submitters Inborn genetic diseases
p.Asp1219= Multiple submitters Inborn genetic diseases
p.Asp1256= Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Asp177= Multiple submitters Inborn genetic diseases
p.Asp355= Multiple submitters Inborn genetic diseases
p.Asp485= Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Asp557= Multiple submitters Inborn genetic diseases
p.Asp616= Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Asp787= Multiple submitters Inborn genetic diseases
p.Asp793= Multiple submitters Inborn genetic diseases
p.Cys1148= Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Cys1164= Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Cys1258= Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Cys405= Multiple submitters Inborn genetic diseases
p.Cys578= Multiple submitters Inborn genetic diseases
p.Cys701= Multiple submitters Inborn genetic diseases
p.Cys836= Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Cys883= Multiple submitters Inborn genetic diseases
p.Cys971= Multiple submitters Inborn genetic diseases
p.Gln321= Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Gln902= Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Gln912= Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Gln939= Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Glu1271= Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Glu175= Multiple submitters Inborn genetic diseases
p.Glu520= Multiple submitters Inborn genetic diseases
p.Glu918= Multiple submitters Inborn genetic diseases
p.Gly10= Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Gly107= Multiple submitters Inborn genetic diseases
p.Gly1150= Multiple submitters Inborn genetic diseases
p.Gly1167= Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Gly1169= Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Gly120= Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Gly1234= Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Gly1241= Multiple submitters Inborn genetic diseases
p.Gly1278= Multiple submitters Inborn genetic diseases
p.Gly152= Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Gly162= Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Gly19= Multiple submitters Inborn genetic diseases
p.Gly344= Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Gly437= Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Gly44= Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Gly593= Multiple submitters Inborn genetic diseases
p.Gly674= Multiple submitters Inborn genetic diseases
p.Gly792= Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Gly838= Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.His183= Multiple submitters Inborn genetic diseases
p.His205= Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.His367= Multiple submitters Inborn genetic diseases
p.His385= Multiple submitters Inborn genetic diseases
p.His413= Multiple submitters Inborn genetic diseases
p.His462= Multiple submitters Inborn genetic diseases
p.His668= Multiple submitters Inborn genetic diseases
p.His816= Multiple submitters Inborn genetic diseases
p.Ile543= Multiple submitters Inborn genetic diseases
p.Ile584= Multiple submitters Inborn genetic diseases
p.Ile93= Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Leu11= Multiple submitters Inborn genetic diseases
p.Leu1245= Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Leu209= Multiple submitters Inborn genetic diseases
p.Leu259= Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Leu322= Multiple submitters Inborn genetic diseases
p.Leu404= Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Leu669= Multiple submitters Inborn genetic diseases
p.Leu817= Multiple submitters Inborn genetic diseases
p.Leu921= Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Phe1159= Multiple submitters Inborn genetic diseases
p.Phe1196= Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Phe832= Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Pro1114= Multiple submitters Inborn genetic diseases
p.Pro1116= Multiple submitters Inborn genetic diseases
p.Pro116= Multiple submitters Inborn genetic diseases
p.Pro1179= Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Pro1187= Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Pro1201= Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Pro1240= Multiple submitters Inborn genetic diseases
p.Pro133= Multiple submitters Inborn genetic diseases
p.Pro156= Multiple submitters Inborn genetic diseases
p.Pro170= Multiple submitters Inborn genetic diseases
p.Pro2= Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Pro214= Multiple submitters Inborn genetic diseases
p.Pro362= Multiple submitters Inborn genetic diseases
p.Pro389= Multiple submitters Inborn genetic diseases
p.Pro399= Multiple submitters Inborn genetic diseases
p.Pro4= Multiple submitters Inborn genetic diseases
p.Pro487= Multiple submitters Inborn genetic diseases
p.Pro494= Multiple submitters Inborn genetic diseases
p.Pro549= Multiple submitters Inborn genetic diseases
p.Pro556= Multiple submitters Inborn genetic diseases
p.Pro595= Multiple submitters Inborn genetic diseases
p.Pro627= Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Pro680= Multiple submitters Inborn genetic diseases
p.Pro874= Multiple submitters Inborn genetic diseases
p.Pro879= Multiple submitters Inborn genetic diseases
p.Ser1044= Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Ser106= Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Ser1195= Multiple submitters Inborn genetic diseases
p.Ser1270= Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Ser159= Multiple submitters Inborn genetic diseases
p.Ser479= Multiple submitters Inborn genetic diseases
p.Ser818= Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Thr102= Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Thr104= Multiple submitters Inborn genetic diseases
p.Thr151= Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Thr309= Multiple submitters Inborn genetic diseases
p.Thr469= Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Thr514= Multiple submitters Inborn genetic diseases
p.Thr533= Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Thr803= Multiple submitters Inborn genetic diseases
p.Thr926= Multiple submitters Inborn genetic diseases
p.Tyr539= Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Tyr986= Multiple submitters Inborn genetic diseases
p.Val1229= Multiple submitters Inborn genetic diseases
p.Val1236= Multiple submitters Inborn genetic diseases
p.Val700= Multiple submitters Inborn genetic diseases
c.1064-11A>G Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1064-11A>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1064-13C>T Single submitter
