Total 206 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
Rhizomelic chondrodysplasia punctata
Criteria Provided
Multiple Submitters
No Conflicts
CA118387 rs_121434412

3 SubmittersRCV000007025RCV006263620

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

4 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
Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
Condition: not provided
PEX7-related disorder
Peroxisome biogenesis disorder 9B
Phytanic acid storage disease
Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
Retinal disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA340698 rs_1805137

30 SubmittersRCV000008222RCV000477898RCV000339271RCV000352824RCV000380952RCV005394139RCV006253453

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
Rhizomelic chondrodysplasia punctata
Phytanic acid storage disease
Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
PEX7-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA130482 rs_121909151

12 SubmittersRCV000008223RCV000032925RCV000656252RCV001831555RCV002504768RCV004732537

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
Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
Criteria Provided
Multiple Submitters
No Conflicts
CA340700 rs_121909152

14 SubmittersRCV000008224RCV000454287RCV001509294RCV001831556RCV002512897RCV005031421

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

10 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
Condition: not provided
Rhizomelic chondrodysplasia punctata
Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
Criteria Provided
Multiple Submitters
No Conflicts
CA340702 rs_148591292

17 SubmittersRCV000008227RCV000309699RCV000388756RCV000579182RCV001027954RCV005003344

NM_000288.4(PEX7):c.345T>G (p.Tyr115Ter) SNV
Germline
Chr6:136845620 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
Retinal dystrophy
Inborn genetic diseases
Peroxisome biogenesis disorder
Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
Criteria Provided
Conflicting Classifications
CA119074 rs_267608255

13 SubmittersRCV000008229RCV000032116RCV000393497RCV000731239RCV004814859RCV005384640RCV005357095RCV005042014

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
Phytanic acid storage disease
Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
Rhizomelic chondrodysplasia punctata
Inborn genetic diseases
Condition: not provided
Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
Criteria Provided
Multiple Submitters
No Conflicts
CA119075 rs_61753238

10 SubmittersRCV000008230RCV000147254RCV000324320RCV000763558RCV001826454RCV002512898RCV003137500RCV005031422

NM_000288.4(PEX7):c.40A>C (p.Thr14Pro) SNV
Germline
Chr6:136822705 Pathogenic/Likely pathogenic Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
Criteria Provided
Multiple Submitters
No Conflicts
CA119078 rs_61753233

4 SubmittersRCV000032117RCV000008233RCV005031423

NM_001351132.2(PEX5):c.1578T>G (p.Asn526Lys) SNV
Germline
Chr12:7209700 Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 2B
Condition: not provided
Peroxisome biogenesis disorder 2A (Zellweger)
Rhizomelic chondrodysplasia punctata type 5
Criteria Provided
Multiple Submitters
No Conflicts
CA254664 rs_61752138

6 SubmittersRCV000009714RCV000427819RCV000723322RCV004813031

NM_001351132.2(PEX5):c.1279C>T (p.Arg427Ter) SNV
Germline
Chr12:7208554 Pathogenic Peroxisome biogenesis disorder 2A (Zellweger)
Condition: not provided
Peroxisome biogenesis disorder 2B
Rhizomelic chondrodysplasia punctata type 5
Peroxisome biogenesis disorder 2A (Zellweger)
Peroxisome biogenesis disorder 2B
Criteria Provided
Multiple Submitters
No Conflicts
CA120141 rs_61752137

4 SubmittersRCV000009715RCV000483391RCV001381490RCV005007835

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
CA423903281 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
CA913186009 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
Phytanic acid storage disease
Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA274207 rs_267608254

6 SubmittersRCV000169353RCV001068245RCV002485052RCV003233479

NM_000288.4(PEX7):c.400G>A (p.Asp134Asn) SNV
Germline
Chr6:136845675 Pathogenic/Likely pathogenic Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA273876 rs_764346452

3 SubmittersRCV000169000RCV003474894RCV004700520

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

8 SubmittersRCV000169479RCV000578930RCV001380052

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
Condition: not provided
Rhizomelic chondrodysplasia punctata type 2
Colon adenocarcinoma
Familial cancer of breast
Colorectal cancer
Thyroid cancer, nonmedullary, 1
Malignant tumor of esophagus
Cervical cancer
Criteria Provided
Conflicting Classifications
CA209454 rs_34613633

