Table 1 List of identified pathogenic variants
From: Genomic exploration of pediatric neurological disorders: a case series
Sample | Gene | Chr. position | Rs ID | Variation | Clinical significance | Phenotypes | MAF | Database |
|---|---|---|---|---|---|---|---|---|
NV | SMPD4 | 2:130155268 | rs766318490 | C > T | Pathogenic | Neurodevelopmental disorder with microcephaly, arthrogryposis, structural brain anomalies, and microcephaly | 0.000016/4 | GnomAD_Exomes |
NV | SMPD4 | 2:130173278 | rs780446128 | C > A | Pathogenic | Neurodevelopmental disorder with microcephaly, arthrogryposis, structural brain anomalies, and microcephaly | 0.000004/1 | GnomAD_Exomes |
AB | ZFYVE261 | 14:67816033 | rs17192296 | T/A | Conflicting interpretations of pathogenicity | Not specified, spastic paraplegia, recessive | 0.02 | Qatari |
AB | DRD31 | 3:114128842 | rs3732791 | G/A | Conflicting interpretations of pathogenicity | Hereditary essential tremor, not provided | 0.015 | Korean |
AB | DNAH51 | 5:13900212: | rs115004914 | G/T | Conflicting interpretations of pathogenicity | Primary ciliary dyskinesia, not specified, not provided | 0.002 | Korea1K |
DB | OBSCN | 1:228211913 | rs371783634 | G/A | NA | 0.000007/1 | Extremely rare variant |