Full data view for gene ACO2

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.

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. _1 c.-504T>C r.(?) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
?/. _1 c.-494T>A r.(?) p.(=) Unknown - VUS g.41864657T>A g.41468653T>A - - ACO2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. _1 c.-494T>A r.(?) p.(=) Unknown - VUS g.41864657T>A g.41468653T>A - - ACO2_000032 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1i c.36+5del r.spl? p.? Parent #1 - pathogenic (recessive) g.41865191del g.41469187del - - ACO2_000084 - Charif et al. (in progress) - - Germline yes - - 0 - DNA SEQ-NG blood - neuropathy, optic - Charif et al. (in progress) 2 generations, 3 carriers (Both non affected parents are heterozygous for each variant),1 affected M ? France - - 0 - - 1 Khadidja Guehlouz
+/. 1i c.36+5del r.spl? p.? Unknown - pathogenic (recessive) g.41865191del g.41469187del - - ACO2_000084 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 2 c.72A>G r.(?) p.(Ser24=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/. 2 c.72A>G r.(?) p.(=) Unknown - benign g.41895765A>G g.41499761A>G - - ACO2_000003 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 2 c.84A>G r.(?) p.(Gln28=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/. 2 c.84A>G r.(?) p.(=) Unknown - benign g.41895777A>G g.41499773A>G - - ACO2_000033 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.166C>T r.(?) p.(Arg56Cys) Both (homozygous) - pathogenic (dominant) g.41895859C>T g.41499855C>T - - ACO2_000085 - Charif et al. (in progress) - - Germline/De novo (untested) yes - - 0 - DNA SEQ-NG blood - neuropathy, optic - Charif et al. (in progress) 1 generation, 3 carriers, 1 affected M ? France - - 0 - - 1 Khadidja Guehlouz
+/. 2 c.166C>T r.(?) p.(Arg56Cys) Unknown - pathogenic (dominant) g.41895859C>T g.41499855C>T - - ACO2_000085 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.172C>T r.(?) p.(Arg58*) Unknown - pathogenic (dominant) g.41895865C>T g.41499861C>T - - ACO2_000050 - Charif et al. (in progress) - - Germline/De novo (untested) - - - 0 - DNA SEQ-NG blood - neuropathy, optic - Charif et al. (in progress) - F - France - - 0 - - 1 Khadidja Guehlouz
+/. 2 c.172C>T r.(?) p.(Arg58*) Unknown - pathogenic (dominant) g.41895865C>T g.41499861C>T - - ACO2_000050 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. 3 c.180C>G r.(?) p.(Asn60Lys) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. 3 c.180C>G r.(?) p.(Asn60Lys) Unknown - likely benign g.41903801C>G g.41507797C>G - - ACO2_000034 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 3 c.192A>C r.(?) p.(Thr64=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/. 3 c.192A>C r.(?) p.(Thr64=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/. 3 c.192A>C r.(?) p.(=) Unknown - benign g.41903813A>C g.41507809A>C - - ACO2_000004 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.196_197del r.(?) p.(Ser66Glyfs*10) Paternal (confirmed) - pathogenic (dominant) g.41903817_41903818del g.41507813_41507814del - - ACO2_000057 - Charif et al. (in progress) - - Germline yes - - 0 - DNA SEQ-NG blood - neuropathy, optic - Charif et al. (in progress) 3 generation, 3 carriers, 2 affected M ? France - - 0 - - 3 Khadidja Guehlouz
