Unique variants in the ACO2 gene

A database from the MITOchondrial DYNamics variation portal.
Classification of variants: please note that where there are several records of the same variant, the classification
of that variant may be contradictory depending on the submitter’s conclusion. For the curator’s opinion on the
classification of the variant, please view the SUMMARY record.
Information The variants shown are described using the NM_001098.2 transcript reference sequence.

129 entries on 2 pages. Showing entries 1 - 100.
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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 _1 c.-504T>C r.(?) p.(=) - VUS g.41864647T>C g.41468643T>C PHF5A(NM_032758.4):c.11A>G (p.H4R) - PHF5A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 _1 c.-494T>A r.(?) p.(=) - VUS g.41864657T>A g.41468653T>A - - ACO2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, SUMMARY record - - - - - VKGL-NL_Nijmegen, Marc Ferre
+/. 2 1i c.36+5del r.spl? p.? - pathogenic (recessive) g.41865191del g.41469187del - - ACO2_000084 - Charif et al. (in progress) - - SUMMARY record, Germline yes - - - - Marc Ferre, Khadidja Guehlouz
-/. 2 2 c.72A>G r.(?) p.(=), p.(Ser24=) - benign g.41895765A>G g.41499761A>G ACO2(NM_001098.2):c.72A>G (p.S24=) - ACO2_000003 VKGL data sharing initiative Nederland - - - SUMMARY record, CLASSIFICATION record - - - - - Marc Ferre, VKGL-NL_AMC
-/. 2 2 c.84A>G r.(?) p.(Gln28=), p.(=) - benign g.41895777A>G g.41499773A>G ACO2(NM_001098.2):c.84A>G (p.Q28=) - ACO2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, SUMMARY record - - - - - VKGL-NL_AMC, Marc Ferre
+/. 2 2 c.166C>T r.(?) p.(Arg56Cys) - pathogenic (dominant) g.41895859C>T g.41499855C>T - - ACO2_000085 - Charif et al. (in progress) - - SUMMARY record, Germline/De novo (untested) yes - - - - Marc Ferre, Khadidja Guehlouz
+/. 2 2 c.172C>T r.(?) p.(Arg58*) - pathogenic (dominant) g.41895865C>T g.41499861C>T - - ACO2_000050 - Charif et al. (in progress) - - SUMMARY record, Germline/De novo (untested) - - - - - Marc Ferre, Khadidja Guehlouz
-?/. 2 3 c.180C>G r.(?) p.(Asn60Lys) - likely benign g.41903801C>G g.41507797C>G ACO2(NM_001098.2):c.180C>G (p.N60K) - ACO2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, SUMMARY record - - - - - VKGL-NL_Groningen, Marc Ferre
-/. 3 3 c.192A>C r.(?) p.(=), p.(Thr64=) - benign g.41903813A>C g.41507809A>C ACO2(NM_001098.2):c.192A>C (p.T64=) - ACO2_000004 VKGL data sharing initiative Nederland - - - SUMMARY record, CLASSIFICATION record - - - - - Marc Ferre, VKGL-NL_Nijmegen, VKGL-NL_Groningen
+/. 5 3 c.196_197del r.(?) p.(Ser66Glyfs*10) - pathogenic (dominant) g.41903817_41903818del g.41507813_41507814del - - ACO2_000057 - Charif et al. (in progress) - - SUMMARY record, Germline yes, no - - - - Marc Ferre, Khadidja Guehlouz
