GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
DLD A12Tinsufficiently evaluated none, f=0.008unknown

(15 web hits)

var-GS19020-1100-36-ASM
var-GS19017-1100-36-ASM
DLD N18Sinsufficiently evaluated not reviewed, f=0.000unknown var-GS19020-1100-36-ASM
DLD S28Pinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_F02 from PGP sample 95788191
DLD K37Einsufficiently evaluated pathogenicunknown

(10 web hits)

DLD I156Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_A04 from PGP sample 08188426
DLD G229Cpathogenic, f=0.000recessive

Causes dihydrolipoyl dehydrogenase deficiency in a recessive manner, a severe condition affecting several body systems. Recorded in ClinVar by OMIM (http://www.ncbi.nlm.nih.gov/clinvar/RCV000012744) this was is original reported by Shaag et al 1999 (PMID: 9934985) who found this variant causal in 12 of 14 mutant alleles in 7 Ashkenazi families.

(14 web hits)

DLD M361Vinsufficiently evaluated pathogenicunknown

(4 web hits)

DLD E375Kinsufficiently evaluated pathogenicunknown

(10 web hits)

DLD I393Tinsufficiently evaluated pathogenicunknown

(4 web hits)

DLD P453Linsufficiently evaluated pathogenicunknown

(4 web hits)

DLD R460Ginsufficiently evaluated pathogenicunknown

(7 web hits)

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Total results: 11

Gene search

"GENE" or "GENE A123C":

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