DDR2 — 461 ClinVar variants
All ClinVar germline DDR2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 194 flagged for review →
13 Pathogenic · 3 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 28 Conflicting · 30 Benign · 9 Benign/Likely benign · 146 Likely benign · 222 Uncertain significance
Full DDR2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 194
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 10
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
DDR2 p.Arg839His
Conflicting
Single submitter
spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
- DDR2 p.Asp81Glu Conflicting Single submitter
-
DDR2 p.Gly505Ser
Conflicting
Single submitter
warburg-cinotti syndrome
-
DDR2 p.Ile488Met
Conflicting
Single submitter
Inborn genetic diseases
-
DDR2 p.Met441Ile
Conflicting
Single submitter
connective tissue disorder
-
DDR2 p.Ser311Asn
Conflicting
Single submitter
connective tissue disorder
-
DDR2 p.Ser461Leu
Conflicting
Single submitter
Inborn genetic diseases
-
DDR2 p.Thr170Ser
Conflicting
Single submitter
spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
-
DDR2 p.Thr385Ser
Conflicting
Single submitter
Inborn genetic diseases
-
DDR2 p.Tyr740Cys
Conflicting
Single submitter
warburg-cinotti syndrome
Predictors lean, ClinVar uncertain 146
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
DDR2 p.Arg128His
Uncertain significance
Multiple submitters
spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
-
DDR2 p.Arg307Cys
Uncertain significance
Multiple submitters
spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
-
DDR2 p.Arg399Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
- DDR2 p.Arg473His Uncertain significance Multiple submitters
-
DDR2 p.Arg668His
Uncertain significance
Multiple submitters
spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
-
DDR2 p.Arg742Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DDR2 p.Arg752His
Uncertain significance
Multiple submitters
spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
- DDR2 p.Asn636Asp Uncertain significance Multiple submitters
-
DDR2 p.Asn686Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DDR2 p.Asn721Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DDR2 p.Cys503Ser
Uncertain significance
Multiple submitters
spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
-
DDR2 p.Ile159Thr
Uncertain significance
Multiple submitters
spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
-
DDR2 p.Ile278Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DDR2 p.Leu34Met
Uncertain significance
Multiple submitters
spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
-
DDR2 p.Leu83Val
Uncertain significance
Multiple submitters
warburg-cinotti syndrome
- DDR2 p.Leu94Phe Uncertain significance Multiple submitters
-
DDR2 p.Met390Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DDR2 p.Met754Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DDR2 p.Pro157Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DDR2 p.Pro381Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DDR2 p.Pro671Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DDR2 p.Ser504Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DDR2 p.Thr335Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DDR2 p.Thr98Ile
Uncertain significance
Multiple submitters
warburg-cinotti syndrome
- DDR2 p.Val10Met Uncertain significance Multiple submitters
-
DDR2 p.Val140Leu
Uncertain significance
Multiple submitters
connective tissue disorder
-
DDR2 p.Val327Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DDR2 p.Ala196Val
Uncertain significance
Single submitter
Inborn genetic diseases
- DDR2 p.Ala220Val Uncertain significance Single submitter
-
DDR2 p.Ala293Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- DDR2 p.Ala317Asp Uncertain significance Single submitter
- DDR2 p.Ala368Thr Uncertain significance Single submitter
- DDR2 p.Ala767Pro Uncertain significance Single submitter
- DDR2 p.Arg105His Uncertain significance Single submitter
-
DDR2 p.Arg105Ser
Uncertain significance
Single submitter
spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
- DDR2 p.Arg133Gln Uncertain significance Single submitter
-
DDR2 p.Arg135Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDR2 p.Arg165Trp
Uncertain significance
Single submitter
spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
- DDR2 p.Arg260Gln Uncertain significance Single submitter