+/. 3 c.196_197del r.(?) p.(Ser66Glyfs*10) Paternal (confirmed) - pathogenic (dominant) g.41903817_41903818del g.41507813_41507814del - - ACO2_000057 - Charif et al. (in progress) - - Germline yes - - 0 - DNA SEQ-NG - - neuropathy, optic - Charif et al. (in progress) 2 generations, 3 carriers, 2 affected (paternal) M ? France - - 0 - - 3 Khadidja Guehlouz
+/. 3 c.196_197del r.(?) p.(Ser66Glyfs*10) Unknown - pathogenic (dominant) g.41903817_41903818del g.41507813_41507814del - - ACO2_000057 - Charif et al. (in progress) - - Germline yes - - 0 - DNA SEQ-NG blood - neuropathy, optic - Charif et al. (in progress) 2 generations, 3 carriers, 2 affected M ? France - - 0 - - 1 Khadidja Guehlouz
+/. 3 c.196_197del r.(?) p.(Ser66Glyfs*10) Paternal (confirmed) - pathogenic (dominant) g.41903817_41903818del g.41507813_41507814del - - ACO2_000057 - Charif et al. (in progress) - - Germline no - - 0 - DNA SEQ-NG blood - neuropathy, optic - Charif et al. (in progress) 2 generations, 3 carriers, 2 affected M ? France - - 0 - - 1 Khadidja Guehlouz
+/. 3 c.196_197del r.(?) p.(Ser66Glyfs*10) Unknown - pathogenic (dominant) g.41903817_41903818del g.41507813_41507814del - - ACO2_000057 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
-/? 3 c.220C>G r.(?) p.(Leu74Val) Unknown - 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 - - - - - - - - - - - - - - - - - - -
+/. 3 c.220C>G r.(?) p.(Leu74Val) Parent #1 - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - PubMed: Metodiev 2014 - - Germline yes - - 0 - DNA SEQ - - neuropathy, optic, blindness Patients 1 and 2 PubMed: Metodiev 2014 2 affected M ? France - - 0 - - 2 Thomas Foulonneau
+/. 3 c.220C>G r.(?) p.(Leu74Val) Maternal (confirmed) - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - PubMed: Kelman 2018 - - Germline yes - - 0 - DNA SEQ-NG-I - - neuropathy, optic, OPA, blindness Sibling 2 PubMed: Kelman 2018 3-generation family, 1 carrier, 2 affected M no - - - 0 - - 1 Thomas Foulonneau
+/. 3 c.220C>G r.(?) p.(Leu74Val) Maternal (confirmed) - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - PubMed: Kelman 2018 - - Germline yes - - 0 - DNA SEQ-NG-I - - neuropathy, optic, OPA, blindness Sibling 1 PubMed: Kelman 2018 3-generation family, 1 carrier, 2 affected M no - - - 0 - - 1 Thomas Foulonneau
?/. 3 c.220C>G r.(?) p.(Leu74Val) Unknown - 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 - - - - - - - - - - - - - - - - - - -
+?/. 3 c.220C>G r.(?) p.(Leu74Val) Parent #1 - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - Charif et al. (in progress) - - Germline/De novo (untested) yes - - 0 - DNA SEQ-NG blood - neuropathy, optic - Charif et al. (in progress) - M ? England - - 0 - - 1 Khadidja Guehlouz
+?/. 3 c.220C>G r.(?) p.(Leu74Val) Parent #1 - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - Charif et al. (in progress) - - Germline yes - - 0 - DNA SEQ-NG blood - neuropathy, optic - Charif et al. (in progress) 2 generations, 3 carriers (both non affected parents are heterozygous for each variant), 1 affected F ? France - - 0 - - 1 Khadidja Guehlouz
+?/. 3 c.220C>G r.(?) p.(Leu74Val) Parent #1 - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - Charif et al. (in progress) - - De novo yes - - 0 - DNA SEQ-NG blood - neuropathy, optic - Charif et al. (in progress) 4 generations,1 carrier, 1 affected M no France - - 0 - - 1 Khadidja Guehlouz
