Unique variants in the ACO2 gene

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A database from the MITOchondrial DYNamics variation portal "Mitodyn.org".
 
Information The variants shown are described using the NM_001098.2 transcript reference sequence.

134 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 - - - - - Marc Ferre, VKGL-NL_Nijmegen
+/. 2 1i c.36+5del r.spl? p.? - pathogenic (recessive) g.41865191del g.41469187del - - ACO2_000084 - Journal: Charif 2021 - - Germline, SUMMARY record 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 - - - CLASSIFICATION record, SUMMARY record - - - - - Marc Ferre, VKGL-NL_AMC
-/. 2 2 c.84A>G r.(?) p.(=), p.(Gln28=) - 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 - - - - - Marc Ferre, VKGL-NL_AMC
+/. 2 2 c.166C>T r.(?) p.(Arg56Cys) - pathogenic (dominant) g.41895859C>T g.41499855C>T - - ACO2_000085 - Journal: Charif 2021 - - Germline/De novo (untested), SUMMARY record yes - - - - Marc Ferre, Khadidja Guehlouz
+/. 2 2 c.172C>T r.(?) p.(Arg58*) - pathogenic (dominant) g.41895865C>T g.41499861C>T - - ACO2_000050 - Journal: Charif 2021 - - Germline/De novo (untested), SUMMARY record - - - - - 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 - - - - - Marc Ferre, VKGL-NL_Groningen
-/. 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 - - - CLASSIFICATION record, SUMMARY record - - - - - Marc Ferre, VKGL-NL_Groningen, VKGL-NL_Nijmegen
+/. 5 3 c.196_197del r.(?) p.(Ser66Glyfs*10) - pathogenic (dominant) g.41903817_41903818del g.41507813_41507814del - - ACO2_000057 - Journal: Charif 2021 - - Germline, SUMMARY record no, yes - - - - Marc Ferre, Khadidja Guehlouz
+/., +?/., -/+?, -/?, ?/., ?/? 21 3 c.220C>G r.(?) p.(Leu74Val) - benign, likely benign, likely pathogenic (recessive), VUS g.41903841C>G g.41507837C>G ACO2(NM_001098.2):c.220C>G (p.L74V) - ACO2_000005 Conflicting interpretations of pathogenicity; 6 heterozygous, no homozygous; Clinindb (India), 1 more item Journal: Charif 2021, PubMed: Kelman 2018, PubMed: Metodiev 2014, 1 more item - rs141772938 CLASSIFICATION record, De novo, Germline, Germline/De novo (untested), SUMMARY record -, yes 6/2793 individuals - - - Marc Ferre, VKGL-NL_Groningen, VKGL-NL_AMC, Thomas Foulonneau, Khadidja Guehlouz, 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 - - - CLASSIFICATION record, SUMMARY record - - - - - Marc Ferre, VKGL-NL_AMC
+?/. 1 - c.245T>C r.(?) p.(Ile82Thr) - likely pathogenic g.41903866T>C g.41507862T>C - - ACO2_000130 - PubMed: Stone 2017 - - Germline - - - - - -
+/. 2 3 c.275G>A r.(?) p.(Arg92Gln) - pathogenic (dominant) g.41903896G>A g.41507892G>A - - ACO2_000103 - Journal: Charif 2021 - - Germline/De novo (untested), SUMMARY record 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 - - - CLASSIFICATION record, SUMMARY 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 - - - - - Marc Ferre, VKGL-NL_AMC
+/. 2 3 c.323T>C r.(?) p.(Leu108Pro) - pathogenic (dominant) g.41903944T>C g.41507940T>C - - ACO2_000051 - Journal: Charif 2021 - - Germline/De novo (untested), SUMMARY record - - - - - 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: Abela 2017, PubMed: Sadat 2016, PubMed: Spiegel 2012 - - Germline, SUMMARY record 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 - - - CLASSIFICATION record, SUMMARY record - - - - - Marc Ferre, VKGL-NL_AMC
+/., -/+? 4 4 c.441C>G r.(?) p.(Asn147Lys) - likely pathogenic (dominant), pathogenic (dominant) g.41907888C>G g.41511884C>G - - ACO2_000052 Non affected Journal: Charif 2021 - - Germline, Germline/De novo (untested), SUMMARY record -, yes - - - - Marc Ferre, Khadidja Guehlouz
