Full data view for gene ACAD8

Information The variants shown are described using the NM_014384.2 transcript reference sequence.

89 entries on 1 page. Showing entries 1 - 89.
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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     
+/. - c.1A>C r.(?) p.(Met1?) Paternal (confirmed) - pathogenic g.134123495A>C g.134253601A>C Met1Leu - ACAD8_000028 - - - - Germline yes - - - - DNA SEQ-NG-I blood - IBDD - - unaffected heterozygous carrier parents M no Spain - 00y11m - - - 1 Belen Perez
+/. 1 c.1A>C r.(?) p.(Met1?) Parent #1 - pathogenic g.134123495A>C g.134253601A>C - - ACAD8_000028 - PubMed: Navarrete 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - 119-gene panel metabolic syndrome Pat1 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - 1 Johan den Dunnen
+?/+? 1 c.3G>T r.(?) p.Met1Ile Unknown - likely pathogenic g.134123497G>T g.134253603G>T - - ACAD8_000017 - PubMed: Yoo et al. 2007 - - Unknown ? - - - - DNA SEQ - - IBDD - PubMed: Yoo 2007 - M ? Korea, South (Republic) Asian - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 2 c.162_163dup r.(?) p.(Phe55SerfsTer24) Paternal (confirmed) - likely pathogenic g.134126494_134126495dup g.134256600_134256601dup - - ACAD8_000005 - PubMed: Sass et al. 2004 - - Unknown ? - - - - DNA SEQ - - IBDD - PubMed: Sass 2004 - F ? Germany white - - - - 1 Division of Human Genetics, Innsbruck
-?/. - c.173G>A r.(?) p.(Arg58Gln) Unknown - likely benign g.134126505G>A g.134256611G>A ACAD8(NM_014384.2):c.173G>A (p.R58Q) - ACAD8_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.173G>A r.(?) p.(Arg58Gln) Unknown - likely benign g.134126505G>A - ACAD8(NM_014384.2):c.173G>A (p.R58Q) - ACAD8_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 3 c.233T>C r.(?) p.Met78Thr Paternal (inferred) - likely pathogenic g.134127004T>C g.134257110T>C M56T - ACAD8_000023 - PubMed: Oglesbee et al. 2007 - - Unknown ? - - - - DNA SEQ - - IBDD - PubMed: Oglesbee 2007 - M ? - Hispanic - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 3 c.233T>C r.(?) p.Met78Thr Maternal (inferred) - likely pathogenic g.134127004T>C g.134257110T>C M56T - ACAD8_000023 - PubMed: Oglesbee et al. 2007 - - Unknown ? - - - - DNA SEQ - - IBDD - PubMed: Oglesbee 2007 - M ? - Hispanic - - - - 1 Division of Human Genetics, Innsbruck
+?/. - c.258C>G r.(?) p.Phe86Leu Paternal (confirmed) - likely pathogenic g.134127029C>G g.134257135C>G - - ACAD8_000030 - - - - Germline - - - - - DNA SEQ-NG-I - - IBDD - - - - - - - - - - - 1 Belen Perez
+?/. 3 c.258C>G r.(?) p.(Phe86Leu) Parent #1 - likely pathogenic g.134127029C>G g.134257135C>G - - ACAD8_000030 - PubMed: Navarrete 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - 119-gene panel metabolic syndrome Pat2 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - 1 Johan den Dunnen
-?/. - c.258C>T r.(?) p.(Phe86=) Unknown - likely benign g.134127029C>T - ACAD8(NM_014384.2):c.258C>T (p.F86=) - ACAD8_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.261del r.(?) p.(Val89SerfsTer35) Unknown - VUS g.134127032del g.134257138del ACAD8(NM_014384.2):c.261delA (p.V89Sfs*35) - ACAD8_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.286G>A r.(?) p.(Gly96Ser) Unknown - VUS g.134127057G>A g.134257163G>A 286C>A - ACAD8_000049 - PubMed: Wang 2019 - - Germline - 2/6 case chromosomes - - - DNA SEQ - - ? - PubMed: Wang 2019 screening 401,660 newborns for inborn errors of metabolism - - China - - - - - 2 Johan den Dunnen
