Total 182 pathogenic variants reported for Rhizomelic chondrodysplasia punctata 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_003659.4(AGPS):c.1256G>A (p.Arg419His) SNV
Germline
Chr2:177493170 Likely pathogenic Rhizomelic chondrodysplasia punctata type 3 Criteria Provided
Single Submitter
CA118386 rs_121434411

2 SubmittersRCV000007024

NM_003659.4(AGPS):c.926C>T (p.Thr309Ile) SNV
Germline
Chr2:177461948 Likely pathogenic Rhizomelic chondrodysplasia punctata type 3 Criteria Provided
Single Submitter
CA118387 rs_121434412

2 SubmittersRCV000007025

NM_003659.4(AGPS):c.1406T>C (p.Leu469Pro) SNV
Germline
Chr2:177499661 Pathogenic Rhizomelic chondrodysplasia punctata type 3 No Assertion Criteria Provided
CA118388 rs_121434413

1 SubmittersRCV000007026

NM_014236.4(GNPAT):c.632G>A (p.Arg211His) SNV
Germline
Chr1:231265356 Pathogenic Rhizomelic chondrodysplasia punctata type 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA118534 rs_121434439

3 SubmittersRCV000007243RCV001388781

NM_014236.4(GNPAT):c.631C>T (p.Arg211Cys) SNV
Germline
Chr1:231265355 Likely pathogenic Rhizomelic chondrodysplasia punctata type 2
Rhizomelic chondrodysplasia punctata
Criteria Provided
Multiple Submitters
No Conflicts
CA118535 rs_121434440

3 SubmittersRCV000007244RCV003234895

NM_000288.4(PEX7):c.875T>A (p.Leu292Ter) SNV
Germline
Chr6:136898213 Pathogenic Rhizomelic chondrodysplasia punctata type 1
Condition: not provided
PEX7-related disorder
Peroxisome biogenesis disorder 9B
Peroxisome biogenesis disorder 9B
Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
Rhizomelic chondrodysplasia punctata type 1
Phytanic acid storage disease
Criteria Provided
Multiple Submitters
No Conflicts
CA340698 rs_1805137

26 SubmittersRCV000008222RCV000339271RCV000352824RCV000380952RCV000477898RCV000515356

NM_000288.4(PEX7):c.653C>T (p.Ala218Val) SNV
Germline
Chr6:136869909 Pathogenic/Likely pathogenic Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
Condition: not provided
Peroxisome biogenesis disorder 9B
Rhizomelic chondrodysplasia punctata type 1
Phytanic acid storage disease
Rhizomelic chondrodysplasia punctata
Criteria Provided
Multiple Submitters
No Conflicts
CA130482 rs_121909151

11 SubmittersRCV000008223RCV000032925RCV000656252RCV002504768RCV001831555

NM_000288.4(PEX7):c.649G>A (p.Gly217Arg) SNV
Germline
Chr6:136869905 Pathogenic/Likely pathogenic Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
Condition: not provided
Rhizomelic chondrodysplasia punctata
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA340700 rs_121909152

12 SubmittersRCV000008224RCV000454287RCV001509294RCV001831556RCV002512897

NM_000288.4(PEX7):c.694C>T (p.Arg232Ter) SNV
Germline
Chr6:136869950 Pathogenic Rhizomelic chondrodysplasia punctata type 1
Condition: not provided
Peroxisome biogenesis disorder 9B
Rhizomelic chondrodysplasia punctata
Criteria Provided
Multiple Submitters
No Conflicts
CA254243 rs_121909153

9 SubmittersRCV000008225RCV000255604RCV001064035RCV001826452

NM_000288.4(PEX7):c.903+1G>C SNV
Germline
Chr6:136898242 Pathogenic Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
PEX7-related disorder
Rhizomelic chondrodysplasia punctata
Condition: not provided
Peroxisome biogenesis disorder 9B
Rhizomelic chondrodysplasia punctata type 1
Phytanic acid storage disease
Criteria Provided
Multiple Submitters
No Conflicts
CA340702 rs_148591292

17 SubmittersRCV000008227RCV000309699RCV000388756RCV001027954RCV000579182RCV002496304

NM_000288.4(PEX7):c.345T>G (p.Tyr115Ter) SNV
Germline
Chr6:136845620 Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 9B
Rhizomelic chondrodysplasia punctata type 1
Rhizomelic chondrodysplasia punctata
Criteria Provided
Multiple Submitters
No Conflicts
CA119072 rs_121909154

6 SubmittersRCV000008228RCV000411170RCV001826453

NM_000288.4(PEX7):c.340-10A>G SNV
Germline
Chr6:136845605 Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 9B
Phytanic acid storage disease
Rhizomelic chondrodysplasia punctata type 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA119074 rs_267608255

