Deletion | NM_000069.3(CACNA1S):c.4871_4874del (p.Asn1624fs) | CACNA1S | Pathogenic | 1 | 201012583 | 201012586 | CTGAT | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000069.3(CACNA1S):c.4025C>A (p.Ser1342Ter) | CACNA1S | Pathogenic | 1 | 201020200 | 201020200 | G | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000069.3(CACNA1S):c.2970G>A (p.Trp990Ter) | CACNA1S | Pathogenic | 1 | 201031155 | 201031155 | C | T | criteria provided, single submitter | - |
Deletion | NM_000069.3(CACNA1S):c.2812del (p.Leu938fs) | CACNA1S | Pathogenic/Likely pathogenic | 1 | 201035007 | 201035007 | AG | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000069.3(CACNA1S):c.1847G>A (p.Trp616Ter) | CACNA1S | Pathogenic/Likely pathogenic | 1 | 201044724 | 201044724 | 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 | - |
single nucleotide variant | NM_000069.3(CACNA1S):c.4798-2A>G | CACNA1S | Likely pathogenic | 1 | 201012661 | 201012661 | T | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000069.3(CACNA1S):c.3525+1G>A | CACNA1S | Likely pathogenic | 1 | 201028316 | 201028316 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000069.3(CACNA1S):c.2854-2A>C | CACNA1S | Likely pathogenic | 1 | 201031644 | 201031644 | T | G | criteria provided, single submitter | - |