+?/+? 3 c.289G>A r.(?) p.Gly97Arg Paternal (inferred) - likely pathogenic g.134127060G>A g.134257166G>A - - ACAD8_000008 - Submitted by J. Zschocke - - Unknown ? - - - - DNA SEQ - - IBDD - Submitted by J. Zschocke - ? ? - - - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 3 c.289G>A r.(?) p.Gly97Arg Unknown - likely pathogenic g.134127060G>A g.134257166G>A G75R - ACAD8_000008 - PubMed: Oglesbee et al. 2007 - - Unknown ? - - - - DNA SEQ - - IBDD - PubMed: Oglesbee 2007 - F ? - white, European - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 3 c.289G>A r.(?) p.Gly97Arg Maternal (inferred) - likely pathogenic g.134127060G>A g.134257166G>A - - ACAD8_000008 - Submitted by J. Zschocke - - Unknown ? - - - - DNA SEQ - - IBDD - Submitted by J. Zschocke - ? ? - - - - - - 1 Division of Human Genetics, Innsbruck
?/. - c.289G>A r.(?) p.(Gly97Arg) Unknown - VUS g.134127060G>A g.134257166G>A ACAD8(NM_014384.2):c.289G>A (p.G97R) - ACAD8_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.289G>A r.(?) p.(Gly97Arg) Unknown - pathogenic g.134127060G>A g.134257166G>A ACAD8(NM_014384.2):c.289G>A (p.G97R) - ACAD8_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.305G>A r.(?) p.(Arg102His) Unknown - VUS g.134127076G>A g.134257182G>A - - ACAD8_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.305G>T r.(?) p.(Arg102Leu) Unknown - VUS g.134127076G>T - ACAD8(NM_014384.2):c.305G>T (p.R102L) - ACAD8_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 3 c.348C>A r.(?) p.Cys116X Unknown - likely pathogenic g.134127119C>A g.134257225C>A - - ACAD8_000013 - PubMed: Pedersen et al. 2006 - - Unknown ? - - - - DNA SEQ - - IBDD - PubMed: Pedersen 2006, PubMed: Koeberl 2003 - F ? United States white - - - - 1 Division of Human Genetics, Innsbruck
+/. - c.360del r.(?) p.(Ala121Profs*3) Maternal (confirmed) - pathogenic g.134127131del g.134257237del 360delA - ACAD8_000031 - - - - Germline - - - - - DNA SEQ-NG-I - - IBDD - - - - - - - - - - - 1 Belen Perez
+/. - c.360del r.(?) p.(Ala121ProfsTer3) Parent #2 - pathogenic g.134127131del g.134257237del 360delA - ACAD8_000031 - PubMed: Navarrete 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - 119-gene panel metabolic syndrome Pat2 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - 1 Johan den Dunnen
?/. - c.365_370del r.(?) p.(Tyr122_Ser124delinsCys) Unknown - VUS g.134127136_134127141del g.134257242_134257247del ACAD8(NM_014384.2):c.365_370del (p.?) - ACAD8_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.374del r.(?) p.(Ile125ThrfsTer8) Unknown - VUS g.134127145del g.134257251del ACAD8(NM_014384.2):c.374del (p.?) - ACAD8_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.377_378insGCAC r.(?) p.(His126GlnfsTer10) Unknown - VUS g.134127148_134127149insGCAC g.134257254_134257255insGCAC ACAD8(NM_014384.2):c.377_378insGCAC (p.?) - ACAD8_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.384G>A r.(?) p.(Met128Ile) Parent #1 - likely pathogenic g.134128412G>A g.134258518G>A - - ACAD8_000038 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs374317179 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
