Rare gain-of-function missense variant in the cardiac sodium channel Nav1.5 causing Long QT syndrome type 3 through persistent late sodium current and prolonged ventricular repolarization

Pathogenic glucokinase missense variant causing MODY2 — mild, stable fasting hyperglycemia that typically requires no pharmacologic treatment

Folate transporter — how well folate gets into your cells

Rare pathogenic missense variant in desmoplakin that enhances calpain-mediated protein degradation, destabilizing the cardiac desmosome and causing biventricular arrhythmogenic cardiomyopathy with left ventricular predominance

3' UTR variant in the neurocan gene associated with bipolar disorder and schizophrenia risk, with measurable effects on hippocampal memory function and limbic brain structure

CYP2D6 promoter variant (-1584C>G) that reduces enzyme expression; the C allele is associated with lower CYP2D6 activity and impaired response to donepezil and other CYP2D6-metabolized drugs

Intronic enhancer variant in LRP1 that regulates receptor expression in brain and vasculature, linking migraine susceptibility to central leptin signaling and metabolic regulation

Regulatory variant in a distal enhancer at 11q13.5 that controls GARP expression on regulatory T cells, impairing TGF-beta-mediated immune tolerance and increasing risk for asthma, allergic rhinitis, and inflammatory bowel disease

Intronic IL23R variant whose minor T allele tags a protective haplotype that dampens IL-23/Th17 signalling, reducing susceptibility to Crohn's disease and ulcerative colitis

T-cell receptor alpha locus variant associated with narcolepsy susceptibility, particularly in HLA-DQB1*06:02 positive individuals