IVD

isovaleryl-CoA dehydrogenase

Summary

Isovaleryl-CoA dehydrogenase (IVD) is a mitochondrial matrix enzyme that catalyzes the third step in leucine catabolism. The genetic deficiency of IVD results in an accumulation of isovaleric acid, which is toxic to the central nervous system and leads to isovaleric acidemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2017]

Known Variants599 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7781828115:40,697,652T/C—likely benign
rs88605112615:40,697,705C/G—uncertain significance
rs13795132515:40,697,742T/G—likely benign
rs74912846615:40,697,783G/C—uncertain significance
rs57406496815:40,697,941C/G—likely benign
rs11425980815:40,697,981G/A—likely benign
rs54522952315:40,697,993C/T—likely benign
rs37359471715:40,698,020A/T—conflicting classifications of pathogenicity
rs56669107315:40,698,021T/C—uncertain significance
rs214128878515:40,698,025A/G—likely benign
rs75726175215:40,698,029A/Cmissense variantpathogenic
rs36886005615:40,698,030T/C—uncertain significance
rs20097741215:40,698,033C/T—uncertain significance
rs254261782415:40,698,034G/T—likely benign
rs37088604615:40,698,037T/C—likely benign
rs14818932315:40,698,039C/T—likely benign
rs75514420615:40,698,040G/C—likely benign
rs214128902315:40,698,043T/C—likely benign
rs74816049215:40,698,045G/A—uncertain significance
rs77381625215:40,698,050C/T—likely benign
rs130712312715:40,698,053G/T—uncertain significance
rs76041355315:40,698,055G/T—likely benign
rs214128926115:40,698,061T/C—likely benign
rs76376937415:40,698,062G/A—uncertain significance
rs214128929315:40,698,064G/A—likely benign
rs18958757915:40,698,066C/T—uncertain significance
rs90741476015:40,698,072G/A—likely pathogenic
rs14137630515:40,698,076G/C—uncertain significance
rs123401019215:40,698,077C/T—likely benign
rs37513898915:40,698,080C/T—uncertain significance
rs127727642715:40,698,085G/A—likely benign
rs76463346815:40,698,087C/T—uncertain significance
rs148254984715:40,698,088G/T—uncertain significance
rs214128953815:40,698,094C/G—likely benign
rs254261952315:40,698,097C/T—likely benign
rs254261958015:40,698,099T/C—uncertain significance
rs140344355115:40,698,100C/T—likely benign
rs254261968115:40,698,106C/G—likely benign
rs89853402115:40,698,109G/A—likely benign
rs254261984815:40,698,112G/C—likely benign
rs75129790315:40,698,115C/T—likely benign
rs7338312815:40,698,116C/T—benign
rs102617454915:40,698,127G/A—likely benign
rs214128986915:40,698,130C/G—likely benign
rs105751737915:40,698,130——pathogenic
rs214128994115:40,698,135A/G—uncertain significance
rs214128996115:40,698,137G/A—pathogenic
rs88722007915:40,698,139T/C—likely benign
rs254262056315:40,698,142A/G—likely benign
rs189035315515:40,698,148T/C—likely benign
rs214129005015:40,698,150G/A—likely pathogenic
rs13917913515:40,698,151G/C—likely benign
rs77767488715:40,698,152C/G—uncertain significance
rs12143428415:40,698,153T/Cmissense variantpathogenic
rs142609640515:40,698,154A/C—likely benign
rs91889997715:40,698,157C/A—uncertain significance
rs189035518815:40,698,161G/A—uncertain significance
rs189035549215:40,698,165A/T—uncertain significance
rs77128010615:40,698,170C/G—uncertain significance
rs92899192815:40,698,173G/A—pathogenic
rs159575083215:40,698,179A/C—likely benign
rs124891812515:40,698,180G/A—likely benign
rs214129038415:40,698,182C/G—likely benign
rs254262155615:40,698,187C/T—likely benign
rs189035918715:40,698,189C/T—likely benign
rs254262163315:40,698,190C/T—likely benign
rs11144085015:40,698,228A/G—benign
rs8017554415:40,699,727G/A—likely benign
rs143807520615:40,699,818T/C—likely benign
rs77961815415:40,699,823C/T—likely benign
rs145168163915:40,699,827C/T—likely benign
rs254264219015:40,699,828T/C—likely benign
rs189058612315:40,699,829C/T—likely benign
rs214130124615:40,699,830C/T—likely benign
rs74635827515:40,699,832A/G—likely benign
rs14409925115:40,699,835A/T—likely pathogenic
rs128676668915:40,699,837C/A—uncertain significance
rs214130130915:40,699,839T/C—likely benign
rs3469540315:40,699,840C/Tmissense variantpathogenic
rs222931115:40,699,841G/Tmissense variantpathogenic
rs76244098515:40,699,842T/A—conflicting classifications of pathogenicity
rs214130144215:40,699,848C/G—likely benign
rs189058998415:40,699,850T/C—likely pathogenic
rs146058364515:40,699,854T/C—likely benign
rs144391629415:40,699,855A/T—pathogenic
rs14599949115:40,699,856A/T—conflicting classifications of pathogenicity
rs214130157915:40,699,866G/A—likely benign
rs254264295515:40,699,869G/A—likely benign
rs254264297815:40,699,871A/C—uncertain significance
rs76731870915:40,699,873C/T—likely benign
rs76428816515:40,699,887C/T—likely benign
rs19986593115:40,699,891G/T—pathogenic
rs75892686415:40,699,894A/G—uncertain significance
rs78057957115:40,699,896C/T—likely benign
rs74727382815:40,699,897G/Amissense variantpathogenic
rs75397888315:40,699,907A/G—uncertain significance
rs74895073915:40,699,911G/A—likely benign
rs101821581315:40,699,917G/A—likely benign
rs139870526215:40,699,919A/G—uncertain significance
rs14009868615:40,699,920C/T—conflicting classifications of pathogenicity

Showing 100 of 599 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.