Total 74 pathogenic variants reported for Woodhouse-Sakati syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_025000.4(DCAF17):c.1422+5G>T SNV
Germline		 Chr2:171480198 Pathogenic Woodhouse-Sakati syndrome No Assertion Criteria Provided
 CA891842632 rs_1314048356

1 SubmittersRCV000000562
NM_025000.4(DCAF17):c.1091+6T>G SNV
Germline		 Chr2:171473981 Pathogenic Woodhouse-Sakati syndrome No Assertion Criteria Provided
 CA891842631 rs_1559289651

1 SubmittersRCV000000563
NM_025000.4(DCAF17):c.387G>A (p.Trp129Ter) SNV
Germline		 Chr2:171448746 Pathogenic Woodhouse-Sakati syndrome Criteria Provided
Multiple Submitters
No Conflicts
 CA349276691 rs_1559264135

3 SubmittersRCV000024286
NM_025000.4(DCAF17):c.906G>A (p.Trp302Ter) SNV
Germline		 Chr2:171468955 Pathogenic Woodhouse-Sakati syndrome Criteria Provided
Multiple Submitters
No Conflicts
 CA1964824 rs_761229686

3 SubmittersRCV000024287
NM_025000.4(DCAF17):c.341C>A (p.Ser114Ter) SNV
Germline		 Chr2:171448700 Pathogenic Woodhouse-Sakati syndrome No Assertion Criteria Provided
 CA60633923 rs_760978794

1 SubmittersRCV000024288
NM_025000.4(DCAF17):c.1183-6T>C SNV
Germline		 Chr2:171477981 Conflicting classifications of pathogenicity Condition: not provided
Woodhouse-Sakati syndrome		 Criteria Provided
Conflicting Classifications
 CA231069 rs_587780328

2 SubmittersRCV000116866RCV002528210
NM_025000.4(DCAF17):c.322-14C>T SNV
Germline		 Chr2:171448667 Conflicting classifications of pathogenicity Condition: not provided
Woodhouse-Sakati syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA236372 rs_192861143

12 SubmittersRCV000171450RCV000341904RCV001356642
NM_025000.4(DCAF17):c.1030T>C (p.Trp344Arg) SNV
Germline		 Chr2:171473914 Conflicting classifications of pathogenicity Woodhouse-Sakati syndrome
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1964867 rs_78488864

4 SubmittersRCV000317071RCV001552100RCV002523094
NM_025000.4(DCAF17):c.*1841G>T SNV
Germline		 Chr2:171482955 Conflicting classifications of pathogenicity Woodhouse-Sakati syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1965093 rs_114519296

2 SubmittersRCV000380959RCV003430841
NM_025000.4(DCAF17):c.533G>A (p.Arg178Gln) SNV
Germline		 Chr2:171449953 Conflicting classifications of pathogenicity Woodhouse-Sakati syndrome
Condition: not provided
Inborn genetic diseases
DCAF17-related disorder		 Criteria Provided
Conflicting Classifications
 CA1964692 rs_202231211

6 SubmittersRCV000404108RCV001090462RCV002521330RCV003912397
NM_025000.4(DCAF17):c.579C>A (p.Phe193Leu) SNV
Germline		 Chr2:171453165 Conflicting classifications of pathogenicity Woodhouse-Sakati syndrome
DCAF17-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1964721 rs_150095386

4 SubmittersRCV000360175RCV003972402RCV004721332
NM_025000.4(DCAF17):c.792T>C (p.Thr264=) SNV
Germline		 Chr2:171458431 Conflicting classifications of pathogenicity Woodhouse-Sakati syndrome
Condition: not provided
DCAF17-related disorder		 Criteria Provided
Conflicting Classifications
 CA1964793 rs_199742600

4 SubmittersRCV000403298RCV001566441RCV003972403
NM_025000.4(DCAF17):c.184G>A (p.Glu62Lys) SNV
Germline		 Chr2:171435140 Conflicting classifications of pathogenicity Woodhouse-Sakati syndrome
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1964566 rs_201346228

5 SubmittersRCV000338284RCV001567067RCV002521329
NM_025000.4(DCAF17):c.1266+6G>A SNV
Germline		 Chr2:171478076 Conflicting classifications of pathogenicity Woodhouse-Sakati syndrome
not specified
DCAF17-related disorder		 Criteria Provided
Conflicting Classifications
 CA1964930 rs_557741620