+?/+? 4 c.384G>C r.(?) p.Met128Ile Paternal (inferred) - likely pathogenic g.134128412G>C g.134258518G>C - - ACAD8_000007 - PubMed: Sass et al. 2004 - - Unknown ? - - - - DNA SEQ - - IBDD - PubMed: Sass 2004 - M ? Turkey white - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 4 c.384G>C r.(?) p.Met128Ile Maternal (inferred) - likely pathogenic g.134128412G>C g.134258518G>C - - ACAD8_000007 - PubMed: Sass et al. 2004 - - Unknown ? - - - - DNA SEQ - - IBDD - PubMed: Sass 2004 - M ? Turkey white - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 4 c.400G>T r.(?) p.Asp134Tyr Paternal (inferred) - likely pathogenic g.134128428G>T g.134258534G>T - - ACAD8_000015 - PubMed: Pedersen et al. 2006 - - Unknown ? - - - - DNA SEQ - - IBDD - PubMed: Pedersen 2006 - M ? United States white - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 4 c.400G>T r.(?) p.Asp134Tyr Maternal (inferred) - likely pathogenic g.134128428G>T g.134258534G>T - - ACAD8_000015 - PubMed: Pedersen et al. 2006 - - Unknown ? - - - - DNA SEQ - - IBDD - PubMed: Pedersen 2006 - M ? United States white - - - - 1 Division of Human Genetics, Innsbruck
-?/. - c.408C>T r.(?) p.(Phe136=) Unknown - likely benign g.134128436C>T - ACAD8(NM_014384.2):c.408C>T (p.F136=) - ACAD8_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 4 c.409G>A r.(?) p.Gly137Arg Unknown - likely pathogenic g.134128437G>A g.134258543G>A - - ACAD8_000009 - PubMed: Pedersen et al. 2006 - - Unknown ? - - - - DNA SEQ - - IBDD - PubMed: Pedersen 2006 - F ? Denmark white - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 4 c.443C>T r.(?) p.Pro148Leu Unknown - likely pathogenic g.134128471C>T g.134258577C>T P126L mature protein - ACAD8_000018 unknown variant 2nd chromosome PubMed: Battaile et al. 2004 - - Unknown ? - - - - DNA SEQ - - IBDD - PubMed: Battaile 2004 "Newborn H" in Pedersen et al. (2006) ? ? - - - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 4 c.443C>T r.(?) p.Pro148Leu Unknown - likely pathogenic g.134128471C>T g.134258577C>T P126L - ACAD8_000018 - PubMed: Pedersen et al. 2006 - - Unknown ? - - - - DNA SEQ - - IBDD - PubMed: Oglesbee 2007, ? PubMed: Pena 2012 Patient 4 in Oglesbee et al. (2007). ? Patient 5 in Pena et al. (2012)?rn F ? - white, European - - - - 1 Division of Human Genetics, Innsbruck
-?/. - c.444G>T r.(?) p.(Pro148=) Unknown - likely benign g.134128472G>T - ACAD8(NM_014384.2):c.444G>T (p.P148=) - ACAD8_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.455T>C r.(?) p.Met152Thr Unknown - pathogenic g.134128483T>C g.134258589T>C - - ACAD8_000011 - PubMed: Pedersen et al. 2006 - - Unknown ? - - - - DNA SEQ - - IBDD - PubMed: Pedersen 2006 - F ? United States white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.455T>C r.(?) p.Met152Thr Unknown - pathogenic g.134128483T>C g.134258589T>C M130T - ACAD8_000011 Oglesbee (2007): c.455T>C in cis with a potential splice site alteration (described as +3A>G exon 3 in an ACAD8 10 exon nomenclature) PubMed: Pedersen et al. 2006 - - Unknown ? - - - - DNA SEQ - - IBDD - PubMed: Oglesbee 2007 - M ? - white, European - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.455T>C r.(?) p.Met152Thr Unknown - pathogenic g.134128483T>C g.134258589T>C M130T - ACAD8_000011 Oglesbee (2007): in cis with potential splice site alteration (described as +3A>G exon 3 in an ACAD8 10 exon nomenclature) PubMed: Pedersen et al. 2006 - - Unknown ? - - - - DNA SEQ - - IBDD - PubMed: Oglesbee 2007 - F ? - white, European - - - - 1 Division of Human Genetics, Innsbruck
