Total 28 pathogenic variants reported for Arthrogryposis, renal dysfunction, and cholestasis 2 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001193315.2(VIPAS39):c.535C>T (p.Gln179Ter) SNV
Germline		 Chr14:77444311 Pathogenic Arthrogryposis, renal dysfunction, and cholestasis 2 No Assertion Criteria Provided
 CA113860 rs_267607173

1 SubmittersRCV000000131
NM_001193315.2(VIPAS39):c.658C>T (p.Arg220Ter) SNV
Germline		 Chr14:77442636 Pathogenic Arthrogryposis, renal dysfunction, and cholestasis 2 Criteria Provided
Single Submitter
 CA113864 rs_200370925

2 SubmittersRCV000000133
NM_001193315.2(VIPAS39):c.871C>T (p.Gln291Ter) SNV
Germline		 Chr14:77435885 Pathogenic Arthrogryposis, renal dysfunction, and cholestasis 2 No Assertion Criteria Provided
 CA113867 rs_267607171

1 SubmittersRCV000000134
NM_001193315.2(VIPAS39):c.2T>G (p.Met1Arg) SNV
Germline		 Chr14:77454101 Pathogenic Arthrogryposis, renal dysfunction, and cholestasis 2 No Assertion Criteria Provided
 CA113870 rs_267607172

1 SubmittersRCV000000135
NM_001193315.2(VIPAS39):c.1455C>A (p.Ser485Arg) SNV
Germline		 Chr14:77428376 Conflicting classifications of pathogenicity Condition: not provided
Arthrogryposis, renal dysfunction, and cholestasis 2
VIPAS39-related disorder
not specified		 Criteria Provided
Conflicting Classifications
 CA7287709 rs_145453157

7 SubmittersRCV000594831RCV000765181RCV003915706RCV005898669
NM_001193315.2(VIPAS39):c.15G>A (p.Lys5=) SNV
Germline		 Chr14:77454088 Conflicting classifications of pathogenicity Condition: not provided
Arthrogryposis, renal dysfunction, and cholestasis 2		 Criteria Provided
Conflicting Classifications
 CA7288230 rs_768593671

3 SubmittersRCV000592745RCV005010579
NM_001193315.2(VIPAS39):c.958C>T (p.Arg320Ter) SNV
Germline		 Chr14:77435348 Pathogenic/Likely pathogenic Condition: not provided
Arthrogryposis, renal dysfunction, and cholestasis 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7287878 rs_747749610

3 SubmittersRCV000592946RCV005357788
NM_001193315.2(VIPAS39):c.1184G>A (p.Trp395Ter) SNV
Germline		 Chr14:77429763 Pathogenic Arthrogryposis, renal dysfunction, and cholestasis 2 No Assertion Criteria Provided
 CA390696631 rs_1555364979

1 SubmittersRCV000625535
NM_001193315.2(VIPAS39):c.677A>G (p.His226Arg) SNV
Germline		 Chr14:77442617 Likely pathogenic Arthrogryposis, renal dysfunction, and cholestasis 2 No Assertion Criteria Provided
 CA390697823 rs_1555366438

1 SubmittersRCV000625534
NM_001193315.2(VIPAS39):c.171C>G (p.Val57=) SNV
Germline		 Chr14:77453324 Conflicting classifications of pathogenicity Condition: not provided
Arthrogryposis, renal dysfunction, and cholestasis 2
Thyroid cancer, nonmedullary, 1		 Criteria Provided
Conflicting Classifications
 CA7288190 rs_144120903

4 SubmittersRCV000733214RCV005010742RCV005897263
NM_001193315.2(VIPAS39):c.836+4A>G SNV
Germline		 Chr14:77437804 Conflicting classifications of pathogenicity Condition: not provided
Arthrogryposis, renal dysfunction, and cholestasis 2
not specified		 Criteria Provided
Conflicting Classifications
 CA7287952 rs_201004985

