single nucleotide variant | NM_000388.4(CASR):c.413C>T (p.Thr138Met) | CASR | Likely pathogenic | 3 | 121976155 | 121976155 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA119501,OMIM:601199.0023 |
single nucleotide variant | NM_000388.4(CASR):c.680G>A (p.Arg227Gln) | CASR | Pathogenic | 3 | 121980562 | 121980562 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA212891,OMIM:601199.0022,OMIM:601199.0049 |
single nucleotide variant | NM_000388.4(CASR):c.452C>T (p.Thr151Met) | CASR | Pathogenic | 3 | 121976194 | 121976194 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA119485,OMIM:601199.0012 |
single nucleotide variant | NM_000388.4(CASR):c.346G>A (p.Ala116Thr) | CASR | Likely pathogenic | 3 | 121976088 | 121976088 | G | A | criteria provided, single submitter | ClinGen:CA119481,OMIM:601199.0010 |
single nucleotide variant | NM_000388.4(CASR):c.1745G>A (p.Cys582Tyr) | CASR | Pathogenic | 3 | 122002546 | 122002546 | G | A | criteria provided, single submitter | ClinGen:CA119477,OMIM:601199.0007 |
single nucleotide variant | NM_000388.4(CASR):c.680G>T (p.Arg227Leu) | CASR | Pathogenic | 3 | 121980562 | 121980562 | G | T | criteria provided, single submitter | ClinGen:CA119475,OMIM:601199.0006 |
single nucleotide variant | NM_000388.4(CASR):c.380A>C (p.Glu127Ala) | CASR | Pathogenic | 3 | 121976122 | 121976122 | A | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA119473,OMIM:601199.0004 |
single nucleotide variant | NM_000388.4(CASR):c.554G>A (p.Arg185Gln) | CASR | Pathogenic | 3 | 121980436 | 121980436 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA119471,OMIM:601199.0003 |
single nucleotide variant | NM_000388.4(CASR):c.889G>A (p.Glu297Lys) | CASR | Pathogenic | 3 | 121980771 | 121980771 | G | A | criteria provided, single submitter | ClinGen:CA119469,OMIM:601199.0002 |
single nucleotide variant | NM_000388.4(CASR):c.2383C>T (p.Arg795Trp) | CASR | Pathogenic/Likely pathogenic | 3 | 122003184 | 122003184 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA119467,OMIM:601199.0001 |