- DDR2 p.Arg307His Uncertain significance Single submitter
- DDR2 p.Arg31Cys Uncertain significance Single submitter
- DDR2 p.Arg473Cys Uncertain significance Single submitter
- DDR2 p.Arg478Cys Uncertain significance Single submitter
- DDR2 p.Arg478His Uncertain significance Single submitter
- DDR2 p.Arg489Gln Uncertain significance Single submitter
- DDR2 p.Arg631Gln Uncertain significance Single submitter
- DDR2 p.Arg631Trp Uncertain significance Single submitter
- DDR2 p.Arg668Cys Uncertain significance Single submitter
- DDR2 p.Arg680Cys Uncertain significance Single submitter
-
DDR2 p.Arg680Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- DDR2 p.Arg680Leu Uncertain significance Single submitter
-
DDR2 p.Arg752Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- DDR2 p.Arg839Cys Uncertain significance Single submitter
- DDR2 p.Asn146Lys Uncertain significance Single submitter
- DDR2 p.Asn457Lys Uncertain significance Single submitter
-
DDR2 p.Asn600Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDR2 p.Asn721Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- DDR2 p.Asp125Val Uncertain significance Single submitter
-
DDR2 p.Asp241Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- DDR2 p.Asp472Asn Uncertain significance Single submitter
-
DDR2 p.Asp64Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- DDR2 p.Cys404Tyr Uncertain significance Single submitter
- DDR2 p.Gln40His Uncertain significance Single submitter
-
DDR2 p.Gln808Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- DDR2 p.Glu262Asp Uncertain significance Single submitter
- DDR2 p.Glu499Asp Uncertain significance Single submitter
- DDR2 p.Glu670Lys Uncertain significance Single submitter
- DDR2 p.Glu855Lys Uncertain significance Single submitter
- DDR2 p.Gly104Arg Uncertain significance Single submitter
-
DDR2 p.Gly108Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDR2 p.Gly126Asp
Uncertain significance
Single submitter
spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
- DDR2 p.Gly143Glu Uncertain significance Single submitter
- DDR2 p.Gly235Val Uncertain significance Single submitter
- DDR2 p.Gly253Ser Uncertain significance Single submitter
- DDR2 p.Gly258Ser Uncertain significance Single submitter
-
DDR2 p.Gly35Cys
Uncertain significance
Single submitter
spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
- DDR2 p.Gly502Arg Uncertain significance Single submitter
- DDR2 p.Gly575Arg Uncertain significance Single submitter
- DDR2 p.Gly730Glu Uncertain significance Single submitter
-
DDR2 p.Gly738Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDR2 p.His669Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDR2 p.His669Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- DDR2 p.Ile298Val Uncertain significance Single submitter
- DDR2 p.Ile29Leu Uncertain significance Single submitter
- DDR2 p.Ile415Val Uncertain significance Single submitter
- DDR2 p.Ile724Val Uncertain significance Single submitter
- DDR2 p.Ile726Thr Uncertain significance Single submitter
- DDR2 p.Ile759Phe Uncertain significance Single submitter
-
DDR2 p.Leu322Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- DDR2 p.Leu324Pro Uncertain significance Single submitter
-
DDR2 p.Leu687Pro
Uncertain significance
Single submitter
spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
- DDR2 p.Lys153Asn Uncertain significance Single submitter
- DDR2 p.Lys294Asn Uncertain significance Single submitter
- DDR2 p.Lys347Glu Uncertain significance Single submitter
- DDR2 p.Lys551Glu Uncertain significance Single submitter
- DDR2 p.Lys566Arg Uncertain significance Single submitter
-
DDR2 p.Lys566Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDR2 p.Lys566Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- DDR2 p.Lys725Asn Uncertain significance Single submitter
- DDR2 p.Met272Thr Uncertain significance Single submitter
- DDR2 p.Met382Val Uncertain significance Single submitter
- DDR2 p.Met453Thr Uncertain significance Single submitter
-
DDR2 p.Met585Val
Uncertain significance
Single submitter
Inborn genetic diseases
- DDR2 p.Met754Val Uncertain significance Single submitter
-
DDR2 p.Phe306Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- DDR2 p.Phe494Ile Uncertain significance Single submitter
-
DDR2 p.Pro321Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDR2 p.Pro384Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDR2 p.Pro479Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- DDR2 p.Pro817Arg Uncertain significance Single submitter
