All 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.

333 entries on 4 pages. Showing entries 1 - 100.
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Effect     

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.-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 - - - 0 - VKGL-NL_Rotterdam
?/. _1 c.-494T>A r.(?) p.(=) - VUS g.41864657T>A g.41468653T>A - - ACO2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. _1 c.-494T>A r.(?) p.(=) - VUS g.41864657T>A g.41468653T>A - - ACO2_000032 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 1i c.36+5del r.spl? p.? - pathogenic (recessive) g.41865191del g.41469187del - - ACO2_000084 - Journal: Charif 2021 - - Germline yes - - 0 - Khadidja Guehlouz
+/. 1i c.36+5del r.spl? p.? - pathogenic (recessive) g.41865191del g.41469187del - - ACO2_000084 - - - - SUMMARY record - - - 0 - Marc Ferre
-/. 2 c.72A>G r.(?) 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 - - - 0 - VKGL-NL_AMC
-/. 2 c.72A>G r.(?) p.(=) - benign g.41895765A>G g.41499761A>G - - ACO2_000003 - - - - SUMMARY record - - - 0 - Marc Ferre
-/. 2 c.84A>G r.(?) 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 - - - 0 - VKGL-NL_AMC
-/. 2 c.84A>G r.(?) p.(=) - benign g.41895777A>G g.41499773A>G - - ACO2_000033 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 2 c.166C>T r.(?) p.(Arg56Cys) - pathogenic (dominant) g.41895859C>T g.41499855C>T - - ACO2_000085 - Journal: Charif 2021 - - Germline/De novo (untested) yes - - 0 - Khadidja Guehlouz
+/. 2 c.166C>T r.(?) p.(Arg56Cys) - pathogenic (dominant) g.41895859C>T g.41499855C>T - - ACO2_000085 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 2 c.172C>T r.(?) p.(Arg58*) - pathogenic (dominant) g.41895865C>T g.41499861C>T - - ACO2_000050 - Journal: Charif 2021 - - Germline/De novo (untested) - - - 0 - Khadidja Guehlouz
+/. 2 c.172C>T r.(?) p.(Arg58*) - pathogenic (dominant) g.41895865C>T g.41499861C>T - - ACO2_000050 - - - - SUMMARY record - - - 0 - Marc Ferre
-?/. 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 - - - 0 - VKGL-NL_Groningen
-?/. 3 c.180C>G r.(?) p.(Asn60Lys) - likely benign g.41903801C>G g.41507797C>G - - ACO2_000034 - - - - SUMMARY record - - - 0 - Marc Ferre
-/. 3 c.192A>C r.(?) 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 - - - 0 - VKGL-NL_Groningen
-/. 3 c.192A>C r.(?) 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 - - - 0 - VKGL-NL_Nijmegen
-/. 3 c.192A>C r.(?) p.(=) - benign g.41903813A>C g.41507809A>C - - ACO2_000004 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 3 c.196_197del r.(?) p.(Ser66Glyfs*10) - pathogenic (dominant) g.41903817_41903818del g.41507813_41507814del - - ACO2_000057 - Journal: Charif 2021 - - Germline yes - - 0 - Khadidja Guehlouz
+/. 3 c.196_197del r.(?) p.(Ser66Glyfs*10) - pathogenic (dominant) g.41903817_41903818del g.41507813_41507814del - - ACO2_000057 - Journal: Charif 2021 - - Germline yes - - 0 - Khadidja Guehlouz
+/. 3 c.196_197del r.(?) p.(Ser66Glyfs*10) - pathogenic (dominant) g.41903817_41903818del g.41507813_41507814del - - ACO2_000057 - Journal: Charif 2021 - - Germline yes - - 0 - Khadidja Guehlouz
+/. 3 c.196_197del r.(?) p.(Ser66Glyfs*10) - pathogenic (dominant) g.41903817_41903818del g.41507813_41507814del - - ACO2_000057 - Journal: Charif 2021 - - Germline no - - 0 - Khadidja Guehlouz
+/. 3 c.196_197del r.(?) p.(Ser66Glyfs*10) - pathogenic (dominant) g.41903817_41903818del g.41507813_41507814del - - ACO2_000057 - - - - SUMMARY record - - - 0 - Marc Ferre
