single nucleotide variant | NM_172201.2(KCNE2):c.205G>A (p.Val69Met) | KCNE2 | Likely pathogenic | 21 | 35742982 | 35742982 | G | A | criteria provided, single submitter | ClinGen:CA301992 |
single nucleotide variant | NM_000219.6(KCNE1):c.268A>T (p.Lys90Ter) | KCNE1 | Likely pathogenic | 21 | 35821665 | 35821665 | T | A | criteria provided, single submitter | - |
Deletion | NM_000219.6(KCNE1):c.166_180del (p.Phe56_Gly60del) | KCNE1 | Likely pathogenic | 21 | 35821753 | 35821767 | TGCCCAGGGTGAAGAA | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000219.6(KCNE1):c.51G>A (p.Trp17Ter) | KCNE1 | Pathogenic | 21 | 35821882 | 35821882 | C | T | criteria provided, single submitter | - |
Deletion | NM_000219.6(KCNE1):c.202_205del (p.Ser68fs) | KCNE1 | Likely pathogenic | 21 | 35821728 | 35821731 | TTGGA | T | criteria provided, single submitter | ClinGen:CA658799410 |
Indel | NM_000219.6(KCNE1):c.227_229delinsTCTA (p.Asp76fs) | KCNE1 | Pathogenic/Likely pathogenic | 21 | 35821704 | 35821706 | GGT | TAGA | criteria provided, multiple submitters, no conflicts | ClinGen:CA658653710 |
Duplication | NM_000219.6(KCNE1):c.12dup (p.Asn5Ter) | KCNE1 | Pathogenic | 21 | 35821920 | 35821921 | T | TA | criteria provided, multiple submitters, no conflicts | ClinGen:CA645369791 |
single nucleotide variant | NM_000219.6(KCNE1):c.217C>T (p.His73Tyr) | KCNE1 | Likely pathogenic | 21 | 35821716 | 35821716 | G | A | criteria provided, single submitter | ClinGen:CA16620987 |
single nucleotide variant | NM_000219.6(KCNE1):c.262C>T (p.Gln88Ter) | KCNE1 | Likely pathogenic | 21 | 35821671 | 35821671 | G | A | criteria provided, single submitter | ClinGen:CA10588708 |
single nucleotide variant | NM_000219.6(KCNE1):c.154G>A (p.Gly52Arg) | KCNE1 | Pathogenic | 21 | 35821779 | 35821779 | C | T | criteria provided, single submitter | ClinGen:CA331920 |