Table 1.
Pathogenic variants identified following routine diagnostic testing
| Sample number | Gene | Transcript | Allele 1 | Allele 2 | Reference(s) |
|---|---|---|---|---|---|
| 1 | AHI1 | NM_001134830.1 | c.1983del (p.Trp662Glyfs*24) | No mutation detected | |
| 2 | AHI1 | NM_001134830.1 | c.2495del (p.Leu832*) | c.2495del (p.Leu832*) | [24, 25] |
| 3 | CC2D2A | NM_001080522.2 | c.2803C > T (p.Arg935*) | c.3774dup (p.Glu1259*) | |
| 4 | CC2D2A | NM_001080522.2 | c.2875del (p.Glu959Asnfs*3) | c.2875del (p.Glu959Asnfs*3) | |
| 5 | CEP290 | NM_025114.3 | c.1975A > T (p.Lys659*) | c.5668G > T (p.Gly1890*) | [26–28] |
| 6 | MKS1 | NM_017777.3 | c.262-2A > G (p.?) | No mutation detected | |
| 7 | TCTN2 | NM_024809.4 | c.1506-2A > G (p.?) | No mutation detected | [29] |
| 8 | TCTN2 | NM_024809.4 | c.1506-2A > G (p.?) | c.1506-2A > G (p.?) | [29] |
| 9 | TCTN2 | NM_024809.4 | c.1506-2A > G (p.?) | c.1506-2A > G (p.?) | [29] |
| 10 | TCTN2 | NM_024809.4 | c.1506-2A > G (p.?) | c.1506-2A > G (p.?) | [29] |
| 11 | TMEM67 | NM_153704.5 | c.415_416del (p.Asp139Hisfs*2) | c.415_416del (p.Asp139Hisfs*2) | |
| 12 | TMEM67 | NM_153704.5 | c.514C > T (p.Arg172*) | c.622A > T (p.Arg208*) | [30, 31] |
| 13 | TMEM67 | NM_153704.5 | c.579_580del (p.Gly195Ilefs*13) | c.579_580del (p.Gly195Ilefs*13) | [32] |
| 14 | TMEM67 | NM_153704.5 | c.1319G > A (p.Arg440Gln) | c.1319G > A (p.Arg440Gln) | [31–34] |
| 15 | TMEM67 | NM_153704.5 | c.1960 + 1G > A (p.?) | c.1046 T > C (p.Leu349Ser) | [32, 33, 35] |
| 16 | TMEM237 | NM_001044385.2 | c.709del (p.Ala237Leufs*10) | No mutation detected |