c.1186+16C>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1186+18G>A Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1186+19G>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1187-13C>A Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1187-14A>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1187-15_1187-6del Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1187-16C>G Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1187-16C>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1187-20C>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1187-5T>C Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1187-9C>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1345+11G>A Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1345+15C>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1345+17C>A Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1345+17C>G Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1345+17C>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1345+18G>A Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1345+19G>C Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1345+7C>A Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1345+8A>G Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1346-18C>G Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1346-19T>A Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1346-20G>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1531+12C>A Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1531+18C>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1531+7C>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1532-11_1532-9del Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1532-15C>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1532-9C>A Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1548+9G>A Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1549-11G>A Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1549-16C>A Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1549-16C>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1549-18T>C Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1549-4G>A Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1549-5C>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1549-7C>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1621+9G>A Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1622-10C>A Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1622-10C>T Single submitter
c.1622-12T>G Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1622-4G>A Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1622-5C>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1622-5del Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1622-8G>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1720+13C>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1720+18A>G Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1720+20G>C Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1720+8C>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1720+9C>G Single submitter
c.1720+9C>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1721-5C>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1721-8G>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1721-9T>C Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1846+16G>A Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1846+18G>A Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1846+18G>C Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1846+20C>A Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1846+9A>T Single submitter
c.1847-11G>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1847-14C>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1847-7T>C Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1847-8C>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1979-12C>G Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1979-14T>C Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1979-15C>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1979-17C>G Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1979-4A>G Single submitter
c.1979-7C>G Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1979-7C>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1979-8C>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2107+11C>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2108-10T>G Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2108-18C>A Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2108-19C>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2108-6G>A Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2108-8C>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2108-9C>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2230+11G>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2230+19G>A Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2231-18T>G Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2231-19C>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2231-6C>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2354-11A>G Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2354-14C>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2354-17C>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2354-19C>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2354-4G>A Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2354-6C>T Single submitter
c.2354-9G>A Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2476+14G>C Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2476+18T>C Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2477-11A>G Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2477-14_2477-5dup Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2477-17C>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2477-4A>G Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2477-9C>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2596+14G>A Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2596+7G>C Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2597-17C>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2597-18G>A Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2597-19C>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2597-4G>A Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2597-4G>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2597-5C>G Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2597-5C>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2597-7C>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2725+16G>A Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2725+19C>A Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2725+8T>C Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2726-14C>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2726-16G>T Single submitter
