| NM_080916.3(DGUOK):c.255+2T>A |
single nucleotide variant |
not provided [RCV000522196] |
Chr2:73939024 [GRCh38]
Chr2:74166151 [GRCh37]
Chr2:2p13.1 |
likely pathogenic |
| NM_080916.3(DGUOK):c.255del (p.Ala86fs) |
deletion |
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) [RCV000008631]|not provided [RCV000726828] |
Chr2:73939018 [GRCh38]
Chr2:74166145 [GRCh37]
Chr2:2p13.1 |
pathogenic |
| NM_080916.3(DGUOK):c.763_766dup (p.Phe256Ter) |
duplication |
DGUOK-Related Disorders [RCV003323354]|Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) [RCV000008633]|not provided [RCV000485369] |
Chr2:73958199..73958200 [GRCh38]
Chr2:74185326..74185327 [GRCh37]
Chr2:2p13.1 |
pathogenic|likely pathogenic |
| NM_080916.3(DGUOK):c.609_610del (p.Tyr204fs) |
deletion |
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) [RCV000008634]|not provided [RCV003555977] |
Chr2:73957141..73957142 [GRCh38]
Chr2:74184268..74184269 [GRCh37]
Chr2:2p13.1 |
pathogenic |
| NM_080916.3(DGUOK):c.444-12A>G |
single nucleotide variant |
not provided [RCV001544648] |
Chr2:73950573 [GRCh38]
Chr2:74177700 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.592G>T (p.Val198Phe) |
single nucleotide variant |
not provided [RCV000729643] |
Chr2:73957125 [GRCh38]
Chr2:74184252 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.649G>A (p.Ala217Thr) |
single nucleotide variant |
not provided [RCV000594047] |
Chr2:73957182 [GRCh38]
Chr2:74184309 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.313C>T (p.Arg105Ter) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) [RCV000008632]|not provided [RCV002512916] |
Chr2:73946776 [GRCh38]
Chr2:74173903 [GRCh37]
Chr2:2p13.1 |
pathogenic |
| NM_080916.3(DGUOK):c.425G>A (p.Arg142Lys) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) [RCV000008635]|not provided [RCV001545403] |
Chr2:73946888 [GRCh38]
Chr2:74174015 [GRCh37]
Chr2:2p13.1 |
pathogenic |
| NM_080916.3(DGUOK):c.679G>A (p.Glu227Lys) |
single nucleotide variant |
DGUOK-Related Disorders [RCV003987314]|Inborn genetic diseases [RCV002512917]|Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) [RCV000008636]|not provided [RCV001568974] |
Chr2:73957212 [GRCh38]
Chr2:74184339 [GRCh37]
Chr2:2p13.1 |
pathogenic |
| NM_080916.3(DGUOK):c.763G>T (p.Asp255Tyr) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) [RCV000008637] |
Chr2:73958201 [GRCh38]
Chr2:74185328 [GRCh37]
Chr2:2p13.1 |
pathogenic |
| NM_080916.3(DGUOK):c.159G>A (p.Thr53=) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) [RCV000384705]|not provided [RCV000677026]|not specified [RCV000124675] |
Chr2:73938926 [GRCh38]
Chr2:74166053 [GRCh37]
Chr2:2p13.1 |
benign|likely benign |
| NM_080916.3(DGUOK):c.423G>A (p.Glu141=) |
single nucleotide variant |
DGUOK-related condition [RCV003935184]|Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) [RCV000380156]|not provided [RCV000677028]|not specified [RCV000124676] |
Chr2:73946886 [GRCh38]
Chr2:74174013 [GRCh37]
Chr2:2p13.1 |
benign|likely benign |
| NM_080916.3(DGUOK):c.509A>G (p.Gln170Arg) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) [RCV001139590]|Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) [RCV002498597]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 [RCV000239473]|not provided [RCV000677030]|not specified [RCV000124677] |
Chr2:73950650 [GRCh38]
Chr2:74177777 [GRCh37]
Chr2:2p13.1 |
pathogenic|benign|likely benign|uncertain significance |
| NM_080916.3(DGUOK):c.*13A>T |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) [RCV000611875]|Portal hypertension, noncirrhotic [RCV001657787]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 [RCV001657786]|not specified [RCV000124678] |
Chr2:73958749 [GRCh38]
Chr2:74185876 [GRCh37]
Chr2:2p13.1 |
benign |
| NM_080916.2(DGUOK):c.-48G>A |
single nucleotide variant |
Mitochondrial DNA depletion syndrome [RCV000368338]|not specified [RCV000124679] |
Chr2:73926863 [GRCh38]
Chr2:74153990 [GRCh37]
Chr2:2p13.1 |
benign|likely benign |
| NM_080916.3(DGUOK):c.287T>C (p.Leu96Pro) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) [RCV000122730] |
Chr2:73946750 [GRCh38]
Chr2:74173877 [GRCh37]
Chr2:2p13.1 |
likely pathogenic |
| NM_080916.3(DGUOK):c.211C>G (p.Pro71Ala) |
single nucleotide variant |
DGUOK-related condition [RCV003955135]|Inborn genetic diseases [RCV000190772]|Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) [RCV000779334]|Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) [RCV002500582]|not provided [RCV000727394]|not specified [RCV000482950] |
Chr2:73938978 [GRCh38]
Chr2:74166105 [GRCh37]
Chr2:2p13.1 |
pathogenic|likely benign|uncertain significance |
| NM_080916.3(DGUOK):c.4G>T (p.Ala2Ser) |
single nucleotide variant |
DGUOK-related condition [RCV003975258]|Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) [RCV000660620]|not provided [RCV000173554] |
Chr2:73926914 [GRCh38]
Chr2:74154041 [GRCh37]
Chr2:2p13.1 |
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3 |
copy number gain |
See cases [RCV000136053] |
Chr2:58279519..83586962 [GRCh38]
Chr2:58506654..83814086 [GRCh37]
Chr2:58360158..83667597 [NCBI36]
Chr2:2p16.1-11.2 |
pathogenic |
| GRCh38/hg38 2p16.3-11.2(chr2:47620388-86702722)x3 |
copy number gain |
See cases [RCV000137586] |
Chr2:47620388..86702722 [GRCh38]
Chr2:47847527..86929845 [GRCh37]
Chr2:47701031..86783356 [NCBI36]
Chr2:2p16.3-11.2 |
uncertain significance |
| GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 |
copy number gain |
See cases [RCV000141494] |
Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2 |
benign |
| NM_080916.3(DGUOK):c.630G>A (p.Glu210=) |
single nucleotide variant |
DGUOK-related condition [RCV003927671]|Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) [RCV000371830]|not provided [RCV000179006] |
Chr2:73957163 [GRCh38]
Chr2:74184290 [GRCh37]
Chr2:2p13.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_080916.3(DGUOK):c.605_606del (p.Arg202fs) |
microsatellite |
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) [RCV000239539]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 [RCV000239503]|not provided [RCV000196566] |
Chr2:73957135..73957136 [GRCh38]
Chr2:74184262..74184263 [GRCh37]
Chr2:2p13.1 |
pathogenic |
| NM_080916.3(DGUOK):c.176C>G (p.Thr59Arg) |
single nucleotide variant |
not provided [RCV000677027]|not specified [RCV000200788] |
Chr2:73938943 [GRCh38]
Chr2:74166070 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| NM_080916.3(DGUOK):c.697A>G (p.Lys233Glu) |
single nucleotide variant |
not provided [RCV000733456] |
Chr2:73957230 [GRCh38]
Chr2:74184357 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| NM_080916.3(DGUOK):c.123C>G (p.Leu41=) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) [RCV000270313]|not provided [RCV000911898]|not specified [RCV000197528] |
Chr2:73927033 [GRCh38]
Chr2:74154160 [GRCh37]
Chr2:2p13.1 |
benign|likely benign|uncertain significance |
| NM_080916.3(DGUOK):c.591G>A (p.Gln197=) |
single nucleotide variant |
DGUOK-Related Disorders [RCV003387796]|Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) [RCV000763090]|Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) [RCV003333049]|not provided [RCV000197640] |
Chr2:73950732 [GRCh38]
Chr2:74177859 [GRCh37]
Chr2:2p13.1 |
pathogenic|likely pathogenic |
| NM_080916.3(DGUOK):c.758A>G (p.Asn253Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003298259]|not provided [RCV000726205] |
Chr2:73958196 [GRCh38]
Chr2:74185323 [GRCh37]
Chr2:2p13.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_080916.3(DGUOK):c.708-3T>C |
single nucleotide variant |
Inborn genetic diseases [RCV002517205]|Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) [RCV000311088]|not provided [RCV000726891]|not specified [RCV000199079] |
Chr2:73958143 [GRCh38]
Chr2:74185270 [GRCh37]
Chr2:2p13.1 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_080916.3(DGUOK):c.815C>A (p.Thr272Asn) |
single nucleotide variant |
not specified [RCV000195536] |
Chr2:73958717 [GRCh38]
Chr2:74185844 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.17T>A (p.Leu6His) |
single nucleotide variant |
Inborn genetic diseases [RCV002515391]|not provided [RCV000729367] |
Chr2:73926927 [GRCh38]
Chr2:74154054 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| NM_080916.3(DGUOK):c.8C>G (p.Ala3Gly) |
single nucleotide variant |
not provided [RCV001853175]|not specified [RCV000199214] |
Chr2:73926918 [GRCh38]
Chr2:74154045 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| NM_080916.3(DGUOK):c.462T>A (p.Asn154Lys) |
single nucleotide variant |
