Variants
SGCA variants
The 28 SGCA 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 |
|---|---|---|---|---|---|
| A107V | c.320C>T | Exon 4 | 50,167,954 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.37+6T>C | Intron 1 | 50,166,083 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.585-1G>A | Intron 5 | 50,169,091 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.957-11C>G | Intron 7 | 50,170,629 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| D234N | c.700G>A | Exon 6 | 50,169,207 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G68E | c.203G>A | Exon 3 | 50,167,627 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G168R | c.502G>A | Exon 5 | 50,168,490 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| I103V | c.307A>G | Exon 3 | 50,167,731 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L31P | c.92T>C | Exon 2 | 50,167,422 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L66H | c.197T>A | Exon 3 | 50,167,621 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L89F | c.265C>T | Exon 3 | 50,167,689 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| P205H | c.614C>A | Exon 6 | 50,169,121 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| P205S | c.613C>T | Exon 6 | 50,169,120 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R34C | c.100C>T | Exon 2 | 50,167,430 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R34H | c.101G>A | Exon 2 | 50,167,431 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R77C | c.229C>T | Exon 3 | 50,167,653 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R81C | c.241C>T | Exon 3 | 50,167,665 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R98C | c.292C>T | Exon 3 | 50,167,716 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R98H | c.293G>A | Exon 3 | 50,167,717 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R192X | c.574C>T | Exon 5 | 50,168,562 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R221C | c.661C>T | Exon 6 | 50,169,168 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R221P | c.662G>C | Exon 6 | 50,169,169 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R284C | c.850C>T | Exon 7 | 50,170,245 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S82R | c.246C>A | Exon 3 | 50,167,670 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| V242F | c.724G>T | Exon 6 | 50,169,231 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| V247M | c.739G>A | Exon 6 | 50,169,246 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y90C | c.269A>G | Exon 3 | 50,167,693 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y134X | c.402C>G | Exon 5 | 50,168,390 | Pathogenic | 3 stars out of 4 reviewed by expert panel |