Table 7. [HYAL2 Pathogenic Variants]. - GeneReviews®

Reference Sequences	DNA Nucleotide Change	Predicted Protein Change	Comment [Reference]
NM_003773.5 NP_003764.3	c.194C>G	p.Ser65Ter	Nonsense variant seen in trans w/missense variant p.Phe425Val in 2 sibs who died during 1st yr of life due to severe cardiac anomalies [Fasham et al 2022] (See Genotype-Phenotype Correlations.)
c.443A>G	p.Lys148Arg	Founder variant common in persons of Indiana Amish ancestry [Muggenthaler et al 2017, Fasham et al 2022]
c.829C>T	p.Arg277Cys	Missense variant seen in trans w/nonsense variant p.Arg295Ter in a person w/coarctation of aorta, ventricular septal defect, & severe myopic maculopathy [Fasham et al 2022] (See Genotype-Phenotype Correlations.)
c.883C>T	p.Arg295Ter	Nonsense variant seen in trans w/missense variant p.Arg277Cys in a person w/coarctation of aorta, ventricular septal defect, & severe myopic maculopathy [Fasham et al 2022] (See Genotype-Phenotype Correlations.)
c.1273T>G	p.Phe425Val	Missense variant seen in trans w/nonsense variant p.Ser65Ter in 2 sibs who died during 1st yr of life due to severe cardiac anomalies [Fasham et al 2022] (See Genotype-Phenotype Correlations.)

Reference Sequences

DNA Nucleotide Change

Predicted Protein Change

Comment [Reference]

c.194C>G

p.Ser65Ter

Nonsense variant seen in trans w/missense variant p.Phe425Val in 2 sibs who died during 1st yr of life due to severe cardiac anomalies [Fasham et al 2022] (See Genotype-Phenotype Correlations.)

c.443A>G

p.Lys148Arg

Founder variant common in persons of Indiana Amish ancestry [Muggenthaler et al 2017, Fasham et al 2022]

c.829C>T

p.Arg277Cys

Missense variant seen in trans w/nonsense variant p.Arg295Ter in a person w/coarctation of aorta, ventricular septal defect, & severe myopic maculopathy [Fasham et al 2022] (See Genotype-Phenotype Correlations.)

c.883C>T

p.Arg295Ter

Nonsense variant seen in trans w/missense variant p.Arg277Cys in a person w/coarctation of aorta, ventricular septal defect, & severe myopic maculopathy [Fasham et al 2022] (See Genotype-Phenotype Correlations.)

c.1273T>G

p.Phe425Val

Missense variant seen in trans w/nonsense variant p.Ser65Ter in 2 sibs who died during 1st yr of life due to severe cardiac anomalies [Fasham et al 2022] (See Genotype-Phenotype Correlations.)

From: HYAL2 Deficiency

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