7 SubmittersRCV000194948RCV000757338RCV000999765RCV005892295RCV005892294RCV005892298RCV005892299RCV005892296RCV005892297

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
Rhizomelic chondrodysplasia punctata type 1
PEX7-related disorder
Inborn genetic diseases
Peroxisome biogenesis disorder 9B
Criteria Provided
Conflicting Classifications
CA4017551 rs_199648976

5 SubmittersRCV000366386RCV001274736RCV004543144RCV005452975RCV001088047

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

7 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

3 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.1892C>T (p.Ala631Val) SNV
Germline
Chr1:231275453 Conflicting classifications of pathogenicity Condition: not provided
Rhizomelic chondrodysplasia punctata type 2
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA1452160 rs_142487190

4 SubmittersRCV000960456RCV001001730RCV002520463

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

6 SubmittersRCV000377520RCV000593941RCV001086124RCV001833471RCV005384703

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
Condition: not provided
Peroxisome biogenesis disorder 9B
PEX7-related disorder
Criteria Provided
Conflicting Classifications
CA4017610 rs_199552223

6 SubmittersRCV000309986RCV000598492RCV001080653RCV004544666

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

12 SubmittersRCV000360999RCV000593142RCV000887799RCV001727703RCV002356486RCV004530433

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_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
Single Submitter
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 No Assertion Criteria Provided
CA16041010 rs_1057516737

1 SubmittersRCV000411754

NM_000288.4(PEX7):c.130+1G>C SNV
Unknown
Chr6:136822796 Likely pathogenic Rhizomelic chondrodysplasia punctata type 1 No Assertion Criteria Provided
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 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 Rhizomelic chondrodysplasia punctata type 1
Condition: not provided
Criteria Provided
Single Submitter
CA16041013 rs_1057517059

2 SubmittersRCV000409658RCV002275036

NM_000288.4(PEX7):c.527-2A>G SNV
Unknown
Chr6:136866625 Likely pathogenic Rhizomelic chondrodysplasia punctata type 1 No Assertion Criteria Provided
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
Single Submitter
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
Nonpapillary renal cell carcinoma
Criteria Provided
Multiple Submitters
No Conflicts
CA16041019 rs_778862698

4 SubmittersRCV000409011RCV002523862RCV005900634

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
not specified
Criteria Provided
Conflicting Classifications
CA365763942 rs_1554333880

3 SubmittersRCV000502761RCV001865618RCV004767315

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
PEX7-related disorder
Criteria Provided
Conflicting Classifications
CA4017697 rs_191969418

6 SubmittersRCV000591798RCV000765867RCV001081418RCV001151970RCV004732960

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

5 SubmittersRCV000969161RCV001098552RCV002529488RCV005898853

NM_001376.5(DYNC1H1):c.8200G>A (p.Val2734Met) SNV
Germline
Chr14:102018473 Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided
Inborn genetic diseases
Rhizomelic chondrodysplasia punctata type 5
Asphyxiating thoracic dystrophy 3
Criteria Provided
Conflicting Classifications
CA7352972 rs_376679623

4 SubmittersRCV000649563RCV001091158RCV002424511RCV004813129RCV005860121

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
Single Submitter
CA365855702 rs_1554328952

2 SubmittersRCV000671094RCV004568540

NM_000288.4(PEX7):c.131-2A>G SNV
Unknown
Chr6:136825212 Likely pathogenic Rhizomelic chondrodysplasia punctata type 1 No Assertion Criteria Provided
CA365855570 rs_1554328790

1 SubmittersRCV000668712

NM_000288.4(PEX7):c.373G>T (p.Glu125Ter) SNV
Unknown
Chr6:136845648 Likely pathogenic Rhizomelic chondrodysplasia punctata type 1 No Assertion Criteria Provided
CA365856787 rs_769137963

1 SubmittersRCV000670069

NM_000288.4(PEX7):c.843A>G (p.Thr281=) SNV
Germline
Chr6:136898181 Conflicting classifications of pathogenicity Condition: not provided
Peroxisome biogenesis disorder 9B
Rhizomelic chondrodysplasia punctata type 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA4017781 rs_767903764

4 SubmittersRCV000728556RCV001155828RCV001155829RCV004958063

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
CA4017506 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
CA148640691 rs_267608253

4 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
CA345231817 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
CA1980012 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
CA1451705 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
CA1451875 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
CA1980374 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
CA1980352 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
CA1980467 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
CA4017789 rs_779919482

