| 597712342 | CV3732925 | insertion | GUK1, 25-BP INS, NT66_67 | Mitochondrial dna depletion syndrome 21 [RCV005052120] | pathogenic | | | | Human | 1 | name |
| 155998754 | CV2373331 | single nucleotide variant | NM_001159390.2(GUK1):c.*27G>C | not specified [RCV004220041] | likely benign | 1 | 228148724 | 228148724 | Human | | name |
| 156094457 | CV2398835 | single nucleotide variant | NM_001159390.2(GUK1):c.*19G>A | not specified [RCV004245158] | likely benign | 1 | 228148716 | 228148716 | Human | | name |
| 597757412 | CV3685114 | single nucleotide variant | NM_001159390.2(GUK1):c.*67C>T | not specified [RCV004925074] | uncertain significance | 1 | 228148764 | 228148764 | Human | | name |
| 401778437 | CV2709118 | single nucleotide variant | NM_001159390.2(GUK1):c.*133G>A | not specified [RCV004314449] | uncertain significance | 1 | 228148830 | 228148830 | Human | | name |
| 597712349 | CV3732927 | single nucleotide variant | NM_001159390.2(GUK1):c.61+1G>T | Mitochondrial dna depletion syndrome 21 [RCV005052122] | pathogenic | 1 | 228140364 | 228140364 | Human | 1 | name |
| 598253610 | CV3974964 | single nucleotide variant | NM_001159390.2(GUK1):c.*124G>C | not specified [RCV005346290] | uncertain significance | 1 | 228148821 | 228148821 | Human | | name |
| 598253616 | CV3974965 | single nucleotide variant | NM_001159390.2(GUK1):c.*136G>A | not specified [RCV005346291] | uncertain significance | 1 | 228148833 | 228148833 | Human | | name |
| 597712358 | CV3732929 | single nucleotide variant | NM_001159390.2(GUK1):c.2T>G (p.Met1Arg) | Mitochondrial dna depletion syndrome 21 [RCV005052124] | pathogenic | 1 | 228140304 | 228140304 | Human | 1 | name |
| 329363686 | CV2471927 | single nucleotide variant | NM_001159390.2(GUK1):c.23G>T (p.Gly8Val) | not specified [RCV004280946] | uncertain significance | 1 | 228140325 | 228140325 | Human | | name |
| 405721292 | CV3255750 | single nucleotide variant | NM_001159390.2(GUK1):c.20C>G (p.Ala7Gly) | not specified [RCV004388707] | uncertain significance | 1 | 228140322 | 228140322 | Human | | name |
| 156168889 | CV2296501 | single nucleotide variant | NM_001159390.2(GUK1):c.53C>T (p.Pro18Leu) | not specified [RCV004154581] | uncertain significance | 1 | 228140355 | 228140355 | Human | | name |
| 597757397 | CV3685111 | single nucleotide variant | NM_001159390.2(GUK1):c.37G>T (p.Ala13Ser) | not specified [RCV004925071] | uncertain significance | 1 | 228140339 | 228140339 | Human | | name |
| 597757401 | CV3685112 | single nucleotide variant | NM_001159390.2(GUK1):c.645G>A (p.Arg215=) | not specified [RCV004925072] | uncertain significance | 1 | 228148685 | 228148685 | Human | | name |
| 597712346 | CV3732926 | single nucleotide variant | NM_001159390.2(GUK1):c.94G>A (p.Gly32Arg) | Mitochondrial dna depletion syndrome 21 [RCV005052121] | pathogenic | 1 | 228145543 | 228145543 | Human | 1 | name |
| 329361885 | CV2468409 | single nucleotide variant | NM_001159390.2(GUK1):c.199G>C (p.Gly67Arg) | not specified [RCV004277724] | uncertain significance | 1 | 228146049 | 228146049 | Human | | name |
| 407513381 | CV3443676 | single nucleotide variant | NM_001159390.2(GUK1):c.277G>A (p.Glu93Lys) | not specified [RCV004627172] | uncertain significance | 1 | 228146901 | 228146901 | Human | | name |
| 597712355 | CV3732928 | single nucleotide variant | NM_001159390.2(GUK1):c.139C>T (p.Gln47Ter) | Mitochondrial dna depletion syndrome 21 [RCV005052123] | pathogenic | 1 | 228145588 | 228145588 | Human | 1 | name |
| 598253620 | CV3974966 | single nucleotide variant | NM_001159390.2(GUK1):c.191C>T (p.Pro64Leu) | not specified [RCV005346292] | uncertain significance | 1 | 228146041 | 228146041 | Human | | name |