DGUOK-related condition [RCV003895259]|Inborn genetic diseases [RCV002517206]|Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) [RCV003235120]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 [RCV000239593]|not provided [RCV000195764] |
Chr2:73950603 [GRCh38]
Chr2:74177730 [GRCh37]
Chr2:2p13.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_080916.3(DGUOK):c.658G>T (p.Glu220Ter) |
single nucleotide variant |
not provided [RCV000199537] |
Chr2:73957191 [GRCh38]
Chr2:74184318 [GRCh37]
Chr2:2p13.1 |
pathogenic |
| NM_080916.3(DGUOK):c.142+9C>T |
single nucleotide variant |
DGUOK-related condition [RCV003947631]|not provided [RCV000874948]|not specified [RCV000200016] |
Chr2:73927061 [GRCh38]
Chr2:74154188 [GRCh37]
Chr2:2p13.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_080916.3(DGUOK):c.353G>A (p.Arg118His) |
single nucleotide variant |
DGUOK-related condition [RCV003930119]|not provided [RCV000330566] |
Chr2:73946816 [GRCh38]
Chr2:74173943 [GRCh37]
Chr2:2p13.1 |
likely pathogenic |
| NM_080916.3(DGUOK):c.137A>G (p.Asn46Ser) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) [RCV001824706]|Portal hypertension, noncirrhotic [RCV000239586]|Portal hypertension, noncirrhotic, 1 [RCV001799645]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 [RCV000239535]|not provided [RCV001550857] |
Chr2:73927047 [GRCh38]
Chr2:74154174 [GRCh37]
Chr2:2p13.1 |
pathogenic|likely pathogenic |
| NM_080916.3(DGUOK):c.797T>G (p.Leu266Arg) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) [RCV001824707]|not provided [RCV003556298] |
Chr2:73958235 [GRCh38]
Chr2:74185362 [GRCh37]
Chr2:2p13.1 |
pathogenic|likely pathogenic |
| NM_080916.3(DGUOK):c.186C>A (p.Tyr62Ter) |
single nucleotide variant |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 [RCV000239511] |
Chr2:73938953 [GRCh38]
Chr2:74166080 [GRCh37]
Chr2:2p13.1 |
pathogenic |
| NM_080916.3(DGUOK):c.130G>A (p.Glu44Lys) |
single nucleotide variant |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 [RCV000239555]|not provided [RCV001782737] |
Chr2:73927040 [GRCh38]
Chr2:74154167 [GRCh37]
Chr2:2p13.1 |
pathogenic|likely pathogenic |
| NM_080916.3(DGUOK):c.444-11C>G |
single nucleotide variant |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 [RCV000239560]|not provided [RCV000478803] |
Chr2:73950574 [GRCh38]
Chr2:74177701 [GRCh37]
Chr2:2p13.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_080916.3(DGUOK):c.337T>C (p.Phe113Leu) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) [RCV000271560]|not provided [RCV000338070] |
Chr2:73946800 [GRCh38]
Chr2:74173927 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.664C>T (p.Leu222=) |
single nucleotide variant |
DGUOK-related condition [RCV003972425]|Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) [RCV000281985]|not provided [RCV000728940] |
Chr2:73957197 [GRCh38]
Chr2:74184324 [GRCh37]
Chr2:2p13.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_080916.3(DGUOK):c.256-7C>T |
single nucleotide variant |
DGUOK-related condition [RCV003949943]|not provided [RCV000726410] |
Chr2:73946712 [GRCh38]
Chr2:74173839 [GRCh37]
Chr2:2p13.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_080916.3(DGUOK):c.-21G>T |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) [RCV000273751] |
Chr2:73926890 [GRCh38]
Chr2:74154017 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.301C>T (p.Arg101Trp) |
single nucleotide variant |
not provided [RCV000294411] |
Chr2:73946764 [GRCh38]
Chr2:74173891 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.405G>A (p.Lys135=) |
single nucleotide variant |
not provided [RCV000364958] |
Chr2:73946868 [GRCh38]
Chr2:74173995 [GRCh37]
Chr2:2p13.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_080916.3(DGUOK):c.254_255delinsT (p.Lys85fs) |
indel |
not provided [RCV000734983] |
Chr2:73939021..73939022 [GRCh38]
Chr2:74166148..74166149 [GRCh37]
Chr2:2p13.1 |
pathogenic |
| GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 |
copy number gain |
not provided [RCV000752802] |
Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_080918.3(DGUOK):c.444-907AAGT[3] |
microsatellite |
Mitochondrial DNA depletion syndrome [RCV000398691]|not provided [RCV003727700] |
Chr2:73957238..73957239 [GRCh38]
Chr2:74184365..74184366 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.-8T>C |
single nucleotide variant |
DGUOK-related condition [RCV003932340]|Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) [RCV000314692] |
Chr2:73926903 [GRCh38]
Chr2:74154030 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| NM_080916.3(DGUOK):c.366G>C (p.Gln122His) |
single nucleotide variant |
DGUOK-related condition [RCV003969968]|Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) [RCV000320868]|not provided [RCV000595337] |
Chr2:73946829 [GRCh38]
Chr2:74173956 [GRCh37]
Chr2:2p13.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_080916.3(DGUOK):c.592-9del |
deletion |
DGUOK-related condition [RCV003922462]|Mitochondrial DNA depletion syndrome [RCV000335890]|not provided [RCV002057710] |
Chr2:73957116 [GRCh38]
Chr2:74184243 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| NM_080916.3(DGUOK):c.568A>T (p.Ile190Phe) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) [RCV000285612] |
Chr2:73950709 [GRCh38]
Chr2:74177836 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.*206_*210dup |
duplication |
Mitochondrial DNA depletion syndrome [RCV000307695]|not provided [RCV001590985] |
Chr2:73958938..73958939 [GRCh38]
Chr2:74186065..74186066 [GRCh37]
Chr2:2p13.1 |
benign|likely benign|uncertain significance |
| NM_080916.3(DGUOK):c.-1G>A |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) [RCV000369427]|not provided [RCV000593837] |
Chr2:73926910 [GRCh38]
Chr2:74154037 [GRCh37]
Chr2:2p13.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_080916.3(DGUOK):c.*120G>A |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) [RCV000407082] |
Chr2:73958856 [GRCh38]
Chr2:74185983 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.705G>A (p.Thr235=) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) [RCV000336906]|not provided [RCV003727699]|not specified [RCV000442793] |
Chr2:73957238 [GRCh38]
Chr2:74184365 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| NM_080916.2(DGUOK):c.-60_-57dup |
duplication |
Mitochondrial DNA depletion syndrome [RCV000391359] |
Chr2:73926849..73926850 [GRCh38]
Chr2:74153976..74153977 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.142+1G>T |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) [RCV000325344] |
Chr2:73927053 [GRCh38]
Chr2:74154180 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.2(DGUOK):c.-54C>A |
single nucleotide variant |
Mitochondrial DNA depletion syndrome [RCV000299342] |
Chr2:73926857 [GRCh38]
Chr2:74153984 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.370G>A (p.Glu124Lys) |
single nucleotide variant |
not provided [RCV000592585] |
Chr2:73946833 [GRCh38]
Chr2:74173960 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.757_759del (p.Asn253del) |
deletion |
not provided [RCV002279303]|not specified [RCV000516546] |
Chr2:73958195..73958197 [GRCh38]
Chr2:74185322..74185324 [GRCh37]
Chr2:2p13.1 |
likely pathogenic|uncertain significance |
| NM_080916.3(DGUOK):c.356dup (p.Lys120fs) |
duplication |
not provided [RCV000599153] |
Chr2:73946818..73946819 [GRCh38]
Chr2:74173945..74173946 [GRCh37]
Chr2:2p13.1 |
pathogenic |
| NM_080916.3(DGUOK):c.60G>A (p.Lys20=) |
single nucleotide variant |
DGUOK-related condition [RCV003915700]|not provided [RCV000593282] |
Chr2:73926970 [GRCh38]
Chr2:74154097 [GRCh37]
Chr2:2p13.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_080916.3(DGUOK):c.361G>C (p.Val121Leu) |
single nucleotide variant |
not provided [RCV000591195] |
Chr2:73946824 [GRCh38]
Chr2:74173951 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.256-6C>T |
single nucleotide variant |
DGUOK-related condition [RCV003955460]|not provided [RCV000731043] |
Chr2:73946713 [GRCh38]
Chr2:74173840 [GRCh37]
Chr2:2p13.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_080916.3(DGUOK):c.653A>G (p.Tyr218Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002535248]|not provided [RCV000731939] |
Chr2:73957186 [GRCh38]
Chr2:74184313 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.235C>T (p.Gln79Ter) |
single nucleotide variant |
not provided [RCV001781641] |
Chr2:73939002 [GRCh38]
Chr2:74166129 [GRCh37]
Chr2:2p13.1 |
pathogenic |
| NM_080916.3(DGUOK):c.688C>T (p.Leu230Phe) |
single nucleotide variant |
not provided [RCV000730268] |
Chr2:73957221 [GRCh38]
Chr2:74184348 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.143-4G>A |
single nucleotide variant |
not provided [RCV000734625] |