4 SubmittersRCV000276862RCV003151032RCV004757205
NM_025000.4(DCAF17):c.230+15A>G SNV
Germline		 Chr2:171435201 Conflicting classifications of pathogenicity Woodhouse-Sakati syndrome Criteria Provided
Conflicting Classifications
 CA1964580 rs_778241115

2 SubmittersRCV000303350
NM_025000.4(DCAF17):c.85C>T (p.Gln29Ter) SNV
Germline		 Chr2:171434662 Pathogenic/Likely pathogenic Woodhouse-Sakati syndrome Criteria Provided
Multiple Submitters
No Conflicts
 CA349597873 rs_868533593

2 SubmittersRCV000693279
NM_025000.4(DCAF17):c.982-2A>C SNV
Germline		 Chr2:171473864 Likely pathogenic Woodhouse-Sakati syndrome Criteria Provided
Single Submitter
 CA1964861 rs_780493577

1 SubmittersRCV000706435
NM_025000.4(DCAF17):c.192A>G (p.Gly64=) SNV
Germline		 Chr2:171435148 Conflicting classifications of pathogenicity Woodhouse-Sakati syndrome
Condition: not provided
DCAF17-related disorder		 Criteria Provided
Conflicting Classifications
 CA1964567 rs_200189652

5 SubmittersRCV001135197RCV003456439RCV003918349
NM_025000.4(DCAF17):c.580C>T (p.Arg194Ter) SNV
Germline		 Chr2:171453166 Likely pathogenic Woodhouse-Sakati syndrome Criteria Provided
Single Submitter
 CA349277132 rs_1470826074

1 SubmittersRCV000991368
NM_025000.4(DCAF17):c.-213C>T SNV
Germline		 Chr2:171434365 Conflicting classifications of pathogenicity Woodhouse-Sakati syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1964520 rs_377182072

2 SubmittersRCV001130741RCV003117776
NM_025000.4(DCAF17):c.27G>A (p.Val9=) SNV
Germline		 Chr2:171434604 Conflicting classifications of pathogenicity Woodhouse-Sakati syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1964535 rs_570110822

3 SubmittersRCV001133703RCV004597962
NM_025000.4(DCAF17):c.1422+14G>A SNV
Germline		 Chr2:171480207 Conflicting classifications of pathogenicity Woodhouse-Sakati syndrome Criteria Provided
Conflicting Classifications
 CA1964968 rs_368707741

2 SubmittersRCV001130871
NM_025000.4(DCAF17):c.1091+2T>C SNV
Germline		 Chr2:171473977 Pathogenic Woodhouse-Sakati syndrome Criteria Provided
Single Submitter
 CA349278952 rs_1235902967

1 SubmittersRCV001381851
NM_025000.4(DCAF17):c.60C>A (p.Cys20Ter) SNV
Germline		 Chr2:171434637 Pathogenic Woodhouse-Sakati syndrome Criteria Provided
Single Submitter
 CA349597653 rs_2105706833

1 SubmittersRCV001942024
NM_025000.4(DCAF17):c.1267-2A>C SNV
Germline		 Chr2:171480036 Likely pathogenic Woodhouse-Sakati syndrome Criteria Provided
Single Submitter
 CA349279375 rs_2529807772

1 SubmittersRCV002814779
NM_025000.4(DCAF17):c.231-8T>A SNV
Germline		 Chr2:171443515 Conflicting classifications of pathogenicity Woodhouse-Sakati syndrome Criteria Provided
Conflicting Classifications
 CA1964593 rs_774566117

2 SubmittersRCV002982486
NM_025000.4(DCAF17):c.217C>T (p.Arg73Cys) SNV
Germline		 Chr2:171435173 Conflicting classifications of pathogenicity Woodhouse-Sakati syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1964574 rs_766629618

2 SubmittersRCV002996447RCV003005234
NM_025000.4(DCAF17):c.459A>G (p.Arg153=) SNV
Germline		 Chr2:171449879 Conflicting classifications of pathogenicity Condition: not provided
Woodhouse-Sakati syndrome		 Criteria Provided
Conflicting Classifications
 CA429769170 rs_1414349657

2 SubmittersRCV003223054RCV005101408
NM_025000.4(DCAF17):c.1038T>G (p.Tyr346Ter) SNV
Germline		 Chr2:171473922 Pathogenic Woodhouse-Sakati syndrome Criteria Provided
Single Submitter
 CA349278829 rs_2529781949