-/? 3 c.220C>G r.(?) p.(Leu74Val) - benign g.41903841C>G g.41507837C>G ACO2(NM_001098.2):c.220C>G (p.L74V) - ACO2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. 3 c.220C>G r.(?) p.(Leu74Val) - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - PubMed: Metodiev 2014 - - Germline yes - - 0 - Thomas Foulonneau
+/. 3 c.220C>G r.(?) p.(Leu74Val) - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - PubMed: Kelman 2018 - - Germline yes - - 0 - Thomas Foulonneau
+/. 3 c.220C>G r.(?) p.(Leu74Val) - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - PubMed: Kelman 2018 - - Germline yes - - 0 - Thomas Foulonneau
?/. 3 c.220C>G r.(?) p.(Leu74Val) - VUS g.41903841C>G g.41507837C>G ACO2(NM_001098.2):c.220C>G (p.L74V) - ACO2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+?/. 3 c.220C>G r.(?) p.(Leu74Val) - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - Journal: Charif 2021 - - Germline/De novo (untested) yes - - 0 - Khadidja Guehlouz
+?/. 3 c.220C>G r.(?) p.(Leu74Val) - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - Journal: Charif 2021 - - Germline yes - - 0 - Khadidja Guehlouz
+?/. 3 c.220C>G r.(?) p.(Leu74Val) - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - Journal: Charif 2021 - - De novo yes - - 0 - Khadidja Guehlouz
+?/. 3 c.220C>G r.(?) p.(Leu74Val) - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - Journal: Charif 2021 - - Germline yes - - 0 - Khadidja Guehlouz
+?/. 3 c.220C>G r.(?) p.(Leu74Val) - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - Journal: Charif 2021 - - Germline yes - - 0 - Khadidja Guehlouz
+?/. 3 c.220C>G r.(?) p.(Leu74Val) - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - Journal: Charif 2021 - - Germline/De novo (untested) yes - - 0 - Khadidja Guehlouz
+?/. 3 c.220C>G r.(?) p.(Leu74Val) - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - Journal: Charif 2021 - - Germline/De novo (untested) yes - - 0 - Khadidja Guehlouz
+?/. 3 c.220C>G r.(?) p.(Leu74Val) - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - Journal: Charif 2021 - - Germline yes - - 0 - Khadidja Guehlouz
+?/. 3 c.220C>G r.(?) p.(Leu74Val) - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - Journal: Charif 2021 - - Germline yes - - 0 - Khadidja Guehlouz
-/+? 3 c.220C>G r.(?) p.(Leu74Val) - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - Journal: Charif 2021 - - Germline/De novo (untested) - - - 0 - Khadidja Guehlouz
+?/. 3 c.220C>G r.(?) p.(Leu74Val) - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - Journal: Charif 2021 - - Germline/De novo (untested) - - - 0 - Khadidja Guehlouz
+?/. 3 c.220C>G r.(?) p.(Leu74Val) - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - Journal: Charif 2021 - - Germline yes - - 0 - Khadidja Guehlouz
-/+? 3 c.220C>G r.(?) p.(Leu74Val) - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - Journal: Charif 2021 - - Germline/De novo (untested) yes - - 0 - Khadidja Guehlouz
?/. 3 c.220C>G r.(?) p.(Leu74Val) - VUS g.41903841C>G g.41507837C>G - - ACO2_000005 Conflicting interpretations of pathogenicity; 6 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs141772938 Germline - 6/2793 individuals - 0 - Mohammed Faruq
-/? 3 c.220C>G r.(?) p.(Leu74Val) - likely benign g.41903841C>G g.41507837C>G - - ACO2_000005 - - - - SUMMARY record - - - 0 - Marc Ferre
?/? 3 c.220C>G r.(?) p.(Leu74Val) - VUS g.41903841C>G - - - ACO2_000005 - - - - Germline/De novo (untested) - - - 0 - Marc Ferre
-/. 3 c.231C>T r.(?) 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 - - - 0 - VKGL-NL_AMC
-/. 3 c.231C>T r.(?) p.(=) - benign g.41903852C>T g.41507848C>T - - ACO2_000006 - - - - SUMMARY record - - - 0 - Marc Ferre
+?/. - c.245T>C r.(?) p.(Ile82Thr) - likely pathogenic g.41903866T>C g.41507862T>C - - ACO2_000130 - PubMed: Stone 2017 - - Germline - - - 0 - -
