Total 20 pathogenic variants reported for Multicentric carpo-tarsal osteolysis with or without nephropathy 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_005461.5(MAFB):c.184A>C (p.Thr62Pro) SNV
Germline
Chr20:40688667 Pathogenic Multicentric carpo-tarsal osteolysis with or without nephropathy No Assertion Criteria Provided
CA129452 rs_387907004

1 SubmittersRCV000023747

NM_005461.5(MAFB):c.208T>G (p.Ser70Ala) SNV
Germline
Chr20:40688643 Pathogenic Multicentric carpo-tarsal osteolysis with or without nephropathy No Assertion Criteria Provided
CA129453 rs_387907005

1 SubmittersRCV000023748

NM_005461.5(MAFB):c.209C>T (p.Ser70Leu) SNV
Germline
Chr20:40688642 Pathogenic/Likely pathogenic Multicentric carpo-tarsal osteolysis with or without nephropathy
Inborn genetic diseases
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA129454 rs_387907006

3 SubmittersRCV000023749RCV001266648RCV005089308

NM_005461.5(MAFB):c.211C>T (p.Pro71Ser) SNV
Germline
Chr20:40688640 Pathogenic Multicentric carpo-tarsal osteolysis with or without nephropathy No Assertion Criteria Provided
CA129455 rs_387907007

1 SubmittersRCV000023750

NM_005461.5(MAFB):c.212C>T (p.Pro71Leu) SNV
Germline
Chr20:40688639 Pathogenic Multicentric carpo-tarsal osteolysis with or without nephropathy Criteria Provided
Single Submitter
CA129456 rs_387907008

2 SubmittersRCV000023751

NM_005461.5(MAFB):c.161C>T (p.Ser54Leu) SNV
Germline
Chr20:40688690 Pathogenic Multicentric carpo-tarsal osteolysis with or without nephropathy
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA213039 rs_730880014

3 SubmittersRCV000023752RCV000724296

NM_005461.5(MAFB):c.189G>A (p.Pro63=) SNV
Germline
Chr20:40688662 Conflicting classifications of pathogenicity Multicentric carpo-tarsal osteolysis with or without nephropathy
Condition: not provided
MAFB-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA9857826 rs_201590858

4 SubmittersRCV000266628RCV002057735RCV003910315RCV005238925

NM_005461.5(MAFB):c.173C>G (p.Thr58Arg) SNV
Germline
Chr20:40688678 Likely pathogenic Carpal osteolysis
Multicentric carpo-tarsal osteolysis with or without nephropathy
Criteria Provided
Single Submitter
CA408941739 rs_1600429281

2 SubmittersRCV000845260RCV002290978

NM_005461.5(MAFB):c.185C>T (p.Thr62Ile) SNV
Unknown
Chr20:40688666 Pathogenic Multicentric carpo-tarsal osteolysis with or without nephropathy Criteria Provided
Single Submitter
CA408941716 rs_1600429262

1 SubmittersRCV000990302

NM_005461.5(MAFB):c.184A>G (p.Thr62Ala) SNV
Germline
Chr20:40688667 Pathogenic Multicentric carpo-tarsal osteolysis with or without nephropathy Criteria Provided
Multiple Submitters
No Conflicts
CA408941720 rs_387907004

2 SubmittersRCV000995802

NM_005461.5(MAFB):c.197C>T (p.Ser66Phe) SNV
Germline
Chr20:40688654 Likely pathogenic Multicentric carpo-tarsal osteolysis with or without nephropathy Criteria Provided
Single Submitter
CA408941689 rs_1600429244

1 SubmittersRCV001004935

NM_005461.5(MAFB):c.648C>T (p.Leu216=) SNV
Germline
Chr20:40688203 Conflicting classifications of pathogenicity Multicentric carpo-tarsal osteolysis with or without nephropathy
Condition: not provided
Criteria Provided
Conflicting Classifications
CA9857758 rs_753634759

2 SubmittersRCV001136923RCV002558299

NM_005461.5(MAFB):c.393C>A (p.His131Gln) SNV
Germline
Chr20:40688458 Conflicting classifications of pathogenicity Multicentric carpo-tarsal osteolysis with or without nephropathy
Condition: not provided
Multicentric carpo-tarsal osteolysis with or without nephropathy
Duane retraction syndrome 3 with or without deafness
MAFB-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA9857801 rs_121912307

5 SubmittersRCV001136925RCV001856748RCV002491409RCV003433021RCV005589966

NM_005461.5(MAFB):c.368G>C (p.Ser123Thr) SNV
Germline
Chr20:40688483 Conflicting classifications of pathogenicity Multicentric carpo-tarsal osteolysis with or without nephropathy
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA9857804 rs_767671011

3 SubmittersRCV001136926RCV001856749RCV003163295

NM_005461.5(MAFB):c.294G>C (p.Glu98Asp) SNV
Germline
Chr20:40688557 Conflicting classifications of pathogenicity Condition: not provided
Multicentric carpo-tarsal osteolysis with or without nephropathy
Duane retraction syndrome 3 with or without deafness
Inborn genetic diseases
MAFB-related disorder
Criteria Provided
Conflicting Classifications
CA9857816 rs_374174345

4 SubmittersRCV002103788RCV002499959RCV003015298RCV003951051

NM_005461.5(MAFB):c.886G>A (p.Val296Ile) SNV
Germline
Chr20:40687965 Conflicting classifications of pathogenicity Condition: not provided
Multicentric carpo-tarsal osteolysis with or without nephropathy
Duane retraction syndrome 3 with or without deafness
Criteria Provided
Conflicting Classifications
CA9857738 rs_200660283

2 SubmittersRCV003002191RCV005028101

NM_005461.5(MAFB):c.203C>T (p.Pro68Leu) SNV
Germline
Chr20:40688648 Likely pathogenic Multicentric carpo-tarsal osteolysis with or without nephropathy Criteria Provided
Single Submitter
CA408941679 rs_2515463612

1 SubmittersRCV003227584

NM_005461.5(MAFB):c.340T>C (p.Ser114Pro) SNV
Germline
Chr20:40688511 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Multicentric carpo-tarsal osteolysis with or without nephropathy
Duane retraction syndrome 3 with or without deafness
Criteria Provided
Conflicting Classifications
CA9857814 rs_150718854

3 SubmittersRCV003732420RCV005662730RCV005037016

NM_005461.5(MAFB):c.176C>G (p.Pro59Arg) SNV
Germline
Chr20:40688675 Likely pathogenic Multicentric carpo-tarsal osteolysis with or without nephropathy Criteria Provided
Single Submitter
rs_2515463659

1 SubmittersRCV004566434

NM_005461.5(MAFB):c.176C>T (p.Pro59Leu) SNV
Germline
Chr20:40688675 Pathogenic/Likely pathogenic Condition: not provided
Multicentric carpo-tarsal osteolysis with or without nephropathy
Duane retraction syndrome 3 with or without deafness
Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV004794882RCV005038839