+?/. 3 c.220C>G r.(?) p.(Leu74Val) Maternal (confirmed) - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - Charif et al. (in progress) - - Germline yes - - 0 - DNA SEQ-NG blood - neuropathy, optic - Charif et al. (in progress) 2 generations, 5 carriers, 4 affected M ? France - - 0 - - 5 Khadidja Guehlouz
+?/. 3 c.220C>G r.(?) p.(Leu74Val) Maternal (confirmed) - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - Charif et al. (in progress) - - Germline yes - - 0 - DNA SEQ-NG blood - neuropathy, optic - Charif et al. (in progress) 2 generations, 2 carriers, 1 affected M ? France - - 0 - - 2 Khadidja Guehlouz
+?/. 3 c.220C>G r.(?) p.(Leu74Val) Parent #1 - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - Charif et al. (in progress) - - Germline/De novo (untested) yes - - 0 - DNA SEQ-NG blood - neuropathy, optic - Charif et al. (in progress) Non affected mother are heterozygous for one variant F ? Italy - - 0 - - 1 Khadidja Guehlouz
+?/. 3 c.220C>G r.(?) p.(Leu74Val) Parent #1 - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - Charif et al. (in progress) - - Germline/De novo (untested) yes - - 0 - DNA SEQ-NG blood - neuropathy, optic - Charif et al. (in progress) - F ? France - - 0 - - 1 Khadidja Guehlouz
+?/. 3 c.220C>G r.(?) p.(Leu74Val) Maternal (confirmed) - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - Charif et al. (in progress) - - Germline yes - - 0 - DNA SEQ-NG blood - neuropathy, optic - Charif et al. (in progress) 2 generations, 5 carriers, 4 affected M ? France - - 0 - - 1 Khadidja Guehlouz
+?/. 3 c.220C>G r.(?) p.(Leu74Val) Maternal (confirmed) - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - Charif et al. (in progress) - - Germline yes - - 0 - DNA SEQ-NG blood - neuropathy, optic - Charif et al. (in progress) 2 generations, 5 carriers, 4 affected M ? France - - 0 - - 1 Khadidja Guehlouz
-/+? 3 c.220C>G r.(?) p.(Leu74Val) Parent #1 - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - Charif et al. (in progress) - - Germline/De novo (untested) - - - 0 - DNA SEQ-NG blood - neuropathy, optic - Charif et al. (in progress) 2 generations, 5 carriers, 4 affected F ? France - - 0 - - 1 Khadidja Guehlouz
+?/. 3 c.220C>G r.(?) p.(Leu74Val) Parent #1 - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - Charif et al. (in progress) - - Germline/De novo (untested) - - - 0 - DNA SEQ-NG blood - neuropathy, optic - Charif et al. (in progress) 2 generations, 2 carriers, 1 affected (son) F - France - - 0 - - 1 Khadidja Guehlouz
+?/. 3 c.220C>G r.(?) p.(Leu74Val) Paternal (confirmed) - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - Charif et al. (in progress) - - Germline yes - - 0 - DNA SEQ-NG blood - neuropathy, optic - Charif et al. (in progress) 2 generations, 2 carriers, 1 affected M - France - - 0 - - 2 Khadidja Guehlouz
-/+? 3 c.220C>G r.(?) p.(Leu74Val) Parent #1 - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - Charif et al. (in progress) - - Germline/De novo (untested) yes - - 0 - DNA SEQ-NG blood - neuropathy, optic - Charif et al. (in progress) 2 generations, 2 carriers, 1affected (son) M ? France - - 0 - - 1 Khadidja Guehlouz
?/. 3 c.220C>G r.(?) p.(Leu74Val) Parent #1 - 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 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 6 Mohammed Faruq