+/. 3 c.275G>A r.(?) p.(Arg92Gln) - pathogenic (dominant) g.41903896G>A g.41507892G>A - - ACO2_000103 - Journal: Charif 2021 - - Germline/De novo (untested) yes - - 0 - Khadidja Guehlouz
+/. 3 c.275G>A r.(?) p.(Arg92Gln) - pathogenic (dominant) g.41903896G>A g.41507892G>A - - ACO2_000103 - - - - SUMMARY record - - - 0 - Marc Ferre
-/. 3 c.282C>T r.(?) p.(Asp94=) - 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 - - - 0 - VKGL-NL_AMC
-?/. 3 c.282C>T r.(?) p.(Asp94=) - 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 - - - 0 - VKGL-NL_Rotterdam
-/. 3 c.282C>T r.(?) p.(=) - benign g.41903903C>T g.41507899C>T - - ACO2_000007 - - - - SUMMARY record - - - 0 - Marc Ferre
?/. 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 - - - 0 - VKGL-NL_AMC
?/. 3 c.316G>A r.(?) p.(Ala106Thr) - VUS g.41903937G>A g.41507933G>A - - ACO2_000035 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 3 c.323T>C r.(?) p.(Leu108Pro) - pathogenic (dominant) g.41903944T>C g.41507940T>C - - ACO2_000051 - Journal: Charif 2021 - - Germline/De novo (untested) - - - 0 - Khadidja Guehlouz
+/. 3 c.323T>C r.(?) p.(Leu108Pro) - pathogenic (dominant) g.41903944T>C g.41507940T>C - - ACO2_000051 - - - - SUMMARY record - - - 0 - Marc Ferre
+?/. 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 - - Germline yes - - 0 - Thomas Foulonneau
+?/. 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 - - Germline yes - - 0 - Thomas Foulonneau
+?/. 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 - - Germline yes - - 0 - Thomas Foulonneau
+?/. 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 - - Germline yes - - 0 - Thomas Foulonneau
+?/. 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 - - Germline yes - - 0 - Thomas Foulonneau
+?/. 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 - - Germline yes - - 0 - Thomas Foulonneau
+?/. 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 - - Germline yes - - 0 - Thomas Foulonneau
+?/. 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 - - Germline yes - - 0 - Thomas Foulonneau
+/. 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 - - Germline yes - - 0 - Thomas Foulonneau
+/. 3 c.336C>G r.(?) p.(Ser112Arg) - pathogenic (recessive) g.41903957C>G g.41507953C>G - - ACO2_000001 Not in 256 control chromosomes PubMed: Sadat 2016 - - Germline yes - - 0 - Thomas Foulonneau
+?/. 3 c.336C>G r.(?) p.(Ser112Arg) - pathogenic (recessive) g.41903957C>G g.41507953C>G - - ACO2_000001 - - - - SUMMARY record - - - 0 - Marc Ferre
?/. - 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
-/. 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 - - - 0 - VKGL-NL_AMC
-/. 3i c.432+19T>C r.(=) p.(=) - benign g.41904072T>C g.41508068T>C - - ACO2_000008 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 4 c.441C>G r.(?) p.(Asn147Lys) - pathogenic (dominant) g.41907888C>G g.41511884C>G - - ACO2_000052 - Journal: Charif 2021 - - Germline - - - 0 - Khadidja Guehlouz
+/. 4 c.441C>G r.(?) p.(Asn147Lys) - pathogenic (dominant) g.41907888C>G g.41511884C>G - - ACO2_000052 - Journal: Charif 2021 - - Germline yes - - 0 - Khadidja Guehlouz
-/+? 4 c.441C>G r.(?) p.(Asn147Lys) - likely pathogenic (dominant) g.41907888C>G g.41511884C>G - - ACO2_000052 Non affected Journal: Charif 2021 - - Germline/De novo (untested) - - - 0 - Khadidja Guehlouz
+/. 4 c.441C>G r.(?) p.(Asn147Lys) - pathogenic (dominant) g.41907888C>G g.41511884C>G - - ACO2_000052 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 4 c.487G>A r.(?) p.(Val163Met) - likely pathogenic (recessive) g.41907934G>A g.41511930G>A - - ACO2_000104 - Journal: Charif 2021 - - Germline yes - - 0 - Khadidja Guehlouz