+/+ 4 c.455T>C r.(?) p.Met152Thr Unknown - pathogenic g.134128483T>C g.134258589T>C M130T - ACAD8_000011 Oglesbee (2007): c.455T>C in cis with potential splice site alteration (described as +3A>G exon 3 in an ACAD8 10 exon nomenclature) PubMed: Pedersen et al. 2006 - - Unknown ? - - - - DNA SEQ - - IBDD - PubMed: Oglesbee 2007, ? PubMed: Pena 2012 Patient 4 in Oglesbee et al. (2007). ? Patient 5 in Pena et al. (2012)?rn F ? - white, European - - - - 1 Division of Human Genetics, Innsbruck
?/. - c.455T>C r.(?) p.(Met152Thr) Unknown - VUS g.134128483T>C - ACAD8(NM_014384.3):c.455T>C (p.M152T) - ACAD8_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/+? 5 c.512C>G r.(?) p.Ser171Cys Paternal (confirmed) - VUS g.134128923C>G g.134259029C>G S149C - ACAD8_000002 - PubMed: Oglesbee et al. 2007 - - Unknown ? - - - - DNA SEQ - - IBDD - Submitted by database curator - F ? Germany white - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 5 c.512C>G r.(?) p.Ser171Cys Paternal (inferred) - likely pathogenic g.134128923C>G g.134259029C>G S149C - ACAD8_000002 - PubMed: Oglesbee et al. 2007 - - Unknown ? - - - - DNA SEQ - - IBDD - Submitted by database curator - F ? - - - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 5 c.512C>G r.(?) p.Ser171Cys Maternal (inferred) - likely pathogenic g.134128923C>G g.134259029C>G S149C - ACAD8_000002 - PubMed: Oglesbee et al. 2007 - - Unknown ? - - - - DNA SEQ - - IBDD - Submitted by database curator - F ? - - - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 5 c.512C>G r.(?) p.Ser171Cys Unknown - likely pathogenic g.134128923C>G g.134259029C>G S149C - ACAD8_000002 - PubMed: Oglesbee et al. 2007 - - Unknown ? - - - - DNA SEQ - - IBDD - PubMed: Oglesbee 2007 - M ? - white, European - - - - 1 Division of Human Genetics, Innsbruck
-?/. - c.512C>G r.(?) p.(Ser171Cys) Unknown - likely benign g.134128923C>G g.134259029C>G ACAD8(NM_014384.2):c.512C>G (p.S171C) - ACAD8_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.512C>G r.(?) p.(Ser171Cys) Paternal (confirmed) - VUS g.134128923C>G g.134259029C>G p.(Ser171Cys) - ACAD8_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - IBDD - - - - - - - - - - - 1 Belen Perez
-?/. - c.512C>G r.(?) p.(Ser171Cys) Unknown - likely benign g.134128923C>G - ACAD8(NM_014384.2):c.512C>G (p.S171C) - ACAD8_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.512C>G r.(?) p.(Ser171Cys) Parent #1 - likely pathogenic g.134128923C>G g.134259029C>G - - ACAD8_000002 - PubMed: Navarrete 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - 119-gene panel metabolic syndrome Pat3 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - 1 Johan den Dunnen
?/. - c.568-3C>G r.spl p.? Unknown - VUS g.134129499C>G g.134259605C>G - - ACAD8_000050 - PubMed: Wang 2019 - - Germline - 1/6 case chromosomes - - - DNA SEQ - - ? - PubMed: Wang 2019 screening 401,660 newborns for inborn errors of metabolism - - China - - - - - 1 Johan den Dunnen
+?/+? 6 c.607G>A r.(?) p.Val203Ile Maternal (confirmed) - likely pathogenic g.134129541G>A g.134259647G>A - - ACAD8_000006 - PubMed: Sass et al. 2004 - - Unknown ? - - - - DNA SEQ - - IBDD - PubMed: Sass 2004 - F ? Germany white - - - - 1 Division of Human Genetics, Innsbruck
+?/. - c.617G>A r.(?) p.(Arg206Gln) Paternal (confirmed) - likely pathogenic g.134129551G>A g.134259657G>A - - ACAD8_000032 - - - - Germline - - - - - DNA SEQ-NG-I - - IBDD - - - - - - - - - - - 1 Belen Perez
+?/. 6 c.617G>A r.(?) p.(Arg206Gln) Parent #1 - likely pathogenic g.134129551G>A g.134259657G>A - - ACAD8_000032 - PubMed: Navarrete 2019 - rs374148675 Germline - - - - - DNA SEQ, SEQ-NG - 119-gene panel metabolic syndrome Pat4 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - 1 Johan den Dunnen