Chr2:73938906 [GRCh38]
Chr2:74166033 [GRCh37]
Chr2:2p13.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_080916.3(DGUOK):c.601A>G (p.Lys201Glu) |
single nucleotide variant |
not provided [RCV000734736] |
Chr2:73957134 [GRCh38]
Chr2:74184261 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.549G>T (p.Arg183=) |
single nucleotide variant |
not provided [RCV000733566] |
Chr2:73950690 [GRCh38]
Chr2:74177817 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.704C>T (p.Thr235Met) |
single nucleotide variant |
not provided [RCV000732795] |
Chr2:73957237 [GRCh38]
Chr2:74184364 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.494A>T (p.Glu165Val) |
single nucleotide variant |
not provided [RCV000730766] |
Chr2:73950635 [GRCh38]
Chr2:74177762 [GRCh37]
Chr2:2p13.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_080916.3(DGUOK):c.559C>T (p.His187Tyr) |
single nucleotide variant |
not provided [RCV000730767] |
Chr2:73950700 [GRCh38]
Chr2:74177827 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.808-10C>G |
single nucleotide variant |
not provided [RCV000729281] |
Chr2:73958700 [GRCh38]
Chr2:74185827 [GRCh37]
Chr2:2p13.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_080916.3(DGUOK):c.127A>G (p.Ile43Val) |
single nucleotide variant |
not provided [RCV000728098] |
Chr2:73927037 [GRCh38]
Chr2:74154164 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.444-75TC[9] |
microsatellite |
not provided [RCV000729462] |
Chr2:73950509..73950510 [GRCh38]
Chr2:74177636..74177637 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.198C>A (p.His66Gln) |
single nucleotide variant |
DGUOK-related condition [RCV003938104]|not provided [RCV000729533] |
Chr2:73938965 [GRCh38]
Chr2:74166092 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.*1C>T |
single nucleotide variant |
not specified [RCV000424072] |
Chr2:73958737 [GRCh38]
Chr2:74185864 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.443+1G>A |
single nucleotide variant |
not provided [RCV000419076] |
Chr2:73946907 [GRCh38]
Chr2:74174034 [GRCh37]
Chr2:2p13.1 |
pathogenic |
| NM_080916.3(DGUOK):c.18C>G (p.Leu6=) |
single nucleotide variant |
not provided [RCV002521692]|not specified [RCV000444825] |
Chr2:73926928 [GRCh38]
Chr2:74154055 [GRCh37]
Chr2:2p13.1 |
likely benign |
| GRCh37/hg19 2p15-11.2(chr2:62245236-86978895)x3 |
copy number gain |
See cases [RCV000448688] |
Chr2:62245236..86978895 [GRCh37]
Chr2:2p15-11.2 |
pathogenic |
| NM_080916.3(DGUOK):c.152A>G (p.Lys51Arg) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) [RCV001823141]|not provided [RCV000483434] |
Chr2:73938919 [GRCh38]
Chr2:74166046 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.142+10_142+40del |
deletion |
not provided [RCV003688858]|not specified [RCV000484554] |
Chr2:73927059..73927089 [GRCh38]
Chr2:74154186..74154216 [GRCh37]
Chr2:2p13.1 |
likely benign |
| GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) |
copy number gain |
See cases [RCV000512056] |
Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_080916.3(DGUOK):c.155C>T (p.Ser52Phe) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) [RCV000578318] |
Chr2:73938922 [GRCh38]
Chr2:74166049 [GRCh37]
Chr2:2p13.1 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 |
copy number gain |
See cases [RCV000511212] |
Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_080916.3(DGUOK):c.65C>T (p.Pro22Leu) |
single nucleotide variant |
Cognitive impairment [RCV000626989]|Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) [RCV001199235]|not provided [RCV002529801] |
Chr2:73926975 [GRCh38]
Chr2:74154102 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.444-75TC[5] |
microsatellite |
DGUOK-related condition [RCV003917938]|not specified [RCV000615687] |
Chr2:73950510..73950513 [GRCh38]
Chr2:74177637..74177640 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.444-62C>T |
single nucleotide variant |
DGUOK-related condition [RCV003962775]|not provided [RCV002065209]|not specified [RCV000601475] |
Chr2:73950523 [GRCh38]
Chr2:74177650 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.675A>G (p.Gln225=) |
single nucleotide variant |
not provided [RCV002528739]|not specified [RCV000607378] |
Chr2:73957208 [GRCh38]
Chr2:74184335 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.195G>A (p.Trp65Ter) |
single nucleotide variant |
not provided [RCV000524017] |
Chr2:73938962 [GRCh38]
Chr2:74166089 [GRCh37]
Chr2:2p13.1 |
pathogenic |
| NM_080916.3(DGUOK):c.302G>A (p.Arg101Gln) |
single nucleotide variant |
not provided [RCV000595490] |
Chr2:73946765 [GRCh38]
Chr2:74173892 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.256-14del |
deletion |
not provided [RCV002529413]|not specified [RCV000608864] |
Chr2:73946699 [GRCh38]
Chr2:74173826 [GRCh37]
Chr2:2p13.1 |
benign|likely benign |
| NM_080916.3(DGUOK):c.749T>C (p.Leu250Ser) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) [RCV000578402]|See cases [RCV002252170]|not provided [RCV001564282] |
Chr2:73958187 [GRCh38]
Chr2:74185314 [GRCh37]
Chr2:2p13.1 |
pathogenic|uncertain significance |
| NM_080916.3(DGUOK):c.80C>T (p.Ser27Phe) |
single nucleotide variant |
not provided [RCV000597415] |
Chr2:73926990 [GRCh38]
Chr2:74154117 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.278G>A (p.Gly93Glu) |
single nucleotide variant |
Cognitive impairment [RCV000626988]|Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) [RCV001199234] |
Chr2:73946741 [GRCh38]
Chr2:74173868 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.492C>T (p.Ile164=) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) [RCV001139589]|not provided [RCV000677029] |
Chr2:73950633 [GRCh38]
Chr2:74177760 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| Single allele |
duplication |
not provided [RCV000677942] |
Chr2:63671346..85698002 [GRCh37]
Chr2:2p15-11.2 |
pathogenic |
| Single allele |
deletion |
not provided [RCV000714264] |
Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3 |
likely pathogenic |
| GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 |
copy number gain |
not provided [RCV000752804] |
Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_080916.3(DGUOK):c.173_176del (p.Leu58fs) |
deletion |
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) [RCV003314271] |
Chr2:73938938..73938941 [GRCh38]
Chr2:74166065..74166068 [GRCh37]
Chr2:2p13.1 |
pathogenic |
| NM_080916.3(DGUOK):c.591+154G>A |
single nucleotide variant |
not provided [RCV000832971] |
Chr2:73950886 [GRCh38]
Chr2:74178013 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.143-181G>A |
single nucleotide variant |
not provided [RCV000838920] |
Chr2:73938729 [GRCh38]
Chr2:74165856 [GRCh37]
Chr2:2p13.1 |
benign |
| GRCh37/hg19 2p13.1(chr2:74139260-74249457)x3 |
copy number gain |
not provided [RCV000849395] |
Chr2:74139260..74249457 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.155C>G (p.Ser52Cys) |
single nucleotide variant |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 [RCV000790972] |
Chr2:73938922 [GRCh38]
Chr2:74166049 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.255+277T>A |
single nucleotide variant |
not provided [RCV000828556] |
Chr2:73939299 [GRCh38]
Chr2:74166426 [GRCh37]
Chr2:2p13.1 |
benign |
| NM_080916.3(DGUOK):c.707+310T>C |
single nucleotide variant |
not provided [RCV000828558] |
Chr2:73957550 [GRCh38]
Chr2:74184677 [GRCh37]
Chr2:2p13.1 |
benign |
| NM_080916.3(DGUOK):c.696C>T (p.His232=) |
single nucleotide variant |
not provided [RCV000841304] |
Chr2:73957229 [GRCh38]
Chr2:74184356 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.256-190A>C |
single nucleotide variant |
not provided [RCV000838921] |
Chr2:73946529 [GRCh38]
Chr2:74173656 [GRCh37]
Chr2:2p13.1 |
benign |
| NM_080916.3(DGUOK):c.591+221T>C |
single nucleotide variant |
not provided [RCV000838922] |
Chr2:73950953 [GRCh38]
Chr2:74178080 [GRCh37]
Chr2:2p13.1 |
benign |
| NM_080916.3(DGUOK):c.707+206G>A |
single nucleotide variant |
not provided [RCV000838923] |
Chr2:73957446 [GRCh38]
Chr2:74184573 [GRCh37]
Chr2:2p13.1 |
benign |
| NM_080916.3(DGUOK):c.707+1G>A |
single nucleotide variant |
not provided [RCV001237466] |
Chr2:73957241 [GRCh38]
Chr2:74184368 [GRCh37]
Chr2:2p13.1 |
likely pathogenic |
| NM_080916.3(DGUOK):c.*119C>T |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) [RCV001140357] |
Chr2:73958855 [GRCh38]
Chr2:74185982 [GRCh37]
Chr2:2p13.1 |
benign |
| NM_080916.3(DGUOK):c.707+3_707+6del |
microsatellite |
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) [RCV002290594]|not provided [RCV001091890] |
Chr2:73957239..73957242 [GRCh38]
Chr2:74184366..74184369 [GRCh37]