-/?, ?/., +?/., +/., -/+? 20 3 c.220C>G r.(?) p.(Leu74Val) - likely benign, VUS, likely pathogenic (recessive), benign g.41903841C>G g.41507837C>G ACO2(NM_001098.2):c.220C>G (p.L74V) - ACO2_000005 VKGL data sharing initiative Nederland, 1 more item Charif et al. (in progress), PubMed: Metodiev 2014, PubMed: Kelman 2018, 1 more item - rs141772938 SUMMARY record, CLASSIFICATION record, Germline/De novo (untested), Germline, De novo yes, - 6/2793 individuals - - - Marc Ferre, VKGL-NL_Groningen, Khadidja Guehlouz, Thomas Foulonneau, VKGL-NL_AMC, Mohammed Faruq
-/. 2 3 c.231C>T r.(?) p.(=), p.(Pro77=) - benign g.41903852C>T g.41507848C>T ACO2(NM_001098.2):c.231C>T (p.P77=) - ACO2_000006 VKGL data sharing initiative Nederland - - - SUMMARY record, CLASSIFICATION record - - - - - Marc Ferre, VKGL-NL_AMC
+/. 2 3 c.275G>A r.(?) p.(Arg92Gln) - pathogenic (dominant) g.41903896G>A g.41507892G>A - - ACO2_000103 - Charif et al. (in progress) - - SUMMARY record, Germline/De novo (untested) yes - - - - Marc Ferre, Khadidja Guehlouz
-/., -?/. 3 3 c.282C>T r.(?) p.(=), p.(Asp94=) - benign, likely benign g.41903903C>T g.41507899C>T ACO2(NM_001098.2):c.282C>T (p.D94=) - ACO2_000007 VKGL data sharing initiative Nederland - - - SUMMARY record, CLASSIFICATION record - - - - - Marc Ferre, VKGL-NL_Rotterdam, VKGL-NL_AMC
?/. 2 3 c.316G>A r.(?) p.(Ala106Thr) - VUS g.41903937G>A g.41507933G>A ACO2(NM_001098.2):c.316G>A (p.A106T) - ACO2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, SUMMARY record - - - - - VKGL-NL_AMC, Marc Ferre
+/. 2 3 c.323T>C r.(?) p.(Leu108Pro) - pathogenic (dominant) g.41903944T>C g.41507940T>C - - ACO2_000051 - Charif et al. (in progress) - - SUMMARY record, Germline/De novo (untested) - - - - - Marc Ferre, Khadidja Guehlouz
+?/., +/. 11 3 c.336C>G r.(?) p.(Ser112Arg) - pathogenic (recessive) g.41903957C>G g.41507953C>G - - ACO2_000001 Not in 256 control chromosomes PubMed: Spiegel 2012, PubMed: Abela 2017, PubMed: Sadat 2016 - - SUMMARY record, Germline yes - - - - Marc Ferre, Thomas Foulonneau
?/. 1 - c.365C>T r.(?) p.(Ser122Phe) - VUS g.41903986C>T - ACO2(NM_001098.2):c.365C>T (p.S122F) - ACO2_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 2 3i c.432+19T>C r.(=) p.(=) - benign g.41904072T>C g.41508068T>C ACO2(NM_001098.2):c.432+19T>C - ACO2_000008 VKGL data sharing initiative Nederland - - - SUMMARY record, CLASSIFICATION record - - - - - Marc Ferre, VKGL-NL_AMC
+/., -/+? 4 4 c.441C>G r.(?) p.(Asn147Lys) - pathogenic (dominant), likely pathogenic (dominant) g.41907888C>G g.41511884C>G - - ACO2_000052 Non affected Charif et al. (in progress) - - SUMMARY record, Germline, Germline/De novo (untested) yes, - - - - - Marc Ferre, Khadidja Guehlouz
+/. 2 4 c.487G>A r.(?) p.(Val163Met) - likely pathogenic (recessive) g.41907934G>A g.41511930G>A - - ACO2_000104 - Charif et al. (in progress) - - SUMMARY record, Germline yes - - - - Marc Ferre, Khadidja Guehlouz
+/. 3 4 c.487G>T r.(?) p.(Val163Leu) - likely pathogenic (recessive) g.41907934G>T g.41511930G>T - - ACO2_000121 - PubMed: 32449285 - - Germline, SUMMARY record yes - - - - Khadidja Guehlouz, Marc Ferre
