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Gene entry

SH3TC2

SH3 domain and tetratricopeptide repeats 2

Chromosome
5
Cytoband
5q32
Variants (rsID)
50

SH3TC2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 5 (region 5q32). Its official name is “SH3 domain and tetratricopeptide repeats 2”. The reference table lists 50 variants (rsID) for this gene.

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Clinically classified variants

34 reference-table entries with clinical significance.

  • rs112507765Benignsingle nucleotide variantSusceptibility to mononeuropathy of the median nerve, mild|Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease type 4C|Charcot-Marie-Tooth disease
  • rs115577291Benignsingle nucleotide variantCharcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease type 4C|Susceptibility to mononeuropathy of the median nerve, mild|Charcot-Marie-Tooth disease
  • rs117804174Benignsingle nucleotide variantSusceptibility to mononeuropathy of the median nerve, mild|Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease type 4C|Charcot-Marie-Tooth disease
  • rs13359285Benignsingle nucleotide variantSusceptibility to mononeuropathy of the median nerve, mild|Charcot-Marie-Tooth disease type 4C
  • rs141289653Benignsingle nucleotide variantSusceptibility to mononeuropathy of the median nerve, mild|Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease type 4C|Charcot-Marie-Tooth disease
  • rs17722293Benignsingle nucleotide variantSusceptibility to mononeuropathy of the median nerve, mild|Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease type 4C|Charcot-Marie-Tooth disease
  • rs17795193Benignsingle nucleotide variantCharcot-Marie-Tooth disease type 4|Susceptibility to mononeuropathy of the median nerve, mild|Charcot-Marie-Tooth disease type 4C|Charcot-Marie-Tooth disease
  • rs193067884Benignsingle nucleotide variantSusceptibility to mononeuropathy of the median nerve, mild|Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease type 4C|Charcot-Marie-Tooth disease
  • rs55853803Benignsingle nucleotide variantCharcot-Marie-Tooth disease type 4|Susceptibility to mononeuropathy of the median nerve, mild|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease type 4C
  • rs6875902Benignsingle nucleotide variantSusceptibility to mononeuropathy of the median nerve, mild|Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease type 4C|Charcot-Marie-Tooth disease
  • rs76488338Benignsingle nucleotide variantSusceptibility to mononeuropathy of the median nerve, mild|Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease type 4C
  • rs76955068Benignsingle nucleotide variantCharcot-Marie-Tooth disease type 4C|Susceptibility to mononeuropathy of the median nerve, mild
  • rs139192433Conflicting interpretationssingle nucleotide variantSusceptibility to mononeuropathy of the median nerve, mild|Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease type 4C|Charcot-Marie-Tooth disease|Toe walking|Toe walking|Pes cavus|Delayed speech and language development|limited range of motion of the upper ankle
  • rs140985600Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease type 4|Susceptibility to mononeuropathy of the median nerve, mild|Charcot-Marie-Tooth disease type 4C|Charcot-Marie-Tooth disease
  • rs141649676Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease|Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease type 4C|Susceptibility to mononeuropathy of the median nerve, mild
  • rs143032801Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease type 4C|Susceptibility to mononeuropathy of the median nerve, mild
  • rs144873879Conflicting interpretationssingle nucleotide variantSusceptibility to mononeuropathy of the median nerve, mild|Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease type 4C|Charcot-Marie-Tooth disease
  • rs146920285Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease|Charcot-Marie-Tooth disease type 4C|Charcot-Marie-Tooth disease type 4|Susceptibility to mononeuropathy of the median nerve, mild
  • rs201779392Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease
  • rs375970910Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease type 4|Susceptibility to mononeuropathy of the median nerve, mild|Charcot-Marie-Tooth disease type 4C|Charcot-Marie-Tooth disease
  • rs574669908Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease type 4|Susceptibility to mononeuropathy of the median nerve, mild|Charcot-Marie-Tooth disease type 4C
  • rs748870159Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease type 4C|Susceptibility to mononeuropathy of the median nerve, mild|Charcot-Marie-Tooth disease type 4
  • rs80227512Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease type 4|Susceptibility to mononeuropathy of the median nerve, mild|Charcot-Marie-Tooth disease type 4C|Charcot-Marie-Tooth disease
  • rs80359890Conflicting interpretationssingle nucleotide variantSusceptibility to mononeuropathy of the median nerve, mild|Charcot-Marie-Tooth disease type 4C|7 conditions|Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease|Toe walking
  • rs370115218Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease
  • rs80338925Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease type 4C|Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease
  • rs80338926Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease type 4C|Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease|Susceptibility to mononeuropathy of the median nerve, mild
  • rs80338931Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease type 4C|Charcot-Marie-Tooth disease type 4
  • rs80338933Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease type 4C|Susceptibility to mononeuropathy of the median nerve, mild|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease type 4|SH3TC2-Related Disorders|Charcot-Marie-Tooth disease type 4C|Susceptibility to mononeuropathy of the median nerve, mild|Inborn genetic diseases|Toe walking
  • rs80338934Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease type 4C|Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease
  • rs864622663Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease type 4
  • rs864622664PathogenicDeletionCharcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease
  • rs141715248Uncertain significancesingle nucleotide variantCharcot-Marie-Tooth disease type 4C|Susceptibility to mononeuropathy of the median nerve, mild|Charcot-Marie-Tooth disease type 4
  • rs80338930Uncertain significancesingle nucleotide variantCharcot-Marie-Tooth disease

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.