Total 73 pathogenic variants reported for Autosomal dominant Robinow syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_003392.7(WNT5A):c.544T>C (p.Cys182Arg) SNV
Germline
Chr3:55474477 Likely pathogenic Autosomal dominant Robinow syndrome 1 Criteria Provided
Single Submitter
CA259668 rs_387906663

2 SubmittersRCV000022695

NM_003392.7(WNT5A):c.248G>C (p.Cys83Ser) SNV
Germline
Chr3:55479457 Pathogenic Autosomal dominant Robinow syndrome 1 No Assertion Criteria Provided
CA342716 rs_786200925

2 SubmittersRCV000022696

NM_003392.7(WNT5A):c.487G>C (p.Gly163Arg) SNV
Germline
Chr3:55474534 Conflicting classifications of pathogenicity Autosomal dominant Robinow syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA272818 rs_587784562

3 SubmittersRCV000147988RCV001850013

NM_003392.7(WNT5A):c.391+11A>G SNV
Germline
Chr3:55479303 Conflicting classifications of pathogenicity Autosomal dominant Robinow syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA272817 rs_6790979

3 SubmittersRCV000147986RCV001557050

NM_003392.7(WNT5A):c.141-8C>G SNV
Germline
Chr3:55479572 Conflicting classifications of pathogenicity Autosomal dominant Robinow syndrome 1
Condition: not provided
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA272814 rs_188798140

3 SubmittersRCV000147983RCV000924585RCV005888283

NM_003392.7(WNT5A):c.141-9C>T SNV
Germline
Chr3:55479573 Conflicting classifications of pathogenicity Autosomal dominant Robinow syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA272816 rs_181894008

2 SubmittersRCV000147985RCV005055614

NM_003392.7(WNT5A):c.141-9C>G SNV
Germline
Chr3:55479573 Conflicting classifications of pathogenicity Autosomal dominant Robinow syndrome 1
Condition: not provided
WNT5A-related disorder
Criteria Provided
Conflicting Classifications
CA272815 rs_181894008

3 SubmittersRCV000147984RCV000897286RCV003965115

NM_003392.7(WNT5A):c.140+14A>G SNV
Germline
Chr3:55480771 Conflicting classifications of pathogenicity Autosomal dominant Robinow syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA272813 rs_139616809

2 SubmittersRCV000147982RCV002055943

NM_003392.7(WNT5A):c.257A>G (p.Tyr86Cys) SNV
Germline
Chr3:55479448 Pathogenic Autosomal dominant Robinow syndrome 1
Condition: not provided
Criteria Provided
Single Submitter
CA346838 rs_786204836

3 SubmittersRCV000169740RCV005089723

NM_004423.4(DVL3):c.1715-2A>G SNV
Germline
Chr3:184170317 Pathogenic Autosomal dominant Robinow syndrome 1
Autosomal dominant Robinow syndrome 3
Autosomal dominant Robinow syndrome 2
Criteria Provided
Single Submitter
CA356449 rs_869025216

3 SubmittersRCV000208665RCV000210487RCV003126594

NM_004423.4(DVL3):c.1715-1G>A SNV
Germline
Chr3:184170318 Pathogenic/Likely pathogenic Autosomal dominant Robinow syndrome 1
Autosomal dominant Robinow syndrome 3
Autosomal dominant Robinow syndrome 2
Criteria Provided
Multiple Submitters
No Conflicts
CA356447 rs_869025217

4 SubmittersRCV000208714RCV000210483RCV003126595

NM_001377.3(DYNC2H1):c.5983G>A (p.Ala1995Thr) SNV
Germline
Chr11:103177664 Pathogenic/Likely pathogenic Condition: not provided
Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
DYNC2H1-related disorder
Autosomal dominant Robinow syndrome 2
Criteria Provided
Multiple Submitters
No Conflicts
CA6253872 rs_552436294

9 SubmittersRCV000483501RCV000515935RCV001291051RCV003401520RCV005863162

NM_001330311.2(DVL1):c.1777C>T (p.Arg593Trp) SNV
Germline
Chr1:1336453 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant Robinow syndrome 2
Criteria Provided
Conflicting Classifications
CA519835 rs_372681220