+?/+? 6 c.687T>G r.(?) p.Phe229Leu Unknown - likely pathogenic g.134129621T>G g.134259727T>G F207L - ACAD8_000022 - PubMed: Oglesbee et al. 2007 - - Unknown ? - - - - DNA SEQ - - IBDD - PubMed: Oglesbee 2007 Patient 7a in Oglesbee et al. (2007) M ? - Hispanic - - - - 1 Division of Human Genetics, Innsbruck
+/. - c.730C>T r.(?) p.(Arg244Ter) Unknown - pathogenic g.134130962C>T - ACAD8(NM_014384.3):c.730C>T (p.R244*) - ACAD8_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.823G>A r.(?) p.(Gly275Arg) Maternal (confirmed) - likely pathogenic g.134131055G>A g.134261161G>A - - ACAD8_000029 - - - - Germline yes - - - - DNA SEQ-NG-I blood - IBDD - - unaffected heterozygous carrier parents M no Spain - 00y11m - - - 1 Belen Perez
+?/. - c.823G>A r.(?) p.(Gly275Arg) Maternal (confirmed) - likely pathogenic g.134131055G>A g.134261161G>A - - ACAD8_000029 - - - - Germline - - - - - DNA SEQ-NG-I - - IBDD - - - - - - - - - - - 1 Belen Perez
+?/. 7 c.823G>A r.(?) p.(Gly275Arg) Parent #2 - likely pathogenic g.134131055G>A g.134261161G>A - - ACAD8_000029 - PubMed: Navarrete 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - 119-gene panel metabolic syndrome Pat1 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - 1 Johan den Dunnen
+?/. 7 c.823G>A r.(?) p.(Gly275Arg) Parent #2 - likely pathogenic g.134131055G>A g.134261161G>A - - ACAD8_000029 - PubMed: Navarrete 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - 119-gene panel metabolic syndrome Pat3 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - 1 Johan den Dunnen
+?/+? 7i c.841+3G>C r.706_841del p.? Paternal (confirmed) - likely pathogenic g.134131076G>C g.134261182G>C - - ACAD8_000024 splice (confirmed), skipping of entire exon 7, frameshift, premature stop codon in exon 9 PubMed: Popek et al. 2010 - - Unknown ? - - - - DNA, RNA RT-PCR, SEQ - - IBDD - PubMed: Popek 2010 consanguineous parents, patient is additionally affected with glutaric aciduria type 1 F yes Jordan - - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 7i c.841+3G>C r.706_841del p.? Maternal (confirmed) - likely pathogenic g.134131076G>C g.134261182G>C - - ACAD8_000024 splice (confirmed), skipping of entire exon 7, frameshift, premature stop codon in exon 9 PubMed: Popek et al. 2010 - - Unknown ? - - - - DNA, RNA RT-PCR, SEQ - - IBDD - PubMed: Popek 2010 consanguineous parents, patient is additionally affected with glutaric aciduria type 1 F yes Jordan - - - - - 1 Division of Human Genetics, Innsbruck
-/. - c.841+7T>C r.(=) p.(=) Unknown - benign g.134131080T>C - ACAD8(NM_014384.3):c.841+7T>C - ACAD8_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.842-8C>G r.(=) p.(=) Unknown - likely benign g.134131161C>G - ACAD8(NM_014384.2):c.842-8C>G - ACAD8_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 8 c.867C>A r.(?) p.His289Gln Paternal (inferred) - likely pathogenic g.134131194C>A g.134261300C>A H267Q - ACAD8_000020 - PubMed: Oglesbee et al. 2007 - - Unknown ? - - - - DNA SEQ - - IBDD - PubMed: Oglesbee 2007, ? PubMed: Pena 2012 Patient 3a in Oglesbee et al. (2007), Sibling of patient 3b in Oglesbee et al. (2007), ? Patient 6 in Pena et al. (2012)?rn M ? India East, Asian - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 8 c.867C>A r.