Datasets:

SkyWhal3
/

PEX10-RAG-Nemotron

Error code:   DatasetGenerationError
Exception:    CastError
Message:      Couldn't cast
gene: string
build_session: string
build_date: timestamp[s]
embedder: string
embedding_dim: int64
collection_name: string
paper_count: int64
chunk_count: int64
curated_count: int64
curated_by_source: struct<clinvar: int64, consequence_card: int64, esmfold_report: int64>
  child 0, clinvar: int64
  child 1, consequence_card: int64
  child 2, esmfold_report: int64
build_elapsed_s: double
device: string
chunking: struct<target_chars: int64, overlap_chars: int64, min_chars: int64>
  child 0, target_chars: int64
  child 1, overlap_chars: int64
  child 2, min_chars: int64
sources: struct<pmc_corpus: string, clinvar_master_csv: string, truncation_cards: string, esmfold_reports: st (... 5 chars omitted)
  child 0, pmc_corpus: string
  child 1, clinvar_master_csv: string
  child 2, truncation_cards: string
  child 3, esmfold_reports: string
to
{'id': Value('string'), 'title': Value('string'), 'text': Value('string'), 'source': Value('string'), 'category': Value('string'), 'variation_id': Value('string'), 'classification': Value('string')}
because column names don't match
Traceback:    Traceback (most recent call last):
                File "/usr/local/lib/python3.12/site-packages/datasets/builder.py", line 1821, in _prepare_split_single
                  num_examples, num_bytes = writer.finalize()
                                            ^^^^^^^^^^^^^^^^^
                File "/usr/local/lib/python3.12/site-packages/datasets/arrow_writer.py", line 781, in finalize
                  self.write_rows_on_file()
                File "/usr/local/lib/python3.12/site-packages/datasets/arrow_writer.py", line 663, in write_rows_on_file
                  self._write_table(table)
                File "/usr/local/lib/python3.12/site-packages/datasets/arrow_writer.py", line 773, in _write_table
                  pa_table = table_cast(pa_table, self._schema)
                             ^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^
                File "/usr/local/lib/python3.12/site-packages/datasets/table.py", line 2281, in table_cast
                  return cast_table_to_schema(table, schema)
                         ^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^
                File "/usr/local/lib/python3.12/site-packages/datasets/table.py", line 2227, in cast_table_to_schema
                  raise CastError(
              datasets.table.CastError: Couldn't cast
              gene: string
              build_session: string
              build_date: timestamp[s]
              embedder: string
              embedding_dim: int64
              collection_name: string
              paper_count: int64
              chunk_count: int64
              curated_count: int64
              curated_by_source: struct<clinvar: int64, consequence_card: int64, esmfold_report: int64>
                child 0, clinvar: int64
                child 1, consequence_card: int64
                child 2, esmfold_report: int64
              build_elapsed_s: double
              device: string
              chunking: struct<target_chars: int64, overlap_chars: int64, min_chars: int64>
                child 0, target_chars: int64
                child 1, overlap_chars: int64
                child 2, min_chars: int64
              sources: struct<pmc_corpus: string, clinvar_master_csv: string, truncation_cards: string, esmfold_reports: st (... 5 chars omitted)
                child 0, pmc_corpus: string
                child 1, clinvar_master_csv: string
                child 2, truncation_cards: string
                child 3, esmfold_reports: string
              to
              {'id': Value('string'), 'title': Value('string'), 'text': Value('string'), 'source': Value('string'), 'category': Value('string'), 'variation_id': Value('string'), 'classification': Value('string')}
              because column names don't match
              
              The above exception was the direct cause of the following exception:
              
              Traceback (most recent call last):
                File "/src/services/worker/src/worker/job_runners/config/parquet_and_info.py", line 1347, in compute_config_parquet_and_info_response
                  parquet_operations = convert_to_parquet(builder)
                                       ^^^^^^^^^^^^^^^^^^^^^^^^^^^
                File "/src/services/worker/src/worker/job_runners/config/parquet_and_info.py", line 980, in convert_to_parquet
                  builder.download_and_prepare(
                File "/usr/local/lib/python3.12/site-packages/datasets/builder.py", line 882, in download_and_prepare
                  self._download_and_prepare(
                File "/usr/local/lib/python3.12/site-packages/datasets/builder.py", line 943, in _download_and_prepare
                  self._prepare_split(split_generator, **prepare_split_kwargs)
                File "/usr/local/lib/python3.12/site-packages/datasets/builder.py", line 1646, in _prepare_split
                  for job_id, done, content in self._prepare_split_single(
                                               ^^^^^^^^^^^^^^^^^^^^^^^^^^^
                File "/usr/local/lib/python3.12/site-packages/datasets/builder.py", line 1832, in _prepare_split_single
                  raise DatasetGenerationError("An error occurred while generating the dataset") from e
              datasets.exceptions.DatasetGenerationError: An error occurred while generating the dataset