4 SubmittersRCV000978842RCV001155830RCV004543654

NM_000288.4(PEX7):c.116A>C (p.His39Pro) SNV
Germline
Chr6:136822781 Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
not specified
Criteria Provided
Conflicting Classifications
CA148640686 rs_61753237

3 SubmittersRCV001004174RCV003473544RCV004702573

NM_000288.4(PEX7):c.188+1G>A SNV
Germline
Chr6:136825272 Pathogenic/Likely pathogenic Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
Peroxisome biogenesis disorder 9B
Rhizomelic chondrodysplasia punctata type 1
Rhizomelic chondrodysplasia punctata
Criteria Provided
Multiple Submitters
No Conflicts
CA148641045 rs_267608254

5 SubmittersRCV001004177RCV002549235RCV005036272RCV005606748

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
CA4017662 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
PEX7-related disorder
Criteria Provided
Conflicting Classifications
CA4017486 rs_780369944

6 SubmittersRCV001054440RCV001274735RCV002276603RCV003339446RCV003480933RCV004733131

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
CA1451930 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
CA1451973 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
CA423903377 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
CA1452097 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
CA1980001 rs_759572190

5 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
CA1980399 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
CA1980334 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
CA349702403 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
CA365762800 rs_2115216571

1 SubmittersRCV001420996

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
CA4017554 rs_368225510

3 SubmittersRCV001324643RCV001830992RCV002456450

NM_014236.4(GNPAT):c.569-3T>G SNV
Germline
Chr1:231265290 Pathogenic Rhizomelic chondrodysplasia punctata type 2 Criteria Provided
Single Submitter
CA2573051514 rs_745869264

2 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
CA345231395 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
Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
Rhizomelic chondrodysplasia punctata
Criteria Provided
Multiple Submitters
No Conflicts
CA365856801 rs_2115170536

4 SubmittersRCV001825096RCV002034680RCV005038348RCV005606974

NM_001351132.2(PEX5):c.1258C>T (p.Arg420Ter) SNV
Germline
Chr12:7208533 Pathogenic Peroxisome biogenesis disorder 2B
Peroxisome biogenesis disorder 2B
Peroxisome biogenesis disorder 2A (Zellweger)
Rhizomelic chondrodysplasia punctata type 5
Criteria Provided
Multiple Submitters
No Conflicts
CA6426409 rs_777735499

2 SubmittersRCV002037839RCV005006310

NM_000288.4(PEX7):c.418-1G>A SNV
Germline
Chr6:136846072 Likely pathogenic Rhizomelic chondrodysplasia punctata type 1 Criteria Provided
Single Submitter
CA4017614 rs_773406384

1 SubmittersRCV002271879

NM_001351132.2(PEX5):c.552G>A (p.Trp184Ter) SNV
Germline
Chr12:7201751 Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 2B
Peroxisome biogenesis disorder 2B
Rhizomelic chondrodysplasia punctata type 5
Peroxisome biogenesis disorder 2A (Zellweger)
Criteria Provided
Multiple Submitters
No Conflicts
CA383721040 rs_1419213790

3 SubmittersRCV002273017RCV005002815

NM_000288.4(PEX7):c.622A>T (p.Lys208Ter) SNV
Unknown
Chr6:136866722 Likely pathogenic Rhizomelic chondrodysplasia punctata type 1 Criteria Provided
Single Submitter
CA365763181 rs_1478244495

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
CA365857171 rs_2548082672

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
CA365763996 rs_2548095371

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
CA345235788 rs_1283169932

2 SubmittersRCV002626102RCV004571191

NM_003659.4(AGPS):c.1204G>A (p.Val402Ile) SNV
Germline
Chr2:177482157 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Rhizomelic chondrodysplasia punctata type 3
Criteria Provided
Conflicting Classifications
CA1980240 rs_201282509

3 SubmittersRCV002963257RCV004978420RCV005233048

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
CA6426010 rs_749342175

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
CA349701346 rs_1685908703

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
CA349371001 rs_2468138852

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
CA349702634 rs_2468548491

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
CA349702534 rs_2468548402

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
CA349702445 rs_1686427549

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
CA349702570 rs_1345538545

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
CA349702971 rs_2468557012

1 SubmittersRCV003460002

NM_000288.4(PEX7):c.803+1G>A SNV
Germline
Chr6:136872254 Likely pathogenic Peroxisome biogenesis disorder 9B
Peroxisome biogenesis disorder 9B
Rhizomelic chondrodysplasia punctata type 1
Criteria Provided
Multiple Submitters
No Conflicts
CA365764500 rs_2548096639

