Total 60 pathogenic variants reported for Arthrogryposis, renal dysfunction, and cholestasis 1 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_018668.5(VPS33B):c.1594C>T (p.Arg532Ter) SNV
Germline		 Chr15:90999963 Pathogenic Arthrogryposis, renal dysfunction, and cholestasis 1
Condition: not provided		 Criteria Provided
Single Submitter
 CA115401 rs_121434383

2 SubmittersRCV000002285RCV003555897
NM_018668.5(VPS33B):c.1312C>T (p.Arg438Ter) SNV
Germline		 Chr15:91002143 Pathogenic Arthrogryposis, renal dysfunction, and cholestasis 1
Condition: not provided
VPS33B-related disorder
Arthrogryposis, renal dysfunction, and cholestasis 1
Keratoderma-ichthyosis-deafness syndrome, autosomal recessive
Cholestasis, progressive familial intrahepatic, 12		 Criteria Provided
Multiple Submitters
No Conflicts
 CA115404 rs_121434384

5 SubmittersRCV000002286RCV002292453RCV004754235RCV005016223
NM_018668.5(VPS33B):c.89T>C (p.Leu30Pro) SNV
Germline		 Chr15:91022161 Pathogenic Arthrogryposis, renal dysfunction, and cholestasis 1 No Assertion Criteria Provided
 CA115407 rs_121434385

1 SubmittersRCV000002287
NM_018668.5(VPS33B):c.700+1G>A SNV
Germline		 Chr15:91006949 Pathogenic Arthrogryposis, renal dysfunction, and cholestasis 1 No Assertion Criteria Provided
 CA115409 rs_794726658

1 SubmittersRCV000002288
NM_018668.5(VPS33B):c.1225+5G>C SNV
Germline		 Chr15:91004872 Pathogenic/Likely pathogenic Arthrogryposis, renal dysfunction, and cholestasis 1
Condition: not provided
Inborn genetic diseases
VPS33B-related disorder
Arthrogryposis, renal dysfunction, and cholestasis 1
Keratoderma-ichthyosis-deafness syndrome, autosomal recessive
Cholestasis, progressive familial intrahepatic, 12		 Criteria Provided
Multiple Submitters
No Conflicts
 CA145382 rs_398122407

9 SubmittersRCV000074446RCV000599157RCV000624476RCV003905035RCV005007987
NM_018668.5(VPS33B):c.944G>A (p.Arg315Gln) SNV
Germline		 Chr15:91005780 Conflicting classifications of pathogenicity Condition: not provided
VPS33B-related disorder
not specified
Arthrogryposis, renal dysfunction, and cholestasis 1		 Criteria Provided
Conflicting Classifications
 CA7744842 rs_145303578

7 SubmittersRCV000400617RCV003930162RCV005895866RCV000333016
NM_018668.5(VPS33B):c.1274G>A (p.Ser425Asn) SNV
Germline		 Chr15:91002181 Conflicting classifications of pathogenicity Arthrogryposis, renal dysfunction, and cholestasis 1
Condition: not provided
Abnormal bleeding
Thrombocytopenia
VPS33B-related disorder
Keratoderma-ichthyosis-deafness syndrome, autosomal recessive
Cholestasis, progressive familial intrahepatic, 12
Arthrogryposis, renal dysfunction, and cholestasis 1		 Criteria Provided
Conflicting Classifications
 CA7744691 rs_139709507

7 SubmittersRCV000265166RCV000734911RCV001270571RCV003930369RCV005396956
NM_018668.5(VPS33B):c.1170+5G>A SNV
Germline		 Chr15:91005050 Conflicting classifications of pathogenicity Arthrogryposis, renal dysfunction, and cholestasis 1
Condition: not provided
not specified
VPS33B-related disorder		 Criteria Provided
Conflicting Classifications
 CA7744767 rs_201431055

6 SubmittersRCV000320186RCV000915695RCV003401332RCV003922330
NM_018668.5(VPS33B):c.1148T>C (p.Ile383Thr) SNV
Germline		 Chr15:91005077 Conflicting classifications of pathogenicity Arthrogryposis, renal dysfunction, and cholestasis 1
not specified
Condition: not provided
Microcephaly
VPS33B-related disorder		 Criteria Provided
Conflicting Classifications
 CA7744773 rs_149121639