-/? 3 c.220C>G r.(?) p.(Leu74Val) Unknown - likely benign g.41903841C>G g.41507837C>G - - ACO2_000005 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 3 c.231C>T r.(?) p.(Pro77=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/. 3 c.231C>T r.(?) p.(=) Unknown - benign g.41903852C>T g.41507848C>T - - ACO2_000006 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.275G>A r.(?) p.(Arg92Gln) Parent #1 - pathogenic (dominant) g.41903896G>A g.41507892G>A - - ACO2_000103 - Charif et al. (in progress) - - Germline/De novo (untested) yes - - 0 - DNA SEQ-NG blood - neuropathy, optic - Charif et al. (in progress) - M ? France - - 0 - - 1 Khadidja Guehlouz
+/. 3 c.275G>A r.(?) p.(Arg92Gln) Unknown - pathogenic (dominant) g.41903896G>A g.41507892G>A - - ACO2_000103 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 3 c.282C>T r.(?) p.(Asp94=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. 3 c.282C>T r.(?) p.(Asp94=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/. 3 c.282C>T r.(?) p.(=) Unknown - benign g.41903903C>T g.41507899C>T - - ACO2_000007 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 3 c.316G>A r.(?) p.(Ala106Thr) Unknown - 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 - - - - - - - - - - - - - - - - - - -
?/. 3 c.316G>A r.(?) p.(Ala106Thr) Unknown - VUS g.41903937G>A g.41507933G>A - - ACO2_000035 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.323T>C r.(?) p.(Leu108Pro) Unknown - pathogenic (dominant) g.41903944T>C g.41507940T>C - - ACO2_000051 - Charif et al. (in progress) - - Germline/De novo (untested) - - - 0 - DNA SEQ-NG blood - neuropathy, optic - Charif et al. (in progress) - M - France - - 0 - - 1 Khadidja Guehlouz
+/. 3 c.323T>C r.(?) p.(Leu108Pro) Unknown - pathogenic (dominant) g.41903944T>C g.41507940T>C - - ACO2_000051 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 3 c.336C>G r.(?) p.(Ser112Arg) Both (homozygous) - pathogenic (recessive) g.41903957C>G g.41507953C>G - - ACO2_000001 Not in 256 control chromosomes PubMed: Spiegel 2012 - - Germline yes - - 0 - DNA SEQ-NG-S - - ICRD Family B III-3 PubMed: Spiegel 2012 3-generation family, 3 affected F yes Israel Arab muslim origin - 0 - - 1 Thomas Foulonneau
+?/. 3 c.336C>G r.(?) p.(Ser112Arg) Both (homozygous) - pathogenic (recessive) g.41903957C>G g.41507953C>G - - ACO2_000001 Not in 256 control chromosomes PubMed: Spiegel 2012 - - Germline yes - - 0 - DNA SEQ-NG-S - - ICRD Family B III-2 PubMed: Spiegel 2012 3-generation family, 3 affected F yes Israel Arab muslim origin - 0 - - 1 Thomas Foulonneau
+?/. 3 c.336C>G r.(?) p.(Ser112Arg) Both (homozygous) - pathogenic (recessive) g.41903957C>G g.41507953C>G - - ACO2_000001 Not in 256 control chromosomes PubMed: Spiegel 2012 - - Germline yes - - 0 - DNA SEQ-NG-S - - ICRD Family B III-1 PubMed: Spiegel 2012 3-generation family, 3 affected F yes Israel Arab muslim origin - 0 - - 1 Thomas Foulonneau
+?/. 3 c.336C>G r.(?) p.(Ser112Arg) Both (homozygous) - pathogenic (recessive) g.41903957C>G g.41507953C>G - - ACO2_000001 Not in 256 control chromosomes PubMed: Spiegel 2012 - - Germline yes - - 0 - DNA SEQ-NG-S - - ICRD Family A V-7 PubMed: Spiegel 2012 5-generation family, 8 affected, 3 death M yes Israel Arab muslim origin - 0 - - 1 Thomas Foulonneau
