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