6 SubmittersRCV000372554RCV000729557RCV000899084RCV001252830RCV003940242
NM_018668.5(VPS33B):c.403+2T>A SNV
Germline		 Chr15:91009799 Pathogenic Arthrogryposis, renal dysfunction, and cholestasis 1
Cholestasis, progressive familial intrahepatic, 12
Keratoderma-ichthyosis-deafness syndrome, autosomal recessive
Arthrogryposis, renal dysfunction, and cholestasis 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7745082 rs_769333468

4 SubmittersRCV000343206RCV005010279
NM_018668.5(VPS33B):c.680A>G (p.His227Arg) SNV
Germline		 Chr15:91006970 Conflicting classifications of pathogenicity Arthrogryposis, renal dysfunction, and cholestasis 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA7744960 rs_760894269

2 SubmittersRCV000350385RCV003565406
NM_018668.5(VPS33B):c.319C>T (p.Arg107Ter) SNV
Germline		 Chr15:91013842 Pathogenic Condition: not provided
Arthrogryposis, renal dysfunction, and cholestasis 1
Keratoderma-ichthyosis-deafness syndrome, autosomal recessive
Cholestasis, progressive familial intrahepatic, 12		 Criteria Provided
Multiple Submitters
No Conflicts
 CA393859958 rs_1057519063

2 SubmittersRCV002521490RCV005010317
NM_018668.5(VPS33B):c.1498G>T (p.Glu500Ter) SNV
Germline		 Chr15:91000573 Pathogenic/Likely pathogenic Arthrogryposis, renal dysfunction, and cholestasis 1
Condition: not provided
Keratoderma-ichthyosis-deafness syndrome, autosomal recessive
Cholestasis, progressive familial intrahepatic, 12
Arthrogryposis, renal dysfunction, and cholestasis 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7744614 rs_751858602

4 SubmittersRCV000504086RCV002524333RCV005018863
NM_018668.5(VPS33B):c.75G>A (p.Gln25=) SNV
Germline		 Chr15:91022175 Conflicting classifications of pathogenicity Condition: not provided
Arthrogryposis, renal dysfunction, and cholestasis 1
not specified		 Criteria Provided
Conflicting Classifications
 CA492173623 rs_1289650070

4 SubmittersRCV000594885RCV001118851RCV004800485
NM_018668.5(VPS33B):c.239+5G>A SNV
Germline		 Chr15:91016958 Pathogenic/Likely pathogenic Condition: not provided
Arthrogryposis, renal dysfunction, and cholestasis 1
Inborn genetic diseases
Cholestasis, progressive familial intrahepatic, 12
Arthrogryposis, renal dysfunction, and cholestasis 1
Keratoderma-ichthyosis-deafness syndrome, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7745168 rs_372769808

4 SubmittersRCV000594279RCV002285164RCV004965594RCV005010578
NM_018668.5(VPS33B):c.1105+10G>A SNV
Germline		 Chr15:91005370 Conflicting classifications of pathogenicity Condition: not provided
Arthrogryposis, renal dysfunction, and cholestasis 1
VPS33B-related disorder		 Criteria Provided
Conflicting Classifications
 CA7744793 rs_370555380

5 SubmittersRCV000593946RCV001120711RCV003980098
NM_018668.5(VPS33B):c.240-9C>T SNV
Germline		 Chr15:91014442 Conflicting classifications of pathogenicity Condition: not provided
Arthrogryposis, renal dysfunction, and cholestasis 1
VPS33B-related disorder		 Criteria Provided
Conflicting Classifications
 CA7745148 rs_781107857

4 SubmittersRCV000595055RCV001117219RCV003962727
NM_018668.5(VPS33B):c.498G>C (p.Leu166=) SNV
Germline		 Chr15:91007870 Likely pathogenic Arthrogryposis, renal dysfunction, and cholestasis 1 No Assertion Criteria Provided
 CA492172805 rs_1555459218

1 SubmittersRCV000625584
NM_018668.5(VPS33B):c.151C>T (p.Arg51Ter) SNV
Germline		 Chr15:91017831 Pathogenic Arthrogryposis, renal dysfunction, and cholestasis 1
Condition: not provided
Keratoderma-ichthyosis-deafness syndrome, autosomal recessive
Cholestasis, progressive familial intrahepatic, 12
Arthrogryposis, renal dysfunction, and cholestasis 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA393861502 rs_11542638

