single nucleotide variant | NM_000388.4(CASR):c.428G>A (p.Gly143Glu) | CASR | Pathogenic | 3 | 121976170 | 121976170 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA119503,OMIM:601199.0024 |
single nucleotide variant | NM_000388.4(CASR):c.196C>T (p.Arg66Cys) | CASR | Pathogenic/Likely pathogenic | 3 | 121975938 | 121975938 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA119507,OMIM:601199.0026 |
single nucleotide variant | NM_000388.4(CASR):c.2363T>G (p.Phe788Cys) | CASR | Pathogenic | 3 | 122003164 | 122003164 | T | G | criteria provided, single submitter | ClinGen:CA119509,OMIM:601199.0027 |
single nucleotide variant | NM_000388.4(CASR):c.2641T>C (p.Phe881Leu) | CASR | Likely pathogenic | 3 | 122003442 | 122003442 | T | C | criteria provided, single submitter | ClinGen:CA119515,OMIM:601199.0031 |
single nucleotide variant | NM_000388.4(CASR):c.1942C>T (p.Arg648Ter) | CASR | Pathogenic | 3 | 122002743 | 122002743 | C | T | criteria provided, single submitter | ClinGen:CA119517,OMIM:601199.0032 |
single nucleotide variant | NM_000388.4(CASR):c.186-1G>T | CASR | Pathogenic | 3 | 121975927 | 121975927 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA212893,OMIM:601199.0033 |
single nucleotide variant | NM_000388.4(CASR):c.2528C>A (p.Ala843Glu) | CASR | Likely pathogenic | 3 | 122003329 | 122003329 | C | A | criteria provided, single submitter | ClinGen:CA119519,OMIM:601199.0034 |
single nucleotide variant | NM_000388.4(CASR):c.553C>T (p.Arg185Ter) | CASR | Pathogenic | 3 | 121980435 | 121980435 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA119523,OMIM:601199.0036 |
single nucleotide variant | NM_000388.4(CASR):c.374T>C (p.Leu125Pro) | CASR | Pathogenic/Likely pathogenic | 3 | 121976116 | 121976116 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA119525,OMIM:601199.0037 |
single nucleotide variant | NM_000388.4(CASR):c.1810G>A (p.Glu604Lys) | CASR | Pathogenic | 3 | 122002611 | 122002611 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA119533,OMIM:601199.0041 |