+/. 2 4 c.514A>C r.(?) p.(Ile172Leu) - pathogenic (dominant) g.41907961A>C g.41511957A>C - - ACO2_000053 - Charif et al. (in progress) - - SUMMARY record, Germline/De novo (untested) yes - - - - Marc Ferre, Khadidja Guehlouz
+/. 2 4i c.525+1G>A r.spl? p.? - likely pathogenic (recessive) g.41907973G>A g.41511969G>A - - ACO2_000105 - Charif et al. (in progress) - - SUMMARY record, De novo yes - - - - Marc Ferre, Khadidja Guehlouz
-?/. 2 4i c.525+6G>A r.(=) p.(=) - likely benign g.41907978G>A g.41511974G>A ACO2(NM_001098.2):c.525+6G>A - ACO2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, SUMMARY record - - - - - VKGL-NL_Rotterdam, Marc Ferre
+/. 2 4i c.526-2A>G r.spl? p.? - pathogenic (dominant) g.41911379A>G g.41515375A>G - - ACO2_000054 - Charif et al. (in progress) - - SUMMARY record, Germline no - - - - Marc Ferre, Khadidja Guehlouz
-/. 2 5 c.573T>C r.(?) p.(Thr191=), p.(=) - benign g.41911428T>C g.41515424T>C ACO2(NM_001098.2):c.573T>C (p.T191=) - ACO2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, SUMMARY record - - - - - VKGL-NL_AMC, Marc Ferre
+?/. 2 4 c.575A>G r.(?) p.(Asp192Gly) - pathogenic (dominant) g.41911430A>G g.41515426A>G - - ACO2_000055 - Charif et al. (in progress) - - SUMMARY record, Germline/De novo (untested) - - - - - Marc Ferre, Khadidja Guehlouz
+/. 2 4 c.610A>C r.(?) p.(Ile204Leu) - likely pathogenic (recessive) g.41911465A>C g.41515461A>C - - ACO2_000106 - Charif et al. (in progress) - - Germline/De novo (untested), SUMMARY record yes - - - - Khadidja Guehlouz, Marc Ferre
-/. 2 4 c.670C>T r.(?) p.(Leu224=), p.(=) - benign g.41911525C>T g.41515521C>T - - ACO2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, SUMMARY record - - - - - VKGL-NL_Nijmegen, Marc Ferre
+/. 2 4 c.680C>A r.(?) p.(Pro227His) - pathogenic (dominant) g.41911535C>A g.41515531C>A - - ACO2_000107 - Charif et al. (in progress) - - SUMMARY record, Germline/De novo (untested) yes - - - - Marc Ferre, Khadidja Guehlouz
+/. 2 5i c.684+1G>T r.spl? p.? - likely pathogenic (dominant) g.41911540G>T g.41515536G>T - - ACO2_000120 18 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs747330606 SUMMARY record, Germline - 18/2645 individuals - - - Marc Ferre, Mohammed Faruq
+/. 3 6 c.718G>A r.(?) p.(Gly240Ser) - pathogenic (dominant) g.41911804G>A g.41515800G>A - - ACO2_000056 - Charif et al. (in progress) - - SUMMARY record, Germline, Germline/De novo (untested) yes, no - - - - Marc Ferre, Khadidja Guehlouz
?/., +/+, +/. 7 6 c.719G>C r.(?) p.(Gly240Ala) - VUS, pathogenic (recessive), likely pathogenic (recessive) g.41911805G>C g.41515801G>C ACO2(NM_001098.2):c.719G>C (p.G240A) - ACO2_000002 VKGL data sharing initiative Nederland Charif et al. (in progress) - - SUMMARY record, CLASSIFICATION record, Germline/De novo (untested), Germline yes - - - - Marc Ferre, VKGL-NL_Nijmegen, VKGL-NL_Rotterdam, VKGL-NL_Groningen, Khadidja Guehlouz, Claire Guissart
+/. 2 6 c.740T>C r.(?) p.(Val247Ala) - pathogenic (dominant) g.41911826T>C g.41515822T>C - - ACO2_000058 - Charif et al. (in progress) - - SUMMARY record, Germline/De novo (untested) yes - - - - Marc Ferre, Khadidja Guehlouz