9 SubmittersRCV000008229RCV000032116RCV000393497RCV000731239

NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter) SNV
Germline
Chr6:136822785 Pathogenic Peroxisome biogenesis disorder 9B
Rhizomelic chondrodysplasia punctata type 1
PEX7-related disorder
Peroxisome biogenesis disorder 9B
Rhizomelic chondrodysplasia punctata type 1
Phytanic acid storage disease
Rhizomelic chondrodysplasia punctata
Inborn genetic diseases
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA119075 rs_61753238

10 SubmittersRCV000008230RCV000147254RCV000324320RCV000763558RCV001826454RCV002512898RCV003137500

NM_000288.4(PEX7):c.40A>C (p.Thr14Pro) SNV
Germline
Chr6:136822705 Pathogenic Peroxisome biogenesis disorder 9B
Rhizomelic chondrodysplasia punctata type 1
Criteria Provided
Single Submitter
CA119078 rs_61753233

3 SubmittersRCV000008233RCV000032117

NM_014236.4(GNPAT):c.1280-3T>G SNV
Germline
Chr1:231270755 Likely pathogenic Rhizomelic chondrodysplasia punctata type 2
Condition: not provided
Criteria Provided
Single Submitter
rs_1571955307

2 SubmittersRCV000029141RCV003556087

NM_014236.4(GNPAT):c.1937+5G>A SNV
Germline
Chr1:231275503 Pathogenic Rhizomelic chondrodysplasia punctata type 2 No Assertion Criteria Provided
rs_1571960363

1 SubmittersRCV000029143

NM_003659.4(AGPS):c.1703C>T (p.Thr568Met) SNV
Germline
Chr2:177521274 Pathogenic Rhizomelic chondrodysplasia punctata type 3 No Assertion Criteria Provided
CA129916 rs_387907214

1 SubmittersRCV000029144

NM_000288.4(PEX7):c.854A>G (p.His285Arg) SNV
Germline
Chr6:136898192 Pathogenic/Likely pathogenic Rhizomelic chondrodysplasia punctata type 1
Condition: not provided
Peroxisome biogenesis disorder 9B
Criteria Provided
Multiple Submitters
No Conflicts
CA343128 rs_62653611

4 SubmittersRCV000032118RCV000656253RCV003473247

NM_000288.4(PEX7):c.74C>T (p.Ser25Phe) SNV
Germline
Chr6:136822739 Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
Criteria Provided
Conflicting Classifications
CA274123 rs_61753236

3 SubmittersRCV000169280RCV000654914

NM_000288.4(PEX7):c.188+1G>C SNV
Germline
Chr6:136825272 Pathogenic/Likely pathogenic Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
Condition: not provided
Phytanic acid storage disease
Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
Criteria Provided
Multiple Submitters
No Conflicts
CA274207 rs_267608254

6 SubmittersRCV000169353RCV001068245RCV003233479RCV002485052

NM_000288.4(PEX7):c.400G>A (p.Asp134Asn) SNV
Unknown
Chr6:136845675 Likely pathogenic Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
Criteria Provided
Multiple Submitters
No Conflicts
CA273876 rs_764346452

2 SubmittersRCV000169000RCV003474894

NM_000288.4(PEX7):c.618G>A (p.Trp206Ter) SNV
Germline
Chr6:136866718 Pathogenic/Likely pathogenic Rhizomelic chondrodysplasia punctata type 1
Condition: not provided
Peroxisome biogenesis disorder 9B
Criteria Provided
Multiple Submitters
No Conflicts
CA274350 rs_61753245

7 SubmittersRCV000169479RCV000578930RCV001380052

NM_001351132.2(PEX5):c.1814G>A (p.Ser605Asn) SNV
Germline
Chr12:7210117 Conflicting classifications of pathogenicity Condition: not provided
Peroxisome biogenesis disorder 2A (Zellweger)
Peroxisome biogenesis disorder 2B
Rhizomelic chondrodysplasia punctata type 5
Peroxisome biogenesis disorder 2A (Zellweger)
Peroxisome biogenesis disorder 2B
Inborn genetic diseases
PEX5-related disorder
Criteria Provided
Conflicting Classifications
CA240687 rs_146567534

7 SubmittersRCV000175024RCV000329888RCV000660592RCV001046733RCV002516657RCV003947478

NM_000288.4(PEX7):c.576C>T (p.Ile192=) SNV
Germline
Chr6:136866676 Conflicting classifications of pathogenicity Condition: not provided
Peroxisome biogenesis disorder 9B
Rhizomelic chondrodysplasia punctata type 1
Criteria Provided
Conflicting Classifications
CA246556 rs_776411851

