GDF6 and GDF3 selected sequence variants.^a

aOnly variants which were followed-up are shown here (See Methods section); Variants were validated by bidirectional sequencing and all sampled affected and unaffected individuals within each identified family were sequenced. bBase pair positions based on human genome build GRCh37/hg19. cThe nomenclature used to describe novel variants was based on recommendations by the Human Genome Variation Society (den Dunnen and Antonarakis 2001). Nucleotide numbering was based on the GDF6 RefSeq genomic sequence, NG_008981.1, and intron-exon boundaries were defined based on the GDF6 mRNA sequence, NM_001001557. dAlleles: Reference allele/Alternate allele. eCMI MAF estimate based on all affected family members initially screened; 1KG MAF: Based on 1000 Genomes Integrated Phase 1 Release v3: European population. fIs sharing observed across all affected individuals within each family? gNumbers in parentheses: Numerator: number of sampled individuals carrying the variant, Denominator: total number of sampled individuals. Only affecteds were considered for “All affecteds” and only unaffecteds/uncertains were considered for “Reduced penetrance”. hMAF estimate was not available from 1000 Genomes; MAF estimate based on the Exome sequencing project: European population. iIndividual suspected to have Chiari Malformation Type 0 is counted as “affected” for the purposes of this table.