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Table 3 Families with multiple damaging, validated variants in the same, previously implicated gene

From: Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders

Gene Family Position (Hg19) dbSNP Nucleotide Amino acid HIHG control chromosomes Disorder References
ABHD14A 17351 chr3:52011912 rs17849626 G > A Arg32Gln 25/614 ASD Casey et al., [53]
   chr3:52014897 rs61729088 C > G Arg227Gly 2/616 ASD Casey et al., [53]
FAT1 17545 chr4:187549364 rs111886222 G > A Thr1584Met 5/614 ASD, BD Blair et al., [43], Neale et al., [15]
   chr4:187557908 rs113970444 C > T Arg1268Gln 5/608 ASD, BD Blair et al., [43], Neale et al., [15]
OFCC1 7606 chr6:9809860 - C > T Arg538Gln 0/602 TS Sundaram et al., [51]
   chr6:9900660 rs148761621 C > A Glu204Stop 0/614 TS Sundaram et al., [51]
PRICKLE1 37232 chr12:42862463 rs61924369 C > T Glu185Lys 0/614 E Bassuk et al., [47], Tao et al., [49]
   chr12:42864125 - C > G Val57Leu 0/614 E Bassuk et al., [47], Tao et al., [49]
  1. ASD, autism spectrum disorder; BD, bipolar disorder; E, epilepsy; HIHG, Hussman Institute for Human Genomics; TS, Tourette syndrome.