ClinVar Miner

Variants with conflicting interpretations studied for Mitochondrial complex I deficiency

Coded as:
Minimum review status of the submission for Mitochondrial complex I deficiency: Y axis collection method of the submission for Mitochondrial complex I deficiency:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
230 167 0 45 62 0 8 110

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Mitochondrial complex I deficiency pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 2 0 0 0
likely pathogenic 6 0 4 0 0
uncertain significance 0 4 0 33 35
likely benign 0 0 1 0 32
benign 0 0 1 6 0

Condition to condition summary #

Total conditions: 14
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
not specified 0 11 0 23 57 0 0 80
not provided 0 21 0 29 14 0 6 47
Deficiency of guanidinoacetate methyltransferase 0 3 0 4 0 0 0 4
Inborn genetic diseases 0 0 0 3 0 0 1 4
History of neurodevelopmental disorder 0 0 0 1 1 0 0 2
Mitochondrial complex I deficiency, nuclear type 1 0 3 0 1 0 0 1 2
Osteopetrosis 0 0 0 1 1 0 0 2
Cockayne syndrome 0 2 0 1 0 0 0 1
Leigh syndrome 0 208 0 1 0 0 0 1
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 0 0 0 1 0 0 0 1
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 0 0 0 1 0 0 0 1
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4 0 0 0 1 0 0 0 1
Mitochondrial complex I deficiency 501 5 0 1 0 0 0 1
Parkinson disease, mitochondrial 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 110
Download table as spreadsheet
HGVS dbSNP
NM_000156.5(GAMT):c.*146A>C rs659455
NM_000156.5(GAMT):c.571-6G>A rs2074899
NM_000156.5(GAMT):c.626C>T (p.Thr209Met) rs17851582
NM_001199981.1(NDUFS1):c.1143A>G (p.Arg381=) rs1801318
NM_001199981.1(NDUFS1):c.858G>T (p.Ala286=) rs1127566
NM_001257102.1(NDUFB3):c.64T>C (p.Trp22Arg) rs142609245
NM_002488.4(NDUFA2):c.-50G>A rs143857164
NM_002495.2(NDUFS4):c.198A>C (p.Gly66=) rs31304
NM_002495.3(NDUFS4):c.102G>A (p.Ser34=) rs138941073
NM_002495.3(NDUFS4):c.12G>C (p.Val4=) rs2279516
NM_002495.3(NDUFS4):c.312A>G (p.Arg104=) rs31303
NM_002495.3(NDUFS4):c.351-11_351-8delGTTT rs375549253
NM_002496.3(NDUFS8):c.*14C>T rs1051806
NM_002496.3(NDUFS8):c.*40A>G rs61329983
NM_002496.3(NDUFS8):c.299C>T (p.Ala100Val) rs748754134
NM_002496.3(NDUFS8):c.459C>T (p.Cys153=) rs149201273
NM_002496.3(NDUFS8):c.502-10C>T rs369961682
NM_002496.3(NDUFS8):c.502-13C>T rs199793417
NM_002496.3(NDUFS8):c.597C>T (p.Ile199=) rs1804688
NM_002496.3(NDUFS8):c.64C>T (p.Pro22Ser) rs369602258
NM_004541.3(NDUFA1):c.94G>C (p.Gly32Arg) rs1801316
NM_004544.3(NDUFA10):c.1000-3C>G rs199648872
NM_004544.3(NDUFA10):c.1000-5delC rs138479490
NM_004544.3(NDUFA10):c.105A>G (p.Lys35=) rs2083411
NM_004544.3(NDUFA10):c.24G>A (p.Leu8=) rs113012830
NM_004544.3(NDUFA10):c.548-9A>G rs147876332
NM_004544.3(NDUFA10):c.549T>C (p.Cys183=) rs149783296
NM_004544.3(NDUFA10):c.5C>G (p.Ala2Gly) rs11541494
NM_004544.3(NDUFA10):c.771A>G (p.Gln257=) rs13848
NM_004550.4(NDUFS2):c.-20C>T rs201554004
NM_004550.4(NDUFS2):c.1054C>G (p.Pro352Ala) rs11576415
NM_004550.4(NDUFS2):c.1290C>T (p.Ala430=) rs1136207
NM_004550.4(NDUFS2):c.1354+5G>A rs190184430
NM_004550.4(NDUFS2):c.514+11C>T rs76309459
NM_004550.4(NDUFS2):c.58C>A (p.Pro20Thr) rs11538340
NM_004550.4(NDUFS2):c.628-12C>T rs202121443
NM_004550.4(NDUFS2):c.702+14_702+17dupCGGC rs776704187
NM_004550.4(NDUFS2):c.875T>C (p.Met292Thr) rs150667550
NM_004550.4(NDUFS2):c.959T>C (p.Val320Ala) rs144937332
NM_004550.4(NDUFS2):c.986+12A>G rs11265565
NM_004551.2(NDUFS3):c.628-7C>T rs11039306