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id string	title string	text string	source string	category string	variation_id string	classification string
clinvar_4816953	ClinVar PEX10 variant c.776+1G>T	ClinVar variant VCVVCV004816953 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.776+1G>T. Variant type: single nucleotide variant. Germline classification: Likely pathogenic. Review status: criteria provided, single submitter. Associated condition(s): Zellweger spectrum disorders. PEX1...	clinvar	variant_evidence	4816953	Likely pathogenic
clinvar_4816952	ClinVar PEX10 variant p.Leu25fs	ClinVar variant VCVVCV004816952 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.74_78delinsA. Protein change: p.Leu25fs. Variant type: Indel. Germline classification: Likely pathogenic. Review status: criteria provided, single submitter. Associated condition(s): Zellweger spectrum diso...	clinvar	variant_evidence	4816952	Likely pathogenic
clinvar_4816951	ClinVar PEX10 variant c.601-5T>A	ClinVar variant VCVVCV004816951 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.601-5T>A. Variant type: single nucleotide variant. Germline classification: Likely pathogenic. Review status: criteria provided, single submitter. Associated condition(s): Zellweger spectrum disorders. PEX1...	clinvar	variant_evidence	4816951	Likely pathogenic
clinvar_4816950	ClinVar PEX10 variant p.Tyr20Ter	ClinVar variant VCVVCV004816950 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.60C>A. Protein change: p.Tyr20Ter. Variant type: single nucleotide variant. Germline classification: Likely pathogenic. Review status: criteria provided, single submitter. Associated condition(s): Zellweger...	clinvar	variant_evidence	4816950	Likely pathogenic
clinvar_4816949	ClinVar PEX10 variant p.Tyr189Ter	ClinVar variant VCVVCV004816949 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.567C>A. Protein change: p.Tyr189Ter. Variant type: single nucleotide variant. Germline classification: Likely pathogenic. Review status: criteria provided, single submitter. Associated condition(s): Zellweg...	clinvar	variant_evidence	4816949	Likely pathogenic
clinvar_4816948	ClinVar PEX10 variant p.Arg176fs	ClinVar variant VCVVCV004816948 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.526del. Protein change: p.Arg176fs. Variant type: Deletion. Germline classification: Likely pathogenic. Review status: criteria provided, single submitter. Associated condition(s): Zellweger spectrum disord...	clinvar	variant_evidence	4816948	Likely pathogenic
clinvar_4816947	ClinVar PEX10 variant p.Ala172fs	ClinVar variant VCVVCV004816947 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.514dup. Protein change: p.Ala172fs. Variant type: Duplication. Germline classification: Likely pathogenic. Review status: criteria provided, single submitter. Associated condition(s): Zellweger spectrum dis...	clinvar	variant_evidence	4816947	Likely pathogenic
clinvar_4816946	ClinVar PEX10 variant p.Pro8fs	ClinVar variant VCVVCV004816946 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.22_28delinsACCTGCGCCGCC. Protein change: p.Pro8fs. Variant type: Indel. Germline classification: Likely pathogenic. Review status: criteria provided, single submitter. Associated condition(s): Zellweger spe...	clinvar	variant_evidence	4816946	Likely pathogenic
clinvar_4816945	ClinVar PEX10 variant p.Ala5fs	ClinVar variant VCVVCV004816945 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.13del. Protein change: p.Ala5fs. Variant type: Deletion. Germline classification: Likely pathogenic. Review status: criteria provided, single submitter. Associated condition(s): Zellweger spectrum disorders...	clinvar	variant_evidence	4816945	Likely pathogenic
clinvar_4812251	ClinVar PEX10 variant c.776+13del	ClinVar variant VCVVCV004812251 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.776+13del. Variant type: Deletion. Germline classification: Benign. Review status: criteria provided, single submitter. Associated condition(s): Peroxisome biogenesis disorder, complementation group 7. PEX1...	clinvar	variant_evidence	4812251	Benign
clinvar_4804155	ClinVar PEX10 variant c.112+10G>A	ClinVar variant VCVVCV004804155 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.112+10G>A. Variant type: single nucleotide variant. Germline classification: Likely benign. Review status: criteria provided, single submitter. Associated condition(s): Peroxisome biogenesis disorder, compl...	clinvar	variant_evidence	4804155	Likely benign
clinvar_4804074	ClinVar PEX10 variant p.Gly208fs	ClinVar variant VCVVCV004804074 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.621dup. Protein change: p.Gly208fs. Variant type: Duplication. Germline classification: Pathogenic. Review status: criteria provided, single submitter. Associated condition(s): Peroxisome biogenesis disorde...	clinvar	variant_evidence	4804074	Pathogenic
clinvar_4781222	ClinVar PEX10 variant c.601-58G>A	ClinVar variant VCVVCV004781222 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.601-58G>A. Variant type: single nucleotide variant. Germline classification: Likely benign. Review status: criteria provided, single submitter. Associated condition(s): Peroxisome biogenesis disorder, compl...	clinvar	variant_evidence	4781222	Likely benign
clinvar_4771203	ClinVar PEX10 variant c.112+19C>T	ClinVar variant VCVVCV004771203 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.112+19C>T. Variant type: single nucleotide variant. Germline classification: Likely benign. Review status: criteria provided, single submitter. Associated condition(s): Peroxisome biogenesis disorder, compl...	clinvar	variant_evidence	4771203	Likely benign
clinvar_4749263	ClinVar PEX10 variant c.776+13dup	ClinVar variant VCVVCV004749263 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.776+13dup. Variant type: Duplication. Germline classification: Benign. Review status: criteria provided, single submitter. Associated condition(s): Peroxisome biogenesis disorder, complementation group 7. P...	clinvar	variant_evidence	4749263	Benign
clinvar_4748745	ClinVar PEX10 variant c.913-17dup	ClinVar variant VCVVCV004748745 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.913-17dup. Variant type: Duplication. Germline classification: Benign. Review status: criteria provided, single submitter. Associated condition(s): Peroxisome biogenesis disorder, complementation group 7. P...	clinvar	variant_evidence	4748745	Benign
clinvar_4737514	ClinVar PEX10 variant p.Ser256Pro	ClinVar variant VCVVCV004737514 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.766T>C. Protein change: p.Ser256Pro. Variant type: single nucleotide variant. Germline classification: Uncertain significance. Review status: criteria provided, single submitter. Associated condition(s): Pe...	clinvar	variant_evidence	4737514	Uncertain significance
clinvar_4735021	ClinVar PEX10 variant p.Leu110=	ClinVar variant VCVVCV004735021 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.330G>A. Protein change: p.Leu110=. Variant type: single nucleotide variant. Germline classification: Likely benign. Review status: criteria provided, single submitter. Associated condition(s): Peroxisome bi...	clinvar	variant_evidence	4735021	Likely benign
clinvar_4733763	ClinVar PEX10 variant p.Lys193=	ClinVar variant VCVVCV004733763 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.579G>A. Protein change: p.Lys193=. Variant type: single nucleotide variant. Germline classification: Likely benign. Review status: criteria provided, single submitter. Associated condition(s): Peroxisome bi...	clinvar	variant_evidence	4733763	Likely benign
clinvar_4730554	ClinVar PEX10 variant p.Arg326=	ClinVar variant VCVVCV004730554 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.978C>A. Protein change: p.Arg326=. Variant type: single nucleotide variant. Germline classification: Likely benign. Review status: criteria provided, single submitter. Associated condition(s): Peroxisome bi...	clinvar	variant_evidence	4730554	Likely benign