+/., -?/+? 4 6 c.741del r.(?) p.(Ile248Serfs*2) - pathogenic (dominant), likely pathogenic (dominant) g.41911827del g.41515823del - - ACO2_000059 - Charif et al. (in progress) - - SUMMARY record, Germline, Germline/De novo (untested) yes - - - - Marc Ferre, Khadidja Guehlouz
+/. 3 6 c.776G>A r.(?) p.(Gly259Asp) - likely pathogenic (recessive), likely pathogenic g.41911862G>A g.41515858G>A - - ACO2_000023 - PubMed: Metodiev 2014 - - SUMMARY record, Germline yes - - - - Marc Ferre, Thomas Foulonneau
+/. 2 6 c.812G>A r.(?) p.(Gly271Asp) - pathogenic (recessive) g.41911898G>A g.41515894G>A - - ACO2_000108 - Charif et al. (in progress) - - SUMMARY record, Germline/De novo (untested) yes - - - - Marc Ferre, Khadidja Guehlouz
+?/. 2 6i c.836-2A>C r.spl? p.? - likely pathogenic g.41913529A>C g.41517525A>C ACO2(NM_001098.2):c.836-2A>C - ACO2_000009 VKGL data sharing initiative Nederland - - - SUMMARY record, CLASSIFICATION record - - - - - Marc Ferre, VKGL-NL_AMC
+/. 2 7 c.935G>A r.(?) p.(Arg312Gln) - pathogenic (dominant) g.41913630G>A g.41517626G>A - - ACO2_000060 - Charif et al. (in progress) - - SUMMARY record, Germline yes - - - - Marc Ferre, Khadidja Guehlouz
?/. 2 8 c.978G>T r.(?) p.(Leu326Phe) - VUS g.41914522G>T g.41518518G>T ACO2(NM_001098.2):c.978G>T (p.L326F) - ACO2_000010 VKGL data sharing initiative Nederland - - - SUMMARY record, CLASSIFICATION record - - - - - Marc Ferre, VKGL-NL_Rotterdam
-?/. 1 8 c.988C>T r.(?) p.(Pro330Ser) - likely benign g.41914532C>T g.41518528C>T - - ACO2_000011 - - - - SUMMARY record - - - - - Marc Ferre
+/. 2 8i c.1032+1G>C r.spl? p.? - pathogenic (dominant) g.41914577G>C g.41518573G>C - - ACO2_000061 - Charif et al. (in progress) - - SUMMARY record, Germline/De novo (untested) yes - - - - Marc Ferre, Khadidja Guehlouz
+/. 2 8i c.1032+2T>C r.spl? p.? - pathogenic (dominant) g.41914578T>C g.41518574T>C - - ACO2_000062 - Charif et al. (in progress) - - SUMMARY record, Germline/De novo (untested) yes - - - - Marc Ferre, Khadidja Guehlouz
+/. 3 8i c.1032+5G>A r.spl? p.? - pathogenic (dominant) g.41914581G>A g.41518577G>A - - ACO2_000063 - Charif et al. (in progress) - - SUMMARY record, Germline, Germline/De novo (untested) yes - - - - Marc Ferre, Khadidja Guehlouz
-/. 3 8i c.1032+17C>T r.(=) p.(=) - benign g.41914593C>T g.41518589C>T ACO2(NM_001098.2):c.1032+17C>T - ACO2_000012 VKGL data sharing initiative Nederland - - - SUMMARY record, CLASSIFICATION record - - - - - Marc Ferre, VKGL-NL_Nijmegen, VKGL-NL_Groningen
+?/., +/. 3 9 c.1064C>G r.(?) p.(Pro355Arg) - pathogenic (recessive) g.41916206C>G g.41520202C>G - - ACO2_000086 - Charif et al. (in progress) - - Germline/De novo (untested), SUMMARY record yes - - - - Khadidja Guehlouz, Marc Ferre
+?/. 2 9 c.1091T>C r.(?) p.(Val364Ala) - likely pathogenic (recessive) g.41916233T>C g.41520229T>C - - ACO2_000024 - PubMed: Srivastava 2017 - - SUMMARY record, Germline yes - - - - Marc Ferre, Thomas Foulonneau