2 SubmittersRCV003476865RCV005036817

NM_014236.4(GNPAT):c.1279+1G>T SNV
Unknown
Chr1:231267904 Likely pathogenic Rhizomelic chondrodysplasia punctata type 2 Criteria Provided
Single Submitter
CA345236192 rs_1185964193

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
CA345234397 rs_2527024941

1 SubmittersRCV003468288

NM_014236.4(GNPAT):c.180T>A (p.Tyr60Ter) SNV
Germline
Chr1:231251062 Pathogenic/Likely pathogenic Rhizomelic chondrodysplasia punctata type 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA345230093 rs_775397251

2 SubmittersRCV003468290RCV005100171

NM_014236.4(GNPAT):c.1758C>G (p.Tyr586Ter) SNV
Unknown
Chr1:231275235 Likely pathogenic Rhizomelic chondrodysplasia punctata type 2 Criteria Provided
Single Submitter
CA345239789 rs_2527047139

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
CA1451807 rs_781300183

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
CA345236918 rs_1685540239

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
CA345239673 rs_2527044612

1 SubmittersRCV003468297

NM_001351132.2(PEX5):c.967-1G>A SNV
Germline
Chr12:7207658 Likely pathogenic Peroxisome biogenesis disorder 2B
Peroxisome biogenesis disorder 2B
Peroxisome biogenesis disorder 2A (Zellweger)
Rhizomelic chondrodysplasia punctata type 5
Criteria Provided
Multiple Submitters
No Conflicts
CA383729672 rs_2136226194

2 SubmittersRCV003603416RCV005013082

NM_001351132.2(PEX5):c.1578T>A (p.Asn526Lys) SNV
Germline
Chr12:7209700 Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 2B
Peroxisome biogenesis disorder
Peroxisome biogenesis disorder 2B
Rhizomelic chondrodysplasia punctata type 5
Peroxisome biogenesis disorder 2A (Zellweger)
Criteria Provided
Multiple Submitters
No Conflicts
CA383737743 rs_61752138

3 SubmittersRCV003839293RCV004587570RCV005013232

NM_003659.4(AGPS):c.505A>T (p.Lys169Ter) SNV
Unknown
Chr2:177436827 Likely pathogenic Rhizomelic chondrodysplasia punctata type 3 Criteria Provided
Single Submitter
rs_2468547973

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
rs_2526991704

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
rs_2527024491

1 SubmittersRCV004576698

NM_000288.4(PEX7):c.283T>G (p.Trp95Gly) SNV
Germline
Chr6:136826413 Pathogenic Rhizomelic chondrodysplasia punctata type 1
Rhizomelic chondrodysplasia punctata type 1
Peroxisome biogenesis disorder 9B
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004689492RCV005038781

NM_001351132.2(PEX5):c.1296C>G (p.Tyr432Ter) SNV
Germline
Chr12:7208571 Likely pathogenic Peroxisome biogenesis disorder 2A (Zellweger)
Rhizomelic chondrodysplasia punctata type 5
Peroxisome biogenesis disorder 2B
Criteria Provided
Single Submitter

1 SubmittersRCV005011579

NM_000288.4(PEX7):c.398G>A (p.Trp133Ter) SNV
Germline
Chr6:136845673 Likely pathogenic Peroxisome biogenesis disorder 9B
Rhizomelic chondrodysplasia punctata type 1
Criteria Provided
Single Submitter

1 SubmittersRCV005037977

NM_000288.4(PEX7):c.903+2T>G SNV
Germline
Chr6:136898243 Pathogenic Rhizomelic chondrodysplasia punctata No Assertion Criteria Provided

1 SubmittersRCV005611452

NM_014236.4(GNPAT):c.1602+1G>A SNV
Germline
Chr1:231272392 Pathogenic Rhizomelic chondrodysplasia punctata type 2 Criteria Provided
Single Submitter

1 SubmittersRCV005859638

NM_003659.4(AGPS):c.638-1G>A SNV
Germline
Chr2:177440964 Pathogenic Rhizomelic chondrodysplasia punctata type 3 Criteria Provided
Single Submitter

1 SubmittersRCV005884153

NM_001351132.2(PEX5):c.653T>C (p.Phe218Ser) SNV
Germline
Chr12:7202251 Pathogenic Rhizomelic chondrodysplasia punctata type 5 Criteria Provided
Single Submitter

1 SubmittersRCV006255276