6 SubmittersRCV000179285RCV000265395RCV000301749

NM_014236.4(GNPAT):c.555A>T (p.Ile185=) SNV
Germline
Chr1:231262839 Conflicting classifications of pathogenicity not specified
Rhizomelic chondrodysplasia punctata type 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA209454 rs_34613633

6 SubmittersRCV000194948RCV000999765RCV000757338

NM_014236.4(GNPAT):c.1212T>C (p.Ala404=) SNV
Germline
Chr1:231267836 Conflicting classifications of pathogenicity not specified
Rhizomelic chondrodysplasia punctata
Condition: not provided
Rhizomelic chondrodysplasia punctata type 2
Criteria Provided
Conflicting Classifications
CA1451983 rs_143205045

5 SubmittersRCV000252621RCV000269302RCV000879373RCV001286439

NM_003659.4(AGPS):c.1380A>C (p.Pro460=) SNV
Germline
Chr2:177499635 Conflicting classifications of pathogenicity not specified
Rhizomelic chondrodysplasia punctata type 3
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1980324 rs_148418568

5 SubmittersRCV000360907RCV001001321RCV000973783

NM_000288.4(PEX7):c.330C>T (p.His110=) SNV
Germline
Chr6:136826460 Conflicting classifications of pathogenicity Condition: not provided
Peroxisome biogenesis disorder 9B
Rhizomelic chondrodysplasia punctata type 1
PEX7-related disorder
Criteria Provided
Conflicting Classifications
CA4017551 rs_199648976

4 SubmittersRCV000366386RCV001088047RCV001274736RCV004543144

NM_000288.4(PEX7):c.339+10A>G SNV
Germline
Chr6:136826479 Conflicting classifications of pathogenicity not specified
Condition: not provided
Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
Criteria Provided
Conflicting Classifications
CA4017556 rs_374668045

6 SubmittersRCV000367539RCV000726667RCV001274737RCV001521874

NM_014236.4(GNPAT):c.798A>G (p.Pro266=) SNV
Germline
Chr1:231266039 Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1451892 rs_371142386

2 SubmittersRCV000295790RCV003546501

NM_014236.4(GNPAT):c.1043A>G (p.Asn348Ser) SNV
Germline
Chr1:231266395 Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1451947 rs_201538200

3 SubmittersRCV000390788RCV001511741

NM_014236.4(GNPAT):c.1280-8G>A SNV
Germline
Chr1:231270750 Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1451994 rs_776118687

2 SubmittersRCV000326665RCV003765731

NM_014236.4(GNPAT):c.1453C>T (p.Leu485=) SNV
Germline
Chr1:231270931 Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 2
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1452026 rs_370837823

4 SubmittersRCV000387512RCV000427659RCV000757343

NM_014236.4(GNPAT):c.57C>T (p.Ser19=) SNV
Germline
Chr1:231241435 Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1451701 rs_199844062

2 SubmittersRCV000324213RCV001514804

NM_014236.4(GNPAT):c.1744-13C>T SNV
Germline
Chr1:231275208 Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1452121 rs_188474049

2 SubmittersRCV000340099RCV002059456

NM_014236.4(GNPAT):c.1890C>T (p.Asn630=) SNV
Germline
Chr1:231275451 Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1452157 rs_201916449

2 SubmittersRCV000406905RCV003556314

NM_014236.4(GNPAT):c.1522+15T>C SNV
Germline
Chr1:231271015 Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1452041 rs_200561922

2 SubmittersRCV000280211RCV003718154

NM_014236.4(GNPAT):c.1892C>T (p.Ala631Val) SNV
Germline
Chr1:231275453 Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 2
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA1452160 rs_142487190

4 SubmittersRCV001001730RCV000960456RCV002520463

NM_003659.4(AGPS):c.65C>G (p.Ala22Gly) SNV
Germline
Chr2:177392854 Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 3
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA1980002 rs_767584572

3 SubmittersRCV000400035RCV002521338

NM_003659.4(AGPS):c.637+13C>T SNV
Germline
Chr2:177437067 Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 3
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1980109 rs_182602770

4 SubmittersRCV000266679RCV000439188RCV002057609

NM_000288.4(PEX7):c.188+3A>G SNV
Germline
Chr6:136825274 Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
Condition: not provided
Intellectual disability
PEX7-related disorder
Criteria Provided
Conflicting Classifications
CA4017510 rs_200234391