3 SubmittersRCV000514751RCV005863179

NM_003392.7(WNT5A):c.479C>G (p.Ser160Cys) SNV
Unknown
Chr3:55474542 Likely pathogenic Autosomal dominant Robinow syndrome 1 Criteria Provided
Single Submitter
CA353275502 rs_1553677971

1 SubmittersRCV000577882

NM_001466.4(FZD2):c.1130G>A (p.Trp377Ter) SNV
Germline
Chr17:44558818 Conflicting classifications of pathogenicity Autosomal dominant Robinow syndrome 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA399797946 rs_1555657045

2 SubmittersRCV000577910RCV002529036

NM_001466.4(FZD2):c.1300G>A (p.Gly434Ser) SNV
Germline
Chr17:44558988 Likely pathogenic Autosomal dominant Robinow syndrome 2
Autosomal dominant Robinow syndrome 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA399798728 rs_1223920489

2 SubmittersRCV000577904RCV001353073RCV005416372

NM_001466.4(FZD2):c.1301G>T (p.Gly434Val) SNV
Germline
Chr17:44558989 Pathogenic/Likely pathogenic Autosomal dominant Robinow syndrome 3
Autosomal dominant omodysplasia
Criteria Provided
Multiple Submitters
No Conflicts
CA399798732 rs_1555657073

2 SubmittersRCV000577887RCV004698842

NM_001466.4(FZD2):c.1644G>A (p.Trp548Ter) SNV
Germline
Chr17:44559332 Pathogenic Autosomal dominant omodysplasia
Autosomal dominant Robinow syndrome 2
Autosomal dominant Robinow syndrome 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA399800526 rs_1568105666

5 SubmittersRCV000754771RCV000989930RCV001353074RCV003558553

NM_004423.4(DVL3):c.1715-2A>C SNV
Unknown
Chr3:184170317 Pathogenic Autosomal dominant Robinow syndrome 1 Criteria Provided
Single Submitter
CA355415460 rs_869025216

1 SubmittersRCV000856748

NM_001330311.2(DVL1):c.433C>T (p.Arg145Trp) SNV
Germline
Chr1:1342086 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant Robinow syndrome 1
Inborn genetic diseases
Familial pancreatic carcinoma
Ovarian serous cystadenocarcinoma
Criteria Provided
Conflicting Classifications
CA520688 rs_142925511

4 SubmittersRCV000892759RCV001198171RCV002539401RCV005906147RCV005906148

NM_004423.4(DVL3):c.1715-1G>C SNV
Germline
Chr3:184170318 Likely pathogenic Autosomal dominant Robinow syndrome 3 No Assertion Criteria Provided
CA355415462 rs_869025217

1 SubmittersRCV000985017

NM_001822.7(CHN1):c.1106T>G (p.Ile369Ser) SNV
Germline
Chr2:174801809 Pathogenic Autosomal dominant Robinow syndrome 2 No Assertion Criteria Provided
CA349343753 rs_1684730153

1 SubmittersRCV001290089

NM_001330311.2(DVL1):c.1715-1G>A SNV
Unknown
Chr1:1336516 Likely pathogenic Autosomal dominant Robinow syndrome 2 No Assertion Criteria Provided
CA337857296 rs_2100704859

1 SubmittersRCV001353069

NM_003392.7(WNT5A):c.248G>A (p.Cys83Tyr) SNV
Germline
Chr3:55479457 Likely pathogenic Autosomal dominant Robinow syndrome 1
Condition: not provided
Criteria Provided
Single Submitter
CA353267394 rs_786200925

2 SubmittersRCV001353076RCV002462889

NM_003392.7(WNT5A):c.247T>G (p.Cys83Gly) SNV
Germline
Chr3:55479458 Likely pathogenic Autosomal dominant Robinow syndrome 1 No Assertion Criteria Provided
CA353267397 rs_2106946273

1 SubmittersRCV001353077

NM_001330311.2(DVL1):c.1454A>G (p.Asn485Ser) SNV
Germline
Chr1:1338322 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant Robinow syndrome 2
Autosomal dominant Robinow syndrome 1
Criteria Provided
Conflicting Classifications
CA16753451 rs_780909370