clinvar_4725743	ClinVar PEX10 variant p.Arg258=	ClinVar variant VCVVCV004725743 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.774C>T. Protein change: p.Arg258=. Variant type: single nucleotide variant. Germline classification: Likely benign. Review status: criteria provided, single submitter. Associated condition(s): Peroxisome bi...	clinvar	variant_evidence	4725743	Likely benign
clinvar_4724531	ClinVar PEX10 variant p.Leu69=	ClinVar variant VCVVCV004724531 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.207G>A. Protein change: p.Leu69=. Variant type: single nucleotide variant. Germline classification: Likely benign. Review status: criteria provided, single submitter. Associated condition(s): Peroxisome bio...	clinvar	variant_evidence	4724531	Likely benign
clinvar_4710149	ClinVar PEX10 variant p.Pro112=	ClinVar variant VCVVCV004710149 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.336C>G. Protein change: p.Pro112=. Variant type: single nucleotide variant. Germline classification: Likely benign. Review status: criteria provided, single submitter. Associated condition(s): Peroxisome bi...	clinvar	variant_evidence	4710149	Likely benign
clinvar_4693099	ClinVar PEX10 variant c.776+14C>T	ClinVar variant VCVVCV004693099 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.776+14C>T. Variant type: single nucleotide variant. Germline classification: Likely benign. Review status: criteria provided, single submitter. Associated condition(s): Peroxisome biogenesis disorder, compl...	clinvar	variant_evidence	4693099	Likely benign
clinvar_4693098	ClinVar PEX10 variant c.776+15_776+33del	ClinVar variant VCVVCV004693098 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.776+15_776+33del. Variant type: Deletion. Germline classification: Uncertain significance. Review status: criteria provided, single submitter. Associated condition(s): Peroxisome biogenesis disorder, comple...	clinvar	variant_evidence	4693098	Uncertain significance
clinvar_4683450	ClinVar PEX10 variant c.-23C>T	ClinVar variant VCVVCV004683450 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.-23C>T. Variant type: single nucleotide variant. Germline classification: Likely benign. Review status: criteria provided, single submitter. Associated condition(s): not provided. PEX10 is part of the perox...	clinvar	variant_evidence	4683450	Likely benign
clinvar_4627282	ClinVar PEX10 variant p.His85Tyr	ClinVar variant VCVVCV004627282 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.253C>T. Protein change: p.His85Tyr. Variant type: single nucleotide variant. Germline classification: Uncertain significance. Review status: criteria provided, single submitter. Associated condition(s): Inb...	clinvar	variant_evidence	4627282	Uncertain significance
clinvar_4627281	ClinVar PEX10 variant p.Ser82Trp	ClinVar variant VCVVCV004627281 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.245C>G. Protein change: p.Ser82Trp. Variant type: single nucleotide variant. Germline classification: Uncertain significance. Review status: criteria provided, single submitter. Associated condition(s): Inb...	clinvar	variant_evidence	4627281	Uncertain significance
clinvar_4387075	ClinVar PEX10 variant c.112+2T>G	ClinVar variant VCVVCV004387075 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.112+2T>G. Variant type: single nucleotide variant. PEX10 is part of the peroxisomal Pex2-Pex10-Pex12 retrotranslocation complex. Loss-of-function variants cause peroxisome biogenesis disorder type 6 (Zellwe...	clinvar	variant_evidence	4387075
clinvar_4387065	ClinVar PEX10 variant c.112+4A>G	ClinVar variant VCVVCV004387065 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.112+4A>G. Variant type: single nucleotide variant. PEX10 is part of the peroxisomal Pex2-Pex10-Pex12 retrotranslocation complex. Loss-of-function variants cause peroxisome biogenesis disorder type 6 (Zellwe...	clinvar	variant_evidence	4387065
clinvar_4387037	ClinVar PEX10 variant c.113-10C>G	ClinVar variant VCVVCV004387037 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.113-10C>G. Variant type: single nucleotide variant. PEX10 is part of the peroxisomal Pex2-Pex10-Pex12 retrotranslocation complex. Loss-of-function variants cause peroxisome biogenesis disorder type 6 (Zellw...	clinvar	variant_evidence	4387037
clinvar_4386731	ClinVar PEX10 variant c.601-80T>A	ClinVar variant VCVVCV004386731 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.601-80T>A. Variant type: single nucleotide variant. PEX10 is part of the peroxisomal Pex2-Pex10-Pex12 retrotranslocation complex. Loss-of-function variants cause peroxisome biogenesis disorder type 6 (Zellw...	clinvar	variant_evidence	4386731
clinvar_4386721	ClinVar PEX10 variant c.601-70A>T	ClinVar variant VCVVCV004386721 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.601-70A>T. Variant type: single nucleotide variant. PEX10 is part of the peroxisomal Pex2-Pex10-Pex12 retrotranslocation complex. Loss-of-function variants cause peroxisome biogenesis disorder type 6 (Zellw...	clinvar	variant_evidence	4386721
clinvar_4279487	ClinVar PEX10 variant GRCh37/hg19 1p36.33-36.32(chr1:2176852-2841962)x1	ClinVar variant VCVVCV004279487 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: GRCh37/hg19 1p36.33-36.32(chr1:2176852-2841962)x1. Variant type: copy number loss. Germline classification: Uncertain significance. Review status: criteria provided, single submitter. Associated condition(s):...	clinvar	variant_evidence	4279487	Uncertain significance
clinvar_4134871	ClinVar PEX10 variant p.Leu98Pro	ClinVar variant VCVVCV004134871 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.293T>C. Protein change: p.Leu98Pro. Variant type: single nucleotide variant. Germline classification: Uncertain significance. Review status: criteria provided, single submitter. Associated condition(s): Inb...	clinvar	variant_evidence	4134871	Uncertain significance
clinvar_4134870	ClinVar PEX10 variant p.His257Tyr	ClinVar variant VCVVCV004134870 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.769C>T. Protein change: p.His257Tyr. Variant type: single nucleotide variant. Germline classification: Uncertain significance. Review status: criteria provided, single submitter. Associated condition(s): In...	clinvar	variant_evidence	4134870	Uncertain significance
clinvar_4134869	ClinVar PEX10 variant p.Glu10Gln	ClinVar variant VCVVCV004134869 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.28G>C. Protein change: p.Glu10Gln. Variant type: single nucleotide variant. Germline classification: Uncertain significance. Review status: criteria provided, single submitter. Associated condition(s): Inbo...	clinvar	variant_evidence	4134869	Uncertain significance
clinvar_4081764	ClinVar PEX10 variant p.Asn270fs	ClinVar variant VCVVCV004081764 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.809delinsCT. Protein change: p.Asn270fs. Variant type: Indel. Germline classification: Pathogenic. Review status: criteria provided, single submitter. Associated condition(s): Peroxisome biogenesis disorder...	clinvar	variant_evidence	4081764	Pathogenic
clinvar_4081763	ClinVar PEX10 variant p.Asn270fs	ClinVar variant VCVVCV004081763 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.807_834del. Protein change: p.Asn270fs. Variant type: Deletion. Germline classification: Pathogenic. Review status: criteria provided, single submitter. Associated condition(s): Peroxisome biogenesis disord...	clinvar	variant_evidence	4081763	Pathogenic
clinvar_4079522	ClinVar PEX10 variant p.Pro3Thr	ClinVar variant VCVVCV004079522 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.7C>A. Protein change: p.Pro3Thr. Variant type: single nucleotide variant. Germline classification: Uncertain significance. Review status: criteria provided, single submitter. Associated condition(s): not pr...	clinvar	variant_evidence	4079522	Uncertain significance