Chr2:2p13.1 |
pathogenic |
| NM_080916.3(DGUOK):c.7G>T (p.Ala3Ser) |
single nucleotide variant |
not provided [RCV003106419] |
Chr2:73926917 [GRCh38]
Chr2:74154044 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.627G>A (p.Glu209=) |
single nucleotide variant |
not provided [RCV003106426] |
Chr2:73957160 [GRCh38]
Chr2:74184287 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NC_000002.11:g.(?_71004499)_(74779761_?)del |
deletion |
Dystonic disorder [RCV003113211]|Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency [RCV003113210]|not provided [RCV003107716] |
Chr2:71004499..74779761 [GRCh37]
Chr2:2p13.3-13.1 |
pathogenic|no classifications from unflagged records |
| NM_080916.3(DGUOK):c.256-30A>G |
single nucleotide variant |
not provided [RCV001566774] |
Chr2:73946689 [GRCh38]
Chr2:74173816 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NC_000002.12:g.73926872_73926886del |
deletion |
not provided [RCV001621479] |
Chr2:73926862..73926876 [GRCh38]
Chr2:74153989..74154003 [GRCh37]
Chr2:2p13.1 |
benign |
| NC_000002.12:g.73926524del |
deletion |
not provided [RCV001672330] |
Chr2:73926515 [GRCh38]
Chr2:74153642 [GRCh37]
Chr2:2p13.1 |
benign |
| NC_000002.12:g.73926778C>T |
single nucleotide variant |
not provided [RCV001716207] |
Chr2:73926778 [GRCh38]
Chr2:74153905 [GRCh37]
Chr2:2p13.1 |
benign |
| NM_080916.3(DGUOK):c.444-353A>G |
single nucleotide variant |
not provided [RCV001639763] |
Chr2:73950232 [GRCh38]
Chr2:74177359 [GRCh37]
Chr2:2p13.1 |
benign |
| NM_080916.3(DGUOK):c.101C>T (p.Ala34Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003161087]|not provided [RCV001552977] |
Chr2:73927011 [GRCh38]
Chr2:74154138 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.444-170G>A |
single nucleotide variant |
not provided [RCV001656966] |
Chr2:73950415 [GRCh38]
Chr2:74177542 [GRCh37]
Chr2:2p13.1 |
benign |
| NM_080916.3(DGUOK):c.143-7A>G |
single nucleotide variant |
not provided [RCV000919099] |
Chr2:73938903 [GRCh38]
Chr2:74166030 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.189A>C (p.Pro63=) |
single nucleotide variant |
DGUOK-related condition [RCV003950730]|not provided [RCV000910947] |
Chr2:73938956 [GRCh38]
Chr2:74166083 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.707+2T>G |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) [RCV000986778] |
Chr2:73957242 [GRCh38]
Chr2:74184369 [GRCh37]
Chr2:2p13.1 |
likely pathogenic |
| NC_000002.12:g.73926524dup |
duplication |
not provided [RCV001577987] |
Chr2:73926514..73926515 [GRCh38]
Chr2:74153641..74153642 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.684C>G (p.Ala228=) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) [RCV001140355] |
Chr2:73957217 [GRCh38]
Chr2:74184344 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.265G>A (p.Ala89Thr) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) [RCV001137357]|not provided [RCV002558303] |
Chr2:73946728 [GRCh38]
Chr2:74173855 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.655C>T (p.Leu219=) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) [RCV001139591]|not provided [RCV002070659] |
Chr2:73957188 [GRCh38]
Chr2:74184315 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| NM_080916.3(DGUOK):c.*7C>T |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) [RCV001140356] |
Chr2:73958743 [GRCh38]
Chr2:74185870 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.9G>T (p.Ala3=) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) [RCV001137356]|not provided [RCV003669198] |
Chr2:73926919 [GRCh38]
Chr2:74154046 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| NM_080916.3(DGUOK):c.466T>C (p.Phe156Leu) |
single nucleotide variant |
not provided [RCV003106772] |
Chr2:73950607 [GRCh38]
Chr2:74177734 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.443+112A>G |
single nucleotide variant |
not provided [RCV001663331] |
Chr2:73947018 [GRCh38]
Chr2:74174145 [GRCh37]
Chr2:2p13.1 |
benign |
| NM_080916.3(DGUOK):c.771T>C (p.Ser257=) |
single nucleotide variant |
not provided [RCV001311195] |
Chr2:73958209 [GRCh38]
Chr2:74185336 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.831_832del (p.Ter278ThrextTer?) |
deletion |
Mitochondrial DNA-depletion syndrome 3, hepatocerebral [RCV001333461] |
Chr2:73958732..73958733 [GRCh38]
Chr2:74185859..74185860 [GRCh37]
Chr2:2p13.1 |
pathogenic |
| NM_080916.3(DGUOK):c.13C>T (p.Arg5Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002546340]|Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) [RCV001329609] |
Chr2:73926923 [GRCh38]
Chr2:74154050 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.662_672del (p.Gln221fs) |
deletion |
not provided [RCV001780930] |
Chr2:73957193..73957203 [GRCh38]
Chr2:74184320..74184330 [GRCh37]
Chr2:2p13.1 |
likely pathogenic |
| NM_080916.3(DGUOK):c.352C>T (p.Arg118Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002541190]|not provided [RCV001780931] |
Chr2:73946815 [GRCh38]
Chr2:74173942 [GRCh37]
Chr2:2p13.1 |
likely pathogenic|uncertain significance |
| NM_080916.3(DGUOK):c.199G>A (p.Val67Ile) |
single nucleotide variant |
DGUOK-related condition [RCV003911009]|not provided [RCV001885106] |
Chr2:73938966 [GRCh38]
Chr2:74166093 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) |
copy number gain |
Mosaic trisomy 2 [RCV002280628] |
Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_080916.3(DGUOK):c.3G>A (p.Met1Ile) |
single nucleotide variant |
not provided [RCV001780928] |
Chr2:73926913 [GRCh38]
Chr2:74154040 [GRCh37]
Chr2:2p13.1 |
pathogenic|likely pathogenic |
| NM_080916.3(DGUOK):c.136A>G (p.Asn46Asp) |
single nucleotide variant |
not provided [RCV001761275] |
Chr2:73927046 [GRCh38]
Chr2:74154173 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.176C>T (p.Thr59Met) |
single nucleotide variant |
not provided [RCV001913647] |
Chr2:73938943 [GRCh38]
Chr2:74166070 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.275T>A (p.Leu92His) |
single nucleotide variant |
not provided [RCV002008642] |
Chr2:73946738 [GRCh38]
Chr2:74173865 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.314G>A (p.Arg105Gln) |
single nucleotide variant |
not provided [RCV001896137] |
Chr2:73946777 [GRCh38]
Chr2:74173904 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.319T>C (p.Ser107Pro) |
single nucleotide variant |
not provided [RCV002045225] |
Chr2:73946782 [GRCh38]
Chr2:74173909 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.707A>G (p.Lys236Arg) |
single nucleotide variant |
not provided [RCV002041227] |
Chr2:73957240 [GRCh38]
Chr2:74184367 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.206C>T (p.Thr69Ile) |
single nucleotide variant |
not provided [RCV001891084] |
Chr2:73938973 [GRCh38]
Chr2:74166100 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.44T>A (p.Phe15Tyr) |
single nucleotide variant |
not provided [RCV001983410] |
Chr2:73926954 [GRCh38]
Chr2:74154081 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.56C>T (p.Ala19Val) |
single nucleotide variant |
not provided [RCV001945514] |
Chr2:73926966 [GRCh38]
Chr2:74154093 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.789AGA[1] (p.Glu264del) |
microsatellite |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 [RCV002052109] |
Chr2:73958226..73958228 [GRCh38]
Chr2:74185353..74185355 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.444-62C>A |
single nucleotide variant |
not provided [RCV001909174] |
Chr2:73950523 [GRCh38]
Chr2:74177650 [GRCh37]
Chr2:2p13.1 |
likely pathogenic|uncertain significance |
| NM_080916.3(DGUOK):c.772G>A (p.Glu258Lys) |
single nucleotide variant |
not provided [RCV001989128] |
Chr2:73958210 [GRCh38]
Chr2:74185337 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.280A>G (p.Asn94Asp) |
single nucleotide variant |
not provided [RCV001881057] |
Chr2:73946743 [GRCh38]
Chr2:74173870 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.792A>C (p.Glu264Asp) |
single nucleotide variant |
not provided [RCV001952485] |
Chr2:73958230 [GRCh38]
Chr2:74185357 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.663G>T (p.Gln221His) |
single nucleotide variant |
not provided [RCV001988956] |
Chr2:73957196 [GRCh38]
Chr2:74184323 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.704C>G (p.Thr235Arg) |
single nucleotide variant |
not provided [RCV002034813] |
Chr2:73957237 [GRCh38]
Chr2:74184364 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.47G>T (p.Ser16Ile) |
single nucleotide variant |
not provided [RCV001974075] |
Chr2:73926957 [GRCh38]
Chr2:74154084 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.592-20G>T |
single nucleotide variant |
