Table 11.

Notable CLCN7 Pathogenic Variants

Reference SequencesDNA Nucleotide ChangePredicted Protein ChangeComment [Reference]
NM_001287​.6
NP_001278​.1 		c.643G>Ap.Gly215ArgRecurrent pathogenic variants assoc w/ADOII [Cleiren et al 2001]
c.856C>Tp.Arg286Trp

ADOII = autosomal dominant osteopetrosis type II

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: CLCN7-Related Osteopetrosis

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