clinvar_4059609	ClinVar PEX10 variant p.Leu319_Ile320insArgHis	ClinVar variant VCVVCV004059609 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.956_957insTCGGCA. Protein change: p.Leu319_Ile320insArgHis. Variant type: Insertion. Germline classification: Uncertain significance. Review status: no assertion criteria provided. Associated condition(s): ...	clinvar	variant_evidence	4059609	Uncertain significance
clinvar_4059608	ClinVar PEX10 variant p.Pro133Ser	ClinVar variant VCVVCV004059608 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.397C>T. Protein change: p.Pro133Ser. Variant type: single nucleotide variant. Germline classification: Uncertain significance. Review status: no assertion criteria provided. Associated condition(s): Zellweg...	clinvar	variant_evidence	4059608	Uncertain significance
clinvar_4059606	ClinVar PEX10 variant c.777-9C>T	ClinVar variant VCVVCV004059606 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.777-9C>T. Variant type: single nucleotide variant. Germline classification: Uncertain significance. Review status: no assertion criteria provided. Associated condition(s): Zellweger spectrum disorders. PEX1...	clinvar	variant_evidence	4059606	Uncertain significance
clinvar_4059605	ClinVar PEX10 variant p.Asp54Gly	ClinVar variant VCVVCV004059605 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.161A>G. Protein change: p.Asp54Gly. Variant type: single nucleotide variant. Germline classification: Uncertain significance. Review status: no assertion criteria provided. Associated condition(s): Zellwege...	clinvar	variant_evidence	4059605	Uncertain significance
clinvar_4059604	ClinVar PEX10 variant p.Val229Ala	ClinVar variant VCVVCV004059604 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.686T>C. Protein change: p.Val229Ala. Variant type: single nucleotide variant. Germline classification: Uncertain significance. Review status: no assertion criteria provided. Associated condition(s): Zellweg...	clinvar	variant_evidence	4059604	Uncertain significance
clinvar_4059603	ClinVar PEX10 variant c.776+5G>T	ClinVar variant VCVVCV004059603 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.776+5G>T. Variant type: single nucleotide variant. Germline classification: Uncertain significance. Review status: no assertion criteria provided. Associated condition(s): Zellweger spectrum disorders. PEX1...	clinvar	variant_evidence	4059603	Uncertain significance
clinvar_4059602	ClinVar PEX10 variant c.601-48C>T	ClinVar variant VCVVCV004059602 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.601-48C>T. Variant type: single nucleotide variant. Germline classification: Uncertain significance. Review status: no assertion criteria provided. Associated condition(s): Zellweger spectrum disorders. PEX...	clinvar	variant_evidence	4059602	Uncertain significance
clinvar_4059601	ClinVar PEX10 variant p.Ala260Thr	ClinVar variant VCVVCV004059601 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.778G>A. Protein change: p.Ala260Thr. Variant type: single nucleotide variant. Germline classification: Uncertain significance. Review status: no assertion criteria provided. Associated condition(s): Zellweg...	clinvar	variant_evidence	4059601	Uncertain significance
clinvar_4059600	ClinVar PEX10 variant p.Thr199Ala	ClinVar variant VCVVCV004059600 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.595A>G. Protein change: p.Thr199Ala. Variant type: single nucleotide variant. Germline classification: Uncertain significance. Review status: no assertion criteria provided. Associated condition(s): Zellweg...	clinvar	variant_evidence	4059600	Uncertain significance
clinvar_4059599	ClinVar PEX10 variant p.Tyr104Phe	ClinVar variant VCVVCV004059599 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.311A>T. Protein change: p.Tyr104Phe. Variant type: single nucleotide variant. Germline classification: Uncertain significance. Review status: no assertion criteria provided. Associated condition(s): Zellweg...	clinvar	variant_evidence	4059599	Uncertain significance
clinvar_4059598	ClinVar PEX10 variant p.His99Gln	ClinVar variant VCVVCV004059598 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.297T>A. Protein change: p.His99Gln. Variant type: single nucleotide variant. Germline classification: Uncertain significance. Review status: no assertion criteria provided. Associated condition(s): Zellwege...	clinvar	variant_evidence	4059598	Uncertain significance
clinvar_4059597	ClinVar PEX10 variant p.Cys173=	ClinVar variant VCVVCV004059597 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.519C>T. Protein change: p.Cys173=. Variant type: single nucleotide variant. Germline classification: Uncertain significance. Review status: no assertion criteria provided. Associated condition(s): Zellweger...	clinvar	variant_evidence	4059597	Uncertain significance
clinvar_4059596	ClinVar PEX10 variant c.-6G>T	ClinVar variant VCVVCV004059596 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.-6G>T. Variant type: single nucleotide variant. Germline classification: Uncertain significance. Review status: no assertion criteria provided. Associated condition(s): Zellweger spectrum disorders. PEX10 i...	clinvar	variant_evidence	4059596	Uncertain significance
clinvar_4059595	ClinVar PEX10 variant c.777-6C>T	ClinVar variant VCVVCV004059595 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.777-6C>T. Variant type: single nucleotide variant. Germline classification: Uncertain significance. Review status: no assertion criteria provided. Associated condition(s): Zellweger spectrum disorders. PEX1...	clinvar	variant_evidence	4059595	Uncertain significance
clinvar_4059594	ClinVar PEX10 variant p.Gly254=	ClinVar variant VCVVCV004059594 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.762C>G. Protein change: p.Gly254=. Variant type: single nucleotide variant. Germline classification: Uncertain significance. Review status: no assertion criteria provided. Associated condition(s): Zellweger...	clinvar	variant_evidence	4059594	Uncertain significance
clinvar_4059593	ClinVar PEX10 variant p.Leu171Val	ClinVar variant VCVVCV004059593 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.511C>G. Protein change: p.Leu171Val. Variant type: single nucleotide variant. Germline classification: Uncertain significance. Review status: no assertion criteria provided. Associated condition(s): Zellweg...	clinvar	variant_evidence	4059593	Uncertain significance
clinvar_4059592	ClinVar PEX10 variant c.193+6A>C	ClinVar variant VCVVCV004059592 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.193+6A>C. Variant type: single nucleotide variant. Germline classification: Uncertain significance. Review status: no assertion criteria provided. Associated condition(s): Zellweger spectrum disorders. PEX1...	clinvar	variant_evidence	4059592	Uncertain significance
clinvar_4059591	ClinVar PEX10 variant p.Arg280Ser	ClinVar variant VCVVCV004059591 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.838C>A. Protein change: p.Arg280Ser. Variant type: single nucleotide variant. Germline classification: Uncertain significance. Review status: no assertion criteria provided. Associated condition(s): Zellweg...	clinvar	variant_evidence	4059591	Uncertain significance
clinvar_4059589	ClinVar PEX10 variant c.601-41C>T	ClinVar variant VCVVCV004059589 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.601-41C>T. Variant type: single nucleotide variant. Germline classification: Uncertain significance. Review status: no assertion criteria provided. Associated condition(s): Zellweger spectrum disorders. PEX...	clinvar	variant_evidence	4059589	Uncertain significance
clinvar_4059588	ClinVar PEX10 variant p.Arg168Gly	ClinVar variant VCVVCV004059588 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.502A>G. Protein change: p.Arg168Gly. Variant type: single nucleotide variant. Germline classification: Uncertain significance. Review status: criteria provided, single submitter. Associated condition(s): In...	clinvar	variant_evidence	4059588	Uncertain significance