3 SubmittersRCV000714694RCV003147539RCV005021118
NM_018668.5(VPS33B):c.403G>A (p.Asp135Asn) SNV
Germline		 Chr15:91009801 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
not specified
Cholestasis, progressive familial intrahepatic, 12
Arthrogryposis, renal dysfunction, and cholestasis 1
Keratoderma-ichthyosis-deafness syndrome, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA7745083 rs_369726600

4 SubmittersRCV000730139RCV002535143RCV004782535RCV005010736
NM_001193315.2(VIPAS39):c.1179+1G>A SNV
Germline		 Chr14:77433841 Pathogenic Arthrogryposis, renal dysfunction, and cholestasis 1 Criteria Provided
Single Submitter
 CA390696653 rs_1594895847

1 SubmittersRCV000790403
NM_018668.5(VPS33B):c.1726T>C (p.Cys576Arg) SNV
Germline		 Chr15:90999725 Pathogenic Cholestasis, progressive familial intrahepatic, 12
Arthrogryposis, renal dysfunction, and cholestasis 1		 No Assertion Criteria Provided
 CA393884656 rs_1596348299

2 SubmittersRCV002275163RCV000855548
NM_018668.5(VPS33B):c.1171-6A>G SNV
Germline		 Chr15:91004937 Conflicting classifications of pathogenicity Condition: not provided
Arthrogryposis, renal dysfunction, and cholestasis 1
VPS33B-related disorder		 Criteria Provided
Conflicting Classifications
 CA7744751 rs_370691219

3 SubmittersRCV000936392RCV001118766RCV003942936
NM_018668.5(VPS33B):c.888T>C (p.Asn296=) SNV
Germline		 Chr15:91006024 Conflicting classifications of pathogenicity Arthrogryposis, renal dysfunction, and cholestasis 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA7744874 rs_762443300

2 SubmittersRCV001115784RCV003679037
NM_018668.5(VPS33B):c.1775-14A>G SNV
Germline		 Chr15:90999068 Conflicting classifications of pathogenicity Arthrogryposis, renal dysfunction, and cholestasis 1
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA7744504 rs_374202621

3 SubmittersRCV001117128RCV005236612RCV003769156
NM_018668.5(VPS33B):c.1780A>G (p.Arg594Gly) SNV
Germline		 Chr15:90999049 Conflicting classifications of pathogenicity Arthrogryposis, renal dysfunction, and cholestasis 1
not specified
Condition: not provided
Arthrogryposis, renal dysfunction, and cholestasis 1
Keratoderma-ichthyosis-deafness syndrome, autosomal recessive
Cholestasis, progressive familial intrahepatic, 12		 Criteria Provided
Conflicting Classifications
 CA274808566 rs_868354713

6 SubmittersRCV001329687RCV001824173RCV002275359RCV005014435
NM_018668.5(VPS33B):c.277C>T (p.Arg93Ter) SNV
Germline		 Chr15:91014396 Pathogenic Condition: not provided
VPS33B-related disorder
Arthrogryposis, renal dysfunction, and cholestasis 1
Keratoderma-ichthyosis-deafness syndrome, autosomal recessive
Cholestasis, progressive familial intrahepatic, 12
Arthrogryposis, renal dysfunction, and cholestasis 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7745138 rs_368124813

6 SubmittersRCV002034578RCV003911012RCV005232660RCV005006046
NM_000138.5(FBN1):c.3589+1G>A SNV
Germline		 Chr15:48487074 Pathogenic Arthrogryposis, renal dysfunction, and cholestasis 1 Criteria Provided
Single Submitter
 CA392324868 rs_1555398501

1 SubmittersRCV001806333
NM_018668.5(VPS33B):c.498+4A>G SNV
Germline		 Chr15:91007866 Likely pathogenic Keratoderma-ichthyosis-deafness syndrome, autosomal recessive
Arthrogryposis, renal dysfunction, and cholestasis 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7745051 rs_532940784

2 SubmittersRCV004812415RCV001806367
NM_018668.5(VPS33B):c.67C>T (p.Arg23Ter) SNV
Germline		 Chr15:91022183 Pathogenic Arthrogryposis, renal dysfunction, and cholestasis 1 Criteria Provided
Single Submitter
 CA393863781 rs_1263540507

