single nucleotide variant | NM_018646.6(TRPV6):c.668T>C (p.Ile223Thr) | TRPV6 | Pathogenic/Likely pathogenic | 7 | 142574530 | 142574530 | A | G | criteria provided, multiple submitters, no conflicts | OMIM:606680.0003 |
single nucleotide variant | NM_018646.6(TRPV6):c.1274G>A (p.Arg425Gln) | TRPV6 | Likely pathogenic | 7 | 142572886 | 142572886 | C | T | criteria provided, single submitter | OMIM:606680.0002 |
single nucleotide variant | NM_018646.6(TRPV6):c.1352G>A (p.Gly451Glu) | TRPV6 | Likely pathogenic | 7 | 142572711 | 142572711 | C | T | criteria provided, single submitter | OMIM:606680.0004 |
Deletion | NM_000388.4(CASR):c.3010del (p.Ser1004fs) | CASR | Pathogenic | 3 | 122003811 | 122003811 | CA | C | criteria provided, single submitter | ClinGen:CA645369338 |
single nucleotide variant | NM_000388.4(CASR):c.2657G>C (p.Arg886Pro) | CASR | Pathogenic | 3 | 122003458 | 122003458 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA16604355,LOVD 3:CASR_00066,OMIM:601199.0054 |
single nucleotide variant | NM_000388.4(CASR):c.2644A>T (p.Lys882Ter) | CASR | Likely pathogenic | 3 | 122003445 | 122003445 | A | T | criteria provided, single submitter | ClinGen:CA213590 |
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.2611G>T (p.Glu871Ter) | CASR | Pathogenic | 3 | 122003412 | 122003412 | G | T | criteria provided, single submitter | ClinGen:CA16604790 |
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.2482A>C (p.Thr828Pro) | CASR | Likely pathogenic | 3 | 122003283 | 122003283 | A | C | criteria provided, single submitter | ClinGen:CA203861 |