+/. 4 c.487G>A r.(?) p.(Val163Met) - likely pathogenic (recessive) g.41907934G>A g.41511930G>A - - ACO2_000104 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 4 c.487G>T r.(?) p.(Val163Leu) - likely pathogenic (recessive) g.41907934G>T g.41511930G>T - - ACO2_000121 - PubMed: 32449285 - - Germline yes - - 0 - Khadidja Guehlouz
+/. 4 c.487G>T r.(?) p.(Val163Leu) - likely pathogenic (recessive) g.41907934G>T g.41511930G>T - - ACO2_000121 - PubMed: 32449285 - - Germline yes - - 0 - Khadidja Guehlouz
+/. 4 c.487G>T r.(?) p.(Val163Leu) - likely pathogenic (recessive) g.41907934G>T g.41511930G>T - - ACO2_000121 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 4 c.514A>C r.(?) p.(Ile172Leu) - pathogenic (dominant) g.41907961A>C g.41511957A>C - - ACO2_000053 - Journal: Charif 2021 - - Germline/De novo (untested) yes - - 0 - Khadidja Guehlouz
+/. 4 c.514A>C r.(?) p.(Ile172Leu) - pathogenic (dominant) g.41907961A>C g.41511957A>C - - ACO2_000053 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 4i c.525+1G>A r.spl? p.? - likely pathogenic (recessive) g.41907973G>A g.41511969G>A - - ACO2_000105 - Journal: Charif 2021 - - De novo yes - - 0 - Khadidja Guehlouz
+/. 4i c.525+1G>A r.spl? p.? - likely pathogenic (recessive) g.41907973G>A g.41511969G>A - - ACO2_000105 - - - - SUMMARY record - - - 0 - Marc Ferre
-?/. 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 - - - 0 - VKGL-NL_Rotterdam
-?/. 4i c.525+6G>A r.(=) p.(=) - likely benign g.41907978G>A g.41511974G>A - - ACO2_000036 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 4i c.526-2A>G r.spl? p.? - pathogenic (dominant) g.41911379A>G g.41515375A>G - - ACO2_000054 - Journal: Charif 2021 - - Germline no - - 0 - Khadidja Guehlouz
+/. 4i c.526-2A>G r.spl? p.? - pathogenic (dominant) g.41911379A>G g.41515375A>G - - ACO2_000054 - - - - SUMMARY record - - - 0 - Marc Ferre
-/. 5 c.573T>C r.(?) 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 - - - 0 - VKGL-NL_AMC
-/. 5 c.573T>C r.(?) p.(=) - benign g.41911428T>C g.41515424T>C - - ACO2_000037 - - - - SUMMARY record - - - 0 - Marc Ferre
+?/. 4 c.575A>G r.(?) p.(Asp192Gly) - pathogenic (dominant) g.41911430A>G g.41515426A>G - - ACO2_000055 - Journal: Charif 2021 - - Germline/De novo (untested) - - - 0 - Khadidja Guehlouz
+?/. 4 c.575A>G r.(?) p.(Asp192Gly) - pathogenic (dominant) g.41911430A>G g.41515426A>G - - ACO2_000055 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 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) yes - - 0 - Khadidja Guehlouz
+/. 4 c.610A>C r.(?) p.(Ile204Leu) - likely pathogenic (recessive) g.41911465A>C g.41515461A>C - - ACO2_000106 - - - - SUMMARY record - - - 0 - Marc Ferre
-/. 4 c.670C>T r.(?) p.(Leu224=) - benign g.41911525C>T g.41515521C>T - - ACO2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. 4 c.670C>T r.(?) p.(=) - benign g.41911525C>T g.41515521C>T - - ACO2_000038 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 4 c.680C>A r.(?) p.(Pro227His) - pathogenic (dominant) g.41911535C>A g.41515531C>A - - ACO2_000107 - Journal: Charif 2021 - - Germline/De novo (untested) yes - - 0 - Khadidja Guehlouz
+/. 4 c.680C>A r.(?) p.(Pro227His) - pathogenic (dominant) g.41911535C>A g.41515531C>A - - ACO2_000107 - - - - SUMMARY record - - - 0 - Marc Ferre
+/. 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 - 18/2645 individuals - 0 - Mohammed Faruq
+/. 5i c.684+1G>T r.spl? p.? - likely pathogenic (dominant) g.41911540G>T g.41515536G>T - - ACO2_000120 - - - rs747330606 SUMMARY record - - - 0 - Marc Ferre
-?/. - 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
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