not provided [RCV001902317] |
Chr2:73957105 [GRCh38]
Chr2:74184232 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| NM_080916.3(DGUOK):c.243T>A (p.Ala81=) |
single nucleotide variant |
not provided [RCV002189364] |
Chr2:73939010 [GRCh38]
Chr2:74166137 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.256-20T>C |
single nucleotide variant |
not provided [RCV002106622] |
Chr2:73946699 [GRCh38]
Chr2:74173826 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.93C>A (p.Gly31=) |
single nucleotide variant |
not provided [RCV002188531] |
Chr2:73927003 [GRCh38]
Chr2:74154130 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.444-19C>T |
single nucleotide variant |
not provided [RCV002094094] |
Chr2:73950566 [GRCh38]
Chr2:74177693 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.591+12C>T |
single nucleotide variant |
not provided [RCV002172889] |
Chr2:73950744 [GRCh38]
Chr2:74177871 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.672C>T (p.Gly224=) |
single nucleotide variant |
not provided [RCV002183988] |
Chr2:73957205 [GRCh38]
Chr2:74184332 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NC_000002.11:g.(?_72359356)_(74779761_?)del |
deletion |
MOGS-congenital disorder of glycosylation [RCV003109485]|not provided [RCV003116543] |
Chr2:72359356..74779761 [GRCh37]
Chr2:2p13.2-13.1 |
pathogenic|no classifications from unflagged records |
| NC_000002.11:g.(?_69240632)_(74779761_?)dup |
duplication |
not provided [RCV003122858] |
Chr2:69240632..74779761 [GRCh37]
Chr2:2p13.3-13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.547C>T (p.Arg183Trp) |
single nucleotide variant |
not provided [RCV002278905] |
Chr2:73950688 [GRCh38]
Chr2:74177815 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.808-10C>T |
single nucleotide variant |
not provided [RCV003852767] |
Chr2:73958700 [GRCh38]
Chr2:74185827 [GRCh37]
Chr2:2p13.1 |
likely benign |
| GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1 |
copy number loss |
See cases [RCV002287563] |
Chr2:11504318..111365996 [GRCh37]
Chr2:2p25.1-q13 |
pathogenic |
| NM_080916.3(DGUOK):c.70G>C (p.Glu24Gln) |
single nucleotide variant |
not provided [RCV002261685] |
Chr2:73926980 [GRCh38]
Chr2:74154107 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.584C>T (p.Ser195Phe) |
single nucleotide variant |
not provided [RCV003152187] |
Chr2:73950725 [GRCh38]
Chr2:74177852 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.604A>G (p.Arg202Gly) |
single nucleotide variant |
not provided [RCV002295714] |
Chr2:73957137 [GRCh38]
Chr2:74184264 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.93C>G (p.Gly31=) |
single nucleotide variant |
not provided [RCV002615706] |
Chr2:73927003 [GRCh38]
Chr2:74154130 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.115C>G (p.Arg39Gly) |
single nucleotide variant |
not provided [RCV003016831]|not specified [RCV003324063] |
Chr2:73927025 [GRCh38]
Chr2:74154152 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.42C>G (p.Pro14=) |
single nucleotide variant |
not provided [RCV002618167] |
Chr2:73926952 [GRCh38]
Chr2:74154079 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.143-6T>C |
single nucleotide variant |
DGUOK-related condition [RCV003898504]|not provided [RCV002730385] |
Chr2:73938904 [GRCh38]
Chr2:74166031 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| NM_080916.3(DGUOK):c.336A>G (p.Thr112=) |
single nucleotide variant |
not provided [RCV003017069] |
Chr2:73946799 [GRCh38]
Chr2:74173926 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.240T>C (p.Ala80=) |
single nucleotide variant |
not provided [RCV002819263] |
Chr2:73939007 [GRCh38]
Chr2:74166134 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.463C>A (p.Leu155Ile) |
single nucleotide variant |
not provided [RCV002991795] |
Chr2:73950604 [GRCh38]
Chr2:74177731 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.827A>C (p.Asn276Thr) |
single nucleotide variant |
not provided [RCV002816125] |
Chr2:73958729 [GRCh38]
Chr2:74185856 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.225G>A (p.Trp75Ter) |
single nucleotide variant |
not provided [RCV002755272] |
Chr2:73938992 [GRCh38]
Chr2:74166119 [GRCh37]
Chr2:2p13.1 |
pathogenic |
| NM_080916.3(DGUOK):c.69C>G (p.Leu23=) |
single nucleotide variant |
DGUOK-related condition [RCV003898697]|not provided [RCV003016992] |
Chr2:73926979 [GRCh38]
Chr2:74154106 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.100G>A (p.Ala34Thr) |
single nucleotide variant |
not provided [RCV003033802] |
Chr2:73927010 [GRCh38]
Chr2:74154137 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.139A>G (p.Ile47Val) |
single nucleotide variant |
not provided [RCV002740436] |
Chr2:73927049 [GRCh38]
Chr2:74154176 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.495G>A (p.Glu165=) |
single nucleotide variant |
not provided [RCV002785570] |
Chr2:73950636 [GRCh38]
Chr2:74177763 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.16C>T (p.Leu6Phe) |
single nucleotide variant |
not provided [RCV002662808] |
Chr2:73926926 [GRCh38]
Chr2:74154053 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.796C>T (p.Leu266Phe) |
single nucleotide variant |
not provided [RCV002912440] |
Chr2:73958234 [GRCh38]
Chr2:74185361 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.591+7C>T |
single nucleotide variant |
not provided [RCV002659239] |
Chr2:73950739 [GRCh38]
Chr2:74177866 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.6C>G (p.Ala2=) |
single nucleotide variant |
not provided [RCV002705778] |
Chr2:73926916 [GRCh38]
Chr2:74154043 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.143-10T>G |
single nucleotide variant |
not provided [RCV002847131] |
Chr2:73938900 [GRCh38]
Chr2:74166027 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.46A>G (p.Ser16Gly) |
single nucleotide variant |
not provided [RCV002695262] |
Chr2:73926956 [GRCh38]
Chr2:74154083 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.256-3T>C |
single nucleotide variant |
not provided [RCV003054694]|not specified [RCV003331412] |
Chr2:73946716 [GRCh38]
Chr2:74173843 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.142+13A>C |
single nucleotide variant |
not provided [RCV002735405] |
Chr2:73927065 [GRCh38]
Chr2:74154192 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.198C>T (p.His66=) |
single nucleotide variant |
DGUOK-related condition [RCV003984279]|not provided [RCV002795628] |
Chr2:73938965 [GRCh38]
Chr2:74166092 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.141T>G (p.Ile47Met) |
single nucleotide variant |
not provided [RCV002695336] |
Chr2:73927051 [GRCh38]
Chr2:74154178 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.246C>A (p.Gly82=) |
single nucleotide variant |
not provided [RCV002627158] |
Chr2:73939013 [GRCh38]
Chr2:74166140 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.197A>T (p.His66Leu) |
single nucleotide variant |
not provided [RCV002805772] |
Chr2:73938964 [GRCh38]
Chr2:74166091 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.800T>C (p.Met267Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002713791] |
Chr2:73958238 [GRCh38]
Chr2:74185365 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.708-18C>T |
single nucleotide variant |
not provided [RCV002625729] |
Chr2:73958128 [GRCh38]
Chr2:74185255 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.487del (p.Asp163fs) |
deletion |
Inborn genetic diseases [RCV002665796] |
Chr2:73950628 [GRCh38]
Chr2:74177755 [GRCh37]
Chr2:2p13.1 |
pathogenic |
| NM_080916.3(DGUOK):c.226C>T (p.Gln76Ter) |
single nucleotide variant |
not provided [RCV002852266] |
Chr2:73938993 [GRCh38]
Chr2:74166120 [GRCh37]
Chr2:2p13.1 |
pathogenic |
| NM_080916.3(DGUOK):c.574C>T (p.Leu192Phe) |
single nucleotide variant |
not provided [RCV003025680] |
Chr2:73950715 [GRCh38]
Chr2:74177842 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.218C>G (p.Ala73Gly) |
single nucleotide variant |
not provided [RCV002666849] |
Chr2:73938985 [GRCh38]
Chr2:74166112 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.394C>G (p.Gln132Glu) |
single nucleotide variant |
not provided [RCV002985280] |
Chr2:73946857 [GRCh38]
Chr2:74173984 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.1A>G (p.Met1Val) |
single nucleotide variant |
not provided [RCV002664244] |
Chr2:73926911 [GRCh38]
Chr2:74154038 [GRCh37]
Chr2:2p13.1 |
pathogenic |
| NM_080916.3(DGUOK):c.636A>G (p.Lys212=) |
single nucleotide variant |
not provided [RCV002676133] |
Chr2:73957169 [GRCh38]
Chr2:74184296 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.677A>G (p.His226Arg) |
single nucleotide variant |