clinvar_4059587	ClinVar PEX10 variant p.Gly233=	ClinVar variant VCVVCV004059587 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.699G>A. Protein change: p.Gly233=. Variant type: single nucleotide variant. Germline classification: Uncertain significance. Review status: no assertion criteria provided. Associated condition(s): Zellweger...	clinvar	variant_evidence	4059587	Uncertain significance
clinvar_4059586	ClinVar PEX10 variant c.913-9T>G	ClinVar variant VCVVCV004059586 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.913-9T>G. Variant type: single nucleotide variant. Germline classification: Uncertain significance. Review status: no assertion criteria provided. Associated condition(s): Zellweger spectrum disorders. PEX1...	clinvar	variant_evidence	4059586	Uncertain significance
clinvar_3930926	ClinVar PEX10 variant p.Val96Leu	ClinVar variant VCVVCV003930926 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.286G>T. Protein change: p.Val96Leu. Variant type: single nucleotide variant. Germline classification: Uncertain significance. Review status: criteria provided, single submitter. Associated condition(s): Inb...	clinvar	variant_evidence	3930926	Uncertain significance
clinvar_3930924	ClinVar PEX10 variant p.Val222Ile	ClinVar variant VCVVCV003930924 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.664G>A. Protein change: p.Val222Ile. Variant type: single nucleotide variant. Germline classification: Uncertain significance. Review status: criteria provided, single submitter. Associated condition(s): In...	clinvar	variant_evidence	3930924	Uncertain significance
clinvar_3930923	ClinVar PEX10 variant p.Arg13His	ClinVar variant VCVVCV003930923 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.38G>A. Protein change: p.Arg13His. Variant type: single nucleotide variant. Germline classification: Uncertain significance. Review status: criteria provided, single submitter. Associated condition(s): Inbo...	clinvar	variant_evidence	3930923	Uncertain significance
clinvar_3930922	ClinVar PEX10 variant p.Phe239Cys	ClinVar variant VCVVCV003930922 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.716T>G. Protein change: p.Phe239Cys. Variant type: single nucleotide variant. Germline classification: Uncertain significance. Review status: criteria provided, single submitter. Associated condition(s): In...	clinvar	variant_evidence	3930922	Uncertain significance
clinvar_3902300	ClinVar PEX10 variant p.Cys307Tyr	ClinVar variant VCVVCV003902300 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.920G>A. Protein change: p.Cys307Tyr. Variant type: single nucleotide variant. Germline classification: Uncertain significance. Review status: criteria provided, single submitter. Associated condition(s): no...	clinvar	variant_evidence	3902300	Uncertain significance
clinvar_3705279	ClinVar PEX10 variant p.Val222Phe	ClinVar variant VCVVCV003705279 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.664G>T. Protein change: p.Val222Phe. Variant type: single nucleotide variant. Germline classification: Uncertain significance. Review status: criteria provided, single submitter. Associated condition(s): Pe...	clinvar	variant_evidence	3705279	Uncertain significance
clinvar_3702199	ClinVar PEX10 variant p.Leu272fs	ClinVar variant VCVVCV003702199 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.814_815insG. Protein change: p.Leu272fs. Variant type: Insertion. Germline classification: Pathogenic/Likely pathogenic. Review status: criteria provided, multiple submitters, no conflicts. Associated condi...	clinvar	variant_evidence	3702199	Pathogenic/Likely pathogenic
clinvar_3691904	ClinVar PEX10 variant p.Glu72Lys	ClinVar variant VCVVCV003691904 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.214G>A. Protein change: p.Glu72Lys. Variant type: single nucleotide variant. Germline classification: Uncertain significance. Review status: criteria provided, single submitter. Associated condition(s): Per...	clinvar	variant_evidence	3691904	Uncertain significance
clinvar_3684982	ClinVar PEX10 variant c.194-17C>T	ClinVar variant VCVVCV003684982 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.194-17C>T. Variant type: single nucleotide variant. Germline classification: Likely benign. Review status: criteria provided, single submitter. Associated condition(s): Peroxisome biogenesis disorder, compl...	clinvar	variant_evidence	3684982	Likely benign
clinvar_3680886	ClinVar PEX10 variant c.912+16G>A	ClinVar variant VCVVCV003680886 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.912+16G>A. Variant type: single nucleotide variant. Germline classification: Likely benign. Review status: criteria provided, single submitter. Associated condition(s): Peroxisome biogenesis disorder, compl...	clinvar	variant_evidence	3680886	Likely benign
clinvar_3674950	ClinVar PEX10 variant p.Arg265fs	ClinVar variant VCVVCV003674950 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.794_807del. Protein change: p.Arg265fs. Variant type: Deletion. Germline classification: Pathogenic/Likely pathogenic. Review status: criteria provided, multiple submitters, no conflicts. Associated conditi...	clinvar	variant_evidence	3674950	Pathogenic/Likely pathogenic
clinvar_3671443	ClinVar PEX10 variant c.777-17T>C	ClinVar variant VCVVCV003671443 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.777-17T>C. Variant type: single nucleotide variant. Germline classification: Likely benign. Review status: criteria provided, single submitter. Associated condition(s): Peroxisome biogenesis disorder, compl...	clinvar	variant_evidence	3671443	Likely benign
clinvar_3669367	ClinVar PEX10 variant p.Gly59=	ClinVar variant VCVVCV003669367 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.177C>A. Protein change: p.Gly59=. Variant type: single nucleotide variant. Germline classification: Likely benign. Review status: criteria provided, single submitter. Associated condition(s): Peroxisome bio...	clinvar	variant_evidence	3669367	Likely benign
clinvar_3667808	ClinVar PEX10 variant p.Gln128=	ClinVar variant VCVVCV003667808 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.384G>A. Protein change: p.Gln128=. Variant type: single nucleotide variant. Germline classification: Likely benign. Review status: criteria provided, single submitter. Associated condition(s): Peroxisome bi...	clinvar	variant_evidence	3667808	Likely benign
clinvar_3655566	ClinVar PEX10 variant p.Arg157=	ClinVar variant VCVVCV003655566 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.471G>A. Protein change: p.Arg157=. Variant type: single nucleotide variant. Germline classification: Likely benign. Review status: criteria provided, single submitter. Associated condition(s): Peroxisome bi...	clinvar	variant_evidence	3655566	Likely benign
clinvar_3654198	ClinVar PEX10 variant p.Glu19Ter	ClinVar variant VCVVCV003654198 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.55G>T. Protein change: p.Glu19Ter. Variant type: single nucleotide variant. Germline classification: Pathogenic. Review status: criteria provided, single submitter. Associated condition(s): Peroxisome bioge...	clinvar	variant_evidence	3654198	Pathogenic
clinvar_3639380	ClinVar PEX10 variant p.Leu225=	ClinVar variant VCVVCV003639380 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.673C>T. Protein change: p.Leu225=. Variant type: single nucleotide variant. Germline classification: Likely benign. Review status: criteria provided, single submitter. Associated condition(s): Peroxisome bi...	clinvar	variant_evidence	3639380	Likely benign
clinvar_3631129	ClinVar PEX10 variant p.Ser231=	ClinVar variant VCVVCV003631129 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.693C>G. Protein change: p.Ser231=. Variant type: single nucleotide variant. Germline classification: Likely benign. Review status: criteria provided, single submitter. Associated condition(s): Peroxisome bi...	clinvar	variant_evidence	3631129	Likely benign