1 SubmittersRCV002052065
NM_018668.5(VPS33B):c.1602G>A (p.Trp534Ter) SNV
Germline		 Chr15:90999955 Likely pathogenic Arthrogryposis, renal dysfunction, and cholestasis 1 Criteria Provided
Single Submitter
 CA393884971 rs_2151662496

1 SubmittersRCV002052230
NM_018668.5(VPS33B):c.1519C>T (p.Arg507Ter) SNV
Germline		 Chr15:91000552 Pathogenic Arthrogryposis, renal dysfunction, and cholestasis 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7744609 rs_773306000

4 SubmittersRCV002246808RCV006470289
NM_018668.5(VPS33B):c.84T>A (p.Tyr28Ter) SNV
Germline		 Chr15:91022166 Pathogenic Arthrogryposis, renal dysfunction, and cholestasis 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA393863713 rs_2041122746

2 SubmittersRCV002246809RCV003094042
NM_018668.5(VPS33B):c.240-1G>C SNV
Germline		 Chr15:91014434 Pathogenic/Likely pathogenic Keratoderma-ichthyosis-deafness syndrome, autosomal recessive
Arthrogryposis, renal dysfunction, and cholestasis 1
Keratoderma-ichthyosis-deafness syndrome, autosomal recessive
Cholestasis, progressive familial intrahepatic, 12
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA393860824 rs_1360462093

3 SubmittersRCV002275707RCV005008511RCV005095995
NM_018668.5(VPS33B):c.621G>A (p.Trp207Ter) SNV
Germline		 Chr15:91007029 Likely pathogenic Arthrogryposis, renal dysfunction, and cholestasis 1 No Assertion Criteria Provided
 CA393855383 rs_2544229925

1 SubmittersRCV002285217
NM_018668.5(VPS33B):c.1384C>T (p.Leu462=) SNV
Germline		 Chr15:91002071 Conflicting classifications of pathogenicity Condition: not provided
VPS33B-related disorder
Arthrogryposis, renal dysfunction, and cholestasis 1
Keratoderma-ichthyosis-deafness syndrome, autosomal recessive
Cholestasis, progressive familial intrahepatic, 12		 Criteria Provided
Conflicting Classifications
 CA7744668 rs_138372388

3 SubmittersRCV003855062RCV003893521RCV005013249
NM_018668.5(VPS33B):c.290-1G>C SNV
Germline		 Chr15:91013872 Likely pathogenic Arthrogryposis, renal dysfunction, and cholestasis 1 Criteria Provided
Single Submitter

1 SubmittersRCV004819954
NM_018668.5(VPS33B):c.1030+1G>A SNV
Germline		 Chr15:91005693 Likely pathogenic Arthrogryposis, renal dysfunction, and cholestasis 1
Keratoderma-ichthyosis-deafness syndrome, autosomal recessive
Cholestasis, progressive familial intrahepatic, 12
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005012223RCV005112603
NM_018668.5(VPS33B):c.778+1G>T SNV
Germline		 Chr15:91006651 Likely pathogenic Cholestasis, progressive familial intrahepatic, 12
Keratoderma-ichthyosis-deafness syndrome, autosomal recessive
Arthrogryposis, renal dysfunction, and cholestasis 1		 Criteria Provided
Single Submitter

1 SubmittersRCV005012228
NM_018668.5(VPS33B):c.290-1G>A SNV
Germline		 Chr15:91013872 Likely pathogenic Cholestasis, progressive familial intrahepatic, 12
Keratoderma-ichthyosis-deafness syndrome, autosomal recessive
Arthrogryposis, renal dysfunction, and cholestasis 1		 Criteria Provided
Single Submitter

1 SubmittersRCV005017449
NM_018668.5(VPS33B):c.177+1G>A SNV
Germline		 Chr15:91017804 Likely pathogenic Cholestasis, progressive familial intrahepatic, 12
Keratoderma-ichthyosis-deafness syndrome, autosomal recessive
Arthrogryposis, renal dysfunction, and cholestasis 1		 Criteria Provided
Single Submitter

1 SubmittersRCV005017451
NM_018668.5(VPS33B):c.1480-1G>T SNV
Germline		 Chr15:91000592 Likely pathogenic Cholestasis, progressive familial intrahepatic, 12
Keratoderma-ichthyosis-deafness syndrome, autosomal recessive
Arthrogryposis, renal dysfunction, and cholestasis 1		 Criteria Provided
Single Submitter

1 SubmittersRCV005012218