Variant Info - hg38


Gene: CD68

pLI: 0.0006

Haploinsufficiency: None

Transcript: NM_001251.3

Exon: -

Intron: -

PVS1 Flowchart

Preliminary Decision Path: DUP1
  • Duplication (>=1 exon in size and must
    be completely contained within gene)
    • Proven in tandem
      • Reading frame disrupted and
        NMD predicted to occur
        • VeryStrong

Disease Mechanism

The clinical validity information for CD68is not available. See more information in ClinGen
Instead, OMIM gene-phenotype relationships are provided:
Gene Phenotype Inheritance Clinical Validity Disease Mechanism Consideration Adjusted Strength