In Table 5 pathogenic variants were identified in CBS, a gene linked to homocystinuria (rs398123151 and rs121964972, 1 homozygote and 32 heterozygotes combined, 0.62% genomes), nemaline myopathy (rs886041851,16 heterozygotes, 0.3% genomes), and factor XI deficiency (rs121965063, 0.13% genomes). The gene discussed is CBS; the disease is homocystinuria.