not provided [RCV002651487] |
Chr2:73957210 [GRCh38]
Chr2:74184337 [GRCh37]
Chr2:2p13.1 |
pathogenic |
| NM_080916.3(DGUOK):c.737C>G (p.Pro246Arg) |
single nucleotide variant |
not provided [RCV002651488] |
Chr2:73958175 [GRCh38]
Chr2:74185302 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.708-17G>A |
single nucleotide variant |
not provided [RCV002630369] |
Chr2:73958129 [GRCh38]
Chr2:74185256 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.808-6C>G |
single nucleotide variant |
DGUOK-related condition [RCV003973453]|not provided [RCV002631743] |
Chr2:73958704 [GRCh38]
Chr2:74185831 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.807+20C>G |
single nucleotide variant |
not provided [RCV002671313] |
Chr2:73958265 [GRCh38]
Chr2:74185392 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.700A>C (p.Thr234Pro) |
single nucleotide variant |
not provided [RCV002811631] |
Chr2:73957233 [GRCh38]
Chr2:74184360 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.92G>C (p.Gly31Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002920199] |
Chr2:73927002 [GRCh38]
Chr2:74154129 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.50C>G (p.Ser17Cys) |
single nucleotide variant |
DGUOK-related condition [RCV003971321]|not provided [RCV002577794] |
Chr2:73926960 [GRCh38]
Chr2:74154087 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.678C>T (p.His226=) |
single nucleotide variant |
not provided [RCV002597741] |
Chr2:73957211 [GRCh38]
Chr2:74184338 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.22C>G (p.Leu8Val) |
single nucleotide variant |
not provided [RCV002646198] |
Chr2:73926932 [GRCh38]
Chr2:74154059 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.28C>T (p.Arg10Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002959727] |
Chr2:73926938 [GRCh38]
Chr2:74154065 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.297G>A (p.Met99Ile) |
single nucleotide variant |
not provided [RCV002714806] |
Chr2:73946760 [GRCh38]
Chr2:74173887 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.257C>A (p.Ala86Asp) |
single nucleotide variant |
not provided [RCV002635770] |
Chr2:73946720 [GRCh38]
Chr2:74173847 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.436A>G (p.Ser146Gly) |
single nucleotide variant |
not provided [RCV002604654] |
Chr2:73946899 [GRCh38]
Chr2:74174026 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.566T>C (p.Phe189Ser) |
single nucleotide variant |
not provided [RCV002585722] |
Chr2:73950707 [GRCh38]
Chr2:74177834 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.14G>A (p.Arg5His) |
single nucleotide variant |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 [RCV003148534] |
Chr2:73926924 [GRCh38]
Chr2:74154051 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.290A>G (p.Asp97Gly) |
single nucleotide variant |
not provided [RCV002635536] |
Chr2:73946753 [GRCh38]
Chr2:74173880 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.255+8T>G |
single nucleotide variant |
not provided [RCV002587287] |
Chr2:73939030 [GRCh38]
Chr2:74166157 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.343T>C (p.Phe115Leu) |
single nucleotide variant |
not provided [RCV002586436] |
Chr2:73946806 [GRCh38]
Chr2:74173933 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.592-15G>A |
single nucleotide variant |
not provided [RCV002657739] |
Chr2:73957110 [GRCh38]
Chr2:74184237 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.8C>A (p.Ala3Glu) |
single nucleotide variant |
not provided [RCV002612094] |
Chr2:73926918 [GRCh38]
Chr2:74154045 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.7G>C (p.Ala3Pro) |
single nucleotide variant |
not provided [RCV003146052] |
Chr2:73926917 [GRCh38]
Chr2:74154044 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.545G>C (p.Ser182Thr) |
single nucleotide variant |
not provided [RCV003146053] |
Chr2:73950686 [GRCh38]
Chr2:74177813 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| GRCh37/hg19 2p13.1-12(chr2:73716761-75347894)x1 |
copy number loss |
not provided [RCV003223078] |
Chr2:73716761..75347894 [GRCh37]
Chr2:2p13.1-12 |
uncertain significance |
| NM_080916.3(DGUOK):c.52A>G (p.Met18Val) |
single nucleotide variant |
not provided [RCV003146051] |
Chr2:73926962 [GRCh38]
Chr2:74154089 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.592-4_592-3del |
deletion |
not provided [RCV003318801] |
Chr2:73957119..73957120 [GRCh38]
Chr2:74184246..74184247 [GRCh37]
Chr2:2p13.1 |
pathogenic |
| NM_080916.3(DGUOK):c.142+4A>C |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) [RCV003335982] |
Chr2:73927056 [GRCh38]
Chr2:74154183 [GRCh37]
Chr2:2p13.1 |
likely pathogenic |
| NM_080916.3(DGUOK):c.834A>T (p.Ter278Tyr) |
single nucleotide variant |
not specified [RCV003331845] |
Chr2:73958736 [GRCh38]
Chr2:74185863 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.384_385dup (p.Lys129fs) |
microsatellite |
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) [RCV003475819] |
Chr2:73946844..73946845 [GRCh38]
Chr2:74173971..74173972 [GRCh37]
Chr2:2p13.1 |
likely pathogenic |
| NM_080916.3(DGUOK):c.589del (p.Gln197fs) |
deletion |
not provided [RCV003569496] |
Chr2:73950727 [GRCh38]
Chr2:74177854 [GRCh37]
Chr2:2p13.1 |
pathogenic |
| NM_080916.3(DGUOK):c.453T>C (p.Phe151=) |
single nucleotide variant |
not provided [RCV003874169] |
Chr2:73950594 [GRCh38]
Chr2:74177721 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.143-14T>C |
single nucleotide variant |
not provided [RCV003543236] |
Chr2:73938896 [GRCh38]
Chr2:74166023 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.142+18G>A |
single nucleotide variant |
not provided [RCV003569949] |
Chr2:73927070 [GRCh38]
Chr2:74154197 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.444-11C>T |
single nucleotide variant |
not provided [RCV003571758] |
Chr2:73950574 [GRCh38]
Chr2:74177701 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.173T>C (p.Leu58Pro) |
single nucleotide variant |
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) [RCV003475818] |
Chr2:73938940 [GRCh38]
Chr2:74166067 [GRCh37]
Chr2:2p13.1 |
likely pathogenic |
| NM_080916.3(DGUOK):c.554C>T (p.Thr185Ile) |
single nucleotide variant |
DGUOK-related condition [RCV003414175] |
Chr2:73950695 [GRCh38]
Chr2:74177822 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.591+1G>T |
single nucleotide variant |
DGUOK-Related Disorders [RCV003388502] |
Chr2:73950733 [GRCh38]
Chr2:74177860 [GRCh37]
Chr2:2p13.1 |
likely pathogenic |
| NM_080916.3(DGUOK):c.592-26A>G |
single nucleotide variant |
not provided [RCV003427025] |
Chr2:73957099 [GRCh38]
Chr2:74184226 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.84C>T (p.Ser28=) |
single nucleotide variant |
not provided [RCV003695350] |
Chr2:73926994 [GRCh38]
Chr2:74154121 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.177G>A (p.Thr59=) |
single nucleotide variant |
not provided [RCV003827030] |
Chr2:73938944 [GRCh38]
Chr2:74166071 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.450C>T (p.Ile150=) |
single nucleotide variant |
not provided [RCV003577591] |
Chr2:73950591 [GRCh38]
Chr2:74177718 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.707+20T>A |
single nucleotide variant |
not provided [RCV003848830] |
Chr2:73957260 [GRCh38]
Chr2:74184387 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.18C>T (p.Leu6=) |
single nucleotide variant |
not provided [RCV003739953] |
Chr2:73926928 [GRCh38]
Chr2:74154055 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.498G>A (p.Trp166Ter) |
single nucleotide variant |
not provided [RCV003695844] |
Chr2:73950639 [GRCh38]
Chr2:74177766 [GRCh37]
Chr2:2p13.1 |
pathogenic |
| NM_080916.3(DGUOK):c.142+8C>T |
single nucleotide variant |
not provided [RCV003831816] |
Chr2:73927060 [GRCh38]
Chr2:74154187 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.255+20G>C |
single nucleotide variant |
not provided [RCV003696441] |
Chr2:73939042 [GRCh38]
Chr2:74166169 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.142+20T>C |
single nucleotide variant |
not provided [RCV003828493] |
Chr2:73927072 [GRCh38]
Chr2:74154199 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.174C>G (p.Leu58=) |
single nucleotide variant |
not provided [RCV003662601] |
Chr2:73938941 [GRCh38]
Chr2:74166068 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.576C>G (p.Leu192=) |
single nucleotide variant |
not provided [RCV003576351] |
Chr2:73950717 [GRCh38]
Chr2:74177844 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.75C>A (p.Gly25=) |
single nucleotide variant |
not provided [RCV003714701] |
Chr2:73926985 [GRCh38]
