Table 7. [Pathogenic Variants Referenced in This GeneReview by Gene]. - 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 7.

Pathogenic Variants Referenced in This GeneReview by Gene

Gene	Reference Sequences	DNA Nucleotide Change	Predicted Protein Change	Comment [Reference]
HPSE2	NM_021828.4 NP_068600.4	c.1465_1466delAA	p.Asn489ProfsTer126	Common variant in persons of Irish ancestry [Daly et al 2010, Pang et al 2010]
HPSE2	NM_021828.4 NP_068600.4	c.1516C>T	p.Arg506Ter	Founder variant in Colombian population [Pang et al 2010]

: 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: Urofacial Syndrome

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Newman WG, Woolf AS, Beaman GM, et al. Urofacial Syndrome. 2013 Aug 22 [Updated 2023 Sep 28]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Table 7. [Pathogenic Variants Referenced in This GeneReview by Gene].
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