- DDR2 p.Ser193Tyr Uncertain significance Single submitter
- DDR2 p.Ser263Asn Uncertain significance Single submitter
-
DDR2 p.Ser308Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- DDR2 p.Ser319Phe Uncertain significance Single submitter
-
DDR2 p.Ser366Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- DDR2 p.Ser37Thr Uncertain significance Single submitter
-
DDR2 p.Ser449Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- DDR2 p.Ser451Phe Uncertain significance Single submitter
- DDR2 p.Ser452Thr Uncertain significance Single submitter
- DDR2 p.Ser459Phe Uncertain significance Single submitter
- DDR2 p.Ser469Leu Uncertain significance Single submitter
-
DDR2 p.Ser485Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDR2 p.Ser598Asn
Uncertain significance
Single submitter
warburg-cinotti syndrome
- DDR2 p.Ser737Arg Uncertain significance Single submitter
-
DDR2 p.Ser790Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- DDR2 p.Thr127Ile Uncertain significance Single submitter
- DDR2 p.Thr226Arg Uncertain significance Single submitter
- DDR2 p.Thr282Pro Uncertain significance Single submitter
- DDR2 p.Thr283Ala Uncertain significance Single submitter
-
DDR2 p.Thr379Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDR2 p.Thr379Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- DDR2 p.Thr681Ile Uncertain significance Single submitter
- DDR2 p.Thr685Ile Uncertain significance Single submitter
-
DDR2 p.Trp72Leu
Uncertain significance
Single submitter
spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
-
DDR2 p.Tyr217Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- DDR2 p.Tyr32His Uncertain significance Single submitter
-
DDR2 p.Val236Met
Uncertain significance
Single submitter
Inborn genetic diseases
- DDR2 p.Val250Met Uncertain significance Single submitter
- DDR2 p.Val257Leu Uncertain significance Single submitter
- DDR2 p.Val506Ile Uncertain significance Single submitter
- DDR2 p.Val510Ala Uncertain significance Single submitter
- DDR2 p.Val543Ile Uncertain significance Single submitter
- DDR2 p.Val555Ala Uncertain significance Single submitter
- DDR2 p.Val707Ala Uncertain significance Single submitter
- DDR2 p.Val824Ala Uncertain significance Single submitter
-
DDR2 p.Ser460Leu
Uncertain significance
No assertion criteria
DDR2-related disorder
Predictors split 38
The independent predictors disagree with each other — read with care.
-
DDR2 p.Arg165Gln
Uncertain significance
Multiple submitters
spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
-
DDR2 p.Arg260Trp
Uncertain significance
Multiple submitters
spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
-
DDR2 p.Arg742Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
- DDR2 p.Asn146Ser Uncertain significance Multiple submitters
-
DDR2 p.Asp835Gly
Uncertain significance
Multiple submitters
spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
-
DDR2 p.Gln796Leu
Uncertain significance
Multiple submitters
spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
- DDR2 p.Glu262Lys Uncertain significance Multiple submitters
-
DDR2 p.Glu799Asp
Uncertain significance
Multiple submitters
spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
-
DDR2 p.Ile474Thr
Uncertain significance
Multiple submitters
spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
-
DDR2 p.Leu239Pro
Uncertain significance
Multiple submitters
spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
- DDR2 p.Leu63Val Uncertain significance Multiple submitters
-
DDR2 p.Met174Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- DDR2 p.Met657Leu Uncertain significance Multiple submitters
-
DDR2 p.Ser173Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DDR2 p.Tyr471Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- DDR2 p.Ala727Gly Uncertain significance Single submitter
- DDR2 p.Arg133Trp Uncertain significance Single submitter
- DDR2 p.Arg277Cys Uncertain significance Single submitter
-
DDR2 p.Arg277His
Uncertain significance
Single submitter
Inborn genetic diseases
- DDR2 p.Arg611Gln Uncertain significance Single submitter
-
DDR2 p.Arg746Gln
Uncertain significance
Single submitter
spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
- DDR2 p.Asp171Gly Uncertain significance Single submitter
-