-/., -?/. 3 9 c.1113A>G r.(?) p.(Glu371=), p.(=) - benign, likely benign g.41916255A>G g.41520251A>G ACO2(NM_001098.2):c.1113A>G (p.E371=) - ACO2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, SUMMARY record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam, Marc Ferre
+/., +?/. 3 9 c.1132C>T r.(?) p.(Arg378*) - pathogenic (dominant) g.41916274C>T g.41520270C>T - - ACO2_000064 - Charif et al. (in progress) - - SUMMARY record, Germline/De novo (untested) yes, - - - - - Marc Ferre, Khadidja Guehlouz
+/. 2 10 c.1181G>A r.(?) p.(Gly394Glu) ACMG pathogenic (recessive) g.41918876G>A g.41522872G>A - - ACO2_000123 - PubMed: Helbig 2016 - - Germline, SUMMARY record - - - - - Johan den Dunnen, Marc Ferre
+/. 3 10 c.1237C>T r.(?) p.(Gln413*) - pathogenic (dominant) g.41918932C>T g.41522928C>T - - ACO2_000065 - Charif et al. (in progress) - - SUMMARY record, Germline/De novo (untested) - - - - - Marc Ferre, Khadidja Guehlouz
+/. 3 10 c.1240T>G r.(?) p.(Phe414Val) - likely pathogenic (recessive) g.41918935T>G g.41522931T>G - - ACO2_000025 - PubMed: Bouwcamp 2018, PubMed: Bouwcamp 2018 - - SUMMARY record, Germline yes - - - - Marc Ferre, Thomas Foulonneau
+/. 2 10 c.1254dup r.(?) p.(Gly419Argfs*10) - pathogenic (dominant) g.41918949dup g.41522945dup - - ACO2_000066 Both non affected parents don't carry the variant Charif et al. (in progress) - - SUMMARY record, De novo yes - - - - Marc Ferre, Khadidja Guehlouz
?/. 2 10 c.1276A>G r.(?) p.(Thr426Ala) - VUS g.41918971A>G g.41522967A>G ACO2(NM_001098.2):c.1276A>G (p.(Thr426Ala)) - ACO2_000013 VKGL data sharing initiative Nederland - - - SUMMARY record, CLASSIFICATION record - - - - - Marc Ferre, VKGL-NL_Leiden
+/. 2 10 c.1291G>A r.(?) p.(Gly431Ser) - pathogenic (dominant) g.41918986G>A g.41522982G>A - - ACO2_000067 - Charif et al. (in progress) - - SUMMARY record, Germline/De novo (untested) yes - - - - Marc Ferre, Khadidja Guehlouz
-/. 2 10i c.1296+18C>T r.(=) p.(=) - benign g.41919009C>T g.41523005C>T ACO2(NM_001098.2):c.1296+18C>T - ACO2_000014 VKGL data sharing initiative Nederland - - - SUMMARY record, CLASSIFICATION record - - - - - Marc Ferre, VKGL-NL_AMC
+/. 2 10i c.1297-1G>C r.spl? p.? - pathogenic (recessive) g.41919208G>C g.41523204G>C - - ACO2_000109 - Charif et al. (in progress) - - SUMMARY record, Germline/De novo (untested) yes - - - - Marc Ferre, Khadidja Guehlouz
+/. 2 11 c.1300C>T r.(?) p.(Gln434*) - pathogenic (dominant) g.41919212C>T g.41523208C>T - - ACO2_000068 - Charif et al. (in progress) - - SUMMARY record, Germline/De novo (untested) yes - - - - Marc Ferre, Khadidja Guehlouz
+/. 2 11i c.1370+1G>A r.spl? p.? - pathogenic (dominant) g.41919283G>A g.41523279G>A - - ACO2_000069 - Charif et al. (in progress) - - SUMMARY record, De novo yes - - - - Marc Ferre, Khadidja Guehlouz
+/. 2 12 c.1387G>C r.(?) p.(Gly463Arg) - pathogenic (dominant) g.41919850G>C g.41523846G>C - - ACO2_000070 - Charif et al. (in progress) - - SUMMARY record, Germline/De novo (untested) yes - - - - Marc Ferre, Khadidja Guehlouz