Chr2:74154112 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.123C>T (p.Leu41=) |
single nucleotide variant |
not provided [RCV003695101] |
Chr2:73927033 [GRCh38]
Chr2:74154160 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.707+12G>A |
single nucleotide variant |
not provided [RCV003687726] |
Chr2:73957252 [GRCh38]
Chr2:74184379 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.708-10C>T |
single nucleotide variant |
not provided [RCV003829746] |
Chr2:73958136 [GRCh38]
Chr2:74185263 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.787_789del (p.Gln263del) |
deletion |
not provided [RCV003716584] |
Chr2:73958223..73958225 [GRCh38]
Chr2:74185350..74185352 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.255+12G>A |
single nucleotide variant |
not provided [RCV003714101] |
Chr2:73939034 [GRCh38]
Chr2:74166161 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.143-15C>G |
single nucleotide variant |
not provided [RCV003687838] |
Chr2:73938895 [GRCh38]
Chr2:74166022 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.256-19T>C |
single nucleotide variant |
not provided [RCV003695921] |
Chr2:73946700 [GRCh38]
Chr2:74173827 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.808-15T>G |
single nucleotide variant |
not provided [RCV003714291] |
Chr2:73958695 [GRCh38]
Chr2:74185822 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.283T>C (p.Leu95=) |
single nucleotide variant |
not provided [RCV003715016] |
Chr2:73946746 [GRCh38]
Chr2:74173873 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.51C>A (p.Ser17=) |
single nucleotide variant |
not provided [RCV003830362] |
Chr2:73926961 [GRCh38]
Chr2:74154088 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.708-12C>T |
single nucleotide variant |
not provided [RCV003829994] |
Chr2:73958134 [GRCh38]
Chr2:74185261 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.143-17T>C |
single nucleotide variant |
not provided [RCV003662045] |
Chr2:73938893 [GRCh38]
Chr2:74166020 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.367C>T (p.Leu123=) |
single nucleotide variant |
not provided [RCV003877956] |
Chr2:73946830 [GRCh38]
Chr2:74173957 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.708-4A>G |
single nucleotide variant |
not provided [RCV003575952] |
Chr2:73958142 [GRCh38]
Chr2:74185269 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.708-11G>A |
single nucleotide variant |
not provided [RCV003882515] |
Chr2:73958135 [GRCh38]
Chr2:74185262 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.528C>G (p.Leu176=) |
single nucleotide variant |
not provided [RCV003661977] |
Chr2:73950669 [GRCh38]
Chr2:74177796 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.22C>T (p.Leu8=) |
single nucleotide variant |
not provided [RCV003693448] |
Chr2:73926932 [GRCh38]
Chr2:74154059 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.162T>C (p.Phe54=) |
single nucleotide variant |
not provided [RCV003716538] |
Chr2:73938929 [GRCh38]
Chr2:74166056 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.444-4C>T |
single nucleotide variant |
not provided [RCV003661827] |
Chr2:73950581 [GRCh38]
Chr2:74177708 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.9G>C (p.Ala3=) |
single nucleotide variant |
not provided [RCV003572331] |
Chr2:73926919 [GRCh38]
Chr2:74154046 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.810A>G (p.Val270=) |
single nucleotide variant |
not provided [RCV003811622] |
Chr2:73958712 [GRCh38]
Chr2:74185839 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.81C>T (p.Ser27=) |
single nucleotide variant |
not provided [RCV003665279] |
Chr2:73926991 [GRCh38]
Chr2:74154118 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.444-10T>A |
single nucleotide variant |
not provided [RCV003811423] |
Chr2:73950575 [GRCh38]
Chr2:74177702 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.807+14del |
deletion |
not provided [RCV003549350] |
Chr2:73958257 [GRCh38]
Chr2:74185384 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.596G>C (p.Cys199Ser) |
single nucleotide variant |
not provided [RCV003697374] |
Chr2:73957129 [GRCh38]
Chr2:74184256 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.723T>G (p.Ala241=) |
single nucleotide variant |
DGUOK-related condition [RCV003984411]|not provided [RCV003697294] |
Chr2:73958161 [GRCh38]
Chr2:74185288 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.591+1G>A |
single nucleotide variant |
not provided [RCV003663907] |
Chr2:73950733 [GRCh38]
Chr2:74177860 [GRCh37]
Chr2:2p13.1 |
likely pathogenic |
| NM_080916.3(DGUOK):c.592-9G>C |
single nucleotide variant |
not provided [RCV003696836] |
Chr2:73957116 [GRCh38]
Chr2:74184243 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.15C>T (p.Arg5=) |
single nucleotide variant |
not provided [RCV003674430] |
Chr2:73926925 [GRCh38]
Chr2:74154052 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.6C>T (p.Ala2=) |
single nucleotide variant |
not provided [RCV003667531] |
Chr2:73926916 [GRCh38]
Chr2:74154043 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.372G>A (p.Glu124=) |
single nucleotide variant |
not provided [RCV003700905] |
Chr2:73946835 [GRCh38]
Chr2:74173962 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.256-8C>T |
single nucleotide variant |
not provided [RCV003549867] |
Chr2:73946711 [GRCh38]
Chr2:74173838 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.444-7C>T |
single nucleotide variant |
not provided [RCV003703765] |
Chr2:73950578 [GRCh38]
Chr2:74177705 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.256-13C>A |
single nucleotide variant |
not provided [RCV003579893] |
Chr2:73946706 [GRCh38]
Chr2:74173833 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.414G>A (p.Gln138=) |
single nucleotide variant |
not provided [RCV003701852] |
Chr2:73946877 [GRCh38]
Chr2:74174004 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.256-18T>C |
single nucleotide variant |
not provided [RCV003701912] |
Chr2:73946701 [GRCh38]
Chr2:74173828 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.708-19A>C |
single nucleotide variant |
not provided [RCV003697573] |
Chr2:73958127 [GRCh38]
Chr2:74185254 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.94_106del (p.Leu32fs) |
deletion |
not provided [RCV003668994] |
Chr2:73927001..73927013 [GRCh38]
Chr2:74154128..74154140 [GRCh37]
Chr2:2p13.1 |
pathogenic |
| NM_080916.3(DGUOK):c.66_78del (p.Leu23fs) |
deletion |
not provided [RCV003669800] |
Chr2:73926976..73926988 [GRCh38]
Chr2:74154103..74154115 [GRCh37]
Chr2:2p13.1 |
pathogenic |
| NM_080916.3(DGUOK):c.411A>G (p.Val137=) |
single nucleotide variant |
not provided [RCV003703036] |
Chr2:73946874 [GRCh38]
Chr2:74174001 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.592-9G>A |
single nucleotide variant |
not provided [RCV003668112] |
Chr2:73957116 [GRCh38]
Chr2:74184243 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.143-1G>A |
single nucleotide variant |
not provided [RCV003703039] |
Chr2:73938909 [GRCh38]
Chr2:74166036 [GRCh37]
Chr2:2p13.1 |
likely pathogenic |
| NM_080916.3(DGUOK):c.443+16C>G |
single nucleotide variant |
not provided [RCV003814077] |
Chr2:73946922 [GRCh38]
Chr2:74174049 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.808-20T>C |
single nucleotide variant |
not provided [RCV003666003] |
Chr2:73958690 [GRCh38]
Chr2:74185817 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.143-13A>G |
single nucleotide variant |
not provided [RCV003814342] |
Chr2:73938897 [GRCh38]
Chr2:74166024 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.327A>G (p.Thr109=) |
single nucleotide variant |
not provided [RCV003851343] |
Chr2:73946790 [GRCh38]
Chr2:74173917 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.261C>T (p.Cys87=) |
single nucleotide variant |
not provided [RCV003579737] |
Chr2:73946724 [GRCh38]
Chr2:74173851 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.426G>A (p.Arg142=) |
single nucleotide variant |
not provided [RCV003559602] |
Chr2:73946889 [GRCh38]
Chr2:74174016 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.476_477del (p.Gly159fs) |
deletion |
not provided [RCV003845069] |
Chr2:73950617..73950618 [GRCh38]
Chr2:74177744..74177745 [GRCh37]
Chr2:2p13.1 |
pathogenic |
| NM_080916.3(DGUOK):c.142+16C>A |
single nucleotide variant |
not provided [RCV003707864] |
Chr2:73927068 [GRCh38]
Chr2:74154195 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.270A>G (p.Gln90=) |
single nucleotide variant |
not provided [RCV003679449] |
Chr2:73946733 [GRCh38]
Chr2:74173860 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.609G>A (p.Leu203=) |
single nucleotide variant |
