Total 63 pathogenic variants reported for Desbuquois dysplasia 1 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001159773.2(CANT1):c.898C>T (p.Arg300Cys) SNV
Germline		 Chr17:78993858 Pathogenic/Likely pathogenic Desbuquois dysplasia 1
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA114109 rs_267606701

3 SubmittersRCV000000303RCV000623362RCV002512601
NM_001159773.2(CANT1):c.899G>A (p.Arg300His) SNV
Germline		 Chr17:78993857 Likely pathogenic Desbuquois dysplasia 1 Criteria Provided
Single Submitter
 CA114110 rs_267606699

2 SubmittersRCV000000304
NM_001159773.2(CANT1):c.374G>A (p.Trp125Ter) SNV
Germline		 Chr17:78997249 Conflicting classifications of pathogenicity Desbuquois dysplasia 1
Desbuquois dysplasia 1
Epiphyseal dysplasia, multiple, 7		 Criteria Provided
Conflicting Classifications
 CA114112 rs_267606702

3 SubmittersRCV000000306RCV005024977
NM_001159773.2(CANT1):c.896C>T (p.Pro299Leu) SNV
Germline		 Chr17:78993860 Likely pathogenic Desbuquois dysplasia 1
CANT1-related disorder
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA114114 rs_267606700

6 SubmittersRCV000000307RCV003398396RCV005638390
NM_001159773.2(CANT1):c.671T>C (p.Leu224Pro) SNV
Germline		 Chr17:78995182 Likely pathogenic Desbuquois dysplasia 1
Epiphyseal dysplasia, multiple, 7
Desbuquois dysplasia 1		 Criteria Provided
Single Submitter
 CA129622 rs_150181226

2 SubmittersRCV000024008RCV005016291
NM_001159773.2(CANT1):c.375G>C (p.Trp125Cys) SNV
Germline		 Chr17:78997248 Pathogenic Desbuquois dysplasia 1 No Assertion Criteria Provided
 CA129623 rs_587776898

1 SubmittersRCV000024009
NM_001159773.2(CANT1):c.676G>A (p.Val226Met) SNV
Germline		 Chr17:78995177 Pathogenic Desbuquois dysplasia 1
Epiphyseal dysplasia, multiple, 7
Condition: not provided
Epiphyseal dysplasia, multiple, 7
Desbuquois dysplasia 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA129624 rs_377546036

6 SubmittersRCV000024010RCV000509573RCV001380267RCV005016292
NM_001159773.2(CANT1):c.1079C>A (p.Ala360Asp) SNV
Germline		 Chr17:78993677 Pathogenic Desbuquois dysplasia 1 No Assertion Criteria Provided
 CA129625 rs_387907081

1 SubmittersRCV000024011
NM_001159773.2(CANT1):c.-147+1G>A SNV
Germline		 Chr17:79009663 Pathogenic Desbuquois dysplasia 1 No Assertion Criteria Provided
 CA130841 rs_587776951

1 SubmittersRCV000034325
NM_022166.4(XYLT1):c.439C>T (p.Arg147Ter) SNV
Germline		 Chr16:17259462 Pathogenic Desbuquois dysplasia 2
Desbuquois dysplasia 1		 Criteria Provided
Single Submitter
 CA151425 rs_587777368

2 SubmittersRCV000115035RCV003495110
NM_001159773.2(CANT1):c.836-9G>A SNV
Germline		 Chr17:78993929 Pathogenic/Likely pathogenic Condition: not provided
Desbuquois dysplasia 1
Epiphyseal dysplasia, multiple, 7
Desbuquois dysplasia 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA202841 rs_538543007

4 SubmittersRCV000178383RCV001775089RCV005016523
NM_001159773.2(CANT1):c.56G>A (p.Arg19Gln) SNV
Germline		 Chr17:78997567 Conflicting classifications of pathogenicity Desbuquois dysplasia 1
Condition: not provided
Malignant tumor of esophagus
Cervical cancer		 Criteria Provided
Conflicting Classifications
 CA8808832 rs_144060377

6 SubmittersRCV000372057RCV000724946RCV005895463RCV005895464
NM_001159773.2(CANT1):c.556G>A (p.Val186Ile) SNV
Germline		 Chr17:78997067 Conflicting classifications of pathogenicity Desbuquois dysplasia 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8808709 rs_199516699

2 SubmittersRCV000308295RCV002056640
NM_001159773.2(CANT1):c.433G>T (p.Val145Leu) SNV
Germline		 Chr17:78997190 Conflicting classifications of pathogenicity Desbuquois dysplasia 1
not specified
Condition: not provided
CANT1-related disorder		 Criteria Provided
Conflicting Classifications
 CA8808732 rs_140112462

5 SubmittersRCV000365329RCV000729124RCV001516452RCV003957665
NM_022166.4(XYLT1):c.421C>T (p.Arg141Trp) SNV
Germline		 Chr16:17259480 Conflicting classifications of pathogenicity not specified
Desbuquois dysplasia 1
Inborn genetic diseases
XYLT1-related disorder		 Criteria Provided
Conflicting Classifications
 CA7928199 rs_74993523