2 SubmittersRCV001326669RCV002499644

NM_001330311.2(DVL1):c.665G>A (p.Arg222Gln) SNV
Germline
Chr1:1340444 Conflicting classifications of pathogenicity Autosomal dominant Robinow syndrome 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA520548 rs_143283367

2 SubmittersRCV001332450RCV001859294

NM_003392.7(WNT5A):c.206G>T (p.Cys69Phe) SNV
Germline
Chr3:55479499 Pathogenic Autosomal dominant Robinow syndrome 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA353267487 rs_786204837

2 SubmittersRCV001376107RCV005094510

NM_004423.4(DVL3):c.1473C>G (p.Tyr491Ter) SNV
Germline
Chr3:184168040 Likely pathogenic Autosomal dominant Robinow syndrome 3 Criteria Provided
Single Submitter
CA355412717 rs_2109022762

1 SubmittersRCV001809133

NM_004423.4(DVL3):c.683G>A (p.Arg228Gln) SNV
Germline
Chr3:184165196 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Autosomal dominant Robinow syndrome 3
Criteria Provided
Conflicting Classifications
CA2727193 rs_200798545

3 SubmittersRCV001982716RCV004043710RCV005361856

NM_001330311.2(DVL1):c.1398G>T (p.Glu466Asp) SNV
Germline
Chr1:1338378 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant Robinow syndrome 2
Criteria Provided
Conflicting Classifications
CA337862561 rs_2100718483

2 SubmittersRCV001926947RCV002471188

NM_003392.7(WNT5A):c.937G>A (p.Glu313Lys) SNV
Germline
Chr3:55470298 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant Robinow syndrome 1
Criteria Provided
Conflicting Classifications
CA2458933 rs_369701725

2 SubmittersRCV002006539RCV002486545

NM_003392.7(WNT5A):c.20T>C (p.Ile7Thr) SNV
Germline
Chr3:55480905 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant Robinow syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2459134 rs_554762368

4 SubmittersRCV002206857RCV003389348RCV002562288

NM_001330311.2(DVL1):c.2005G>T (p.Val669Phe) SNV
Germline
Chr1:1336225 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant Robinow syndrome 2
DVL1-related disorder
Criteria Provided
Conflicting Classifications
CA519747 rs_374440563

4 SubmittersRCV002204828RCV003146509RCV003968788

NM_001330311.2(DVL1):c.363-1G>C SNV
Germline
Chr1:1342157 Likely pathogenic Autosomal dominant Robinow syndrome 2 Criteria Provided
Single Submitter
CA337875668 rs_1643857128

1 SubmittersRCV002289257

NM_004423.4(DVL3):c.466A>T (p.Thr156Ser) SNV
Germline
Chr3:184164798 Conflicting classifications of pathogenicity Inborn genetic diseases
Autosomal dominant Robinow syndrome 3
Criteria Provided
Conflicting Classifications
CA355405511 rs_201932377

2 SubmittersRCV003204889RCV004725681

NM_001330311.2(DVL1):c.1855C>T (p.Arg619Cys) SNV
Germline
Chr1:1336375 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Autosomal dominant Robinow syndrome 2
Criteria Provided
Conflicting Classifications
CA519803 rs_142476987

3 SubmittersRCV003699925RCV005325775RCV005637012

NM_001330311.2(DVL1):c.584A>G (p.Asp195Gly) SNV
Germline
Chr1:1341688 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant Robinow syndrome 2
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA520611 rs_758508750

3 SubmittersRCV003729947RCV005356522RCV005824611

NM_003392.7(WNT5A):c.1080C>T (p.His360=) SNV
Germline
Chr3:55470155 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant Robinow syndrome 1
Criteria Provided
Conflicting Classifications
CA2458912 rs_755916316

2 SubmittersRCV003732238RCV005037015

NM_003392.7(WNT5A):c.247T>C (p.Cys83Arg) SNV
Germline
Chr3:55479458 Likely pathogenic Autosomal dominant Robinow syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV005253528