c.2726-5C>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2893+10C>A Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2893+11G>A Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2893+14C>G Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2893+15del Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2894-12C>G Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2894-6C>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2894-7C>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2894-8C>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2978-9A>G Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.3107-6C>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.3244+14dup Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.3245-20C>A Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.331+12G>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.331+13G>A Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.331+14G>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.331+19G>C Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.332-11C>G Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.332-16C>A Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.332-16C>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.332-18C>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.332-6C>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.3386-6C>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.3547+16A>G Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.3547+7C>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.3547+9G>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.3548-18C>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.3628+10dup Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.3628+13G>A Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.3628+16T>G Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.3628+17C>A Single submitter brachyolmia-amelogenesis imperfecta syndrome

Uncertain significance 783

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

c.3629-3C>T Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
c.3761-2A>G Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Ala1149Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala1153Val Multiple submitters Inborn genetic diseases ⚠
p.Ala1182Val Multiple submitters Inborn genetic diseases ⚠
p.Ala1250Pro Multiple submitters Inborn genetic diseases ⚠
p.Ala1289Val Multiple submitters Inborn genetic diseases ⚠
p.Ala1296Val Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Ala144Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala144Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala147Thr Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Ala147Val Multiple submitters Inborn genetic diseases ⚠
p.Ala163Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala168Ser Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Ala173Ser Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Ala180Thr Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Ala187Thr Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Ala203Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala207Val Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Ala20Thr Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Ala219Val Multiple submitters Inborn genetic diseases ⚠
p.Ala238Pro Multiple submitters Inborn genetic diseases ⚠
p.Ala250Thr Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Ala253Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala25Val Multiple submitters Inborn genetic diseases ⚠
p.Ala339Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala360Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala438Thr Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Ala457Ser Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Ala500Pro Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Ala665Ser Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Ala8Thr Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Ala965Val Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Arg1134Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg1142Ser Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Arg1165His Multiple submitters Inborn genetic diseases ⚠
p.Arg1222Leu Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Arg1227His Multiple submitters Inborn genetic diseases ⚠
p.Arg1231Trp Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Arg1259Gln Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Arg1259Ter Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Arg1272His Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Arg1281Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg1281His Multiple submitters Inborn genetic diseases ⚠
p.Arg1292Cys Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Arg1292His Multiple submitters Inborn genetic diseases ⚠
p.Arg1302His Multiple submitters Inborn genetic diseases ⚠
p.Arg1303Cys Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Arg1303His Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Arg1303Ser Multiple submitters Inborn genetic diseases
p.Arg138Cys Multiple submitters LTBP3-related disorder ⚠
p.Arg269Gly Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Arg334His Multiple submitters Inborn genetic diseases ⚠
p.Arg334Pro Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Arg366His Multiple submitters Inborn genetic diseases ⚠
p.Arg378Leu Multiple submitters Inborn genetic diseases ⚠
p.Arg391His Multiple submitters Inborn genetic diseases ⚠
p.Arg422His Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Arg425His Multiple submitters Inborn genetic diseases ⚠
p.Arg439Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg442His Multiple submitters Inborn genetic diseases ⚠
p.Arg545His Multiple submitters Inborn genetic diseases ⚠
p.Arg552His Multiple submitters Inborn genetic diseases ⚠
p.Arg562Gly Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Arg579Gly Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Arg612His Multiple submitters Inborn genetic diseases ⚠
p.Arg697Gln Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Arg819Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg81Trp Multiple submitters Inborn genetic diseases
p.Arg821Gln Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Arg821Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg857Gln Multiple submitters Inborn genetic diseases ⚠
p.Asn1099Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn1275Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn357= Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Asn686Ser Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Asn89Lys Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Asp1136Asn Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Asp1136Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp1160His Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Asp672Asn Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Asp796Asn Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Asp828His Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Asp924Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp930His Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Asp973Glu Multiple submitters Inborn genetic diseases ⚠