+?/. 3 c.336C>G r.(?) p.(Ser112Arg) Both (homozygous) - pathogenic (recessive) g.41903957C>G g.41507953C>G - - ACO2_000001 Not in 256 control chromosomes PubMed: Spiegel 2012 - - Germline yes - - 0 - DNA SEQ-NG-S - - ICRD Family A V-5 PubMed: Spiegel 2012 5-generation family, 8 affected, 3 death F yes Israel Arab muslim origin - 0 - - 1 Thomas Foulonneau
+?/. 3 c.336C>G r.(?) p.(Ser112Arg) Both (homozygous) - pathogenic (recessive) g.41903957C>G g.41507953C>G - - ACO2_000001 Not in 256 control chromosomes PubMed: Spiegel 2012 - - Germline yes - - 0 - DNA SEQ-NG-S - - ICRD Family A V-2 PubMed: Spiegel 2012 5-generation family, 8 affected, 3 death F yes Israel Arab muslim origin - 0 - - 1 Thomas Foulonneau
+?/. 3 c.336C>G r.(?) p.(Ser112Arg) Both (homozygous) - pathogenic (recessive) g.41903957C>G g.41507953C>G - - ACO2_000001 Not in 256 control chromosomes PubMed: Spiegel 2012 - - Germline yes - - 0 - DNA SEQ-NG-S - - ICRD Family A IV-5 PubMed: Spiegel 2012 5-generation family, 8 affected, 3 death F yes Israel Arab muslim origin - 0 - - 1 Thomas Foulonneau
+?/. 3 c.336C>G r.(?) p.(Ser112Arg) Both (homozygous) - pathogenic (recessive) g.41903957C>G g.41507953C>G - - ACO2_000001 Not in 256 control chromosomes PubMed: Spiegel 2012 - - Germline yes - - 0 - DNA SEQ-NG-S - - ICRD Family A IV-3 PubMed: Spiegel 2012 5-generation family, 8 affected, 3 death M yes Israel Arab muslim origin - 0 - - 1 Thomas Foulonneau
+/. 3 c.336C>G r.(?) p.(Ser112Arg) Both (homozygous) - pathogenic (recessive) g.41903957C>G g.41507953C>G - - ACO2_000001 Not in 256 control chromosomes PubMed: Abela 2017 - - Germline yes - - 0 - DNA SEQ peripheral blood - EE F3-P1 PubMed: Abela 2017 2 affected F ? Israel Arab - 0 - - 1 Thomas Foulonneau
+/. 3 c.336C>G r.(?) p.(Ser112Arg) Both (homozygous) - pathogenic (recessive) g.41903957C>G g.41507953C>G - - ACO2_000001 Not in 256 control chromosomes PubMed: Sadat 2016 - - Germline yes - - 0 - DNA SEQ - - EE F3-P2 PubMed: Abela2017 2 affected F ? Israel Arab - 0 - - 1 Thomas Foulonneau
+?/. 3 c.336C>G r.(?) p.(Ser112Arg) Unknown - pathogenic (recessive) g.41903957C>G g.41507953C>G - - ACO2_000001 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.365C>T r.(?) p.(Ser122Phe) Unknown - VUS g.41903986C>T - ACO2(NM_001098.2):c.365C>T (p.S122F) - ACO2_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 3i c.432+19T>C r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/. 3i c.432+19T>C r.(=) p.(=) Unknown - benign g.41904072T>C g.41508068T>C - - ACO2_000008 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.441C>G r.(?) p.(Asn147Lys) Paternal (confirmed) - pathogenic (dominant) g.41907888C>G g.41511884C>G - - ACO2_000052 - Charif et al. (in progress) - - Germline - - - 0 - DNA SEQ-NG blood - neuropathy, optic - Charif et al. (in progress) 3 generation, 3 carriers, 2 affected M ? France - - 0 - - 3 Khadidja Guehlouz
+/. 4 c.441C>G r.(?) p.(Asn147Lys) Maternal (confirmed) - pathogenic (dominant) g.41907888C>G g.41511884C>G - - ACO2_000052 - Charif et al. (in progress) - - Germline yes - - 0 - DNA SEQ-NG blood - neuropathy, optic - Charif et al. (in progress) 3 generations, 3 carriers, 2 affected M ? France - - 0 - - 1 Khadidja Guehlouz
