Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
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.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.897C>G (p.Tyr299Ter) | CACNA1S | Pathogenic | 1 | 201058389 | 201058389 | G | C | criteria provided, single submitter | - |
Deletion | NM_000069.3(CACNA1S):c.732del (p.Cys245fs) | CACNA1S | Pathogenic | 1 | 201058554 | 201058554 | AG | A | criteria provided, single submitter | - |
Deletion | NM_000069.3(CACNA1S):c.564del (p.Ile189fs) | CACNA1S | Pathogenic | 1 | 201060898 | 201060898 | TG | T | criteria provided, single submitter | ClinGen:CA658795585 |
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 |