Deletion | NM_000069.3(CACNA1S):c.4038del (p.Glu1348fs) | CACNA1S | Likely pathogenic | 1 | 201020187 | 201020187 | CT | C | criteria provided, single submitter | ClinGen:CA658795583 |
Deletion | NM_000069.3(CACNA1S):c.564del (p.Ile189fs) | CACNA1S | Pathogenic | 1 | 201060898 | 201060898 | TG | T | criteria provided, single submitter | ClinGen:CA658795585 |
Deletion | NM_000069.3(CACNA1S):c.1796del (p.Asn599fs) | CACNA1S | Pathogenic | 1 | 201046079 | 201046079 | GT | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000069.3(CACNA1S):c.4113+1G>C | CACNA1S | Likely pathogenic | 1 | 201020111 | 201020111 | C | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000069.3(CACNA1S):c.1269G>A (p.Trp423Ter) | CACNA1S | Likely pathogenic | 1 | 201052414 | 201052414 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000069.3(CACNA1S):c.900G>A (p.Trp300Ter) | CACNA1S | Pathogenic/Likely pathogenic | 1 | 201058386 | 201058386 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000069.3(CACNA1S):c.4113+1G>A | CACNA1S | Likely pathogenic | 1 | 201020111 | 201020111 | C | T | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_000069.3(CACNA1S):c.3988del (p.Leu1330fs) | CACNA1S | Pathogenic | 1 | 201020237 | 201020237 | AG | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000069.3(CACNA1S):c.3795G>T (p.Gln1265His) | CACNA1S | Likely pathogenic | 1 | 201022587 | 201022587 | C | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000069.3(CACNA1S):c.2269C>T (p.Arg757Ter) | CACNA1S | Pathogenic/Likely pathogenic | 1 | 201039491 | 201039491 | G | A | criteria provided, multiple submitters, no conflicts | - |