Sentence examples for been reported as pathogenic from inspiring English sources

This HSPG2 variant has not previously been reported as pathogenic.

Five different loss-of-function mutations relevant to sclerosteosis in SOST gene have been reported as pathogenic in ClinVar database to date [ 3].

In co-culture with A. polyphagia, B. vestrisii, B. eneae, and B. massiliensis are phagocyted and form progressively large vacuoles that lead to amoebal lysis; however, they have never been reported as pathogenic agents before.

Although this mutation is a novel mutation, two small deletion mutations within the same exon (c.1881_1882delAG, c.1892_1893delAT) have been reported as pathogenic mutations for ADOA [ 40, 41].

Only Reston ebolavirus has a distribution reported outside of Africa, focussed in the Philippines, but has never been reported as pathogenic in humans; as a result this species was not included in the analysis.

Novel DNA sequence variations were interpreted as pathogenic mutations if they predicted nonsense codons or frameshifts followed by nonsense codons, occurred within splice site consensus sequences, were de novo changes in autosomal dominant conditions, or occurred at a position where a different nucleotide substitution had previously been reported as pathogenic.

Moreover, point mutations in exon 21 or in flanking exons are reported as pathogenic in HM patients.

Alterations identified in a region involved in a known microdeletion/microduplication syndrome were reported as pathogenic.

Additionally, 393 variants were reported as pathogenic by only one of these databases (15 by ClinVar and 378 by HGMD).

Three additional SNVs were reported as variants of uncertain significance (VUS); variants co-localized with these SNVs were reported as pathogenic in ClinVar.

Out of 76 unique nonsense variants, 13 were reported as pathogenic by both ClinVar and HGMD; one variant was reported only by ClinVar and 18 only by HGMD.