DDR2 p.Asp64Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDR2 p.Gln808Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- DDR2 p.Gln808His Uncertain significance Single submitter
- DDR2 p.Glu430Lys Uncertain significance Single submitter
- DDR2 p.Gly35Ser Uncertain significance Single submitter
-
DDR2 p.Gly39Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDR2 p.His92Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDR2 p.Ile278Asn
Uncertain significance
Single submitter
spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
-
DDR2 p.Ile474Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- DDR2 p.Leu338Phe Uncertain significance Single submitter
-
DDR2 p.Leu650Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDR2 p.Met690Val
Conflicting
Single submitter
connective tissue disorder
-
DDR2 p.Thr723Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDR2 p.Thr723Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDR2 p.Thr782Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- DDR2 p.Val100Leu Uncertain significance Single submitter
All DDR2 variants
Pathogenic 13
- p.Arg709Ter Single submitter
- p.Arg714Ter Single submitter
- p.Gln349Ter Single submitter
- p.Glu113Lys Single submitter spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
- p.Glu571Ter Single submitter
- p.Glu803fs Single submitter
- p.Gly228_Leu229insTer Single submitter
- p.Gly38fs Single submitter
- p.Ser461Ter Single submitter
- p.Tyr256Ter Single submitter
- c.2283+1G>A No assertion criteria spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
- p.Ile726Arg No assertion criteria spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
- p.Thr713Ile No assertion criteria spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
Pathogenic/Likely pathogenic 3
- p.Arg341Ter Multiple submitters DDR2-related disorder
- p.Arg611Ter Multiple submitters
- p.Leu610Pro Multiple submitters warburg-cinotti syndrome
Likely pathogenic 10
- p.Arg752Cys Multiple submitters spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
- c.186-1G>A Single submitter
- c.2048+1G>A Single submitter
- c.417+1G>T Single submitter
- c.565+1G>A Single submitter
- p.Arg806Ter Single submitter spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
- p.Met117fs Single submitter
- p.Ser702Phe Single submitter fetal growth restriction
- p.Gln139Ter No assertion criteria spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
- p.Val775Phe No assertion criteria spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
Conflicting classifications of pathogenicity 28
- c.1099+12A>C Single submitter spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
- c.1293+3G>A Single submitter
- c.672-9C>A Single submitter spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
- p.Arg839His Single submitter spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome ⚠
- p.Asp240= Single submitter spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
- p.Asp326= Single submitter spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
- p.Asp81= Single submitter spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
- p.Asp81Glu Single submitter ⚠
- p.Cys503= Single submitter spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
- p.Gly505Ser Single submitter warburg-cinotti syndrome ⚠
- p.His136= Single submitter connective tissue disorder
- p.Ile488Met Single submitter Inborn genetic diseases ⚠
- p.Ile751= Single submitter spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
- p.Leu141= Single submitter spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
- p.Leu827= Single submitter spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
- p.Met441Ile Single submitter connective tissue disorder ⚠
- p.Met690Val Single submitter connective tissue disorder ⚠
- p.Pro492Ser Single submitter
- p.Ser311Asn Single submitter connective tissue disorder ⚠
- p.Ser461Leu Single submitter Inborn genetic diseases ⚠
- p.Ser463= Single submitter spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
- p.Ser677= Single submitter spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
- p.Thr170= Single submitter spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
- p.Thr170Ser Single submitter spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome ⚠
- p.Thr233= Single submitter connective tissue disorder
- p.Thr385Ser Single submitter Inborn genetic diseases ⚠
- p.Tyr183= Single submitter spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