clinvar_3630403	ClinVar PEX10 variant c.194-15T>G	ClinVar variant VCVVCV003630403 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.194-15T>G. Variant type: single nucleotide variant. Germline classification: Likely benign. Review status: criteria provided, single submitter. Associated condition(s): Peroxisome biogenesis disorder, compl...	clinvar	variant_evidence	3630403	Likely benign
clinvar_3620049	ClinVar PEX10 variant p.Arg13=	ClinVar variant VCVVCV003620049 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.39C>T. Protein change: p.Arg13=. Variant type: single nucleotide variant. Germline classification: Likely benign. Review status: criteria provided, single submitter. Associated condition(s): Peroxisome biog...	clinvar	variant_evidence	3620049	Likely benign
clinvar_3417076	ClinVar PEX10 variant p.His85Arg	ClinVar variant VCVVCV003417076 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.254A>G. Protein change: p.His85Arg. Variant type: single nucleotide variant. Germline classification: Likely benign. Review status: criteria provided, single submitter. Associated condition(s): Inborn genet...	clinvar	variant_evidence	3417076	Likely benign
clinvar_3391839	ClinVar PEX10 variant GRCh37/hg19 1p36.33-36.32(chr1:849467-3153423)x3	ClinVar variant VCVVCV003391839 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: GRCh37/hg19 1p36.33-36.32(chr1:849467-3153423)x3. Variant type: copy number gain. Germline classification: Pathogenic. Review status: criteria provided, single submitter. Associated condition(s): not provided...	clinvar	variant_evidence	3391839	Pathogenic
clinvar_3382522	ClinVar PEX10 variant p.Gly70Glu	ClinVar variant VCVVCV003382522 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.209G>A. Protein change: p.Gly70Glu. Variant type: single nucleotide variant. Germline classification: Pathogenic. Review status: criteria provided, single submitter. Associated condition(s): Peroxisome biog...	clinvar	variant_evidence	3382522	Pathogenic
clinvar_3370422	ClinVar PEX10 variant c.194-2A>G	ClinVar variant VCVVCV003370422 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.194-2A>G. Variant type: single nucleotide variant. Germline classification: Likely pathogenic. Review status: criteria provided, single submitter. Associated condition(s): Zellweger spectrum disorders. PEX1...	clinvar	variant_evidence	3370422	Likely pathogenic
clinvar_3370421	ClinVar PEX10 variant c.194-1G>A	ClinVar variant VCVVCV003370421 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.194-1G>A. Variant type: single nucleotide variant. Germline classification: Likely pathogenic. Review status: no assertion criteria provided. Associated condition(s): Peroxisome biogenesis disorder 6A (Zell...	clinvar	variant_evidence	3370421	Likely pathogenic
clinvar_3349918	ClinVar PEX10 variant p.Leu105=	ClinVar variant VCVVCV003349918 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.315G>A. Protein change: p.Leu105=. Variant type: single nucleotide variant. Germline classification: Likely benign. Review status: criteria provided, single submitter. Associated condition(s): Peroxisome bi...	clinvar	variant_evidence	3349918	Likely benign
clinvar_3346235	ClinVar PEX10 variant c.193+6A>G	ClinVar variant VCVVCV003346235 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.193+6A>G. Variant type: single nucleotide variant. Germline classification: Likely benign. Review status: no assertion criteria provided. Associated condition(s): PEX10-related disorder. PEX10 is part of th...	clinvar	variant_evidence	3346235	Likely benign
clinvar_3339304	ClinVar PEX10 variant p.Asp120Gly	ClinVar variant VCVVCV003339304 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.359A>G. Protein change: p.Asp120Gly. Variant type: single nucleotide variant. Germline classification: Uncertain significance. Review status: criteria provided, single submitter. Associated condition(s): no...	clinvar	variant_evidence	3339304	Uncertain significance
clinvar_3336181	ClinVar PEX10 variant p.Met1Ile	ClinVar variant VCVVCV003336181 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.3G>C. Protein change: p.Met1Ile. Variant type: single nucleotide variant. Germline classification: Pathogenic/Likely pathogenic. Review status: criteria provided, multiple submitters, no conflicts. Associat...	clinvar	variant_evidence	3336181	Pathogenic/Likely pathogenic
clinvar_3305830	ClinVar PEX10 variant p.His178Tyr	ClinVar variant VCVVCV003305830 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.532C>T. Protein change: p.His178Tyr. Variant type: single nucleotide variant. Germline classification: Uncertain significance. Review status: criteria provided, single submitter. Associated condition(s): In...	clinvar	variant_evidence	3305830	Uncertain significance
clinvar_3305829	ClinVar PEX10 variant p.Asp80Glu	ClinVar variant VCVVCV003305829 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.240C>A. Protein change: p.Asp80Glu. Variant type: single nucleotide variant. Germline classification: Uncertain significance. Review status: criteria provided, single submitter. Associated condition(s): Inb...	clinvar	variant_evidence	3305829	Uncertain significance
clinvar_3247933	ClinVar PEX10 variant NC_000001.10:g.(?_1718770)_(2343941_?)del	ClinVar variant VCVVCV003247933 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: NC_000001.10:g.(?_1718770)_(2343941_?)del. Variant type: Deletion. Germline classification: Pathogenic. Review status: criteria provided, single submitter. Associated condition(s): not provided. PEX10 is part...	clinvar	variant_evidence	3247933	Pathogenic
clinvar_3247906	ClinVar PEX10 variant NC_000001.10:g.(?_1470739)_(3768971_?)dup	ClinVar variant VCVVCV003247906 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: NC_000001.10:g.(?_1470739)_(3768971_?)dup. Variant type: Duplication. Germline classification: Uncertain significance. Review status: criteria provided, single submitter. Associated condition(s): not provided...	clinvar	variant_evidence	3247906	Uncertain significance
clinvar_3247775	ClinVar PEX10 variant NC_000001.10:g.(?_2337205)_(2341910_?)del	ClinVar variant VCVVCV003247775 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: NC_000001.10:g.(?_2337205)_(2341910_?)del. Variant type: Deletion. Germline classification: Pathogenic. Review status: criteria provided, single submitter. Associated condition(s): Peroxisome biogenesis disor...	clinvar	variant_evidence	3247775	Pathogenic
clinvar_3247774	ClinVar PEX10 variant NC_000001.10:g.(?_2343810)_(2343941_?)del	ClinVar variant VCVVCV003247774 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: NC_000001.10:g.(?_2343810)_(2343941_?)del. Variant type: Deletion. Germline classification: Pathogenic. Review status: criteria provided, single submitter. Associated condition(s): Peroxisome biogenesis disor...	clinvar	variant_evidence	3247774	Pathogenic
clinvar_3247720	ClinVar PEX10 variant NC_000001.10:g.(?_1146935)_(3768971_?)del	ClinVar variant VCVVCV003247720 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: NC_000001.10:g.(?_1146935)_(3768971_?)del. Variant type: Deletion. Germline classification: Uncertain significance. Review status: criteria provided, single submitter. Associated condition(s): Shprintzen-Gold...	clinvar	variant_evidence	3247720	Uncertain significance
clinvar_3240083	ClinVar PEX10 variant p.Val222fs	ClinVar variant VCVVCV003240083 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.663_664del. Protein change: p.Val222fs. Variant type: Deletion. Germline classification: Likely pathogenic. Review status: criteria provided, single submitter. Associated condition(s): Peroxisome biogenesis...	clinvar	variant_evidence	3240083	Likely pathogenic
clinvar_3240082	ClinVar PEX10 variant c.913-1G>A	ClinVar variant VCVVCV003240082 in PEX10 (peroxisomal biogenesis factor 10, UniProt O60683). Nucleotide change: c.913-1G>A. Variant type: single nucleotide variant. Germline classification: Likely pathogenic. Review status: criteria provided, multiple submitters, no conflicts. Associated condition(s): Peroxisome biogen...	clinvar	variant_evidence	3240082	Likely pathogenic