3 SubmittersRCV000885626RCV005012391RCV005408048
NM_001193315.2(VIPAS39):c.484C>T (p.Arg162Ter) SNV
Germline		 Chr14:77448514 Pathogenic Condition: not provided
Arthrogryposis, renal dysfunction, and cholestasis 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7288082 rs_200779594

2 SubmittersRCV001389435RCV005005927
NM_001193315.2(VIPAS39):c.1141C>T (p.Arg381Ter) SNV
Germline		 Chr14:77433880 Pathogenic Arthrogryposis, renal dysfunction, and cholestasis 2
Condition: not provided		 Criteria Provided
Single Submitter
 CA7287819 rs_778181495

2 SubmittersRCV002275709RCV005058217
NM_001193315.2(VIPAS39):c.907A>G (p.Ile303Val) SNV
Germline		 Chr14:77435849 Conflicting classifications of pathogenicity Arthrogryposis, renal dysfunction, and cholestasis 2
Condition: not provided
Inborn genetic diseases
VIPAS39-related disorder		 Criteria Provided
Conflicting Classifications
 CA263838110 rs_760795319

5 SubmittersRCV004720382RCV002610532RCV004963458RCV004731491
NM_001193315.2(VIPAS39):c.842C>G (p.Pro281Arg) SNV
Germline		 Chr14:77435914 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
not specified
Arthrogryposis, renal dysfunction, and cholestasis 2		 Criteria Provided
Conflicting Classifications
 CA7287925 rs_151206967

5 SubmittersRCV002917766RCV002917765RCV003988033RCV005010772
NM_001193315.2(VIPAS39):c.808C>T (p.Arg270Ter) SNV
Germline		 Chr14:77437836 Pathogenic Condition: not provided
Arthrogryposis, renal dysfunction, and cholestasis 2
Arthrogryposis with renal dysfunction and cholestasis syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7287955 rs_755556421

5 SubmittersRCV003314977RCV003984871RCV004017979
NM_001193315.2(VIPAS39):c.1048-1G>T SNV
Germline		 Chr14:77434304 Likely pathogenic Arthrogryposis, renal dysfunction, and cholestasis 2 No Assertion Criteria Provided
 CA390696950 rs_2503151300

1 SubmittersRCV003333868
NM_001193315.2(VIPAS39):c.93+9A>G SNV
Germline		 Chr14:77454001 Conflicting classifications of pathogenicity Condition: not provided
Arthrogryposis, renal dysfunction, and cholestasis 2		 Criteria Provided
Conflicting Classifications
 CA263822339 rs_202064596

2 SubmittersRCV003853258RCV005013242
NM_001193315.2(VIPAS39):c.1048-1G>A SNV
Germline		 Chr14:77434304 Likely pathogenic Arthrogryposis, renal dysfunction, and cholestasis 2 Criteria Provided
Single Submitter

1 SubmittersRCV004790078
NM_001193315.2(VIPAS39):c.837-2A>C SNV
Germline		 Chr14:77435921 Likely pathogenic Arthrogryposis, renal dysfunction, and cholestasis 2 Criteria Provided
Single Submitter

1 SubmittersRCV005009311
NM_001193315.2(VIPAS39):c.585C>T (p.Asn195=) SNV
Germline		 Chr14:77444261 Conflicting classifications of pathogenicity Arthrogryposis, renal dysfunction, and cholestasis 2
Condition: not provided		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV005009318RCV006565761
NM_001193315.2(VIPAS39):c.166C>T (p.Arg56Ter) SNV
Germline		 Chr14:77453329 Likely pathogenic Arthrogryposis, renal dysfunction, and cholestasis 2 Criteria Provided
Single Submitter

1 SubmittersRCV005009329
NM_001193315.2(VIPAS39):c.344-2A>G SNV
Germline		 Chr14:77449754 Pathogenic Arthrogryposis, renal dysfunction, and cholestasis 2 Criteria Provided
Single Submitter

1 SubmittersRCV005882406