- p.Tyr740Cys Single submitter warburg-cinotti syndrome ⚠
Benign 30
- c.1163-163C>A Multiple submitters
- c.1293+189G>C Multiple submitters
- c.1293+92A>G Multiple submitters
- c.1504+25T>C Multiple submitters warburg-cinotti syndrome
- c.1505-20C>T Multiple submitters
- c.1728+143T>C Multiple submitters
- c.1728+80C>T Multiple submitters
- c.1856+32G>T Multiple submitters warburg-cinotti syndrome
- c.2433+69C>A Multiple submitters
- c.671+96A>C Multiple submitters
- c.83-39C>G Multiple submitters warburg-cinotti syndrome
- p.Leu420= Multiple submitters warburg-cinotti syndrome
- c.1099+160C>T Single submitter
- c.1163-164dup Single submitter
- c.1163-165_1163-164dup Single submitter
- c.1163-167_1163-164dup Single submitter
- c.1163-187dup Single submitter
- c.1163-285G>C Single submitter
- c.1163-329C>T Single submitter
- c.1293+216G>A Single submitter
- c.1729-152A>G Single submitter
- c.185+175T>C Single submitter
- c.2284-223G>A Single submitter
- c.2284-237T>C Single submitter
- c.2434-141T>C Single submitter
- c.2434-59G>A Single submitter lung adenocarcinoma
- c.-27-206A>G Single submitter
- c.*187_*188del Single submitter
- c.*188del Single submitter
- p.Asp854= Single submitter
Benign/Likely benign 9
- c.1504+11T>C Multiple submitters spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
- c.1505-19G>A Multiple submitters squamous cell lung carcinoma
- c.1729-17A>G Multiple submitters
- c.671+20A>T Multiple submitters
- c.83-4C>T Multiple submitters connective tissue disorder
- c.855+18_855+19del Multiple submitters
- p.His520= Multiple submitters
- p.Ile408= Multiple submitters
- p.Tyr148= Multiple submitters
Likely benign 146
- c.1099+17C>T Multiple submitters
- c.1728+165T>G Multiple submitters
- c.185+19A>G Multiple submitters
- c.185+8T>C Multiple submitters
- c.186-98C>T Multiple submitters
- c.186-9C>T Multiple submitters
- c.2048+100G>T Multiple submitters
- c.2049-82G>T Multiple submitters
- c.83-129A>G Multiple submitters
- c.855+154C>T Multiple submitters
- c.-27-146G>A Multiple submitters
- c.-27-18A>G Multiple submitters
- p.Ala542= Multiple submitters
- p.Asp255= Multiple submitters
- p.Gln664= Multiple submitters
- p.Gly853= Multiple submitters
- p.Leu777= Multiple submitters
- p.Pro484= Multiple submitters
- p.Ser504= Multiple submitters
- p.Thr363= Multiple submitters
- c.1099+12A>G Single submitter
- c.1099+184G>A Single submitter
- c.1099+9C>T Single submitter
- c.1100-6T>C Single submitter
- c.1162+13C>T Single submitter
- c.1162+14C>T Single submitter
- c.1163-164_1163-163insAAAAA Single submitter
- c.1163-166_1163-164dup Single submitter
- c.1163-19C>G Single submitter
- c.1293+18G>T Single submitter
- c.1293+9G>A Single submitter
- c.1294-12C>G Single submitter
- c.1294-19C>T Single submitter
- c.1728+18T>C Single submitter
- c.1729-14T>C Single submitter
- c.1729-228T>C Single submitter
- c.1729-6G>A Single submitter
- c.1729-8T>C Single submitter
- c.1856+216C>T Single submitter
- c.1857-19A>G Single submitter
- c.186-269T>G Single submitter
- c.2048+11C>T Single submitter
- c.2048+19C>T Single submitter
- c.2048+6C>G Single submitter
- c.2048+8A>G Single submitter
- c.2048+9G>T Single submitter
- c.2283+10C>T Single submitter
- c.2283+12G>C Single submitter
- c.2283+17T>C Single submitter
- c.2283+17T>G Single submitter
- c.2283+190A>G Single submitter
- c.2284-11T>C Single submitter
- c.2284-15_2284-11del Single submitter
- c.2434-5C>T Single submitter
- c.417+13_417+14del Single submitter
- c.417+13G>C Single submitter
- c.417+147G>T Single submitter
- c.417+14A>C Single submitter
- c.566-7T>C Single submitter
- c.672-118C>T Single submitter
- c.82+9G>A Single submitter
- c.83-15T>A Single submitter
- c.83-17G>C Single submitter
- c.83-235C>T Single submitter
- c.855+12C>T Single submitter
- c.855+13G>A Single submitter
- c.856-13C>T Single submitter
- c.856-195C>G Single submitter
- c.-10A>G Single submitter
- c.-27-193T>C Single submitter
- c.*219del Single submitter
- p.Ala376= Single submitter
- p.Ala606= Single submitter
- p.Arg277= Single submitter
- p.Arg489= Single submitter
- p.Arg560= Single submitter
- p.Arg714= Single submitter
- p.Arg742= Single submitter
- p.Asn261= Single submitter
- p.Asn328= Single submitter
- p.Asn468= Single submitter
- p.Asn636= Single submitter
- p.Asp149= Single submitter
- p.Asp354= Single submitter