-/+? 4 c.441C>G r.(?) p.(Asn147Lys) Parent #1 - likely pathogenic (dominant) g.41907888C>G g.41511884C>G - - ACO2_000052 Non affected Charif et al. (in progress) - - Germline/De novo (untested) - - - 0 - DNA SEQ-NG blood - neuropathy, optic - Charif et al. (in progress) 3 generations, 3 carriers, 2 affected ( son and grandson) F ? France - - 0 - - 1 Khadidja Guehlouz
+/. 4 c.441C>G r.(?) p.(Asn147Lys) Unknown - pathogenic (dominant) g.41907888C>G g.41511884C>G - - ACO2_000052 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.487G>A r.(?) p.(Val163Met) Parent #2 - likely pathogenic (recessive) g.41907934G>A g.41511930G>A - - ACO2_000104 - Charif et al. (in progress) - - Germline yes - - 0 - DNA SEQ-NG blood - neuropathy, optic - Charif et al. (in progress) Both non affected parents are HTZ for each variant F ? France - 00y-02y 0 - - 1 Khadidja Guehlouz
+/. 4 c.487G>A r.(?) p.(Val163Met) Unknown - likely pathogenic (recessive) g.41907934G>A g.41511930G>A - - ACO2_000104 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.487G>T r.(?) p.(Val163Leu) Paternal (inferred) - likely pathogenic (recessive) g.41907934G>T g.41511930G>T - - ACO2_000121 - PubMed: 32449285 - - Germline yes - - 0 - DNA SEQ-NG blood - neuropathy, optic, OPA-9 Subject 1 PubMed: Gibson 2020 2-generation family, 3 carriers, 2 affected M no United States Hispanic ancestry - 0 - - 2 Khadidja Guehlouz
+/. 4 c.487G>T r.(?) p.(Val163Leu) Paternal (inferred) - likely pathogenic (recessive) g.41907934G>T g.41511930G>T - - ACO2_000121 - PubMed: 32449285 - - Germline yes - - 0 - DNA SEQ-NG blood - neuropathy, optic, OPA-9 Subject 2 PubMed: Gibson 2020 2-generation family, 3 carriers, 2 affected F no United States Hispanic ancestry - 0 - - 1 Khadidja Guehlouz
+/. 4 c.487G>T r.(?) p.(Val163Leu) Unknown - likely pathogenic (recessive) g.41907934G>T g.41511930G>T - - ACO2_000121 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.514A>C r.(?) p.(Ile172Leu) Parent #1 - pathogenic (dominant) g.41907961A>C g.41511957A>C - - ACO2_000053 - Charif et al. (in progress) - - Germline/De novo (untested) yes - - 0 - DNA SEQ-NG blood - neuropathy, optic - Charif et al. (in progress) - F ? France - - 0 - - 1 Khadidja Guehlouz
+/. 4 c.514A>C r.(?) p.(Ile172Leu) Unknown - pathogenic (dominant) g.41907961A>C g.41511957A>C - - ACO2_000053 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4i c.525+1G>A r.spl? p.? Unknown - likely pathogenic (recessive) g.41907973G>A g.41511969G>A - - ACO2_000105 - Charif et al. (in progress) - - De novo yes - - 0 - DNA SEQ-NG blood - neuropathy, optic - Charif et al. (in progress) 2 generations, 2 carriers, 1 affected M ? France - - 0 - - 2 Khadidja Guehlouz
+/. 4i c.525+1G>A r.spl? p.? Unknown - likely pathogenic (recessive) g.41907973G>A g.41511969G>A - - ACO2_000105 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. 4i c.525+6G>A r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. 4i c.525+6G>A r.(=) p.(=) Unknown - likely benign g.41907978G>A g.41511974G>A - - ACO2_000036 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4i c.526-2A>G r.spl? p.? Paternal (confirmed) - pathogenic (dominant) g.41911379A>G g.41515375A>G - - ACO2_000054 - Charif et al. (in progress) - - Germline no - - 0 - DNA SEQ-NG blood - neuropathy, optic - Charif et al. (in progress) - F ? France - - 0 - - 1 Khadidja Guehlouz