+/. 2 4 c.487G>A r.(?) p.(Val163Met) - likely pathogenic (recessive) g.41907934G>A g.41511930G>A - - ACO2_000104 - Journal: Charif 2021 - - Germline, SUMMARY record 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 - - - - Marc Ferre, Khadidja Guehlouz
+/. 2 4 c.514A>C r.(?) p.(Ile172Leu) - pathogenic (dominant) g.41907961A>C g.41511957A>C - - ACO2_000053 - Journal: Charif 2021 - - Germline/De novo (untested), SUMMARY record 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 - Journal: Charif 2021 - - De novo, SUMMARY record 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 - - - - - Marc Ferre, VKGL-NL_Rotterdam
+/. 2 4i c.526-2A>G r.spl? p.? - pathogenic (dominant) g.41911379A>G g.41515375A>G - - ACO2_000054 - Journal: Charif 2021 - - Germline, SUMMARY record no - - - - Marc Ferre, Khadidja Guehlouz
-/. 2 5 c.573T>C r.(?) p.(=), p.(Thr191=) - 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 - - - - - Marc Ferre, VKGL-NL_AMC
+?/. 2 4 c.575A>G r.(?) p.(Asp192Gly) - pathogenic (dominant) g.41911430A>G g.41515426A>G - - ACO2_000055 - Journal: Charif 2021 - - Germline/De novo (untested), SUMMARY record - - - - - Marc Ferre, Khadidja Guehlouz
+/. 2 4 c.610A>C r.(?) p.(Ile204Leu) - likely pathogenic (recessive) g.41911465A>C g.41515461A>C - - ACO2_000106 - Journal: Charif 2021 - - Germline/De novo (untested), SUMMARY record yes - - - - Marc Ferre, Khadidja Guehlouz
-/. 2 4 c.670C>T r.(?) p.(=), p.(Leu224=) - benign g.41911525C>T g.41515521C>T - - ACO2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, SUMMARY record - - - - - Marc Ferre, VKGL-NL_Nijmegen
+/. 2 4 c.680C>A r.(?) p.(Pro227His) - pathogenic (dominant) g.41911535C>A g.41515531C>A - - ACO2_000107 - Journal: Charif 2021 - - Germline/De novo (untested), SUMMARY record 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 Germline, SUMMARY record - 18/2645 individuals - - - Marc Ferre, Mohammed Faruq
-?/. 1 - c.705G>A r.(?) p.(Thr235=) - likely benign g.41911791G>A - ACO2(NM_001098.2):c.705G>A (p.T235=) - ACO2_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 3 6 c.718G>A r.(?) p.(Gly240Ser) - pathogenic (dominant) g.41911804G>A g.41515800G>A - - ACO2_000056 - Journal: Charif 2021 - - Germline, Germline/De novo (untested), SUMMARY record no, yes - - - - Marc Ferre, Khadidja Guehlouz
+/+, +/., ?/., ?/? 8 6 c.719G>C r.(?) p.(Gly240Ala) - likely pathogenic (recessive), pathogenic (recessive), VUS g.41911805G>C g.41515801G>C ACO2(NM_001098.2):c.719G>C (p.G240A) - ACO2_000002 VKGL data sharing initiative Nederland Journal: Charif 2021 - - CLASSIFICATION record, Germline, Germline/De novo (untested), SUMMARY record ?, yes - - - - Marc Ferre, Claire Guissart, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen, Khadidja Guehlouz
+/. 2 6 c.740T>C r.(?) p.(Val247Ala) - pathogenic (dominant) g.41911826T>C g.41515822T>C - - ACO2_000058 - Journal: Charif 2021 - - Germline/De novo (untested), SUMMARY record yes - - - - Marc Ferre, Khadidja Guehlouz
+/., -?/+? 4 6 c.741del r.(?) p.(Ile248Serfs*2) - likely pathogenic (dominant), pathogenic (dominant) g.41911827del g.41515823del - - ACO2_000059 - Journal: Charif 2021 - - Germline, Germline/De novo (untested), SUMMARY record yes - - - - Marc Ferre, Khadidja Guehlouz
+/. 3 6 c.776G>A r.(?) p.(Gly259Asp) - likely pathogenic, likely pathogenic (recessive) g.41911862G>A g.41515858G>A - - ACO2_000023 - PubMed: Metodiev 2014 - - Germline, SUMMARY record yes - - - - Marc Ferre, Thomas Foulonneau
+/. 2 6 c.812G>A r.(?) p.(Gly271Asp) - pathogenic (recessive) g.41911898G>A g.41515894G>A - - ACO2_000108 - Journal: Charif 2021 - - Germline/De novo (untested), SUMMARY record 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 - - - CLASSIFICATION record, SUMMARY record - - - - - Marc Ferre, VKGL-NL_AMC