4 SubmittersRCV000413146RCV000888814RCV002523958RCV003932534
NM_001159773.2(CANT1):c.1172G>A (p.Gly391Glu) SNV
Germline		 Chr17:78993584 Conflicting classifications of pathogenicity Condition: not provided
Desbuquois dysplasia 1
CANT1-related disorder		 Criteria Provided
Conflicting Classifications
 CA8808495 rs_34082669

6 SubmittersRCV000426567RCV001124606RCV003922730
NM_001159773.2(CANT1):c.734C>T (p.Pro245Leu) SNV
Germline		 Chr17:78995119 Pathogenic/Likely pathogenic Condition: not provided
Desbuquois dysplasia 1
Epiphyseal dysplasia, multiple, 7
Desbuquois dysplasia 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8808625 rs_761853610

4 SubmittersRCV000520404RCV002250651RCV005027616
NM_022166.4(XYLT1):c.1765-3C>T SNV
Germline		 Chr16:17134738 Conflicting classifications of pathogenicity Condition: not provided
Desbuquois dysplasia 1		 Criteria Provided
Conflicting Classifications
 CA7927770 rs_192023037

2 SubmittersRCV000597028RCV001499747
NM_001159773.2(CANT1):c.1112C>T (p.Ala371Val) SNV
Germline		 Chr17:78993644 Conflicting classifications of pathogenicity Epiphyseal dysplasia, multiple, 7
Desbuquois dysplasia 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8808516 rs_372631124

2 SubmittersRCV000662007RCV000662006RCV001855396
NM_022166.4(XYLT1):c.154G>A (p.Gly52Ser) SNV
Germline		 Chr16:17470643 Conflicting classifications of pathogenicity Desbuquois dysplasia 1
Condition: not provided
XYLT1-related disorder		 Criteria Provided
Conflicting Classifications
 CA7928287 rs_766521030

3 SubmittersRCV000699749RCV001771984RCV003907952
NM_001159773.2(CANT1):c.194C>T (p.Ala65Val) SNV
Germline		 Chr17:78997429 Conflicting classifications of pathogenicity Condition: not provided
Desbuquois dysplasia 1
CANT1-related disorder		 Criteria Provided
Conflicting Classifications
 CA8808792 rs_200811852

4 SubmittersRCV000970329RCV001123611RCV003918433
NM_001159773.2(CANT1):c.969C>T (p.Ala323=) SNV
Germline		 Chr17:78993787 Conflicting classifications of pathogenicity Condition: not provided
Desbuquois dysplasia 1		 Criteria Provided
Conflicting Classifications
 CA8808551 rs_751735028

2 SubmittersRCV000881262RCV001125603
NM_001159773.2(CANT1):c.735G>A (p.Pro245=) SNV
Germline		 Chr17:78995118 Conflicting classifications of pathogenicity Condition: not provided
Desbuquois dysplasia 1		 Criteria Provided
Conflicting Classifications
 CA8808624 rs_138754148

2 SubmittersRCV000909623RCV001127699
NM_001159773.2(CANT1):c.147C>T (p.Phe49=) SNV
Germline		 Chr17:78997476 Conflicting classifications of pathogenicity Condition: not provided
Desbuquois dysplasia 1		 Criteria Provided
Conflicting Classifications
 CA8808810 rs_371500993

2 SubmittersRCV000924641RCV001124685
NM_001159773.2(CANT1):c.819C>T (p.Ala273=) SNV
Germline		 Chr17:78995034 Conflicting classifications of pathogenicity Condition: not provided
Desbuquois dysplasia 1		 Criteria Provided
Conflicting Classifications
 CA8808604 rs_571979064

2 SubmittersRCV000933910RCV001125606
NM_001159773.2(CANT1):c.643G>A (p.Glu215Lys) SNV
Germline		 Chr17:78995210 Pathogenic/Likely pathogenic Condition: not provided
Desbuquois dysplasia 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8808644 rs_773215035

4 SubmittersRCV000996613RCV001260984
NM_022166.4(XYLT1):c.707C>T (p.Pro236Leu) SNV
Germline		 Chr16:17259194 Conflicting classifications of pathogenicity Desbuquois dysplasia 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA7928129 rs_140976278

2 SubmittersRCV001066502RCV005782085
NM_001159773.2(CANT1):c.948C>T (p.Gly316=) SNV
Germline		 Chr17:78993808 Conflicting classifications of pathogenicity Desbuquois dysplasia 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8808556 rs_556238561

2 SubmittersRCV001125604RCV003769209
NM_001159773.2(CANT1):c.702G>A (p.Thr234=) SNV
Germline		 Chr17:78995151 Conflicting classifications of pathogenicity Desbuquois dysplasia 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA294811095 rs_1023756732

2 SubmittersRCV001127700RCV003769223
NM_001159773.2(CANT1):c.570C>T (p.Ile190=) SNV
Germline		 Chr17:78997053 Conflicting classifications of pathogenicity Desbuquois dysplasia 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8808706 rs_376733332