7 SubmittersRCV000293982RCV000348944RCV000595599RCV001252341RCV004544665

NM_000288.4(PEX7):c.94C>T (p.Leu32=) SNV
Germline
Chr6:136822759 Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
Condition: not provided
Rhizomelic chondrodysplasia punctata
Criteria Provided
Conflicting Classifications
CA10623035 rs_886061118

4 SubmittersRCV000377520RCV001086124RCV000593941RCV001833471

NM_000288.4(PEX7):c.130+11G>T SNV
Germline
Chr6:136822806 Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 9B
Rhizomelic chondrodysplasia punctata type 1
Criteria Provided
Conflicting Classifications
CA10623037 rs_886061119

2 SubmittersRCV000279742RCV000378803

NM_000288.4(PEX7):c.130+13C>A SNV
Germline
Chr6:136822808 Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 9B
Rhizomelic chondrodysplasia punctata type 1
Criteria Provided
Conflicting Classifications
CA10623038 rs_886061120

2 SubmittersRCV000338400RCV000374317

NM_000288.4(PEX7):c.418-4G>T SNV
Germline
Chr6:136846069 Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
Condition: not provided
PEX7-related disorder
Criteria Provided
Conflicting Classifications
CA4017610 rs_199552223

6 SubmittersRCV000309986RCV001080653RCV000598492RCV004544666

NM_000288.4(PEX7):c.615C>T (p.Asp205=) SNV
Germline
Chr6:136866715 Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
not specified
Inborn genetic diseases
Condition: not provided
PEX7-related disorder
Criteria Provided
Conflicting Classifications
CA4017665 rs_147298444

11 SubmittersRCV000360999RCV000887799RCV000593142RCV002356486RCV001727703RCV004530433

NM_000288.4(PEX7):c.748-10T>C SNV
Germline
Chr6:136872188 Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
Criteria Provided
Conflicting Classifications
CA10626108 rs_886061122

2 SubmittersRCV000263734RCV000318897

NM_000288.4(PEX7):c.804-5C>T SNV
Germline
Chr6:136898137 Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 9B
Rhizomelic chondrodysplasia punctata type 1
Criteria Provided
Conflicting Classifications
CA4017778 rs_369653173

2 SubmittersRCV000293074RCV000387363

NM_000288.4(PEX7):c.*38G>A SNV
Germline
Chr6:136913564 Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 9B
Rhizomelic chondrodysplasia punctata type 1
Criteria Provided
Conflicting Classifications
CA4017823 rs_41288965

1 SubmittersRCV000340735RCV000407255

NM_000288.4(PEX7):c.*272A>G SNV
Germline
Chr6:136913798 Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
Criteria Provided
Conflicting Classifications
CA10626113 rs_186705952

1 SubmittersRCV000297765RCV000407245

NM_001351132.2(PEX5):c.1902G>A (p.Met634Ile) SNV
Germline
Chr12:7210205 Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 2A (Zellweger)
Peroxisome biogenesis disorder 2B
Rhizomelic chondrodysplasia punctata type 5
PEX5-related disorder
Criteria Provided
Conflicting Classifications
CA6426621 rs_145886418

4 SubmittersRCV000371902RCV001202630RCV003147446RCV003920292

NM_000288.4(PEX7):c.60C>G (p.Tyr20Ter) SNV
Unknown
Chr6:136822725 Likely pathogenic Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
Criteria Provided
Multiple Submitters
No Conflicts
CA16041009 rs_1057516882

2 SubmittersRCV000411102RCV004567883

NM_000288.4(PEX7):c.81C>G (p.Tyr27Ter) SNV
Unknown
Chr6:136822746 Likely pathogenic Rhizomelic chondrodysplasia punctata type 1 Criteria Provided
Single Submitter
CA16041010 rs_1057516737

1 SubmittersRCV000411754

NM_000288.4(PEX7):c.130+1G>C SNV
Unknown
Chr6:136822796 Likely pathogenic Rhizomelic chondrodysplasia punctata type 1 Criteria Provided
Single Submitter
CA16041011 rs_267608253

1 SubmittersRCV000409059

NM_000288.4(PEX7):c.277C>T (p.Gln93Ter) SNV
Germline
Chr6:136826407 Pathogenic/Likely pathogenic Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
Rhizomelic chondrodysplasia punctata
Connective tissue disorder
Phytanic acid storage disease
Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
Criteria Provided
Multiple Submitters
No Conflicts
CA4017545 rs_763514968

6 SubmittersRCV000409536RCV001387967RCV001828373RCV002278634RCV002502423

NM_000288.4(PEX7):c.334C>T (p.Gln112Ter) SNV
Germline
Chr6:136826464 Pathogenic/Likely pathogenic Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
Criteria Provided
Multiple Submitters
No Conflicts
CA16041012 rs_62653604