- p.Asp647= Single submitter
- p.Asp769= Single submitter
- p.Cys73= Single submitter
- p.Gln365= Single submitter
- p.Gln785= Single submitter
- p.Gln851= Single submitter
- p.Glu312= Single submitter
- p.Glu44= Single submitter
- p.Glu655= Single submitter
- p.Glu670= Single submitter
- p.Gly111= Single submitter
- p.Gly126= Single submitter
- p.Gly466= Single submitter
- p.Gly517= Single submitter
- p.Gly570= Single submitter
- p.Gly802= Single submitter
- p.Gly809= Single submitter
- p.His172= Single submitter
- p.His339= Single submitter
- p.His669= Single submitter
- p.Ile112= Single submitter
- p.Ile29Val Single submitter Inborn genetic diseases
- p.Ile474= Single submitter
- p.Leu405= Single submitter
- p.Leu547= Single submitter
- p.Leu595= Single submitter
- p.Leu63= Single submitter
- p.Leu687= Single submitter
- p.Leu717= Single submitter
- p.Lys627= Single submitter
- p.Lys720= Single submitter
- p.Phe299= Single submitter
- p.Phe588= Single submitter
- p.Phe842= Single submitter
- p.Pro157= Single submitter
- p.Pro205= Single submitter
- p.Pro479= Single submitter
- p.Pro671= Single submitter
- p.Pro840= Single submitter
- p.Ser19= Single submitter
- p.Ser53= Single submitter
- p.Ser667= Single submitter
- p.Ser702= Single submitter
- p.Ser830= Single submitter
- p.Thr102= Single submitter
- p.Thr243= Single submitter
- p.Thr386= Single submitter
- p.Thr533= Single submitter
- p.Thr836= Single submitter
- p.Thr93= Single submitter
- p.Tyr471= Single submitter
- p.Tyr813= Single submitter
- p.Val10= Single submitter
- p.Val169= Single submitter
- p.Val180= Single submitter
- p.Val510= Single submitter
- p.Val540= Single submitter
- p.Val555= Single submitter
- c.*8A>G No assertion criteria DDR2-related disorder
- p.Ile409= No assertion criteria DDR2-related disorder
- p.Phe558= No assertion criteria DDR2-related disorder
- p.Pro559= No assertion criteria DDR2-related disorder
Uncertain significance 222
- c.1728+6T>C Multiple submitters warburg-cinotti syndrome
- c.-27-11G>C Multiple submitters spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
- c.*48A>G Multiple submitters spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
- p.Arg128His Multiple submitters spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome ⚠
- p.Arg165Gln Multiple submitters spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome ⚠
- p.Arg260Trp Multiple submitters spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome ⚠
- p.Arg307Cys Multiple submitters spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome ⚠
- p.Arg399Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg473His Multiple submitters ⚠
- p.Arg668His Multiple submitters spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome ⚠
- p.Arg742Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg742Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg752His Multiple submitters spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome ⚠
- p.Asn146Ser Multiple submitters ⚠
- p.Asn636Asp Multiple submitters ⚠
- p.Asn686Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn721Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asp835Gly Multiple submitters spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome ⚠
- p.Cys503Ser Multiple submitters spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome ⚠
- p.Gln796Leu Multiple submitters spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome ⚠
- p.Glu262Lys Multiple submitters ⚠
- p.Glu799Asp Multiple submitters spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome ⚠
- p.Ile159Thr Multiple submitters spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome ⚠
- p.Ile278Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile474Thr Multiple submitters spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome ⚠
- p.Leu239Pro Multiple submitters spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome ⚠
- p.Leu34Met Multiple submitters spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome ⚠
- p.Leu63Val Multiple submitters ⚠
- p.Leu83Val Multiple submitters warburg-cinotti syndrome ⚠
- p.Leu94Phe Multiple submitters ⚠
- p.Met174Val Multiple submitters Inborn genetic diseases ⚠
- p.Met390Ile Multiple submitters Inborn genetic diseases ⚠
- p.Met657Leu Multiple submitters ⚠
- p.Met754Thr Multiple submitters Inborn genetic diseases ⚠