+/. 2 12 c.1390G>T r.(?) p.(Glu464*) - pathogenic (recessive) g.41919853G>T g.41523849G>T - - ACO2_000087 - Charif et al. (in progress) - - SUMMARY record, De novo yes - - - - Marc Ferre, Khadidja Guehlouz
+/. 2 12 c.1406T>A r.(?) p.(Val469Asp) - pathogenic (recessive) g.41919869T>A g.41523865T>A - - ACO2_000110 - Charif et al. (in progress) - - SUMMARY record, Germline/De novo (untested) yes - - - - Marc Ferre, Khadidja Guehlouz
+/. 2 12 c.1411T>C r.(?) p.(Ser471Pro) - pathogenic (dominant) g.41919874T>C g.41523870T>C - - ACO2_000071 - Charif et al. (in progress) - - SUMMARY record, Germline/De novo (untested) yes - - - - Marc Ferre, Khadidja Guehlouz
+/. 2 12 c.1420A>G r.(?) p.(Arg474Gly) - pathogenic (dominant) g.41919883A>G g.41523879A>G - - ACO2_000072 - Charif et al. (in progress) - - SUMMARY record, Germline/De novo (untested) yes - - - - Marc Ferre, Khadidja Guehlouz
+/. 2 12 c.1425C>G r.(?) p.(Asn475Lys) - pathogenic (dominant) g.41919888C>G g.41523884C>G - - ACO2_000073 - Charif et al. (in progress) - - SUMMARY record, Germline yes - - - - Marc Ferre, Khadidja Guehlouz
+/. 2 12 c.1444G>A r.(?) p.(Ala482Thr) - pathogenic (dominant) g.41919907G>A g.41523903G>A - - ACO2_000111 - Charif et al. (in progress) - - Germline/De novo (untested), SUMMARY record yes - - - - Khadidja Guehlouz, Marc Ferre
+/. 2 12 c.1452_1459del r.(?) p.(Glu485Cysfs*44) - pathogenic (dominant) g.41919915_41919922del g.41523911_41523918del - - ACO2_000074 - Charif et al. (in progress) - - Germline, SUMMARY record yes - - - - Khadidja Guehlouz, Marc Ferre
+/. 2 12 c.1454A>G r.(?) p.(Glu485Gly) - pathogenic (dominant) g.41919917A>G g.41523913A>G - - ACO2_000075 - Charif et al. (in progress) - - Germline/De novo (untested), SUMMARY record yes - - - - Khadidja Guehlouz, Marc Ferre
+/. 2 13 c.1508G>A r.(?) p.(Gly503Glu) - pathogenic (recessive) g.41920875G>A g.41524871G>A - - ACO2_000112 - Charif et al. (in progress) - - SUMMARY record, De novo yes - - - - Marc Ferre, Khadidja Guehlouz
+?/. 2 13 c.1534G>A r.(?) p.(Asp512Asn) - likely pathogenic (recessive) g.41920901G>A g.41524897G>A - - ACO2_000046 - PubMed: Fukada 2019 - - SUMMARY record, Germline yes - - - - Marc Ferre, Thomas Foulonneau
+/. 2 13 c.1561A>T r.(?) p.(Lys521*) - pathogenic (dominant) g.41920928A>T g.41524924A>T - - ACO2_000113 - Charif et al. (in progress) - - Germline/De novo (untested), SUMMARY record yes - - - - Khadidja Guehlouz, Marc Ferre
-/. 2 13 c.1581G>A r.(?) p.(=), p.(Pro527=) - benign g.41920948G>A g.41524944G>A ACO2(NM_001098.2):c.1581G>A (p.P527=) - ACO2_000015 VKGL data sharing initiative Nederland - - - SUMMARY record, CLASSIFICATION record - - - - - Marc Ferre, VKGL-NL_AMC
-?/. 2 13i c.1605+3G>A r.spl? p.? - likely benign g.41920975G>A g.41524971G>A ACO2(NM_001098.2):c.1605+3G>A - ACO2_000016 VKGL data sharing initiative Nederland - - - SUMMARY record, CLASSIFICATION record - - - - - Marc Ferre, VKGL-NL_Rotterdam
-?/. 2 14 c.1671C>T r.(?) p.(Asp557=), p.(=) - likely benign g.41921262C>T g.41525258C>T ACO2(NM_001098.2):c.1671C>T (p.D557=) - ACO2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, SUMMARY record - - - - - VKGL-NL_AMC, Marc Ferre
