Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Deletion | NM_000219.6(KCNE1):c.202_205del (p.Ser68fs) | KCNE1 | Likely pathogenic | 21 | 35821728 | 35821731 | TTGGA | T | criteria provided, single submitter | ClinGen:CA658799410 |
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.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.268A>T (p.Lys90Ter) | KCNE1 | Likely pathogenic | 21 | 35821665 | 35821665 | T | A | criteria provided, single submitter | - |
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 |