- p.Pro157Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro381Arg Multiple submitters Inborn genetic diseases ⚠
- p.Pro671Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser173Cys Multiple submitters Inborn genetic diseases ⚠
- p.Ser504Arg Multiple submitters Inborn genetic diseases ⚠
- p.Thr335Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr98Ile Multiple submitters warburg-cinotti syndrome ⚠
- p.Tyr471Asp Multiple submitters Inborn genetic diseases ⚠
- p.Val10Met Multiple submitters ⚠
- p.Val140Leu Multiple submitters connective tissue disorder ⚠
- p.Val327Ile Multiple submitters Inborn genetic diseases ⚠
- c.1162+1G>A Single submitter
- c.1293+5G>T Single submitter
- c.1294-109C>T Single submitter lung adenocarcinoma
- c.1728+293A>G Single submitter lung adenocarcinoma
- c.2434-46TC[9] Single submitter squamous cell lung carcinoma
- c.418-12C>T Single submitter spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
- c.82+6A>G Single submitter
- c.-106G>T Single submitter spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
- c.-219T>C Single submitter spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
- c.-221C>T Single submitter spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
- c.-247G>A Single submitter spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
- c.-258G>A Single submitter spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
- c.-318C>T Single submitter spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
- c.*152C>A Single submitter spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
- c.*16G>A Single submitter spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
- c.*42C>A Single submitter spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
- c.*77C>G Single submitter spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
- p.Ala196Val Single submitter Inborn genetic diseases ⚠
- p.Ala220Val Single submitter ⚠
- p.Ala293Pro Single submitter Inborn genetic diseases ⚠
- p.Ala317Asp Single submitter ⚠
- p.Ala368Thr Single submitter ⚠
- p.Ala727Gly Single submitter ⚠
- p.Ala767Pro Single submitter ⚠
- p.Ala818= Single submitter connective tissue disorder
- p.Arg105His Single submitter ⚠
- p.Arg105Ser Single submitter spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome ⚠
- p.Arg133Gln Single submitter ⚠
- p.Arg133Trp Single submitter ⚠
- p.Arg135Cys Single submitter Inborn genetic diseases ⚠
- p.Arg165Trp Single submitter spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome ⚠
- p.Arg260Gln Single submitter ⚠
- p.Arg277Cys Single submitter ⚠
- p.Arg277His Single submitter Inborn genetic diseases ⚠
- p.Arg307His Single submitter ⚠
- p.Arg31Cys Single submitter ⚠
- p.Arg473Cys Single submitter ⚠
- p.Arg478Cys Single submitter ⚠
- p.Arg478His Single submitter ⚠
- p.Arg489Gln Single submitter ⚠
- p.Arg611Gln Single submitter ⚠
- p.Arg631Gln Single submitter ⚠
- p.Arg631Trp Single submitter ⚠
- p.Arg668Cys Single submitter ⚠
- p.Arg680Cys Single submitter ⚠
- p.Arg680Gly Single submitter Inborn genetic diseases ⚠
- p.Arg680Leu Single submitter ⚠
- p.Arg746Gln Single submitter spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome ⚠
- p.Arg752Ser Single submitter Inborn genetic diseases ⚠
- p.Arg806Gln Single submitter
- p.Arg839_Pro840insArg Single submitter spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
- p.Arg839Cys Single submitter ⚠
- p.Asn144Ser Single submitter Inborn genetic diseases
- p.Asn146Lys Single submitter ⚠
- p.Asn373del Single submitter
- p.Asn457Lys Single submitter ⚠
- p.Asn600Ser Single submitter Inborn genetic diseases ⚠
- p.Asn721Lys Single submitter Inborn genetic diseases ⚠
- p.Asp125Val Single submitter ⚠
- p.Asp171Gly Single submitter ⚠
- p.Asp241Asn Single submitter Inborn genetic diseases ⚠
- p.Asp472Asn Single submitter ⚠
- p.Asp64Glu Single submitter Inborn genetic diseases ⚠
- p.Asp64Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys404Tyr Single submitter ⚠
- p.Gln139= Single submitter
- p.Gln40His Single submitter ⚠
- p.Gln808Arg Single submitter Inborn genetic diseases ⚠
- p.Gln808Glu Single submitter Inborn genetic diseases ⚠
- p.Gln808His Single submitter ⚠
- p.Gln851Ter Single submitter
- p.Glu262Asp Single submitter ⚠
- p.Glu430Lys Single submitter ⚠
- p.Glu499Asp Single submitter ⚠
- p.Glu670Lys Single submitter ⚠
- p.Glu855Lys Single submitter ⚠
- p.Gly104Arg Single submitter ⚠
- p.Gly108Glu Single submitter Inborn genetic diseases ⚠
