single nucleotide variant | NM_000069.3(CACNA1S):c.502C>T (p.Arg168Ter) | CACNA1S | Pathogenic/Likely pathogenic | 1 | 201061139 | 201061139 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA35996896 |
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.732del (p.Cys245fs) | CACNA1S | Pathogenic | 1 | 201058554 | 201058554 | AG | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000069.3(CACNA1S):c.897C>G (p.Tyr299Ter) | CACNA1S | Pathogenic | 1 | 201058389 | 201058389 | G | C | 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.1269G>A (p.Trp423Ter) | CACNA1S | Likely pathogenic | 1 | 201052414 | 201052414 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000069.3(CACNA1S):c.1503C>A (p.Cys501Ter) | CACNA1S | Pathogenic | 1 | 201047123 | 201047123 | G | T | criteria provided, single submitter | ClinGen:CA344121959 |
single nucleotide variant | NM_000069.3(CACNA1S):c.1583G>T (p.Arg528Leu) | CACNA1S | Likely pathogenic | 1 | 201047043 | 201047043 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA35978916 |
single nucleotide variant | NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His) | CACNA1S | Pathogenic | 1 | 201047043 | 201047043 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA004021,UniProtKB:Q13698#VAR_001499,OMIM:114208.0003 |
Deletion | NM_000069.3(CACNA1S):c.1796del (p.Asn599fs) | CACNA1S | Pathogenic | 1 | 201046079 | 201046079 | GT | G | criteria provided, single submitter | - |