+/. 2 7 c.935G>A r.(?) p.(Arg312Gln) - pathogenic (dominant) g.41913630G>A g.41517626G>A - - ACO2_000060 - Journal: Charif 2021 - - Germline, SUMMARY record 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 - - - CLASSIFICATION record, SUMMARY record - - - - - Marc Ferre, VKGL-NL_Rotterdam
-?/. 2 8 c.988C>T r.(?) p.(Pro330Ser) - likely benign g.41914532C>T g.41518528C>T ACO2(NM_001098.2):c.988C>T (p.(Pro330Ser)) - ACO2_000011 VKGL data sharing initiative Nederland; Variant no longer found in the VKGL dataset for this center. - - - CLASSIFICATION record, SUMMARY record - - - - - Marc Ferre, VKGL-NL
+?/. 1 - c.1029_1032del r.(?) p.(Glu344*) - likely pathogenic g.41914573_41914576del g.41518569_41518572del 1027_1030delAGTG - ACO2_000131 - PubMed: Stone 2017 - - Germline - - - - - -
+/. 2 8i c.1032+1G>C r.spl? p.? - pathogenic (dominant) g.41914577G>C g.41518573G>C - - ACO2_000061 - Journal: Charif 2021 - - Germline/De novo (untested), SUMMARY record yes - - - - Marc Ferre, Khadidja Guehlouz
+/. 2 8i c.1032+2T>C r.spl? p.? - pathogenic (dominant) g.41914578T>C g.41518574T>C - - ACO2_000062 - Journal: Charif 2021 - - Germline/De novo (untested), SUMMARY record yes - - - - Marc Ferre, Khadidja Guehlouz
+/. 3 8i c.1032+5G>A r.spl? p.? - pathogenic (dominant) g.41914581G>A g.41518577G>A - - ACO2_000063 - Journal: Charif 2021 - - Germline, Germline/De novo (untested), SUMMARY record 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 - - - CLASSIFICATION record, SUMMARY record - - - - - Marc Ferre, VKGL-NL_Groningen, VKGL-NL_Nijmegen
+/., +?/. 3 9 c.1064C>G r.(?) p.(Pro355Arg) - pathogenic (recessive) g.41916206C>G g.41520202C>G - - ACO2_000086 - Journal: Charif 2021 - - Germline/De novo (untested), SUMMARY record yes - - - - Marc Ferre, Khadidja Guehlouz
+?/. 2 9 c.1091T>C r.(?) p.(Val364Ala) - likely pathogenic (recessive) g.41916233T>C g.41520229T>C - - ACO2_000024 - PubMed: Srivastava 2017 - - Germline, SUMMARY record yes - - - - Marc Ferre, Thomas Foulonneau
-/., -?/. 3 9 c.1113A>G r.(?) p.(=), p.(Glu371=) - 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 - - - - - Marc Ferre, VKGL-NL_Rotterdam, VKGL-NL_AMC
+/., +?/. 3 9 c.1132C>T r.(?) p.(Arg378*) - pathogenic (dominant) g.41916274C>T g.41520270C>T - - ACO2_000064 - Journal: Charif 2021 - - Germline/De novo (untested), SUMMARY record -, 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 - Journal: Charif 2021 - - Germline/De novo (untested), SUMMARY record - - - - - 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 - - Germline, SUMMARY record 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 Journal: Charif 2021 - - De novo, SUMMARY record 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 - - - CLASSIFICATION record, SUMMARY record - - - - - Marc Ferre, VKGL-NL_Leiden
+/. 2 10 c.1291G>A r.(?) p.(Gly431Ser) - pathogenic (dominant) g.41918986G>A g.41522982G>A - - ACO2_000067 - Journal: Charif 2021 - - Germline/De novo (untested), SUMMARY record 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 - - - CLASSIFICATION record, SUMMARY 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 - Journal: Charif 2021 - - Germline/De novo (untested), SUMMARY record yes - - - - Marc Ferre, Khadidja Guehlouz
+/. 2 11 c.1300C>T r.(?) p.(Gln434*) - pathogenic (dominant) g.41919212C>T g.41523208C>T - - ACO2_000068 - Journal: Charif 2021 - - Germline/De novo (untested), SUMMARY record yes - - - - Marc Ferre, Khadidja Guehlouz