3 SubmittersRCV000411360RCV003475974

NM_000288.4(PEX7):c.339+2T>C SNV
Germline
Chr6:136826471 Pathogenic/Likely pathogenic Rhizomelic chondrodysplasia punctata type 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA16041013 rs_1057517059

2 SubmittersRCV000409658RCV002275036

NM_000288.4(PEX7):c.527-2A>G SNV
Unknown
Chr6:136866625 Likely pathogenic Rhizomelic chondrodysplasia punctata type 1 Criteria Provided
Single Submitter
CA16041015 rs_1057517339

1 SubmittersRCV000411178

NM_000288.4(PEX7):c.633+1G>A SNV
Germline
Chr6:136866734 Likely pathogenic Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
Criteria Provided
Multiple Submitters
No Conflicts
CA16041017 rs_1057516989

2 SubmittersRCV000411695RCV001861385

NM_000288.4(PEX7):c.748-2A>G SNV
Germline
Chr6:136872196 Likely pathogenic Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
Criteria Provided
Multiple Submitters
No Conflicts
CA16041019 rs_778862698

3 SubmittersRCV000409011RCV002523862

NM_000288.4(PEX7):c.357G>A (p.Trp119Ter) SNV
Germline
Chr6:136845632 Pathogenic Rhizomelic chondrodysplasia punctata type 1 Criteria Provided
Single Submitter
CA365856717 rs_1554331461

1 SubmittersRCV000500982

NM_000288.4(PEX7):c.641T>C (p.Leu214Pro) SNV
Germline
Chr6:136869897 Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
Criteria Provided
Conflicting Classifications
CA365763942 rs_1554333880

2 SubmittersRCV000502761RCV001865618

NM_003659.4(AGPS):c.1335C>T (p.Asp445=) SNV
Germline
Chr2:177497738 Conflicting classifications of pathogenicity Condition: not provided
Rhizomelic chondrodysplasia punctata type 3
Criteria Provided
Conflicting Classifications
CA1980295 rs_200039061

4 SubmittersRCV000595433RCV001829640

NM_000288.4(PEX7):c.695G>A (p.Arg232Gln) SNV
Germline
Chr6:136869951 Conflicting classifications of pathogenicity Condition: not provided
Phytanic acid storage disease
Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
Peroxisome biogenesis disorder 9B
Rhizomelic chondrodysplasia punctata type 1
Criteria Provided
Conflicting Classifications
CA4017697 rs_191969418

5 SubmittersRCV000591798RCV000765867RCV001081418RCV001151970

NM_014236.4(GNPAT):c.629G>A (p.Arg210Gln) SNV
Germline
Chr1:231265353 Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 2
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA1451841 rs_142283145

4 SubmittersRCV001098552RCV000969161RCV002529488

NM_000288.4(PEX7):c.189-2A>G SNV
Germline
Chr6:136826317 Likely pathogenic Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
Criteria Provided
Multiple Submitters
No Conflicts
rs_1554328952

2 SubmittersRCV000671094RCV004568540

NM_000288.4(PEX7):c.131-2A>G SNV
Unknown
Chr6:136825212 Likely pathogenic Rhizomelic chondrodysplasia punctata type 1 Criteria Provided
Single Submitter
rs_1554328790

1 SubmittersRCV000668712

NM_000288.4(PEX7):c.373G>T (p.Glu125Ter) SNV
Unknown
Chr6:136845648 Likely pathogenic Rhizomelic chondrodysplasia punctata type 1 Criteria Provided
Single Submitter
rs_769137963

1 SubmittersRCV000670069

NM_000288.4(PEX7):c.843A>G (p.Thr281=) SNV
Germline
Chr6:136898181 Conflicting classifications of pathogenicity Condition: not provided
Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
Criteria Provided
Conflicting Classifications
rs_767903764

3 SubmittersRCV000728556RCV001155829RCV001155828

NM_000288.4(PEX7):c.171G>C (p.Gly57=) SNV
Germline
Chr6:136825254 Conflicting classifications of pathogenicity Condition: not provided
Peroxisome biogenesis disorder 9B
Rhizomelic chondrodysplasia punctata
Criteria Provided
Conflicting Classifications
rs_750791932

3 SubmittersRCV000734103RCV001424832RCV001830637

NM_000288.4(PEX7):c.130+1G>A SNV
Germline
Chr6:136822796 Pathogenic Peroxisome biogenesis disorder 9B
Rhizomelic chondrodysplasia punctata type 1
Criteria Provided
Multiple Submitters
No Conflicts
rs_267608253