(?) p.His289Gln Paternal (inferred) - likely pathogenic g.134131194C>A g.134261300C>A H267Q - ACAD8_000020 - PubMed: Oglesbee et al. 2007 - - Unknown ? - - - - DNA SEQ - - IBDD - PubMed: Oglesbee 2007, ? PubMed: Pena 2012 Patient 3b in Oglesbee et al. (2007), Sibling of patient 3a in Oglesbee et al. (2007), ? Patient 7 in Pena et al. (2012)? F ? India East, Asian - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 8 c.867C>A r.(?) p.His289Gln Maternal (inferred) - likely pathogenic g.134131194C>A g.134261300C>A H267Q - ACAD8_000020 - PubMed: Oglesbee et al. 2007 - - Unknown ? - - - - DNA SEQ - - IBDD - PubMed: Oglesbee 2007, ? PubMed: Pena 2012 Patient 3a in Oglesbee et al. (2007), Sibling of patient 3b in Oglesbee et al. (2007), ? Patient 6 in Pena et al. (2012)?rn M ? India East, Asian - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 8 c.867C>A r.(?) p.His289Gln Maternal (inferred) - likely pathogenic g.134131194C>A g.134261300C>A H267Q - ACAD8_000020 - PubMed: Oglesbee et al. 2007 - - Unknown ? - - - - DNA SEQ - - IBDD - PubMed: Oglesbee 2007, ? PubMed: Pena 2012 Patient 3b in Oglesbee et al. (2007), Sibling of patient 3a in Oglesbee et al. (2007), ? Patient 7 in Pena et al. (2012)? F ? India East, Asian - - - - 1 Division of Human Genetics, Innsbruck
+?/. - c.870del r.(?) p.(Ser291Leufs*41) Unknown - likely pathogenic g.134131197del - ACAD8(NM_014384.3):c.870delC (p.S291Lfs*41) - ACAD8_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 8 c.905G>A r.(?) p.Arg302Gln Paternal (inferred) - likely pathogenic g.134131232G>A g.134261338G>A - - ACAD8_000016 - PubMed: Nguyen et al. 2002 - - Unknown ? - - - - DNA, RNA RT-PCR, SEQ - - IBDD - PubMed: Nguyen 2002 - F ? - - - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 8 c.905G>A r.(?) p.Arg302Gln Maternal (inferred) - likely pathogenic g.134131232G>A g.134261338G>A - - ACAD8_000016 - PubMed: Nguyen et al. 2002 - - Unknown ? - - - - DNA, RNA RT-PCR, SEQ - - IBDD - PubMed: Nguyen 2002 - F ? - - - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 9 c.958G>A r.(?) p.Ala320Thr Unknown - likely pathogenic g.134131650G>A g.134261756G>A A298T - ACAD8_000010 - PubMed: Pedersen et al. 2006 - - Unknown ? - - - - DNA SEQ - - IBDD - PubMed: Oglesbee 2007 - F ? - white, European - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 9 c.958G>A r.(?) p.Ala320Thr Unknown - likely pathogenic g.134131650G>A g.134261756G>A - - ACAD8_000010 - PubMed: Pedersen et al. 2006 - - Unknown ? - - - - DNA SEQ - - IBDD - PubMed: Pedersen 2006 - F ? Denmark white - - - - 1 Division of Human Genetics, Innsbruck
?/+? 9 c.965T>G r.(?) p.Met322Arg Maternal (confirmed) - VUS g.134131657T>G g.134261763T>G - - ACAD8_000001 - Submitted by database curator - - Unknown ? - - - - DNA SEQ - - IBDD - Submitted by database curator - F ? Germany white - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 9 c.988C>T r.(?) p.Arg330Trp Unknown - likely pathogenic g.134131680C>T g.134261786C>T R308W mature protein - ACAD8_000019 unknown variant 2nd chromosome PubMed: Battaile et al. 2004 - - Unknown ? - - - - DNA SEQ - - IBDD - PubMed: Battaile 2004 "Newborn I" in Pedersen 2006 ? ? - - - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 9 c.988C>T r.(?) p.Arg330Trp Paternal (inferred) - likely pathogenic g.134131680C>T g.134261786C>T R308W - ACAD8_000019 - PubMed: Pedersen et al. 2006 - - Unknown ? - - - - DNA SEQ - - IBDD - PubMed: Oglesbee 2007 - F ? - Africa, North - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 9 c.988C>T r.(?) p.Arg330Trp Maternal (inferred) - likely pathogenic g.134131680C>T g.134261786C>T R308W - ACAD8_000019 - PubMed: Pedersen et al. 2006 - - Unknown ? - - - - DNA SEQ - - IBDD - PubMed: Oglesbee 2007 - F ? - Africa, North - - - - 1 Division of Human Genetics, Innsbruck
