Table 9. [Notable C9orf72 Variants]. - GeneReviews® - NCBI Bookshelf

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Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

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Table 9.

Notable C9orf72 Variants

Reference Sequences	DNA Nucleotide Change	Predicted Protein Change	Repeat Range
NM_145005.6	c.-45+258_-45+263delGGGGCC[2_24]	--	Normal
	c.-45+258_-45+263delGGGGCC[25_60]	--	Of uncertain significance
	c.-45+258_-45+263delGGGGCC[61_>4000]	--	Pathogenic w/age-dependent reduced penetrance

: Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.
: GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen.hgvs.org). See Quick Reference for an explanation of nomenclature.

From: C9orf72 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis

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Gossye H, Engelborghs S, Van Broeckhoven C, et al. C9orf72 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis. 2015 Jan 8 [Updated 2020 Dec 17]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Table 9. [Notable C9orf72 Variants].
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