3 SubmittersRCV000792527RCV001004175

NM_014236.4(GNPAT):c.442C>T (p.Gln148Ter) SNV
Germline
Chr1:231262726 Likely pathogenic Rhizomelic chondrodysplasia punctata type 2 Criteria Provided
Single Submitter
rs_1571946866

1 SubmittersRCV000825526

NM_003659.4(AGPS):c.148C>T (p.Arg50Trp) SNV
Germline
Chr2:177392937 Conflicting classifications of pathogenicity Condition: not provided
Rhizomelic chondrodysplasia punctata type 3
Rhizomelic chondrodysplasia punctata
Criteria Provided
Conflicting Classifications
rs_778087162

4 SubmittersRCV000973782RCV001002207RCV001276316

NM_014236.4(GNPAT):c.65T>C (p.Val22Ala) SNV
Germline
Chr1:231241443 Conflicting classifications of pathogenicity Condition: not provided
Rhizomelic chondrodysplasia punctata type 2
Criteria Provided
Conflicting Classifications
rs_143388851

3 SubmittersRCV000888905RCV001285825

NM_014236.4(GNPAT):c.747T>C (p.Ser249=) SNV
Germline
Chr1:231265762 Conflicting classifications of pathogenicity Condition: not provided
Rhizomelic chondrodysplasia punctata type 2
Criteria Provided
Conflicting Classifications
rs_202033127

3 SubmittersRCV000902345RCV001098553

NM_003659.4(AGPS):c.1569A>G (p.Val523=) SNV
Germline
Chr2:177507993 Conflicting classifications of pathogenicity Condition: not provided
Rhizomelic chondrodysplasia punctata type 3
Criteria Provided
Conflicting Classifications
rs_150977180

2 SubmittersRCV000923796RCV001129588

NM_003659.4(AGPS):c.1519C>T (p.Leu507=) SNV
Germline
Chr2:177505549 Conflicting classifications of pathogenicity Condition: not provided
Rhizomelic chondrodysplasia punctata type 3
Criteria Provided
Conflicting Classifications
rs_761831871

2 SubmittersRCV000942265RCV001129587

NM_003659.4(AGPS):c.1908T>C (p.Phe636=) SNV
Germline
Chr2:177538126 Conflicting classifications of pathogenicity Condition: not provided
Rhizomelic chondrodysplasia punctata type 3
Criteria Provided
Conflicting Classifications
rs_765895661

2 SubmittersRCV000983172RCV001132329

NM_000288.4(PEX7):c.903+8A>G SNV
Germline
Chr6:136898249 Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 9B
Rhizomelic chondrodysplasia punctata type 1
PEX7-related disorder
Criteria Provided
Conflicting Classifications
rs_779919482

4 SubmittersRCV000978842RCV001155830RCV004543654

NM_000288.4(PEX7):c.116A>C (p.His39Pro) SNV
Germline
Chr6:136822781 Likely pathogenic Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
Criteria Provided
Multiple Submitters
No Conflicts
rs_61753237

2 SubmittersRCV001004174RCV003473544

NM_000288.4(PEX7):c.188+1G>A SNV
Germline
Chr6:136825272 Pathogenic/Likely pathogenic Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
Criteria Provided
Multiple Submitters
No Conflicts
rs_267608254

3 SubmittersRCV001004177RCV002549235

NM_000288.4(PEX7):c.592C>T (p.Gln198Ter) SNV
Germline
Chr6:136866692 Pathogenic/Likely pathogenic Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
Criteria Provided
Multiple Submitters
No Conflicts
rs_764924345

2 SubmittersRCV001004180RCV001234064

NM_000288.4(PEX7):c.128C>T (p.Ala43Val) SNV
Germline
Chr6:136822793 Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 9B
Rhizomelic chondrodysplasia punctata type 1
Connective tissue disorder
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_780369944

5 SubmittersRCV001054440RCV001274735RCV002276603RCV003339446RCV003480933

NM_014236.4(GNPAT):c.930G>A (p.Leu310=) SNV
Germline
Chr1:231266282 Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 2
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_2296166

2 SubmittersRCV001098555RCV003558663

NM_014236.4(GNPAT):c.1095T>C (p.Phe365=) SNV
Germline
Chr1:231267719 Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 2
Condition: not provided
GNPAT-related disorder
Criteria Provided
Conflicting Classifications
rs_139272614

5 SubmittersRCV001100319RCV001593267RCV003938442

NM_014236.4(GNPAT):c.1428C>T (p.Leu476=) SNV
Germline
Chr1:231270906 Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 2
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_1369256964

2 SubmittersRCV001102291RCV003736977

NM_014236.4(GNPAT):c.1713A>G (p.Gly571=) SNV
Germline
Chr1:231274032 Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 2
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_748279875

