single nucleotide variant | NM_000891.3(KCNJ2):c.566G>T (p.Arg189Ile) | KCNJ2 | Likely pathogenic | 17 | 68171746 | 68171746 | G | T | criteria provided, single submitter | ClinGen:CA302038 |
single nucleotide variant | NM_000891.3(KCNJ2):c.431G>C (p.Gly144Ala) | KCNJ2 | Pathogenic | 17 | 68171611 | 68171611 | G | C | criteria provided, single submitter | ClinGen:CA329672 |
single nucleotide variant | NM_000891.3(KCNJ2):c.431G>A (p.Gly144Asp) | KCNJ2 | Pathogenic | 17 | 68171611 | 68171611 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA329669 |
single nucleotide variant | NM_000891.3(KCNJ2):c.430G>A (p.Gly144Ser) | KCNJ2 | Pathogenic | 17 | 68171610 | 68171610 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA329666 |
single nucleotide variant | NM_000891.3(KCNJ2):c.245G>A (p.Arg82Gln) | KCNJ2 | Pathogenic/Likely pathogenic | 17 | 68171425 | 68171425 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA329657 |
single nucleotide variant | NM_000891.3(KCNJ2):c.244C>T (p.Arg82Trp) | KCNJ2 | Pathogenic | 17 | 68171424 | 68171424 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA145013 |
single nucleotide variant | NM_000891.3(KCNJ2):c.232G>T (p.Asp78Tyr) | KCNJ2 | Pathogenic | 17 | 68171412 | 68171412 | G | T | criteria provided, single submitter | ClinGen:CA329651 |
single nucleotide variant | NM_000891.3(KCNJ2):c.224C>T (p.Thr75Met) | KCNJ2 | Pathogenic | 17 | 68171404 | 68171404 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA302067 |
single nucleotide variant | NM_000891.3(KCNJ2):c.211G>A (p.Asp71Asn) | KCNJ2 | Likely pathogenic | 17 | 68171391 | 68171391 | G | A | criteria provided, single submitter | ClinGen:CA329642 |
single nucleotide variant | NM_000891.3(KCNJ2):c.200G>A (p.Arg67Gln) | KCNJ2 | Pathogenic/Likely pathogenic | 17 | 68171380 | 68171380 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA302017 |