+/. 2 14 c.1690C>T r.(?) p.(Arg564Cys) - likely pathogenic (recessive) g.41921281C>T g.41525277C>T - - ACO2_000114 - Charif et al. (in progress) - - Germline/De novo (untested), SUMMARY record yes - - - - Khadidja Guehlouz, Marc Ferre
+/+ 1 14 c.1704_1717dup r.(?) p.(Lys573Argfs*92) - pathogenic (recessive) g.41921295_41921308dup - - - ACO2_000126 - - - - Germline/De novo (untested) - - - - - Marc Ferre
+/. 2 14 c.1722G>C r.(?) p.(Trp574Cys) ACMG pathogenic (recessive) g.41921313G>C g.41525309G>C - - ACO2_000124 - PubMed: Helbig 2016 - - SUMMARY record, Germline - - - - - Marc Ferre, Johan den Dunnen
+/. 2 14 c.1724dup r.(?) p.(Asp575Glufs*21) - pathogenic (dominant) g.41921315dup g.41525311dup - - ACO2_000076 - Charif et al. (in progress) - - Germline/De novo (untested), SUMMARY record yes - - - - Khadidja Guehlouz, Marc Ferre
+/. 2 14 c.1753_1755del r.(?) p.(Leu585del) - pathogenic (dominant) g.41921344_41921346del g.41525340_41525342del - - ACO2_000088 - Charif et al. (in progress) - - SUMMARY record, Germline yes - - - - Marc Ferre, Khadidja Guehlouz
+/. 2 14 c.1753_1759del r.(?) p.(Leu585Argfs*73) - pathogenic (dominant) g.41921344_41921350del g.41525340_41525346del - - ACO2_000089 - Charif et al. (in progress) - - SUMMARY record, Germline/De novo (untested) yes - - - - Marc Ferre, Khadidja Guehlouz
+/. 2 15 c.1787A>C r.(?) p.(His596Pro) - pathogenic (dominant) g.41922291A>C g.41526287A>C - - ACO2_000077 - Charif et al. (in progress) - - Germline/De novo (untested), SUMMARY record yes - - - - Khadidja Guehlouz, Marc Ferre
+/. 2 15 c.1789A>T r.(?) p.(Ile597Phe) - pathogenic (dominant) g.41922293A>T g.41526289A>T - - ACO2_000078 - Charif et al. (in progress) - - Germline/De novo (untested), SUMMARY record yes - - - - Khadidja Guehlouz, Marc Ferre
+/. 3 15 c.1808G>C r.(?) p.(Trp603Ser) - pathogenic (dominant) g.41922312G>C g.41526308G>C - - ACO2_000090 - Charif et al. (in progress) - - SUMMARY record, Germline/De novo (untested) yes - - - - Marc Ferre, Khadidja Guehlouz
+?/. 2 15 c.1819C>T r.(?) p.(Arg607Cys) - likely pathogenic (recessive) g.41922323C>T g.41526319C>T - - ACO2_000026 - PubMed: Sadat 2016 - - SUMMARY record, Germline yes - - - - Marc Ferre, Thomas Foulonneau
+/. 2 15 c.1820G>A r.(?) p.(Arg607His) - pathogenic (dominant) g.41922324G>A g.41526320G>A - - ACO2_000079 - Charif et al. (in progress) - - Germline/De novo (untested), SUMMARY record yes - - - - Khadidja Guehlouz, Marc Ferre
+?/., +/. 3 15 c.1859G>A r.(?) p.(Gly620Asp) - likely pathogenic (recessive) g.41922363G>A g.41526359G>A - - ACO2_000021 - Papuc et al., submitted, PubMed: Abela 2017 - - SUMMARY record, Germline yes - - - - Marc Ferre, Anaïs Begemann, Thomas Foulonneau
+/. 2 15 c.1877dup r.(?) p.(Asn626Lysfs*20) - pathogenic (dominant) g.41922381dup g.41526377dup - - ACO2_000080 - Charif et al. (in progress) - - Germline/De novo (untested), SUMMARY record yes - - - - Khadidja Guehlouz, Marc Ferre