p.Cys685Trp Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Cys730Arg Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Cys830Arg Multiple submitters Inborn genetic diseases ⚠
p.Cys971Tyr Multiple submitters Inborn genetic diseases ⚠
p.Gln1141His Multiple submitters Inborn genetic diseases ⚠
p.Gln1190Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln1300His Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Gln257Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln313His Multiple submitters Inborn genetic diseases
p.Gln468Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln499Glu Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Glu1107Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu1211Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu1215Gly Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Glu1220Lys Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Glu1257Ter Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Glu251Gly Multiple submitters Inborn genetic diseases ⚠
p.Glu251Lys Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Glu358Lys Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Glu42Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu475Lys Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Glu702Lys Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Glu825Gln Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Glu825Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu908Gln Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Gly105Val Multiple submitters Inborn genetic diseases ⚠
p.Gly1102Ala Multiple submitters Inborn genetic diseases ⚠
p.Gly1146Val Multiple submitters Inborn genetic diseases ⚠
p.Gly1154Arg Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Gly1167Ser Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Gly1181Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly1226Ser Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Gly1234Ser Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Gly1278Asp Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Gly1287Ser Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Gly148Asp Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Gly150Val Multiple submitters Inborn genetic diseases ⚠
p.Gly152Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly153Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly157Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly162Ala Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Gly308Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly433Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly43Ala Multiple submitters Inborn genetic diseases ⚠
p.Gly43Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly43Glu Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Gly43Trp Multiple submitters Inborn genetic diseases
p.Gly44Ala Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Gly44Trp Multiple submitters Inborn genetic diseases ⚠
p.Gly460Arg Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Gly54Asp Multiple submitters Inborn genetic diseases ⚠
p.Gly54Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly681Arg Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Gly855Ala Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.His267Gln Multiple submitters Inborn genetic diseases ⚠
p.His367Arg Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.His467Arg Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.His668Gln Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.His816Tyr Multiple submitters Inborn genetic diseases ⚠
p.Ile567Val Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Ile837Thr Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Leu30Arg Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Leu32_Leu35del Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Leu34_Leu35del Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Leu693Ile Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Leu812Phe Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Leu812Val Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Leu970Phe Multiple submitters Inborn genetic diseases ⚠
p.Lys182Thr Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Lys917del Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Met551Thr Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Met633Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro1070Ser Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Pro1094Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro1101Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro1110Leu Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Pro1176Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro1179Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro1230Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro1232Ser Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Pro1299Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro143Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro143Thr Multiple submitters Inborn genetic diseases ⚠
p.Pro156Arg Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Pro201Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro214Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro224Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro225Leu Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Pro226Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro255His Multiple submitters Inborn genetic diseases ⚠
p.Pro261Arg Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Pro270Ser Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Pro271Ser Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Pro342Leu Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Pro362Leu Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Pro399Gln Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Pro399Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro494Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro494Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro535Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro538Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro549Ala Multiple submitters LTBP3-related disorder ⚠
p.Pro556Arg Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Pro595His Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Pro972Ser Multiple submitters Inborn genetic diseases
p.Ser1189Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser1193Asn Multiple submitters Inborn genetic diseases ⚠
p.Ser1195Phe Multiple submitters Inborn genetic diseases ⚠
