Pathogenic variant
Genetic variability of herpes simplex virus: development of a pathogenic variant during passaging of a nonpathogenic herpes simplex virus type 1 virus strain in mouse brain.
... 83-93 0022-538X/83/040083-11$02.00/0 Copyright C 1983, American Society for Microbiology Genetic Variability of Herpes Simplex Virus: Development of a Pathogenic Variant During Passaging[r] ...
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GNA11 brain somatic pathogenic variant in an individual with phacomatosis pigmentovascularis
... the neurologic features have not been extensively characterized. Recently, somatic variants have been identified in several neu- rocutaneous syndromes (NCSs), including somatic GNAQ var- iants in SWS. 7,8 Subsequently, ...
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IFITM5 pathogenic variant causes osteogenesis imperfecta V with various phenotype severity in Ukrainian and Vietnamese patients
... IFITM5 pathogenic variant in a cohort of OI patients negative for collagen I pathogenic variants with and without symptoms of OI type ...gene pathogenic variants in patients who lack OI type V ...
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Homozygous pathogenic variant in BRAT1 associated with nonprogressive cerebellar ataxia
... We describe 2 brothers, both homozygous for a pathogenic variant in BRAT1, with NPCA, ocular motor apraxia, and isolated cere- bellar atrophy, which was nonprogressive on serial brain imaging. Seizures have ...
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Familial monophasic acute transverse myelitis due to the pathogenic variant in VPS37A
... VPS37A encodes a component of endosomal sorting complexes required for transport (ESCRT)-1, one of a set of heteromeric complexes (ESCRT-0 to ESCRT-3) that are involved in membrane remodeling processes including ...
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Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation
... a variant can be considered “greater than expected for ...Exome Variant Server (EVS) dataset, Norton et ...known pathogenic variants to determine a disease- specific MAF ...of pathogenic ...
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CDKN2A founder mutation in pancreatic ductal adenocarcinoma patients without cutaneous features of Familial Atypical Multiple Mole Melanoma (FAMMM) syndrome
... CDKN2A pathogenic variant in a PDAC-prone family without the cutaneous features of multiple moles or melanoma that are characteristic of the Familial Atypical Multiple Mole Melanoma (FAMMM) Syndrome ...
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Cantu syndrome and hypopituitarism: implications for endocrine monitoring
... This case report, considered in conjunction with other similar case series and reports, suggests that pituitary abnormalities are a possible manifestation of Cantu syndrome. Cooper (5) describes a male with Cantu ...
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Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients
... Ile484Aspfs*7), three nonsense variants (p.Phe516*, p.Arg208*, p.Tyr157*) and one intronic variant (g.2023_2024insT). No large deletion/duplication was identified in three NCL1 patients where Sanger sequencing ...
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Posttranslational modifications distinguish the envelope glycoprotein of the immunodeficiency disease-inducing feline leukemia virus retrovirus.
... Similar to the aforementioned viruses, the FeLV-FAIDS pathogenic variant virus 61C and its replication-competent viral construct EECC differ from the apathogenic parent virus 61E in the [r] ...
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Description of 22 new alpha-1 antitrypsin genetic variants
... a pathogenic variant on the same amino-acid (namely, the I variant ...I variant as deleterious (0 and 1, respect- ively) while they are contradictory for the M1 ...
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Comparative genome sequencing identifies a prophage-associated genomic island linked to host adaptation of Lawsonia intracellularis infections
... Lawsonia intracellularis is an obligate intracellular bacterium and the causative agent of proliferative enteropathy (PE). The disease is endemic in pigs, emerging in horses and has also been reported in a variety of ...
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Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank
... high-risk variant- positive ...whether variant-positive individuals would meet current testing criteria, we did observe that almost half of those with a relevant personal or family history of cancer had no ...
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The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity
... the variant in 17 out of 714 ...the variant in a sample of the Norwegian population (3/1588 = ...24 variant carriers overlapped that for the general ...A variant have increased risk for breast ...
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“Omics” data integration and functional analyses link Enoyl-CoA hydratase, short chain 1 to drug refractory dilated cardiomyopathy
... and variant detection is a versatile approach to tease out genes that are causal from those that are effect modi- ...known pathogenic variant in DBT, a differentially expressed gene provides added ...
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Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease
... identified pathogenic variants for 404/722 individuals with IRD in the NIHR-BioResource Rare Diseases study, which is a pathogenic variant detection rate of ...distinguish pathogenic ...
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Genomic Sequencing Expansion and Incomplete Penetrance
... of pathogenic variant detection, but testing may also result in variants of uncertain significance, which are often interpreted by practitioners in various ...
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Human GABRG2 generalized epilepsy
... Although these investigations provide clues about the mecha- nisms underlying the GABRG2 pathogenic variant, it is un- known whether brain connectivity is affected in humans with the R43Q pathogenic ...
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Assessing biases of information contained in pedigrees for the classification of BRCA-genetic variants: a study arising from the ENIGMA analytical working group
... As expected, the mean BRCAPRO score was signifi- cantly higher in families with a pathogenic variant com- pared to wt families. This underscores the ability of the BRCAPRO model to distinguish between these ...
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CDKL5 variants
... p.Arg981Ter variant was identi- fied in our clinical cohorts (table ...this variant was in- herited or occurred de novo. This variant is not pres- ent in ExAC or in 1000G, and the clinical evidence ...
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