Unique variants in the COQ2 gene

Information The variants shown are described using the NM_015697.7 transcript reference sequence.

45 entries on 1 page. Showing entries 1 - 45.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
?/. 1 - c.-90A>G r.(=) p.(=) - VUS g.84206157T>C g.83285004T>C - - COQ2_000003 - - - rs114115873 Germline - - - - - Andreas Laner
-/., -?/., ./., ?/. 6 - c.64A>T r.(?) p.(Arg22*), p.(Arg22Ter) - benign, likely benign, pathogenic, VUS g.84206004T>A g.83284851T>A COQ2(NM_015697.8):c.64A>T (p.R22*) - COQ2_000004 association variant/phenotype uncertain, VKGL data sharing initiative Nederland PubMed: DDDS 2015, Journal: DDDS 2015 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_VUmc, VKGL-NL_AMC
-/. 1 - c.73T>G r.(?) p.(Leu25Val) - benign g.84205995A>C g.83284842A>C COQ2(NM_015697.8):c.73T>G (p.L25V) - COQ2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.131del r.(?) p.(Arg44LeufsTer128) - VUS g.84205937del g.83284784del COQ2(NM_015697.7):c.131del (p.(Arg44LeufsTer128)), COQ2(NM_015697.8):c.131delG (p.R44Lfs*128) - COQ2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.173G>A r.(?) p.(Gly58Glu) - likely benign g.84205895C>T - COQ2(NM_015697.8):c.173G>A (p.G58E) - COQ2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 4 - c.196G>T r.(?) p.(Val66Leu) - benign g.84205872C>A g.83284719C>A COQ2(NM_015697.8):c.196G>T (p.V66L) - COQ2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_VUmc, VKGL-NL_AMC
-/., -?/. 2 - c.286C>T r.(?) p.(Pro96Ser) - benign, likely benign g.84205782G>A g.83284629G>A COQ2(NM_015697.8):c.286C>T (p.P96S) - COQ2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-/., -?/. 2 - c.287C>T r.(?) p.(Pro96Leu) - benign, likely benign g.84205781G>A g.83284628G>A COQ2(NM_015697.8):c.287C>T (p.P96L) - COQ2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.288C>T r.(?) p.(Pro96=) - likely benign g.84205780G>A - COQ2(NM_015697.8):c.288C>T (p.P96=) - COQ2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 3 - c.320G>C r.(?) p.(Ser107Thr) - likely benign, VUS g.84205748C>G g.83284595C>G COQ2(NM_015697.8):c.320G>C (p.S107T) - COQ2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC
+?/. 1 - c.338_341delinsG r.(?) p.(Val113_Val114delinsGly) ACMG VUS g.84205727_84205730delinsC - - - COQ2_000049 ACMG PM2, PM4, PP3 PubMed: Jurkute 2022 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.339G>T r.(?) p.(Val113=) - likely benign g.84205729C>A - COQ2(NM_015697.8):c.339G>T (p.V113=) - COQ2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 2 - c.344A>C r.(?) p.(Asp115Ala) - benign g.84205724T>G g.83284571T>G COQ2(NM_015697.8):c.344A>C (p.D115A) - COQ2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
?/. 1 - c.374T>G r.(?) p.(Leu125Trp) - VUS g.84205694A>C g.83284541A>C - - COQ2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.404-2A>G r.spl? p.? - pathogenic g.84200269T>C g.83279116T>C COQ2(NM_015697.8):c.404-2A>G - COQ2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.409T>C r.(?) p.(Trp137Arg) - VUS g.84200262A>G - COQ2(NM_015697.8):c.409T>C (p.W137R) - COQ2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 2 c.545T>G r.(?) p.(Met182Arg) - pathogenic (recessive) g.84200126A>C g.83278973A>C - - COQ2_000002 pathogenicity confirmed by yeast complementation PubMed: Desbats 2015, Journal: Desbats 2015 - - Germline yes - - - - Leonardo Salviati
-/., ?/. 2 - c.574A>G r.(?) p.(Thr192Ala) - benign, VUS g.84194767T>C g.83273614T>C COQ2(NM_015697.7):c.574A>G (p.(Thr192Ala)), COQ2(NM_015697.8):c.574A>G (p.T192A) - COQ2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Utrecht
-/., -?/., ?/. 3 - c.587A>G r.(?) p.(Asn196Ser) - benign, likely benign, VUS g.84194754T>C g.83273601T>C COQ2(NM_015697.7):c.587A>G (p.(Asn196Ser)), COQ2(NM_015697.8):c.587A>G (p.N196S) - COQ2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+?/. 1 - c.590G>A r.(?) p.(Arg197His) - likely pathogenic g.84194751C>T g.83273598C>T - - COQ2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.600C>T r.(?) p.(Ala200=) - likely benign g.84194741G>A - COQ2(NM_015697.8):c.600C>T (p.A200=) - COQ2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/., +?/. 4 - c.683A>G r.(?) p.(Asn228Ser) ACMG likely pathogenic, likely pathogenic (recessive), pathogenic (recessive) g.84194658T>C g.83273505T>C - - COQ2_000025 ACMG PS4, PM2, PM3, PP2, PP3, ACMG PS4, PM2, PP2, PP3, VKGL data sharing initiative Nederland PubMed: Jurkute 2022 - - CLASSIFICATION record, Germline yes - - - - Johan den Dunnen, VKGL-NL_Nijmegen
