| 15124912 | CV715007 | single nucleotide variant | NM_016951.4(CKLF):c.435G>A (p.Val145=) | not provided [RCV000963492] | benign | 16 | 66565987 | 66565987 | Human | | name |
| 155931259 | CV2221000 | single nucleotide variant | NM_016951.4(CKLF):c.286G>A (p.Val96Met) | not specified [RCV004092685] | uncertain significance | 16 | 66563170 | 66563170 | Human | | name |
| 156364116 | CV2262775 | single nucleotide variant | NM_016951.4(CKLF):c.338T>C (p.Phe113Ser) | not specified [RCV004130946] | uncertain significance | 16 | 66565890 | 66565890 | Human | | name |
| 155904292 | CV2385459 | single nucleotide variant | NM_016951.4(CKLF):c.308C>A (p.Thr103Asn) | not specified [RCV004233110] | uncertain significance | 16 | 66563192 | 66563192 | Human | | name |
| 405684387 | CV3306375 | single nucleotide variant | NM_016951.4(CKLF):c.372C>G (p.Asp124Glu) | not specified [RCV004444091] | uncertain significance | 16 | 66565924 | 66565924 | Human | | name |
| 407478093 | CV3419243 | single nucleotide variant | NM_016951.4(CKLF):c.371A>G (p.Asp124Gly) | not specified [RCV004612778] | uncertain significance | 16 | 66565923 | 66565923 | Human | | name |
| 597781818 | CV3660063 | single nucleotide variant | NM_016951.4(CKLF):c.373G>A (p.Gly125Arg) | not specified [RCV004899847] | uncertain significance | 16 | 66565925 | 66565925 | Human | | name |
| 597781822 | CV3660064 | single nucleotide variant | NM_016951.4(CKLF):c.388C>G (p.Arg130Gly) | not specified [RCV004899848] | uncertain significance | 16 | 66565940 | 66565940 | Human | | name |
| 598231907 | CV3948274 | single nucleotide variant | NM_016951.4(CKLF):c.313A>G (p.Thr105Ala) | not specified [RCV005319646] | uncertain significance | 16 | 66563197 | 66563197 | Human | | name |
| 405684392 | CV3306376 | single nucleotide variant | NM_001204099.2(CKLF-CMTM1):c.13C>A (p.Gln5Lys) | not specified [RCV004444092] | likely benign | 16 | 66552728 | 66552728 | Human | | name |
| 407478099 | CV3419244 | single nucleotide variant | NM_001204099.2(CKLF-CMTM1):c.166A>G (p.Ile56Val) | not specified [RCV004612779] | uncertain significance | 16 | 66558277 | 66558277 | Human | | name |
| 8570219 | CV47575 | indel | NM_001040138.2(CKLF):c.-7863_-2035delins[AC010542.7:g.65062_65110] | Mitochondrial DNA depletion syndrome, myopathic form [RCV000032231] | pathogenic | 16 | 66544853 | 66550681 | Human | | name |