- p.Gly126Asp Single submitter spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome ⚠
- p.Gly143Glu Single submitter ⚠
- p.Gly235Val Single submitter ⚠
- p.Gly253Ser Single submitter ⚠
- p.Gly258Ser Single submitter ⚠
- p.Gly35Cys Single submitter spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome ⚠
- p.Gly35Ser Single submitter ⚠
- p.Gly39Asp Single submitter Inborn genetic diseases ⚠
- p.Gly502Arg Single submitter ⚠
- p.Gly575Arg Single submitter ⚠
- p.Gly730Glu Single submitter ⚠
- p.Gly738Ser Single submitter Inborn genetic diseases ⚠
- p.His669Gln Single submitter Inborn genetic diseases ⚠
- p.His669Tyr Single submitter Inborn genetic diseases ⚠
- p.His92Tyr Single submitter Inborn genetic diseases ⚠
- p.Ile278Asn Single submitter spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome ⚠
- p.Ile298Val Single submitter ⚠
- p.Ile29Leu Single submitter ⚠
- p.Ile415Val Single submitter ⚠
- p.Ile474Asn Single submitter Inborn genetic diseases ⚠
- p.Ile724Val Single submitter ⚠
- p.Ile726Thr Single submitter ⚠
- p.Ile759Phe Single submitter ⚠
- p.Leu322Phe Single submitter Inborn genetic diseases ⚠
- p.Leu324Pro Single submitter ⚠
- p.Leu338Phe Single submitter ⚠
- p.Leu650Phe Single submitter Inborn genetic diseases ⚠
- p.Leu687Pro Single submitter spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome ⚠
- p.Leu704Val Single submitter
- p.Lys119= Single submitter
- p.Lys153Asn Single submitter ⚠
- p.Lys294Asn Single submitter ⚠
- p.Lys347Glu Single submitter ⚠
- p.Lys551Glu Single submitter ⚠
- p.Lys566Arg Single submitter ⚠
- p.Lys566Gln Single submitter Inborn genetic diseases ⚠
- p.Lys566Thr Single submitter Inborn genetic diseases ⚠
- p.Lys725Asn Single submitter ⚠
- p.Met1Arg Single submitter
- p.Met272Thr Single submitter ⚠
- p.Met284Leu Single submitter
- p.Met382Val Single submitter ⚠
- p.Met453Thr Single submitter ⚠
- p.Met585Val Single submitter Inborn genetic diseases ⚠
- p.Met754Val Single submitter ⚠
- p.Phe306Leu Single submitter Inborn genetic diseases ⚠
- p.Phe494Ile Single submitter ⚠
- p.Pro147Leu Single submitter
- p.Pro27Ser Single submitter
- p.Pro321Arg Single submitter Inborn genetic diseases ⚠
- p.Pro384Ser Single submitter Inborn genetic diseases ⚠
- p.Pro479Ser Single submitter Inborn genetic diseases ⚠
- p.Pro817Arg Single submitter ⚠
- p.Ser193Tyr Single submitter ⚠
- p.Ser263Asn Single submitter ⚠
- p.Ser308Pro Single submitter Inborn genetic diseases ⚠
- p.Ser319Phe Single submitter ⚠
- p.Ser366Leu Single submitter Inborn genetic diseases ⚠
- p.Ser37Thr Single submitter ⚠
- p.Ser449Gly Single submitter Inborn genetic diseases ⚠
- p.Ser451Phe Single submitter ⚠
- p.Ser452Thr Single submitter ⚠
- p.Ser459Phe Single submitter ⚠
- p.Ser469Leu Single submitter ⚠
- p.Ser485Thr Single submitter Inborn genetic diseases ⚠
- p.Ser598Asn Single submitter warburg-cinotti syndrome ⚠
- p.Ser737Arg Single submitter ⚠
- p.Ser790Thr Single submitter Inborn genetic diseases ⚠
- p.Ser790Tyr Single submitter Inborn genetic diseases
- p.Thr127Ile Single submitter ⚠
- p.Thr226Arg Single submitter ⚠
- p.Thr282Pro Single submitter ⚠
- p.Thr283Ala Single submitter ⚠
- p.Thr335= Single submitter spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
- p.Thr379Ala Single submitter Inborn genetic diseases ⚠
- p.Thr379Asn Single submitter Inborn genetic diseases ⚠
- p.Thr681Ile Single submitter ⚠
- p.Thr685Ile Single submitter ⚠
- p.Thr723Ile Single submitter Inborn genetic diseases ⚠
- p.Thr723Lys Single submitter Inborn genetic diseases ⚠
- p.Thr782Ala Single submitter Inborn genetic diseases ⚠
- p.Trp72Leu Single submitter spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome ⚠
- p.Tyr217Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr32His Single submitter ⚠
- p.Tyr471Cys Single submitter
- p.Val100Leu Single submitter ⚠
- p.Val236Met Single submitter Inborn genetic diseases ⚠
- p.Val250Met Single submitter ⚠
- p.Val257Leu Single submitter ⚠
- p.Val506Ile Single submitter ⚠
- p.Val510Ala Single submitter ⚠
- p.Val543Ile Single submitter ⚠
- p.Val555Ala Single submitter ⚠
- p.Val707Ala Single submitter ⚠
- p.Val824Ala Single submitter ⚠
- c.1099+20T>C No assertion criteria squamous cell lung carcinoma
- c.2434-46TC[6] No assertion criteria squamous cell lung carcinoma
- c.2434-46TC[7] No assertion criteria squamous cell lung carcinoma
- p.Ser460Leu No assertion criteria DDR2-related disorder ⚠