Table 2.
Genomic findings
| Gene | Chromosome | HGVS DNA reference | HGVS protein reference | Variant type | Predicted effect (substitution, deletion, etc.) | dbSNP/dbVar ID | Genotype (heterozygous/ homozygous) | ClinVar ID | Parent of origin | Comments |
|---|---|---|---|---|---|---|---|---|---|---|
| SLC6A1 | 3: 11031181 (GRCh38) | c.1328G > A | p.Gly443Asp | SNV | Missense | N/A | Heterozygous | VCV000845407.1 | De novo | VUS |
| GRIN2B | 12: 13865884 (GRCh38) | c.325G > T | p.Ala109Ser | SNV | Missense | rs772078838 | Heterozygous | VCV000246440.3 | Paternal | Likely benign |
| KANSL1 | 17: 46039111 (GRCh38) | c.2308C > T | p.Arg770Cys | SNV | Missense | N/A | Heterozygous | VCV000833548.1 | Paternal | Likely benign |
| MBD5 | 2: 148469427-148469429 (GRCh38) | c.1484_1486CAA | p.Thr496del | 3-bp microsatellite | deletion | N/A | Heterozygous | VCV000833549.1 | Paternal | Likely benign |
| CERS1 | 19: 18884102 (GRCh38) | c.575C > T | p.Ser192Phe | SNV | Missense | rs1009080328 | Heterozygous | VCV000656194.2 | Not evaluated | Noncausal (recessive gene) |
| SLC25A22 | 11: 792588 (GRCh38) | c.552C > A | p.Ala184= | SNV | Synonymous | rs368807589 | Heterozygous | VCV000506576.2 | Not evaluated | Noncausal (recessive gene) |
(HGVS) Human Genome Variation Society, (SNV) single-nucleotide variation, (N/A) not applicable, (VUS) variant of uncertain significance.