End of preview.

🧬⚡ PEX10-ARIA RAG Database v1 — NVIDIA Nemotron Embeddings

The definitive retrieval corpus for PEX10 / peroxisomal biogenesis disorder research.

A pre-built ChromaDB vector database containing: 98,734 indexed text chunks from 835 curated PubMed Central (PMC) biomedical papers + 1,495 structured curated entries (1,016 ClinVar variants + 198 truncation consequence cards + 281 ESMFold variant structural analyses), embedded with NVIDIA's state-of-the-art Llama-Nemotron-Embed-1B-v2 model featuring 2048-dimensional embeddings.

⚡ This is the premium GPU-accelerated version — Nemotron embeddings deliver maximum semantic precision for rare-disease therapeutic queries, but require a GPU with 2-4GB VRAM. For a lightweight CPU-friendly alternative, see: PEX10-RAG-Database (BGE)

🌐 Part of the ARIA Rare-Disease Family

This is the third gene in the ARIA rare-disease RAG family. Same architecture, same discipline, same embedder across all three:

Gene	Built For	Papers	Chunks	Dataset
STXBP1	Katelyn Freygang	~17,000	571,816	STXBP1-RAG-Nemotron
SNAP25	SNAP25 Foundation	~2,000	76,592	SNAP25-RAG-Nemotron
PEX10	PBD Project	835	98,734	(this dataset)

PMC literature + ClinVar variants + structural analyses + expert curation, all in one queryable ChromaDB.

🧬 About PEX10

Gene: PEX10 (also known as RNF69, Peroxin 10, Peroxisomal Biogenesis Factor 10) Protein: 346 aa (RefSeq NP_722540.1, NM_153818.2) · UniProt O60683 Function: C3HC4-type RING finger E3 ubiquitin ligase integral to the peroxisomal membrane. Forms the Pex2-Pex10-Pex12 retrotranslocation channel essential for PEX5 receptor recycling and peroxisome matrix protein import. Disease: PEX10-related Zellweger Spectrum Disorder (PBD6A/6B, MONDO:0100079, OMIM:614870). Approximately 3% of all peroxisome biogenesis disorder cases.

Why this dataset exists

The 2022 Nature paper "A peroxisomal ubiquitin ligase complex forms a retrotranslocation channel" (Feng et al., PubMed 35768507) established the mechanistic story of the Pex2-Pex10-Pex12 complex as a channel that extracts PEX5 back out of the peroxisomal membrane. That gave PEX10 a concrete structural framework for interpreting where variants may matter. This corpus consolidates the evidence so it can be queried in one place.

📊 Dataset Statistics

Metric	Value
Paper Chunks	98,734
Source Papers	835 PMC articles (relevance ≥ 15)
ClinVar Variants	1,016
Truncation Consequence Cards	198
ESMFold Structural Reports	281
Total Indexed Items	100,229
Database Size	~400-600 MB
Embedding Model	`nvidia/llama-nemotron-embed-1b-v2`
Embedding Dimensions	2048
Model Parameters	1B
Chunk Size	~1,800 chars with 200-char overlap
Index Type	ChromaDB with HNSW (cosine)
Build Time	31 minutes on consumer GPU 3080 12GiB
Build Date	April 23, 2026

🏆 Why Nemotron?

NVIDIA's Llama-Nemotron-Embed-1B-v2 ranks #2 on MTEB retrieval benchmarks — distilled from the 8B flagship into an efficient 1B parameter model. For rare-disease work, the 2048-dim semantic space makes fine-grained distinctions that matter:

"RING-HC zinc-coordinating cysteine" vs "transmembrane helix disruption" → clear separation
"PEX10 nonsense variant" vs "PEX10 missense variant" → distinct clusters
"Zellweger severe" vs "cerebellar ataxia milder form" → phenotype-aware retrieval
"Pex2-Pex10-Pex12 retrotranslocon" vs "PEX5 receptor recycling" → mechanism-level routing

Feature	BGE (sibling dataset)	Nemotron (this dataset)
Embedding Dims	768	2048 ⬆️ 2.7×
Model Params	110M	1B ⬆️ 9×
Semantic Precision	Good	Excellent
Hardware	CPU OK	GPU recommended

📚 Corpus Composition

1. PMC Literature (98,734 chunks)

Harvested via SkyWhal3/PMC-Corpus-Harvester with gene-specific scoring and exclude-terms for every non-PEX10 peroxin (PEX1, 2, 3, 5, 6, 7, 11, 12, 13, 14, 16, 19, 26 — the "secret sauce" that keeps PEX10-centric papers near the top without cross-family contamination).