| 156380684 | CV2208351 | single nucleotide variant | NM_001159390.2(GUK1):c.499G>T (p.Val167Leu) | not specified [RCV004088784] | uncertain significance | 1 | 228147660 | 228147660 | Human | | name |
| 156044162 | CV2215907 | single nucleotide variant | NM_001159390.2(GUK1):c.506G>A (p.Arg169Gln) | not specified [RCV004096989] | uncertain significance | 1 | 228147667 | 228147667 | Human | | name |
| 156023478 | CV2233443 | single nucleotide variant | NM_001159390.2(GUK1):c.404A>T (p.Asp135Val) | not specified [RCV004106070] | uncertain significance | 1 | 228147495 | 228147495 | Human | | name |
| 156285734 | CV2292020 | single nucleotide variant | NM_001159390.2(GUK1):c.649G>A (p.Gly217Ser) | not specified [RCV004160304] | uncertain significance | 1 | 228148689 | 228148689 | Human | | name |
| 156148694 | CV2292788 | single nucleotide variant | NM_001159390.2(GUK1):c.530T>C (p.Met177Thr) | not specified [RCV004154449] | uncertain significance | 1 | 228147691 | 228147691 | Human | | name |
| 156090527 | CV2344681 | single nucleotide variant | NM_001159390.2(GUK1):c.461G>A (p.Arg154Gln) | not specified [RCV004197448] | uncertain significance | 1 | 228147622 | 228147622 | Human | | name |
| 156078118 | CV2351087 | single nucleotide variant | NM_001159390.2(GUK1):c.633G>C (p.Lys211Asn) | not specified [RCV004213951] | uncertain significance | 1 | 228148673 | 228148673 | Human | | name |
| 156256403 | CV2374067 | single nucleotide variant | NM_001159390.2(GUK1):c.382G>A (p.Val128Met) | not specified [RCV004227189] | uncertain significance | 1 | 228147473 | 228147473 | Human | | name |
| 156188964 | CV2375455 | single nucleotide variant | NM_001159390.2(GUK1):c.358G>A (p.Val120Met) | not specified [RCV004225968] | uncertain significance | 1 | 228147449 | 228147449 | Human | | name |
| 405720300 | CV3255751 | single nucleotide variant | NM_001159390.2(GUK1):c.300C>A (p.Asn100Lys) | not specified [RCV004388708] | uncertain significance | 1 | 228146924 | 228146924 | Human | | name |
| 405720307 | CV3255752 | single nucleotide variant | NM_001159390.2(GUK1):c.350G>A (p.Arg117His) | not specified [RCV004388709] | uncertain significance | 1 | 228147441 | 228147441 | Human | | name |
| 405720316 | CV3255753 | single nucleotide variant | NM_001159390.2(GUK1):c.367G>A (p.Val123Met) | not specified [RCV004388710] | uncertain significance | 1 | 228147458 | 228147458 | Human | | name |
| 597757406 | CV3685113 | single nucleotide variant | NM_001159390.2(GUK1):c.652G>A (p.Ala218Thr) | not specified [RCV004925073] | uncertain significance | 1 | 228148692 | 228148692 | Human | | name |
| 597757416 | CV3685115 | single nucleotide variant | NM_001159390.2(GUK1):c.349C>G (p.Arg117Gly) | not specified [RCV004925075] | uncertain significance | 1 | 228147440 | 228147440 | Human | | name |
| 597757421 | CV3685116 | single nucleotide variant | NM_001159390.2(GUK1):c.410G>A (p.Arg137Gln) | not specified [RCV004925076] | uncertain significance | 1 | 228147501 | 228147501 | Human | | name |
| 597757426 | CV3685117 | single nucleotide variant | NM_001159390.2(GUK1):c.637G>A (p.Ala213Thr) | not specified [RCV004925077] | uncertain significance | 1 | 228148677 | 228148677 | Human | | name |
| 597757431 | CV3685118 | single nucleotide variant | NM_001159390.2(GUK1):c.396G>C (p.Lys132Asn) | not specified [RCV004925078] | uncertain significance | 1 | 228147487 | 228147487 | Human | | name |
| 598253625 | CV3974967 | single nucleotide variant | NM_001159390.2(GUK1):c.460C>T (p.Arg154Trp) | not specified [RCV005346293] | uncertain significance | 1 | 228147621 | 228147621 | Human | | name |
| 598253631 | CV3974968 | single nucleotide variant | NM_001159390.2(GUK1):c.380G>T (p.Gly127Val) | not specified [RCV005346294] | uncertain significance | 1 | 228147471 | 228147471 | Human | | name |