Table 2.
Defined Clinical Variants with an Uncontested Pathogenic Classification
| Gene | Chr:position | Genotype | HGVSp/c | OMIM id | Donors | Panels |
|---|---|---|---|---|---|---|
| ABCA12 | 02:215813331 | C/T | p.D2365N | 607800.0008 | 17 | |
| ACADM | 01:076226846 | A/G | p.K333E | 607008.0001 | 21 | CSY, TAM |
| ADA | 20:043251694 | C/T | p.R211H | 608958.0004 | 4 | |
| ADA | 20:043280227 | C/T | p.D8N | 608958.0021 | 4, 5 | |
| ALDH7A1 | 05:125882068 | C/G | p.G505R | 14 | ||
| ALDOB | 09:104184173 | G/A | p.A338V | 9 | ||
| CBS | 21:044483184 | A/G | p.I278T | 613381.0004 | 14 | |
| CEP290 | 12:088477713 | T/A | p.K1575* | 610142.0007 | 4 | |
| CYP21A2 | 06:032007887 | G/T | p.V282L | 613815.0002 | 24, 7 | |
| CYP21A2 | 06:032008198 | C/T | p.Q318* | 613815.0020 | 3, 19 | |
| CYP21A2 | 06:032008783 | C/T | p.P454S | 613815.0010 | 26 | |
| DCLRE1C | 10:014977469 | C/T | p.G153R | 1, 13 | ||
| DHCR7 | 11:071146886 | C/G | c.964-1G>C | 602858.0001 | 1 | CSY |
| GBA | 01:155205634 | T/C | p.N409S | 606463.0003 | 6 | CSY, GSG |
| GJB2 | 13:020763612 | C/T | p.V37I | 121011.0023 | 17 | |
| GNPTAB | 12:102164255 | T/G | p.I348L | 27 | ||
| HBB | 11:005247914 | C/T | p.G70S | 141900.0050 | 18 | |
| IDUA | 04:000981646 | C/T | p.Q70* | 252800.0002 | 1 | CSY |
| MEFV | 16:003293403 | T/C | p.K695R | 608107.0010 | 19 | |
| MMACHC | 01:045973216 | T/+A | p.R91Kfs*14 | 609831.0001 | 23 | |
| MVK | 12:110034320 | G/A | p.V377I | 251170.0002 | 10 | |
| MYO7A | 11:076916644 | G/A | p.R1873Q | 1 | ||
| PKLR | 01:155261709 | G/A | p.R486W | 609712.0009 | 7 | |
| PYGM | 11:064527223 | G/A | p.R50* | 608455.0001 | 24 | CSY |
| SMPD1 | 11:006412867 | C/-T | p.S192Afs | 7 | ||
| TSEN54 | 17:073518081 | G/T | p.A307S | 608755.0001 | 1, 13 | |
| TYMP | 22:050967020 | C/T | p.R146H | 6 | ||
| WNT10A | 02:219755011 | T/A | p.F228I | 606268.0003 | 16, 18 | |
| ZNF469 | 16:088502971 | G/* | p.L3004_T3008 | 25 | ||
| ZNF469 | 16:088505063 | G/A | p.G3701S | 2 |