2 SubmittersRCV001096889RCV002067741

NM_003659.4(AGPS):c.64G>A (p.Ala22Thr) SNV
Germline
Chr2:177392853 Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 3
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_759572190

4 SubmittersRCV001133139RCV002556854RCV002556855

NM_003659.4(AGPS):c.1665G>A (p.Lys555=) SNV
Germline
Chr2:177513876 Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 3
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_759313804

2 SubmittersRCV001132327RCV001440144

NM_003659.4(AGPS):c.1475+12A>G SNV
Germline
Chr2:177499742 Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 3
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_375684020

2 SubmittersRCV001129586RCV002070515

NM_003659.4(AGPS):c.544C>T (p.Arg182Ter) SNV
Germline
Chr2:177436866 Pathogenic/Likely pathogenic Condition: not provided
Rhizomelic chondrodysplasia punctata type 3
Criteria Provided
Multiple Submitters
No Conflicts
rs_1686426425

2 SubmittersRCV001214616RCV003469364

NM_000288.4(PEX7):c.531T>G (p.Asp177Glu) SNV
Germline
Chr6:136866631 Likely pathogenic Intermediate form of PEX7 related rhizomelic chondrodysplasia punctata Criteria Provided
Single Submitter
rs_2115216571

1 SubmittersRCV001420996

NM_000288.4(PEX7):c.129G>C (p.Ala43=) SNV
Germline
Chr6:136822794 Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 9B
Rhizomelic chondrodysplasia punctata
Phytanic acid storage disease
Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
PEX7-related disorder
Criteria Provided
Conflicting Classifications
rs_1256466654

4 SubmittersRCV001307840RCV001835506RCV002476419RCV004545196

NM_000288.4(PEX7):c.331G>A (p.Ala111Thr) SNV
Germline
Chr6:136826461 Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 9B
Rhizomelic chondrodysplasia punctata
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_368225510

3 SubmittersRCV001324643RCV001830992RCV002456450

NM_000288.4(PEX7):c.418-3T>C SNV
Germline
Chr6:136846070 Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 9B
Rhizomelic chondrodysplasia punctata
PEX7-related disorder
Criteria Provided
Conflicting Classifications
rs_770117560

3 SubmittersRCV001343386RCV001836334RCV004531135

NM_014236.4(GNPAT):c.569-3T>G SNV
Germline
Chr1:231265290 Pathogenic Rhizomelic chondrodysplasia punctata type 2 Criteria Provided
Single Submitter
rs_745869264

3 SubmittersRCV001844353

NM_014236.4(GNPAT):c.298C>T (p.Arg100Ter) SNV
Germline
Chr1:231260543 Likely pathogenic Rhizomelic chondrodysplasia punctata type 2 Criteria Provided
Single Submitter
rs_1685194348

1 SubmittersRCV001782213

NM_000288.4(PEX7):c.376C>T (p.Gln126Ter) SNV
Germline
Chr6:136845651 Pathogenic/Likely pathogenic Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
Criteria Provided
Multiple Submitters
No Conflicts
rs_2115170536

2 SubmittersRCV001825096RCV002034680

NM_000288.4(PEX7):c.418-1G>A SNV
Germline
Chr6:136846072 Likely pathogenic Rhizomelic chondrodysplasia punctata type 1 Criteria Provided
Single Submitter
rs_773406384

1 SubmittersRCV002271879

NM_000288.4(PEX7):c.622A>T (p.Lys208Ter) SNV
Unknown
Chr6:136866722 Likely pathogenic Rhizomelic chondrodysplasia punctata type 1 Criteria Provided
Single Submitter

1 SubmittersRCV002306468

NM_000288.4(PEX7):c.463G>T (p.Glu155Ter) SNV
Unknown
Chr6:136846118 Likely pathogenic Rhizomelic chondrodysplasia punctata type 1 Criteria Provided
Single Submitter

1 SubmittersRCV002308279

NM_000288.4(PEX7):c.668T>A (p.Leu223Ter) SNV
Unknown
Chr6:136869924 Likely pathogenic Rhizomelic chondrodysplasia punctata type 1 Criteria Provided
Single Submitter

1 SubmittersRCV002306841

NM_014236.4(GNPAT):c.1158G>A (p.Trp386Ter) SNV
Germline
Chr1:231267782 Pathogenic/Likely pathogenic Condition: not provided
Rhizomelic chondrodysplasia punctata type 2
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002626102RCV004571191

NM_001351132.2(PEX5):c.147+4A>G SNV
Unknown
Chr12:7190528 Likely pathogenic Rhizomelic chondrodysplasia punctata type 5
Peroxisome biogenesis disorder 2B
Peroxisome biogenesis disorder 2A (Zellweger)
Criteria Provided
Single Submitter