+/. 4i c.526-2A>G r.spl? p.? Unknown - pathogenic (dominant) g.41911379A>G g.41515375A>G - - ACO2_000054 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 5 c.573T>C r.(?) p.(Thr191=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/. 5 c.573T>C r.(?) p.(=) Unknown - benign g.41911428T>C g.41515424T>C - - ACO2_000037 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 4 c.575A>G r.(?) p.(Asp192Gly) Parent #1 - pathogenic (dominant) g.41911430A>G g.41515426A>G - - ACO2_000055 - Charif et al. (in progress) - - Germline/De novo (untested) - - - 0 - DNA SEQ-NG blood - neuropathy, optic - Charif et al. (in progress) - M - France - - 0 - - 1 Khadidja Guehlouz
+?/. 4 c.575A>G r.(?) p.(Asp192Gly) Unknown - pathogenic (dominant) g.41911430A>G g.41515426A>G - - ACO2_000055 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.610A>C r.(?) p.(Ile204Leu) Maternal (inferred) - likely pathogenic (recessive) g.41911465A>C g.41515461A>C - - ACO2_000106 - Charif et al. (in progress) - - Germline/De novo (untested) yes - - 0 - DNA SEQ-NG blood - neuropathy, optic - Charif et al. (in progress) mother and daughter affected but no DNA M ? France - - 0 - - 1 Khadidja Guehlouz
+/. 4 c.610A>C r.(?) p.(Ile204Leu) Unknown - likely pathogenic (recessive) g.41911465A>C g.41515461A>C - - ACO2_000106 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 4 c.670C>T r.(?) p.(Leu224=) Unknown - benign g.41911525C>T g.41515521C>T - - ACO2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 4 c.670C>T r.(?) p.(=) Unknown - benign g.41911525C>T g.41515521C>T - - ACO2_000038 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.680C>A r.(?) p.(Pro227His) Both (homozygous) - pathogenic (dominant) g.41911535C>A g.41515531C>A - - ACO2_000107 - Charif et al. (in progress) - - Germline/De novo (untested) yes - - 0 - DNA SEQ-NG blood - neuropathy, optic - Charif et al. (in progress) - F ? France - - 0 - - 1 Khadidja Guehlouz
+/. 4 c.680C>A r.(?) p.(Pro227His) Unknown - pathogenic (dominant) g.41911535C>A g.41515531C>A - - ACO2_000107 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 5i c.684+1G>T r.spl? p.? Parent #1 - 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 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 18 Mohammed Faruq
+/. 5i c.684+1G>T r.spl? p.? Unknown - likely pathogenic (dominant) g.41911540G>T g.41515536G>T - - ACO2_000120 - - - rs747330606 SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 6 c.718G>A r.(?) p.(Gly240Ser) Maternal (confirmed) - pathogenic (dominant) g.41911804G>A g.41515800G>A - - ACO2_000056 - Charif et al. (in progress) - - Germline yes - - 0 - DNA SEQ-NG blood - neuropathy, optic - Charif et al. (in progress) 2 generation, 2 carriers, 1 affected M no France - - 0 - - 2 Khadidja Guehlouz
+/. 6 c.718G>A r.(?) p.(Gly240Ser) Parent #1 - pathogenic (dominant) g.41911804G>A g.41515800G>A - - ACO2_000056 - Charif et al. (in progress) - - Germline/De novo (untested) no - - 0 - DNA SEQ-NG blood - neuropathy, optic - Charif et al. (in progress) - F ? France - - 0 - - 1 Khadidja Guehlouz
+/. 6 c.718G>A r.(?) p.(Gly240Ser) Unknown - pathogenic (dominant) g.41911804G>A g.41515800G>A - - ACO2_000056 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
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