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Gene entry

NIPBL

NIPBL cohesin loading factor

Chromosome
5
Cytoband
5p13.2
Variants (rsID)
51

NIPBL is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 5 (region 5p13.2). Its official name is “NIPBL cohesin loading factor”. The reference table lists 51 variants (rsID) for this gene.

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Clinically classified variants

40 reference-table entries with clinical significance.

  • rs2291703Benignsingle nucleotide variantCornelia de Lange syndrome 1
  • rs3822471Benignsingle nucleotide variantCornelia de Lange syndrome 1|History of neurodevelopmental disorder
  • rs80358354Benignsingle nucleotide variantCornelia de Lange syndrome 1|History of neurodevelopmental disorder
  • rs140021654Conflicting interpretationssingle nucleotide variantCornelia de Lange syndrome 1
  • rs147054690Conflicting interpretationssingle nucleotide variantCornelia de Lange syndrome 1
  • rs150678035Conflicting interpretationssingle nucleotide variantCornelia de Lange syndrome 1
  • rs185678374Conflicting interpretationssingle nucleotide variantCornelia de Lange syndrome 1|History of neurodevelopmental disorder
  • rs190086412Conflicting interpretationssingle nucleotide variantCornelia de Lange syndrome 1
  • rs571024836Conflicting interpretationssingle nucleotide variantCornelia de Lange syndrome 1
  • rs587784006Conflicting interpretationssingle nucleotide variantCornelia de Lange syndrome 1
  • rs80358359Conflicting interpretationssingle nucleotide variantCornelia de Lange syndrome 1
  • rs80358378Conflicting interpretationssingle nucleotide variantCornelia de Lange syndrome 1
  • rs80358380Conflicting interpretationssingle nucleotide variantCornelia de Lange syndrome 1
  • rs80358356Likely pathogenicsingle nucleotide variantCornelia de Lange syndrome 1
  • rs80358366Likely pathogenicsingle nucleotide variantCornelia de Lange syndrome 1
  • rs80358373Likely pathogenicsingle nucleotide variantCornelia de Lange syndrome 1
  • rs80358384Likely pathogenicsingle nucleotide variantCornelia de Lange syndrome 1
  • rs121918267Pathogenicsingle nucleotide variantCornelia de Lange syndrome 1
  • rs121918269Pathogenicsingle nucleotide variantCornelia de Lange syndrome 1
  • rs398124465PathogenicDeletionCornelia de Lange syndrome 1
  • rs587783914PathogenicMicrosatelliteCornelia de Lange syndrome 1
  • rs587783978Pathogenicsingle nucleotide variantCornelia de Lange syndrome 1
  • rs62654864Pathogenicsingle nucleotide variantCornelia de Lange syndrome 1
  • rs727503769Pathogenicsingle nucleotide variantCornelia de Lange syndrome 1
  • rs77632238Pathogenicsingle nucleotide variantCornelia de Lange syndrome 1
  • rs80358360Pathogenicsingle nucleotide variantCornelia de Lange syndrome 1
  • rs80358361PathogenicDeletionCornelia de Lange syndrome 1
  • rs80358362Pathogenicsingle nucleotide variantCornelia de Lange syndrome 1
  • rs80358363Pathogenicsingle nucleotide variantCornelia de Lange syndrome 1
  • rs80358364PathogenicDeletionCornelia de Lange syndrome 1
  • rs80358367Pathogenicsingle nucleotide variantCornelia de Lange syndrome 1
  • rs80358368PathogenicDeletionCornelia de Lange syndrome 1
  • rs80358369Pathogenicsingle nucleotide variantCornelia de Lange syndrome 1
  • rs80358370Pathogenicsingle nucleotide variantCornelia de Lange syndrome 1|Abnormality of brain morphology
  • rs80358371PathogenicDuplicationCornelia de Lange syndrome 1
  • rs80358372PathogenicMicrosatelliteCornelia de Lange syndrome 1
  • rs80358375Pathogenicsingle nucleotide variantCornelia de Lange syndrome 1
  • rs80358376Pathogenicsingle nucleotide variantCornelia de Lange syndrome 1
  • rs80358382PathogenicMicrosatelliteCornelia de Lange syndrome 1
  • rs80358386PathogenicDeletionCornelia de Lange syndrome 1

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.