2 SubmittersRCV001127701RCV001412014
NM_001159773.2(CANT1):c.552G>A (p.Thr184=) SNV
Germline		 Chr17:78997071 Conflicting classifications of pathogenicity Desbuquois dysplasia 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8808710 rs_762438787

2 SubmittersRCV001127702RCV001856663
NM_001159773.2(CANT1):c.513T>G (p.Ile171Met) SNV
Germline		 Chr17:78997110 Conflicting classifications of pathogenicity Desbuquois dysplasia 1
Condition: not provided
Desbuquois dysplasia 1
Epiphyseal dysplasia, multiple, 7		 Criteria Provided
Conflicting Classifications
 CA8808723 rs_201181440

3 SubmittersRCV001127703RCV002556790RCV002497541
NM_001159773.2(CANT1):c.246G>A (p.Ala82=) SNV
Germline		 Chr17:78997377 Conflicting classifications of pathogenicity Desbuquois dysplasia 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8808782 rs_567995164

2 SubmittersRCV001123609RCV003718344
NM_001159773.2(CANT1):c.54C>T (p.Leu18=) SNV
Germline		 Chr17:78997569 Conflicting classifications of pathogenicity Desbuquois dysplasia 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA502398218 rs_2071085962

2 SubmittersRCV001124687RCV003769205
NM_001159773.2(CANT1):c.739T>C (p.Trp247Arg) SNV
Germline		 Chr17:78995114 Likely pathogenic Joint dislocation
Short stature
Desbuquois dysplasia 1
Epiphyseal dysplasia, multiple, 7		 Criteria Provided
Multiple Submitters
No Conflicts
 CA401307176 rs_1361897950

2 SubmittersRCV001268952RCV005021488
NM_022166.4(XYLT1):c.1321C>T (p.Arg441Ter) SNV
Germline		 Chr16:17158878 Pathogenic Desbuquois dysplasia 1 Criteria Provided
Single Submitter
 CA394879545 rs_1164720535

1 SubmittersRCV001231569
NM_022166.4(XYLT1):c.59C>T (p.Ala20Val) SNV
Germline		 Chr16:17470738 Conflicting classifications of pathogenicity Desbuquois dysplasia 1
XYLT1-related disorder
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA7928294 rs_568899945

3 SubmittersRCV001368508RCV003953692RCV005772172
NM_022166.4(XYLT1):c.2561A>C (p.Glu854Ala) SNV
Germline		 Chr16:17109014 Conflicting classifications of pathogenicity Desbuquois dysplasia 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA7927538 rs_199588257

2 SubmittersRCV001446159RCV004720914
NM_022166.4(XYLT1):c.425C>T (p.Pro142Leu) SNV
Germline		 Chr16:17259476 Conflicting classifications of pathogenicity Desbuquois dysplasia 1
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA7928197 rs_143159780

3 SubmittersRCV001898529RCV004809693RCV004681298
NM_022166.4(XYLT1):c.2026C>T (p.Arg676Ter) SNV
Germline		 Chr16:17134474 Pathogenic Desbuquois dysplasia 1 Criteria Provided
Single Submitter
 CA395219308 rs_1320125389

1 SubmittersRCV003064329
NM_022166.4(XYLT1):c.2462G>A (p.Trp821Ter) SNV
Germline		 Chr16:17117741 Pathogenic Desbuquois dysplasia 1 Criteria Provided
Single Submitter
 CA395218342 rs_2506152416

1 SubmittersRCV002741580
NM_022166.4(XYLT1):c.2768G>A (p.Gly923Asp) SNV
Germline		 Chr16:17108807 Conflicting classifications of pathogenicity Desbuquois dysplasia 1
Desbuquois dysplasia 2
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA7927482 rs_137935194

3 SubmittersRCV002922787RCV003138395RCV004067013
NM_022166.4(XYLT1):c.1510G>T (p.Glu504Ter) SNV
Germline		 Chr16:17141230 Pathogenic Desbuquois dysplasia 1 Criteria Provided
Single Submitter
 CA394876773 rs_2506186149

1 SubmittersRCV003598386
NM_001159773.2(CANT1):c.836G>A (p.Gly279Asp) SNV
Germline		 Chr17:78993920 Likely pathogenic Desbuquois dysplasia 1 Criteria Provided
Single Submitter
 CA401306960 rs_1233347902

1 SubmittersRCV003991994
NM_001159773.2(CANT1):c.340G>A (p.Asp114Asn) SNV
Germline		 Chr17:78997283 Conflicting classifications of pathogenicity not specified
Desbuquois dysplasia 1
Epiphyseal dysplasia, multiple, 7		 Criteria Provided
Conflicting Classifications
 rs_2509812786

2 SubmittersRCV004586064RCV005015197
NM_001159773.2(CANT1):c.467C>T (p.Ser156Phe) SNV
Germline		 Chr17:78997156 Pathogenic Desbuquois dysplasia 1 Criteria Provided
Single Submitter

1 SubmittersRCV004766713
NM_022166.4(XYLT1):c.402+1G>T SNV
Germline		 Chr16:17358011 Likely pathogenic Desbuquois dysplasia 1 Criteria Provided
Single Submitter

1 SubmittersRCV006480605