Keyword families:

Primary: pex10, rnf69, peroxin-10, peroxisome biogenesis, zellweger, pbd-zsd
Mechanism: Pex2-Pex10-Pex12, retrotranslocation, RING finger, PEX5 recycling, PTS1 import
Disease phenotype: neonatal hypotonia, sensorineural hearing loss, cerebellar ataxia, VLCFA, plasmalogen
Therapeutics: gene therapy, CRISPR, base editing, ASO, readthrough

2. ClinVar Variant Records (1,016 curated entries)

Every ClinVar record for the PEX10 gene as of April 22, 2026. Each entry includes:

variation_id + accession (VCV)
HGVS c. and p. notation
Germline classification (187 Pathogenic + 53 Likely Pathogenic + 345 VUS + 326 LB + 22 Benign + 33 Conflicting + 36 P/LP + others)
Review status + evaluation date
Associated conditions (from ClinVar TraitSet)
Variation type (749 SNVs + 88 deletions + 106 copy-number-loss + others)

3. Truncation Consequence Cards (198 entries)

Nonsense + frameshift + canonical splice variants, with a structured JSON card per variant describing:

Truncation position (first residue lost)
Domain it falls in (using 346-aa RefSeq frame)
Domains lost downstream (full vs partial)
Topology disruption call in plain English
% protein lost quick-read metric

Truncated proteins are deliberately not modeled — ESMFold and OpenFold3 predictions on truncated sequences are known to produce misleadingly confident fold predictions. Consequence cards are more honest.

4. ESMFold Variant Structural Reports (281 entries)

Every foldable missense variant from ClinVar, run through ESMFold via NVIDIA NIM. Each report includes:

Per-residue pLDDT
Local Cα-Cα contact map around the mutation site (WT and mutant)
Delta contacts (gained, lost, net change)
Mean pLDDT + site pLDDT
Original classification + condition

Isoform handling: PEX10 has a 20-aa segment at positions ~200-220 present in NCBI isoform 1 (NP_722540.1, 346 aa, used by ClinVar) but absent from UniProt canonical (NP_002608.1, 326 aa). 104 of the 281 variants were originally reported on the 326-aa frame; they were remapped to the 346-aa frame via +20 shift with WT-residue verification. Every remapped variant carries an isoform2_mapping.json audit trail. 96.4% structural coverage of the foldable set.

🚀 Quick Start

Load in Python

from huggingface_hub import snapshot_download
import chromadb
from chromadb.config import Settings

# Download database (one-time, ~500 MB)
db_path = snapshot_download(
    repo_id="SkyWhal3/PEX10-RAG-Nemotron",
    repo_type="dataset"
)

client = chromadb.PersistentClient(
    path=db_path,
    settings=Settings(anonymized_telemetry=False)
)

collection = client.get_collection("pex10_papers")
print(f"Loaded {collection.count():,} chunks")

Query with Nemotron Embeddings

from sentence_transformers import SentenceTransformer

# Load embedder (GPU recommended, CPU works for a handful of queries)
embedder = SentenceTransformer(
    "nvidia/llama-nemotron-embed-1b-v2",
    trust_remote_code=True
)

# Ask a question
query = "What is the role of the RING-HC domain in PEX10-mediated PEX5 recycling?"
query_embedding = embedder.encode(query).tolist()

results = collection.query(
    query_embeddings=[query_embedding],
    n_results=10,
    include=["documents", "metadatas", "distances"]
)

for doc, meta, dist in zip(
    results['documents'][0],
    results['metadatas'][0],
    results['distances'][0]
):
    src = meta.get('source', 'unknown')
    label = meta.get('pmcid') or meta.get('variation_id') or 'curated'
    print(f"[{src} · {label}] (distance: {dist:.3f})")
    print(f"{doc[:200]}...\n")

Combined Literature + Variant Query

Because ClinVar records, consequence cards, ESMFold reports, and paper chunks all share the same embedding space, one query retrieves across all four sources:

query = "PEX10 RING domain cysteine mutations that disrupt zinc coordination"
# Returns: relevant PMC paper chunks + ClinVar C306Y/C306F entries + ESMFold reports for those specific variants

That cross-source retrieval is what makes this corpus more queryable than any single database alone.

🧠 ARIA Family Navigator Integration

This dataset is the canonical RAG backend for the PEX10 / PBD Research knowledge base chip in ARIA Family Navigator. When a family has a PEX10 profile, the chip auto-enables in Research Mode and rag_search queries route to this corpus.

Config (from src/shared/rag-config.ts):

{
  id: 'pex10',
  displayName: 'PEX10 / PBD Research',
  hfDatasetId: 'SkyWhal3/PEX10-RAG-Nemotron',
  collectionName: 'pex10_papers',
  defaultForGenes: ['PEX10', 'PEX-10', 'RNF69'],
  embeddingModel: 'nvidia/llama-nemotron-embed-1b-v2',
  embeddingDim: 2048,
}

🔗 Related Resources

Resource	Link
CPU Version (BGE)	PEX10-RAG-Database
Harvester Tool	PMC-Corpus-Harvester
STXBP1 RAG (sibling)	STXBP1-RAG-Nemotron
SNAP25 RAG (sibling)	SNAP25-RAG-Nemotron
ARIA Family Navigator	aria-app.webflow.io

📁 Files

File	Description
`chroma.sqlite3`	ChromaDB metadata + document store
`{uuid}/data_level0.bin`	HNSW vector index
`{uuid}/header.bin`	Index metadata
`{uuid}/length.bin`	Vector dimensions
`curated_entries.json`	ClinVar + truncation + ESMFold entries (for transparency; already embedded)
`metadata.json`	Build provenance + chunking parameters + source paths
`README.md`	This file

🧬 The Story Behind This Dataset

Built by Adam Freygang — AI/ML engineer, STXBP1 parent, maker of the ARIA Family Navigator. This is the third rare-disease corpus I've published under the same architecture. The first was for my daughter Katelyn (STXBP1). The second was at the request of the SNAP25 Foundation. This one is for the PBD Project — Andrew Longenecker's son Diego has PEX10-related peroxisomal biogenesis disorder, and I built this corpus in a single night so our meeting the next morning wouldn't start from zero.

The pitch is not "we found secret PEX10 facts nobody can access." The pitch is: "We assembled a consolidated, queryable PEX10 knowledge-and-structure atlas that most research groups do not currently have in one interoperable package — combining literature, variant evidence, structural modeling, membrane topology interpretation, and variant-level exports that can extend into a live research tool."

If your family or foundation has a rare disease and this platform would help you, reach out. Each new gene takes ~1 day of compute time once the template is in place.

📜 License

Apache 2.0. Use freely. Attribution requested.

🙏 Acknowledgments

Andrew Longenecker (PBD Project)
Lior Dior
NVIDIA — for Nemotron embeddings and NIM API access
The PEX10 research community — especially the Feng et al. 2022 team whose mechanistic Nature paper gave this corpus its structural backbone

📄 Citation

@dataset{pex10_rag_nemotron_2026,
  author = {Freygang, Adam},
  title = {PEX10-ARIA RAG Database v1: Nemotron-Embedded Biomedical Literature + ClinVar + Structural Analysis for PBD Research},
  year = {2026},
  publisher = {HuggingFace},
  url = {https://huggingface.co/datasets/SkyWhal3/PEX10-RAG-Nemotron}
}

Built with ❤️ for the PBD community.

Last Updated: April 23, 2026

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