NM_004551.2(NDUFS3):c.79C>T (p.Pro27Ser) rs368907187
NM_004551.2(NDUFS3):c.91T>C (p.Leu31=) rs770306617
NM_004553.4(NDUFS6):c.*15C>T rs200445799
NM_004553.4(NDUFS6):c.-12C>T rs145747389
NM_005006.6(NDUFS1):c.123C>T (p.Val41=) rs2230888
NM_005006.6(NDUFS1):c.1291C>G (p.Leu431Val) rs78042826
NM_005006.6(NDUFS1):c.1371G>A (p.Ser457=) rs2230892
NM_005006.6(NDUFS1):c.154-10_154-9delTT rs568965659
NM_005006.6(NDUFS1):c.414T>C (p.Asp138=) rs11548670
NM_005006.6(NDUFS1):c.421-7A>G rs192949406
NM_005006.6(NDUFS1):c.551+14C>A rs10206644
NM_005006.6(NDUFS1):c.975C>T (p.Arg325=) rs2230890
NM_007103.3(NDUFV1):c.-45T>G rs373940385
NM_007103.3(NDUFV1):c.1056T>C (p.Ala352=) rs11227859
NM_007103.3(NDUFV1):c.1268C>T (p.Thr423Met) rs121913659
NM_007103.3(NDUFV1):c.150C>T (p.Asp50=) rs11540012
NM_007103.3(NDUFV1):c.205C>T (p.Leu69=) rs199543483
NM_007103.3(NDUFV1):c.366G>A (p.Pro122=) rs140445386
NM_007103.3(NDUFV1):c.549C>G (p.Gly183=) rs10896187
NM_007103.3(NDUFV1):c.72+15G>T rs187400726
NM_014165.3(NDUFAF4):c.241-9dupT rs34213186
NM_014165.3(NDUFAF4):c.420G>A (p.Gln140=) rs11402
NM_014165.3(NDUFAF4):c.430T>C (p.Leu144=) rs6684
NM_014165.3(NDUFAF4):c.491T>A (p.Phe164Tyr) rs201754378
NM_014324.5(AMACR):c.844G>C (p.Glu282Gln) rs181341030
NM_016013.3(NDUFAF1):c.-6T>G rs180730324
NM_016013.3(NDUFAF1):c.215C>G (p.Thr72Ser) rs200472799
NM_016013.3(NDUFAF1):c.26G>A (p.Arg9His) rs1899
NM_016013.3(NDUFAF1):c.526G>A (p.Glu176Lys) rs35227875
NM_016013.3(NDUFAF1):c.553A>G (p.Met185Val) rs372385045
NM_016013.3(NDUFAF1):c.855C>T (p.Thr285=) rs145122315
NM_016013.3(NDUFAF1):c.909G>A (p.Val303=) rs73407109
NM_016013.3(NDUFAF1):c.92G>T (p.Arg31Leu) rs3204853
NM_016013.3(NDUFAF1):c.941C>G (p.Ala314Gly) rs12900702
NM_017547.3(FOXRED1):c.-31A>G rs368307265
NM_017547.3(FOXRED1):c.1020G>C (p.Pro340=) rs143739550
NM_017547.3(FOXRED1):c.10A>G (p.Arg4Gly) rs149883459
NM_017547.3(FOXRED1):c.1139A>G (p.His380Arg) rs7116126
NM_017547.3(FOXRED1):c.124A>C (p.Lys42Gln) rs148346044
NM_017547.3(FOXRED1):c.406C>T (p.Arg136Trp) rs373075574
NM_017547.3(FOXRED1):c.433G>A (p.Val145Ile) rs34542988
NM_017547.3(FOXRED1):c.435C>T (p.Val145=) rs147235743
NM_017547.3(FOXRED1):c.612_615dupAGTG (p.Ala206Serfs) rs398124308
NM_017547.3(FOXRED1):c.9G>A (p.Arg3=) rs28372779
NM_021074.4(NDUFV2):c.201A>T (p.Val67=) rs41274300
NM_021074.4(NDUFV2):c.510T>C (p.Thr170=) rs201074358
NM_021074.4(NDUFV2):c.580-12T>A rs114558512
NM_021074.4(NDUFV2):c.86T>C (p.Val29Ala) rs906807
NM_024120.4(NDUFAF5):c.749G>T (p.Gly250Val) rs757043077
NM_024120.4(NDUFAF5):c.836T>G (p.Met279Arg) rs761389904
NM_024407.4(NDUFS7):c.*13C>A rs11551663
NM_024407.4(NDUFS7):c.153C>T (p.Ala51=) rs140236960
NM_024407.4(NDUFS7):c.408+10G>T rs2074896
NM_024407.4(NDUFS7):c.68C>T (p.Pro23Leu) rs1142530
NM_025152.2(NUBPL):c.-13A>G rs754769393
NM_025152.2(NUBPL):c.-1C>T rs45468395
NM_025152.2(NUBPL):c.-7C>T rs201073307
NM_025152.2(NUBPL):c.162C>T (p.Ser54=) rs34570972
NM_025152.2(NUBPL):c.311T>C (p.Leu104Pro) rs201430951
NM_025152.2(NUBPL):c.545T>C (p.Val182Ala) rs61752327
NM_025152.2(NUBPL):c.639C>T (p.Ile213=) rs35330765
NM_025152.2(NUBPL):c.685C>T (p.His229Tyr) rs35867418
NM_025152.2(NUBPL):c.77G>T (p.Gly26Val) rs77539990
NM_025152.2(NUBPL):c.815-27T>C rs118161496
NM_174889.4(NDUFAF2):c.-91C>T rs4647036
NM_174889.4(NDUFAF2):c.462T>C (p.Phe154=) rs77878573
NM_174889.4(NDUFAF2):c.60G>A (p.Lys20=) rs158921
NM_175614.4(NDUFA11):c.138G>A (p.Pro46=) rs138889960
NM_199069.1(NDUFAF3):c.180_181insT (p.Asp61Terfs) rs752864722

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.