Variants
NEB variants
The 9 NEB variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| c.78+1G>A | Intron 4 | 151,729,614 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.6076-1G>T | Intron 47 | 151,658,091 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.11910+1G>A | Intron 79 | 151,610,761 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.19944G>A | Exon 129 | 151,551,738 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| D498G | c.1493A>G | Exon 17 | 151,696,713 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R2313X | c.6937C>T | Exon 53 | 151,650,864 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R7997X | c.23989C>T | Exon 168 | 151,501,423 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| S6366I | c.19097G>T | Exon 122 | 151,561,212 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| T7382P | c.22144A>C | Exon 150 | 151,525,975 | Pathogenic | 3 stars out of 4 reviewed by expert panel |