-?/. 1 - c.714C>T r.(?) p.(Ser238=) - likely benign g.84193304G>A g.83272151G>A COQ2(NM_015697.8):c.714C>T (p.S238=) - COQ2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.735C>G r.(?) p.(Tyr245*) - pathogenic (recessive) g.84193283G>C - - - COQ2_000048 ACMG PVS1, PM2, PP3, PP5 PubMed: Jurkute 2022 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.737C>T r.(?) p.(Pro246Leu) - VUS g.84193281G>A - COQ2(NM_015697.8):c.737C>T (p.P246L) - COQ2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.739C>T r.(?) p.(Leu247=) - likely benign g.84193279G>A g.83272126G>A COQ2(NM_015697.8):c.739C>T (p.L247=) - COQ2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.778+5G>A r.spl? p.? - VUS g.84193235C>T g.83272082C>T - - COQ2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.801G>A r.(?) p.(Ala267=) - likely benign g.84191124C>T - COQ2(NM_015697.8):c.801G>A (p.A267=) - COQ2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.883C>G r.(?) p.(Leu295Val) - VUS g.84191042G>C - COQ2(NM_015697.8):c.883C>G (p.L295V) - COQ2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.887T>C r.(?) p.(Ile296Thr) - likely benign g.84191038A>G - COQ2(NM_015697.8):c.887T>C (p.I296T) - COQ2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.890A>G r.(?) p.(Tyr297Cys) - pathogenic g.84191035T>C g.83269882T>C - - COQ2_000034 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121918230 Germline - 1/2771 individuals - - - Mohammed Faruq
-/. 3 - c.894T>C r.(?) p.(Asp298=) - benign g.84191031A>G g.83269878A>G COQ2(NM_015697.8):c.894T>C (p.D298=) - COQ2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_VUmc, VKGL-NL_AMC
?/. 1 - c.898A>G r.(?) p.(Ile300Val) - VUS g.84191027T>C g.83269874T>C COQ2(NM_015697.8):c.898A>G (p.I300V) - COQ2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.905C>G r.(?) p.(Ala302Gly) - VUS g.84191020G>C - COQ2(NM_015697.8):c.905C>G (p.A302G) - COQ2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.913-86dup r.(=) p.(=) - benign g.84189019dup g.83267866dup COQ2(NM_015697.8):c.913-86dupA - COQ2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.913-7A>G r.(=) p.(=) - likely benign g.84188934T>C g.83267781T>C COQ2(NM_015697.8):c.913-7A>G - COQ2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.988A>C r.(?) p.(Ser330Arg) - likely benign g.84188852T>G g.83267699T>G - - COQ2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 3 - c.990C>T r.(?) p.(Ser330=) - benign g.84188850G>A g.83267697G>A COQ2(NM_015697.8):c.990C>T (p.S330=) - COQ2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_VUmc, VKGL-NL_AMC
-/. 1 - c.1101+153C>T r.(=) p.(=) - benign g.84188586G>A g.83267433G>A COQ2(NM_015697.8):c.1101+153C>T - COQ2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 3 - c.1107C>T r.(?) p.(Tyr369=) - benign g.84185511G>A g.83264358G>A COQ2(NM_015697.8):c.1107C>T (p.Y369=) - COQ2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC
+/. 1 - c.1139G>A r.(?) p.(Trp380Ter) - pathogenic g.84185479C>T g.83264326C>T COQ2(NM_015697.8):c.1139G>A (p.W380*) - COQ2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1178T>C r.(?) p.(Val393Ala) - likely benign g.84185440A>G - COQ2(NM_015697.8):c.1178T>C (p.V393A) - COQ2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 7 c.1184dup r.(?) p.(Leu395PhefsTer24) - likely pathogenic g.84185440dup g.83264287dup c.1184dupT - COQ2_000038 - PubMed: Ganapathy 2019 - rs763059203 Germline - - - - - Johan den Dunnen
?/. 1 - c.1196_1197del r.(?) p.(Leu399Argfs*19) - VUS g.84185421_84185422del g.83264268_83264269del - - COQ2_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - c.1220_1222del r.(?) p.(Lys407del) - VUS g.84185400_84185402del - COQ2(NM_015697.8):c.1220_1222delAGA (p.K407del) - COQ2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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