+/. 2 11i c.1370+1G>A r.spl? p.? - pathogenic (dominant) g.41919283G>A g.41523279G>A - - ACO2_000069 - Journal: Charif 2021 - - De novo, SUMMARY record yes - - - - Marc Ferre, Khadidja Guehlouz
+/. 2 12 c.1387G>C r.(?) p.(Gly463Arg) - pathogenic (dominant) g.41919850G>C g.41523846G>C - - ACO2_000070 - Journal: Charif 2021 - - Germline/De novo (untested), SUMMARY record yes - - - - Marc Ferre, Khadidja Guehlouz
+/. 2 12 c.1390G>T r.(?) p.(Glu464*) - pathogenic (recessive) g.41919853G>T g.41523849G>T - - ACO2_000087 - Journal: Charif 2021 - - De novo, SUMMARY record yes - - - - Marc Ferre, Khadidja Guehlouz
+/. 2 12 c.1406T>A r.(?) p.(Val469Asp) - pathogenic (recessive) g.41919869T>A g.41523865T>A - - ACO2_000110 - Journal: Charif 2021 - - Germline/De novo (untested), SUMMARY record yes - - - - Marc Ferre, Khadidja Guehlouz
+/. 2 12 c.1411T>C r.(?) p.(Ser471Pro) - pathogenic (dominant) g.41919874T>C g.41523870T>C - - ACO2_000071 - Journal: Charif 2021 - - Germline/De novo (untested), SUMMARY record yes - - - - Marc Ferre, Khadidja Guehlouz
+/. 2 12 c.1420A>G r.(?) p.(Arg474Gly) - pathogenic (dominant) g.41919883A>G g.41523879A>G - - ACO2_000072 - Journal: Charif 2021 - - Germline/De novo (untested), SUMMARY record yes - - - - Marc Ferre, Khadidja Guehlouz
+/. 2 12 c.1425C>G r.(?) p.(Asn475Lys) - pathogenic (dominant) g.41919888C>G g.41523884C>G - - ACO2_000073 - Journal: Charif 2021 - - Germline, SUMMARY record yes - - - - Marc Ferre, Khadidja Guehlouz
+/. 2 12 c.1444G>A r.(?) p.(Ala482Thr) - pathogenic (dominant) g.41919907G>A g.41523903G>A - - ACO2_000111 - Journal: Charif 2021 - - Germline/De novo (untested), SUMMARY record yes - - - - Marc Ferre, Khadidja Guehlouz
+/. 2 12 c.1452_1459del r.(?) p.(Glu485Cysfs*44) - pathogenic (dominant) g.41919915_41919922del g.41523911_41523918del - - ACO2_000074 - Journal: Charif 2021 - - Germline, SUMMARY record yes - - - - Marc Ferre, Khadidja Guehlouz
+/. 2 12 c.1454A>G r.(?) p.(Glu485Gly) - pathogenic (dominant) g.41919917A>G g.41523913A>G - - ACO2_000075 - Journal: Charif 2021 - - Germline/De novo (untested), SUMMARY record yes - - - - Marc Ferre, Khadidja Guehlouz
+/. 2 13 c.1508G>A r.(?) p.(Gly503Glu) - pathogenic (recessive) g.41920875G>A g.41524871G>A - - ACO2_000112 - Journal: Charif 2021 - - De novo, SUMMARY record 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 - - Germline, SUMMARY record yes - - - - Marc Ferre, Thomas Foulonneau
+/. 2 13 c.1561A>T r.(?) p.(Lys521*) - pathogenic (dominant) g.41920928A>T g.41524924A>T - - ACO2_000113 - Journal: Charif 2021 - - Germline/De novo (untested), SUMMARY record yes - - - - Marc Ferre, Khadidja Guehlouz
-/. 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 - - - CLASSIFICATION record, SUMMARY record - - - - - Marc Ferre, VKGL-NL_AMC
-?/. 3 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(NM_001098.2):c.1605+3G>A (p.?) - ACO2_000016 VKGL data sharing initiative Nederland, 1 more item - - - CLASSIFICATION record, SUMMARY record - - - - - Marc Ferre, VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 2 14 c.1671C>T r.(?) p.(=), p.(Asp557=) - 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 - - - - - Marc Ferre, VKGL-NL_AMC
+/. 2 14 c.1690C>T r.(?) p.(Arg564Cys) - likely pathogenic (recessive) g.41921281C>T g.41525277C>T - - ACO2_000114 - Journal: Charif 2021 - - Germline/De novo (untested), SUMMARY record yes - - - - Marc Ferre, Khadidja Guehlouz
+/+ 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 - - Germline, SUMMARY record - - - - - Johan den Dunnen, Marc Ferre
+/. 2 14 c.1724dup r.(?) p.(Asp575Glufs*21) - pathogenic (dominant) g.41921315dup g.41525311dup - - ACO2_000076 - Journal: Charif 2021 - - Germline/De novo (untested), SUMMARY record yes - - - - Marc Ferre, Khadidja Guehlouz