?/. - c.988C>T r.(?) p.(Arg330Trp) Unknown - VUS g.134131680C>T - ACAD8(NM_014384.2):c.988C>T (p.R330W) - ACAD8_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 9 c.1000C>T r.(?) p.Arg334Cys Unknown - likely pathogenic g.134131692C>T g.134261798C>T - - ACAD8_000014 - PubMed: Pedersen et al. 2006 - - Unknown ? - - - - DNA SEQ - - IBDD - PubMed: Pedersen 2006, PubMed: Koeberl 2003 - F ? United States white - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 9 c.1000C>T r.(?) p.Arg334Cys Unknown - likely pathogenic g.134131692C>T g.134261798C>T - - ACAD8_000014 - PubMed: Pedersen et al. 2006 - - Unknown ? - - - - DNA SEQ - - IBDD - PubMed: Yoo 2007 - M ? Korea, South (Republic) Asian - - - - 1 Division of Human Genetics, Innsbruck
+?/. - c.1000C>T r.(?) p.(Arg334Cys) Maternal (confirmed) - likely pathogenic g.134131692C>T g.134261798C>T - - ACAD8_000014 - - - - Germline - - - - - DNA SEQ-NG-I - - IBDD - - - - - - - - - - - 1 Belen Perez
+?/. - c.1000C>T r.(?) p.(Arg334Cys) Unknown - likely pathogenic g.134131692C>T g.134261798C>T - - ACAD8_000014 - PubMed: Wang 2019 - - Germline - 3/6 case chromosomes - - - DNA SEQ - - ? - PubMed: Wang 2019 screening 401,660 newborns for inborn errors of metabolism - - China - - - - - 3 Johan den Dunnen
+?/. - c.1000C>T r.(?) p.(Arg334Cys) Parent #2 - likely pathogenic g.134131692C>T g.134261798C>T - - ACAD8_000014 - PubMed: Navarrete 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - 119-gene panel metabolic syndrome Pat4 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - 1 Johan den Dunnen
+?/+? 10 c.1129G>A r.(?) p.Gly377Ser Unknown - likely pathogenic g.134132450G>A g.134262556G>A G355S - ACAD8_000021 unknown variant 2nd chromosome PubMed: Oglesbee et al. 2007 - - Unknown ? - - - - DNA SEQ - - IBDD - PubMed: Oglesbee 2007 - M ? - African-American - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 10 c.1129G>A r.(?) p.Gly377Ser Unknown - likely pathogenic g.134132450G>A g.134262556G>A G355S - ACAD8_000021 - PubMed: Oglesbee et al. 2007 - - Unknown ? - - - - DNA SEQ - - IBDD - PubMed: Oglesbee 2007 - F ? - white, European - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 10 c.1129G>A r.(?) p.Gly377Ser Unknown - likely pathogenic g.134132450G>A g.134262556G>A G355S - ACAD8_000021 - PubMed: Oglesbee et al. 2007 - - Unknown ? - - - - DNA SEQ - - IBDD - PubMed: Oglesbee 2007 Patient 7a in Oglesbee et al. (2007) M ? - Hispanic - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 10 c.1154A>G r.(?) p.Gln385Arg Unknown - likely pathogenic g.134132475A>G g.134262581A>G - - ACAD8_000012 - PubMed: Pedersen et al. 2006 - - Unknown ? - - - - DNA SEQ - - IBDD - PubMed: Pedersen 2006 - F ? United States white - - - - 1 Division of Human Genetics, Innsbruck
?/. - c.1154A>G r.(?) p.(Gln385Arg) Unknown - VUS g.134132475A>G - ACAD8(NM_014384.2):c.1154A>G (p.Q385R) - ACAD8_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1162G>A r.(?) p.(Val388Met) Unknown - likely benign g.134132483G>A - ACAD8(NM_014384.2):c.1162G>A (p.V388M) - ACAD8_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1195+12C>T r.(=) p.(=) Unknown - benign g.134132528C>T - ACAD8(NM_014384.3):c.1195+12C>T - ACAD8_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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