1 SubmittersRCV003333369RCV003333367RCV003333368

NM_003659.4(AGPS):c.288G>A (p.Trp96Ter) SNV
Unknown
Chr2:177420296 Likely pathogenic Rhizomelic chondrodysplasia punctata type 3 Criteria Provided
Single Submitter

1 SubmittersRCV003459981

NM_003659.4(AGPS):c.1608-1G>A SNV
Unknown
Chr2:177513818 Likely pathogenic Rhizomelic chondrodysplasia punctata type 3 Criteria Provided
Single Submitter

1 SubmittersRCV003459985

NM_003659.4(AGPS):c.637+2T>A SNV
Unknown
Chr2:177437056 Likely pathogenic Rhizomelic chondrodysplasia punctata type 3 Criteria Provided
Single Submitter

1 SubmittersRCV003466240

NM_003659.4(AGPS):c.595G>T (p.Glu199Ter) SNV
Unknown
Chr2:177437012 Likely pathogenic Rhizomelic chondrodysplasia punctata type 3 Criteria Provided
Single Submitter

1 SubmittersRCV003467841

NM_003659.4(AGPS):c.562+1G>A SNV
Unknown
Chr2:177436885 Likely pathogenic Rhizomelic chondrodysplasia punctata type 3 Criteria Provided
Single Submitter

1 SubmittersRCV003459996

NM_003659.4(AGPS):c.610C>T (p.Arg204Ter) SNV
Unknown
Chr2:177437027 Likely pathogenic Rhizomelic chondrodysplasia punctata type 3 Criteria Provided
Single Submitter

1 SubmittersRCV003467859

NM_003659.4(AGPS):c.710-2A>G SNV
Unknown
Chr2:177442405 Likely pathogenic Rhizomelic chondrodysplasia punctata type 3 Criteria Provided
Single Submitter

1 SubmittersRCV003460002

NM_014236.4(GNPAT):c.1279+1G>T SNV
Unknown
Chr1:231267904 Likely pathogenic Rhizomelic chondrodysplasia punctata type 2 Criteria Provided
Single Submitter

1 SubmittersRCV003461709

NM_014236.4(GNPAT):c.913G>T (p.Glu305Ter) SNV
Unknown
Chr1:231266154 Likely pathogenic Rhizomelic chondrodysplasia punctata type 2 Criteria Provided
Single Submitter

1 SubmittersRCV003468288

NM_014236.4(GNPAT):c.180T>A (p.Tyr60Ter) SNV
Unknown
Chr1:231251062 Likely pathogenic Rhizomelic chondrodysplasia punctata type 2 Criteria Provided
Single Submitter

1 SubmittersRCV003468290

NM_014236.4(GNPAT):c.1758C>G (p.Tyr586Ter) SNV
Unknown
Chr1:231275235 Likely pathogenic Rhizomelic chondrodysplasia punctata type 2 Criteria Provided
Single Submitter

1 SubmittersRCV003468293

NM_014236.4(GNPAT):c.487C>T (p.Arg163Ter) SNV
Germline
Chr1:231262771 Pathogenic Rhizomelic chondrodysplasia punctata type 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003468294RCV003720917

NM_014236.4(GNPAT):c.1297G>T (p.Glu433Ter) SNV
Unknown
Chr1:231270775 Likely pathogenic Rhizomelic chondrodysplasia punctata type 2 Criteria Provided
Single Submitter

1 SubmittersRCV003461712

NM_014236.4(GNPAT):c.1743+1G>T SNV
Unknown
Chr1:231274063 Likely pathogenic Rhizomelic chondrodysplasia punctata type 2 Criteria Provided
Single Submitter

1 SubmittersRCV003468297

NM_003659.4(AGPS):c.505A>T (p.Lys169Ter) SNV
Unknown
Chr2:177436827 Likely pathogenic Rhizomelic chondrodysplasia punctata type 3 Criteria Provided
Single Submitter

1 SubmittersRCV004575687

NM_014236.4(GNPAT):c.256A>T (p.Lys86Ter) SNV
Unknown
Chr1:231251138 Likely pathogenic Rhizomelic chondrodysplasia punctata type 2 Criteria Provided
Single Submitter

1 SubmittersRCV004576696

NM_014236.4(GNPAT):c.805A>T (p.Lys269Ter) SNV
Unknown
Chr1:231266046 Likely pathogenic Rhizomelic chondrodysplasia punctata type 2 Criteria Provided
Single Submitter

1 SubmittersRCV004576698