+/. 2 14 c.1753_1755del r.(?) p.(Leu585del) - pathogenic (dominant) g.41921344_41921346del g.41525340_41525342del - - ACO2_000088 - Journal: Charif 2021 - - Germline, SUMMARY record yes - - - - Marc Ferre, Khadidja Guehlouz
+/. 2 14 c.1753_1759del r.(?) p.(Leu585Argfs*73) - pathogenic (dominant) g.41921344_41921350del g.41525340_41525346del - - ACO2_000089 - Journal: Charif 2021 - - Germline/De novo (untested), SUMMARY record yes - - - - Marc Ferre, Khadidja Guehlouz
?/? 1 14 c.1757_1759del r.(?) p.(Ile586del) - VUS g.41921348_41921350del - - - ACO2_000128 - - - - Germline/De novo (untested) - - - - - Marc Ferre
+/. 2 15 c.1787A>C r.(?) p.(His596Pro) - pathogenic (dominant) g.41922291A>C g.41526287A>C - - ACO2_000077 - Journal: Charif 2021 - - Germline/De novo (untested), SUMMARY record yes - - - - Marc Ferre, Khadidja Guehlouz
+/. 2 15 c.1789A>T r.(?) p.(Ile597Phe) - pathogenic (dominant) g.41922293A>T g.41526289A>T - - ACO2_000078 - Journal: Charif 2021 - - Germline/De novo (untested), SUMMARY record yes - - - - Marc Ferre, Khadidja Guehlouz
+/. 3 15 c.1808G>C r.(?) p.(Trp603Ser) - pathogenic (dominant) g.41922312G>C g.41526308G>C - - ACO2_000090 - Journal: Charif 2021 - - Germline/De novo (untested), SUMMARY record 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 - - Germline, SUMMARY record yes - - - - Marc Ferre, Thomas Foulonneau
+/. 2 15 c.1820G>A r.(?) p.(Arg607His) - pathogenic (dominant) g.41922324G>A g.41526320G>A - - ACO2_000079 - Journal: Charif 2021 - - Germline/De novo (untested), SUMMARY record yes - - - - Marc Ferre, Khadidja Guehlouz
+/., +?/. 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 - - Germline, SUMMARY record yes - - - - Marc Ferre, Anaïs Begemann, Thomas Foulonneau
+/. 2 15 c.1877dup r.(?) p.(Asn626Lysfs*20) - pathogenic (dominant) g.41922381dup g.41526377dup - - ACO2_000080 - Journal: Charif 2021 - - Germline/De novo (untested), SUMMARY record yes - - - - Marc Ferre, Khadidja Guehlouz
+?/., -?/. 3 15 c.1879G>A r.(?) p.(Gly627Ser) - likely benign, pathogenic (recessive) g.41922383G>A g.41526379G>A ACO2(NM_001098.2):c.1879G>A (p.G627S) - ACO2_000091 VKGL data sharing initiative Nederland Journal: Charif 2021 - - CLASSIFICATION record, Germline/De novo (untested), SUMMARY record yes - - - - Marc Ferre, VKGL-NL_Rotterdam, Khadidja Guehlouz
+/. 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 - - - - Marc Ferre, Khadidja Guehlouz
+/., +?/. 3 15 c.1898G>A r.(?) p.(Arg633His) - pathogenic (dominant) g.41922402G>A g.41526398G>A - - ACO2_000092 - Journal: Charif 2021 - - Germline, Germline/De novo (untested), SUMMARY record -, 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 - - - CLASSIFICATION record, SUMMARY record - - - - - Marc Ferre, VKGL-NL_AMC
+/. 2 16 c.1981G>A r.(?) p.(Gly661Arg) - pathogenic (recessive) g.41923319G>A g.41527315G>A - - ACO2_000093 - Journal: Charif 2021 - - Germline/De novo (untested), SUMMARY record yes - - - - Marc Ferre, Khadidja Guehlouz
+/. 2 16 c.1981G>C r.(?) p.(Gly661Arg) - likely pathogenic (recessive) g.41923319G>C g.41527315G>C - - ACO2_000027 - PubMed: Metodiev 2014 - - Germline, SUMMARY record 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 - - - CLASSIFICATION record, SUMMARY record - - - - - Marc Ferre, VKGL-NL_Rotterdam, VKGL-NL_AMC
+/. 2 16 c.1987G>T r.(?) p.(Glu663*) - pathogenic (dominant) g.41923325G>T g.41527321G>T - - ACO2_000081 - Journal: Charif 2021 - - Germline/De novo (untested), SUMMARY record yes - - - - Marc Ferre, Khadidja Guehlouz
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