Variants in Candidate Genes for Phenotype Heterogeneity in Patients with the 22q11.2 Deletion Syndrome

Table 3

Identified indels and their predictions in the present sample (n = 60).

Gene	ZFPM2	JAM3
dbSNP	rs199956937	rs3216140
Position (hg19)	chr8: 106816289 C > CTT	chr11: 134014673 C > CCT
MAF (AbraOM)	Not identified in Brazilian population	0.032787
MAF (gnoMAD)	0.005	0.00003207
Genecanon	Damage	Damage
FATHMM-indel	Damage	Damage
SIFT-indel	09% closer to exon	42% closer to exon
RegulomeDB	NA	Binding site of transcription factor EZH2
miRNA-target	miR-130-3p, miR-17-5p, miR-142-5p, miR-340-5p	NA
Patients	3 patients with congenital cardiac malformations	40 patients
Conclusion	Possibly pathogenic	Possibly pathogenic

Variant ID from dbSNP (b151); MAF: minor allele frequency; ChiP-Seq cluster from ENCODE with motifs.