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  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features
    1
    1. ClingenBaseline 24 Oct 2026
      c.6879 T

      Case#: ATM02_V-3

      Demographics: Male, 18 yrs at report

      CasePresentingHPOs: HP:0000752, HP:0001581

      CaseNotHPOs:

      CasePreviousTesting:

      CaseMethod1:

      CaseMethod2:

      CaseGenotypingMethod:

      Variant: NM_017890.4:c.6879delT

      ClinVar:

      CAID: CA4824093

      gnomAD:

      VariantEvidence: This variant has been reported in two apparently unrelated families of common ethnicity, and therefore likely founder mutation. Hence, the score is reduced from default.

      CaseAddInfo:

      CasePMIDs:

      CaseInfo ATM02_V-3 inferred_gene_hgnc:2183 inferred_gene_source:CAID UNC Biocuration Core
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    ncbi.nlm.nih.gov/pmc/articles/PMC4631108/