p.Ser1218Leu Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Ser1225Asn Multiple submitters Inborn genetic diseases ⚠
p.Ser159Asn Multiple submitters Inborn genetic diseases ⚠
p.Ser306Arg Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Ser386Arg Multiple submitters brachyolmia-amelogenesis imperfecta syndrome
p.Ser516Pro Multiple submitters Inborn genetic diseases ⚠
p.Ser544Pro Multiple submitters Inborn genetic diseases ⚠
p.Ser696Cys Multiple submitters geleophysic dysplasia 3 ⚠
p.Ser711Asn Multiple submitters Inborn genetic diseases ⚠
p.Ser806Phe Multiple submitters geleophysic dysplasia ⚠
p.Ser806Thr Multiple submitters Inborn genetic diseases ⚠
p.Thr104Met Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Thr166Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr283Ser Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Thr448Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr469Met Multiple submitters Inborn genetic diseases ⚠
p.Thr513Ala Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Thr803Met Multiple submitters Inborn genetic diseases ⚠
p.Thr926Ile Multiple submitters Inborn genetic diseases ⚠
p.Val1098Ala Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Val1098Ile Multiple submitters Inborn genetic diseases ⚠
p.Val1098Leu Multiple submitters Inborn genetic diseases ⚠
p.Val1229Met Multiple submitters Inborn genetic diseases ⚠
p.Val1236Met Multiple submitters Inborn genetic diseases ⚠
p.Val1274Met Multiple submitters Inborn genetic diseases ⚠
p.Val227Leu Multiple submitters Inborn genetic diseases ⚠
p.Val432Ile Multiple submitters Inborn genetic diseases ⚠
p.Val512Met Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Val524Leu Multiple submitters brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Val659Leu Multiple submitters Inborn genetic diseases ⚠
p.Val794Met Multiple submitters Inborn genetic diseases ⚠
p.Val910Met Multiple submitters Inborn genetic diseases ⚠
p.Val937Leu Multiple submitters Inborn genetic diseases ⚠
c.1063+2_1063+5dup Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1186+5del Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1532-32_1532-17del Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1621+4A>C Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1721-3C>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1721-5C>A Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1721-7C>G Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1721-9T>A Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1846+3G>A Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1846+6C>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.1847-20G>A Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2224_2230+14dup Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2354-10del Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2476+3G>A Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2477-12_2477-3dup Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2477-3C>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2596+5G>A Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2596+6G>A Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2725+6T>C Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2894-3C>T Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.2978-11T>C Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.332-19_332-17del Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.3628+5G>A Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.3628+5G>C Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.662-7C>A Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.864+5G>A Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.970+3G>A Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.970+5G>A Single submitter brachyolmia-amelogenesis imperfecta syndrome
c.971-12CT[3] Single submitter brachyolmia-amelogenesis imperfecta syndrome
p.Ala1090Val Single submitter brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Ala1247Thr Single submitter Inborn genetic diseases ⚠
p.Ala1250Thr Single submitter Inborn genetic diseases ⚠
p.Ala1250Val Single submitter brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Ala1286Val Single submitter brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Ala1289Ser Single submitter Inborn genetic diseases ⚠
p.Ala1289Thr Single submitter Inborn genetic diseases ⚠
p.Ala1296Thr Single submitter brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Ala12Gly Single submitter Inborn genetic diseases ⚠
p.Ala144Val Single submitter brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Ala163Asp Single submitter Inborn genetic diseases ⚠
p.Ala163Pro Single submitter Inborn genetic diseases ⚠
p.Ala168Glu Single submitter Inborn genetic diseases ⚠
p.Ala18_Gly22del Single submitter brachyolmia-amelogenesis imperfecta syndrome
p.Ala184Thr Single submitter brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Ala187Ser Single submitter brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Ala18Thr Single submitter Inborn genetic diseases ⚠
p.Ala206Thr Single submitter brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Ala20Ser Single submitter brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Ala20Val Single submitter ⚠
p.Ala21Glu Single submitter brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Ala21Val Single submitter brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Ala238Ser Single submitter brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Ala253Thr Single submitter Inborn genetic diseases ⚠
p.Ala254Val Single submitter Inborn genetic diseases ⚠
p.Ala310Gly Single submitter Inborn genetic diseases ⚠
p.Ala310Thr Single submitter brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Ala438Met Single submitter brachyolmia-amelogenesis imperfecta syndrome
p.Ala449Thr Single submitter brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Ala450Val Single submitter Inborn genetic diseases ⚠
p.Ala46Ser Single submitter brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Ala500Ser Single submitter brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Ala665Thr Single submitter brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Ala67Val Single submitter brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Ala7Ser Single submitter Inborn genetic diseases ⚠
p.Ala7Thr Single submitter ⚠
p.Ala7Val Single submitter brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Ala835Val Single submitter brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Arg1073His Single submitter Inborn genetic diseases ⚠
p.Arg1096Leu Single submitter Inborn genetic diseases ⚠
p.Arg109Leu Single submitter Inborn genetic diseases ⚠
p.Arg1105His Single submitter Inborn genetic diseases ⚠
p.Arg1134Trp Single submitter brachyolmia-amelogenesis imperfecta syndrome ⚠
p.Arg1135Cys Single submitter Inborn genetic diseases ⚠