Case | Pedigree | Sex | Assay | Rank | Chr | Gene | Variant Type | Variant ACMG | De novo | Zygo | GEM score | Mode of inheritance | MIM ID(s) | CM score(s) |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
244799 | Single | Male | WGS | 1 | 14 | SRP54 | SNV | Uncertain significance | Likely | Het | 1.76 | Dominant | 618752, 260400 | 0.672, 0.893 |
245237 | Trio | Male | WGS | 2 | X | GK | SNV | VUS | Yes | Het | 1.60 | X-linked recessive | 307030 | 1.119 |
245237 | Trio | Male | WGS | 3 | 16 | FANCA | SNV | VUS | No | Hom | 1.55 | Recessive | 227650 | 1.315 |
245768 | Single | Male | WGS | 1 | 16 | TSC2 | Dup | VUS | Likely | Het | 1.64 | Dominant | N/A | N/A |
247458 | Single | Male | WGS | 1 | 1 | SLC25A24 | SNV | VUS | Likely | Het | 1.86 | Dominant | 612289 | 1.995 |
247963 | Trio | Female | WGS | 1 | X | STAG2 | SNV | Likely pathogenic | Yes | Het | 1.53 | X-linked dominant | 301022 | 1.25 |