1 SubmittersRCV003495416
NM_025000.4(DCAF17):c.535C>T (p.Gln179Ter) SNV
Germline		 Chr2:171449955 Pathogenic Woodhouse-Sakati syndrome Criteria Provided
Single Submitter
 CA349277026 rs_1279603411

1 SubmittersRCV003496849
NM_025000.4(DCAF17):c.308G>A (p.Trp103Ter) SNV
Germline		 Chr2:171443600 Pathogenic Woodhouse-Sakati syndrome Criteria Provided
Single Submitter
 CA349276516 rs_2529656673

1 SubmittersRCV003496330
NM_025000.4(DCAF17):c.126+2T>G SNV
Germline		 Chr2:171434705 Likely pathogenic Woodhouse-Sakati syndrome Criteria Provided
Single Submitter
 CA349598321 rs_2529603438

1 SubmittersRCV003496764
NM_025000.4(DCAF17):c.2T>C (p.Met1Thr) SNV
Germline		 Chr2:171434579 Pathogenic Woodhouse-Sakati syndrome Criteria Provided
Single Submitter
 CA349597202 rs_2529600613

1 SubmittersRCV003496775
NM_025000.4(DCAF17):c.537+1G>T SNV
Germline		 Chr2:171449958 Likely pathogenic Woodhouse-Sakati syndrome Criteria Provided
Single Submitter
 CA349277034 rs_2529688102

1 SubmittersRCV003599193
NM_025000.4(DCAF17):c.1092-2A>G SNV
Germline		 Chr2:171476858 Likely pathogenic Woodhouse-Sakati syndrome Criteria Provided
Single Submitter
 CA349278956 rs_1185777867

1 SubmittersRCV003599306
NM_025000.4(DCAF17):c.1097T>A (p.Leu366Ter) SNV
Germline		 Chr2:171476865 Pathogenic Woodhouse-Sakati syndrome Criteria Provided
Single Submitter
 CA349278970 rs_2529794608

1 SubmittersRCV003597582
NM_025000.4(DCAF17):c.1A>G (p.Met1Val) SNV
Germline		 Chr2:171434578 Pathogenic/Likely pathogenic Woodhouse-Sakati syndrome Criteria Provided
Multiple Submitters
No Conflicts
 CA1964529 rs_762608997

2 SubmittersRCV003817395
NM_025000.4(DCAF17):c.1A>T (p.Met1Leu) SNV
Germline		 Chr2:171434578 Pathogenic Woodhouse-Sakati syndrome Criteria Provided
Single Submitter
 CA349597191 rs_762608997

1 SubmittersRCV003871597
NM_025000.4(DCAF17):c.628-2A>C SNV
Germline		 Chr2:171457969 Likely pathogenic Woodhouse-Sakati syndrome Criteria Provided
Single Submitter
 CA349277235 rs_2529720274

1 SubmittersRCV004515809
NM_025000.4(DCAF17):c.322-2A>G SNV
Germline		 Chr2:171448679 Likely pathogenic Woodhouse-Sakati syndrome
Papillary renal cell carcinoma type 1		 Criteria Provided
Single Submitter
 CA349276557 rs_748029308

2 SubmittersRCV003988784RCV005937374
NM_025000.4(DCAF17):c.127-1G>C SNV
Germline		 Chr2:171435082 Pathogenic/Likely pathogenic Woodhouse-Sakati syndrome Criteria Provided
Multiple Submitters
No Conflicts
 CA349598513 rs_2529610539

2 SubmittersRCV004527519
NM_025000.4(DCAF17):c.1183-2A>G SNV
Germline		 Chr2:171477985 Likely pathogenic Woodhouse-Sakati syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005030561
NM_025000.4(DCAF17):c.733-1G>C SNV
Germline		 Chr2:171458371 Likely pathogenic Woodhouse-Sakati syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005115975
NM_025000.4(DCAF17):c.153G>A (p.Trp51Ter) SNV
Unknown		 Chr2:171435109 Pathogenic Woodhouse-Sakati syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005255969
NM_025000.4(DCAF17):c.739C>T (p.Gln247Ter) SNV
Germline		 Chr2:171458378 Pathogenic Woodhouse-Sakati syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006521889
NM_025000.4(DCAF17):c.839-2A>G SNV
Germline		 Chr2:171468886 Likely pathogenic Woodhouse-Sakati syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006593753