+?/., -?/. 3 15 c.1879G>A r.(?) p.(Gly627Ser) - pathogenic (recessive), likely benign g.41922383G>A g.41526379G>A ACO2(NM_001098.2):c.1879G>A (p.G627S) - ACO2_000091 VKGL data sharing initiative Nederland Charif et al. (in progress) - - Germline/De novo (untested), SUMMARY record, CLASSIFICATION record yes - - - - Khadidja Guehlouz, Marc Ferre, VKGL-NL_Rotterdam
+/. 3 15 c.1894G>A r.(?) p.(Val632Met) - likely pathogenic (recessive) g.41922398G>A g.41526394G>A - - ACO2_000122 - PubMed: 32449285 - - Germline, SUMMARY record yes - - - - Khadidja Guehlouz, Marc Ferre
+/., +?/. 3 15 c.1898G>A r.(?) p.(Arg633His) - pathogenic (dominant) g.41922402G>A g.41526398G>A - - ACO2_000092 - Charif et al. (in progress) - - SUMMARY record, Germline/De novo (untested), Germline yes, - - - - - Marc Ferre, Khadidja Guehlouz
-/. 2 15i c.1954-12C>T r.(=) p.(=) - benign g.41923280C>T g.41527276C>T ACO2(NM_001098.2):c.1954-12C>T, POLR3H(NM_001018050.4):c.*2007G>A - ACO2_000017 VKGL data sharing initiative Nederland - - - SUMMARY record, CLASSIFICATION record - - - - - Marc Ferre, VKGL-NL_AMC
+/. 2 16 c.1981G>A r.(?) p.(Gly661Arg) - pathogenic (recessive) g.41923319G>A g.41527315G>A - - ACO2_000093 - Charif et al. (in progress) - - Germline/De novo (untested), SUMMARY record yes - - - - Khadidja Guehlouz, Marc Ferre
+/. 2 16 c.1981G>C r.(?) p.(Gly661Arg) - likely pathogenic (recessive) g.41923319G>C g.41527315G>C - - ACO2_000027 - PubMed: Metodiev 2014 - - SUMMARY record, Germline yes - - - - Marc Ferre, Thomas Foulonneau
-?/. 3 16 c.1986C>T r.(?) p.(=), p.(Asp662=) - likely benign g.41923324C>T g.41527320C>T ACO2(NM_001098.2):c.1986C>T (p.D662=) - ACO2_000048 VKGL data sharing initiative Nederland - - - SUMMARY record, CLASSIFICATION record - - - - - Marc Ferre, VKGL-NL_AMC, VKGL-NL_Rotterdam
+/. 2 16 c.1987G>T r.(?) p.(Glu663*) - pathogenic (dominant) g.41923325G>T g.41527321G>T - - ACO2_000081 - Charif et al. (in progress) - - Germline/De novo (untested), SUMMARY record yes - - - - Khadidja Guehlouz, Marc Ferre
+/. 2 16 c.1995dup r.(?) p.(Gly666Argfs*46) - pathogenic (dominant) g.41923333dup g.41527329dup - - ACO2_000094 - Charif et al. (in progress) - - SUMMARY record, Germline/De novo (untested) yes - - - - Marc Ferre, Khadidja Guehlouz
+?/. 2 16 c.1997G>C r.(?) p.(Gly666Ala) - likely pathogenic (recessive) g.41923335G>C g.41527331G>C - - ACO2_000047 - PubMed: Fukada 2019 - - SUMMARY record, Germline yes - - - - Marc Ferre, Thomas Foulonneau
+/. 2 16 c.1999G>A r.(?) p.(Glu667Lys) - pathogenic (dominant) g.41923337G>A g.41527333G>A - - ACO2_000082 - Charif et al. (in progress) - - Germline/De novo (untested), SUMMARY record yes - - - - Khadidja Guehlouz, Marc Ferre
+/., +?/. 6 16 c.2006C>T r.(?) p.(Ser669Leu) - pathogenic (dominant) g.41923344C>T g.41527340C>T - - ACO2_000083 - Charif et al. (in progress) - - Germline/De novo (untested), SUMMARY record, Germline yes - - - - Khadidja Guehlouz, Marc Ferre
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