not provided [RCV003564187] |
Chr2:73957142 [GRCh38]
Chr2:74184269 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.387A>G (p.Lys129=) |
single nucleotide variant |
not provided [RCV003675041] |
Chr2:73946850 [GRCh38]
Chr2:74173977 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.807+19C>T |
single nucleotide variant |
not provided [RCV003707273] |
Chr2:73958264 [GRCh38]
Chr2:74185391 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.57C>G (p.Ala19=) |
single nucleotide variant |
not provided [RCV003822714] |
Chr2:73926967 [GRCh38]
Chr2:74154094 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.591+18A>G |
single nucleotide variant |
not provided [RCV003709782] |
Chr2:73950750 [GRCh38]
Chr2:74177877 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.735T>C (p.Ile245=) |
single nucleotide variant |
not provided [RCV003564186] |
Chr2:73958173 [GRCh38]
Chr2:74185300 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.618G>A (p.Arg206=) |
single nucleotide variant |
not provided [RCV003705769] |
Chr2:73957151 [GRCh38]
Chr2:74184278 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.807+11C>T |
single nucleotide variant |
not provided [RCV003564361] |
Chr2:73958256 [GRCh38]
Chr2:74185383 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.708-17G>T |
single nucleotide variant |
not provided [RCV003859476] |
Chr2:73958129 [GRCh38]
Chr2:74185256 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.256-4C>G |
single nucleotide variant |
not provided [RCV003847024] |
Chr2:73946715 [GRCh38]
Chr2:74173842 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.171A>G (p.Leu57=) |
single nucleotide variant |
not provided [RCV003730722] |
Chr2:73938938 [GRCh38]
Chr2:74166065 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.80_81dup (p.Ser28fs) |
duplication |
not provided [RCV003554941] |
Chr2:73926989..73926990 [GRCh38]
Chr2:74154116..74154117 [GRCh37]
Chr2:2p13.1 |
pathogenic |
| NM_080916.3(DGUOK):c.591+11A>G |
single nucleotide variant |
not provided [RCV003566147] |
Chr2:73950743 [GRCh38]
Chr2:74177870 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.143-7A>C |
single nucleotide variant |
not provided [RCV003844128] |
Chr2:73938903 [GRCh38]
Chr2:74166030 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.711C>T (p.Leu237=) |
single nucleotide variant |
not provided [RCV003861211] |
Chr2:73958149 [GRCh38]
Chr2:74185276 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.213T>G (p.Pro71=) |
single nucleotide variant |
not provided [RCV003706470] |
Chr2:73938980 [GRCh38]
Chr2:74166107 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.54_57dup (p.Lys20fs) |
duplication |
not provided [RCV003551969] |
Chr2:73926963..73926964 [GRCh38]
Chr2:74154090..74154091 [GRCh37]
Chr2:2p13.1 |
pathogenic |
| NM_080916.3(DGUOK):c.592-9_592-6dup |
duplication |
not provided [RCV003684367] |
Chr2:73957113..73957114 [GRCh38]
Chr2:74184240..74184241 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.24A>G (p.Leu8=) |
single nucleotide variant |
not provided [RCV003675939] |
Chr2:73926934 [GRCh38]
Chr2:74154061 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.99C>T (p.His33=) |
single nucleotide variant |
not provided [RCV003719184] |
Chr2:73927009 [GRCh38]
Chr2:74154136 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.672C>G (p.Gly224=) |
single nucleotide variant |
not provided [RCV003541853] |
Chr2:73957205 [GRCh38]
Chr2:74184332 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.601_602del (p.Lys201fs) |
deletion |
not provided [RCV003868687] |
Chr2:73957134..73957135 [GRCh38]
Chr2:74184261..74184262 [GRCh37]
Chr2:2p13.1 |
pathogenic |
| NM_080916.3(DGUOK):c.591+20C>G |
single nucleotide variant |
not provided [RCV003681780] |
Chr2:73950752 [GRCh38]
Chr2:74177879 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.501T>C (p.His167=) |
single nucleotide variant |
not provided [RCV003684755] |
Chr2:73950642 [GRCh38]
Chr2:74177769 [GRCh37]
Chr2:2p13.1 |
likely benign |
| GRCh37/hg19 2p13.3-12(chr2:71076472-76368354)x1 |
copy number loss |
not specified [RCV003986388] |
Chr2:71076472..76368354 [GRCh37]
Chr2:2p13.3-12 |
likely pathogenic |
| NM_080916.3(DGUOK):c.256-4del |
deletion |
not provided [RCV003555389] |
Chr2:73946715 [GRCh38]
Chr2:74173842 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.388C>T (p.Leu130Phe) |
single nucleotide variant |
not provided [RCV003731061] |
Chr2:73946851 [GRCh38]
Chr2:74173978 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.708-2A>G |
single nucleotide variant |
not provided [RCV003853319] |
Chr2:73958144 [GRCh38]
Chr2:74185271 [GRCh37]
Chr2:2p13.1 |
likely pathogenic |
| NM_080916.3(DGUOK):c.255+19_255+21del |
microsatellite |
not provided [RCV003819670] |
Chr2:73939037..73939039 [GRCh38]
Chr2:74166164..74166166 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.444-62C>G |
single nucleotide variant |
not provided [RCV003866658] |
Chr2:73950523 [GRCh38]
Chr2:74177650 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.256-17T>G |
single nucleotide variant |
not provided [RCV003709281] |
Chr2:73946702 [GRCh38]
Chr2:74173829 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.102G>A (p.Ala34=) |
single nucleotide variant |
not provided [RCV003845610] |
Chr2:73927012 [GRCh38]
Chr2:74154139 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.443+9C>T |
single nucleotide variant |
not provided [RCV003866791] |
Chr2:73946915 [GRCh38]
Chr2:74174042 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.468T>C (p.Phe156=) |
single nucleotide variant |
not provided [RCV003845994] |
Chr2:73950609 [GRCh38]
Chr2:74177736 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.443+10C>T |
single nucleotide variant |
not provided [RCV003564561] |
Chr2:73946916 [GRCh38]
Chr2:74174043 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.707+17_707+19del |
deletion |
not provided [RCV003707731] |
Chr2:73957255..73957257 [GRCh38]
Chr2:74184382..74184384 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.354C>T (p.Arg118=) |
single nucleotide variant |
not provided [RCV003859627] |
Chr2:73946817 [GRCh38]
Chr2:74173944 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.592-17T>C |
single nucleotide variant |
not provided [RCV003860986] |
Chr2:73957108 [GRCh38]
Chr2:74184235 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.592-7C>G |
single nucleotide variant |
not provided [RCV003565251] |
Chr2:73957118 [GRCh38]
Chr2:74184245 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.318G>A (p.Trp106Ter) |
single nucleotide variant |
not provided [RCV003554942] |
Chr2:73946781 [GRCh38]
Chr2:74173908 [GRCh37]
Chr2:2p13.1 |
pathogenic |
| NM_080916.3(DGUOK):c.2T>C (p.Met1Thr) |
single nucleotide variant |
not provided [RCV003554939] |
Chr2:73926912 [GRCh38]
Chr2:74154039 [GRCh37]
Chr2:2p13.1 |
pathogenic |
| NM_080916.3(DGUOK):c.20_23del (p.Leu6_Phe7insTer) |
deletion |
not provided [RCV003554940] |
Chr2:73926927..73926930 [GRCh38]
Chr2:74154054..74154057 [GRCh37]
Chr2:2p13.1 |
pathogenic |
| NM_080916.3(DGUOK):c.808-19G>C |
single nucleotide variant |
not provided [RCV003861552] |
Chr2:73958691 [GRCh38]
Chr2:74185818 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.444-7C>A |
single nucleotide variant |
not provided [RCV003863348] |
Chr2:73950578 [GRCh38]
Chr2:74177705 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.120G>A (p.Arg40=) |
single nucleotide variant |
DGUOK-related condition [RCV003983725] |
Chr2:73927030 [GRCh38]
Chr2:74154157 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.736C>T (p.Pro246Ser) |
single nucleotide variant |
DGUOK-related condition [RCV003954749] |
Chr2:73958174 [GRCh38]
Chr2:74185301 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_080916.3(DGUOK):c.143-19C>T |
single nucleotide variant |
DGUOK-related condition [RCV003896520] |
Chr2:73938891 [GRCh38]
Chr2:74166018 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.-10C>T |
single nucleotide variant |
DGUOK-related condition [RCV003949529] |
Chr2:73926901 [GRCh38]
Chr2:74154028 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.444-75TC[6] |
microsatellite |
DGUOK-related condition [RCV003972144] |
Chr2:73950510..73950511 [GRCh38]
Chr2:74177637..74177638 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.-5G>A |
single nucleotide variant |
DGUOK-related condition [RCV003941969] |
Chr2:73926906 [GRCh38]
Chr2:74154033 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_080916.3(DGUOK):c.-2G>T |
single nucleotide variant |
DGUOK-related condition [RCV003896587] |
Chr2:73926909 [GRCh38]
Chr2:74154036 [GRCh37]
Chr2:2p13.1 |
likely benign |
