| Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework |
|
|
|
|
|
|
|
|
|
| REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function Variants |
|
|
|
|
|
|
|
|
|
| Evaluating the Utility of REVEL and CADD for Interpreting Variants in Amyotrophic Lateral Sclerosis Genes |
|
|
|
|
|
|
|
|
|
| Evaluating the Utility of a New Pathogenicity Predictor for Pediatric Cardiomyopathy |
|
|
|
|
|
|
|
|
|
| Clinical SMN1 and SMN2 Gene-Specific Sequencing to Enhance the Clinical Sensitivity of Spinal Muscular Atrophy Diagnostic Testing |
|
|
|
|
|
|
|
|
|
| Long-Read Sequencing Identified a Large Novel δ/β-Globin Gene Deletion in a Chinese Family |
|
|
|
|
|
|
✓ |
✓ |
Chinese; Quanzhou region of Southeast China; Chinese family |
| Genotype and Phenotype Characteristics of Chinese Pediatric Patients with Primary Hyperoxaluria |
|
|
|
|
|
|
✓ |
✓ |
Chinese; ethnicities |
| Combination of Synonymous and Missense Mutations in JAK3 Gene Contributes to Severe Combined Immunodeficiency in One Child |
|
|
|
|
|
|
|
|
|
| A Likelihood Ratio Approach for Utilizing Case-Control Data in the Clinical Classification of Rare Sequence Variants: Application to BRCA1 and BRCA2 |
|
|
|
|
|
|
|
|
|
| The UCMD-Causing COL6A1 (<a:math xmlns:a="http://www.w3.org/1998/Math/MathML" id="M1">
<a:mi>c</a:mi>
<a:mo>.</a:mo>
<a:mn>930</a:mn>
|
|
|
|
|
|
|
|
|
|
| Evaluation in Monogenic Diabetes of the Impact of GCK, HNF1A, and HNF4A Variants on Splicing through the Combined Use of In Silico Tools and Minigene Assays |
|
|
|
|
|
|
|
|
|
| Early-Onset Aortic Dissection: Characterization of a New Pathogenic Splicing Variation in the MYH11 Gene with Several In-Frame Abnormal Transcripts |
|
|
|
|
|
|
|
|
|
| Unexpected Inheritance Patterns in a Large Cohort of Patients with a Suspected Ciliopathy |
|
|
|
|
|
|
|
|
|
| Phenotypic Diversity in GNAO1 Patients: A Comprehensive Overview of Variants and Phenotypes |
|
|
|
|
|
|
|
|
|
| A Novel Constitutively Active <a:math xmlns:a="http://www.w3.org/1998/Math/MathML" id="M1">
<a:mi>c</a:mi>
<a:mo>.</a:mo>
<a:mn>98</a:mn> |
|
|
|
|
|
|
✓ |
✓ |
Japanese |
| The Common PKD1 p.(Ile3167Phe) Variant Is Hypomorphic and Associated with Very Early Onset, Biallelic Polycystic Kidney Disease |
|
|
|
|
|
|
|
|
|
| BTKbase, Bruton Tyrosine Kinase Variant Database in X-Linked Agammaglobulinemia: Looking Back and Ahead |
|
|
|
|
|
|
|
|
|
| Splicing Analysis of MYO5B Noncanonical Variants in Patients with Low Gamma-Glutamyltransferase Cholestasis |
|
|
|
|
|
|
|
|
|
| A Comprehensive LOVD Database for Fatty Acid Oxidation Disorders in Chinese Populations |
|
|
|
|
|
|
|
|
|
| Targeted Genomic Sequencing of TSC1 and TSC2 Reveals Causal Variants in Individuals for Whom Previous Genetic Testing for Tuberous Sclerosis Complex Was Normal |
|
|
|
|
|
|
|
|
|
| Functional Characterization of Novel Lunatic Fringe Variants in Spondylocostal Dysostosis Type-III with Scoliosis |
|
|
|
|
|
|
|
|
|
| Disruption of Intracellular Calcium Homeostasis Leads to ERLIN2-Linked Hereditary Spastic Paraplegia in Patient-Derived Stem Cell Models |
|
|
|
|
|
|
|
|
|
| The Spectra of Disease-Causing Mutations in the Ferroportin 1 (SLC40A1) Encoding Gene and Related Iron Overload Phenotypes (Hemochromatosis Type 4 and Ferroportin Disease) |
|
|
|
|
|
|
|
|
|
| Balanced Translocation Disrupting JAG1 Identified by Optical Genomic Mapping in Suspected Alagille Syndrome |
|
|
|
|
|
|
✓ |
✓ |
Han Chinese |
| Frequency and Functional Characterization of RUNX1 Germline Variants in Myeloid Neoplasms |
|
|
|
|
|
|
|
|
|
| Reasons and Resolutions for Inconsistent Variant Interpretation |
|
|
|
|
|
|
|
|
|
| The Broad Spectrum of TP53 Mutations in CLL: Evidence of Multiclonality and Novel Mutation Hotspots |
|
|
|
|
|
|
|
|
|
| Quantitative Phenotype Morbidity Description of SATB2-Associated Syndrome |
|
|
|
|
|
|
|
|
|
| Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum Deformity |
|
|
|
|
|
|
|
|
|
| A Palindrome-Like Structure on 16p13.3 Is Associated with the Formation of Complex Structural Variations and SRRM2 Haploinsufficiency |
|
|
|
|
|
|
|
|
|
| A Novel Alu Element Insertion in ATM Induces Exon Skipping in Suspected HBOC Patients |
|
|
|
|
|
|
|
|
|
| Large Region of Homozygous (ROH) Identified in Indian Patients with Autosomal Recessive Limb-Girdle Muscular Dystrophy with p.Thr182Pro Variant in SGCB Gene |
|
|
|
|
|
✓ |
|
|
West Eurasian/European ancestry |
| Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant Curation |
|
|
|
|
|
|
|
|
|
| Functional Assays Combined with Pre-mRNA-Splicing Analysis Improve Variant Classification and Diagnostics for Individuals with Neurofibromatosis Type 1 and Legius Syndrome |
|
|
|
|
|
|
|
|
|