GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
CPT2 A20Vinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
CPT2 P50Hinsufficiently evaluated pathogenicunknown

(29 web hits)

CPT2 A101Vinsufficiently evaluated pathogenic, f=0.005other

This variant was reported to cause adult-onset carnitine palmitoyltransferase II deficiency in a dominant-negative manner, but the allele frequency in the 1000 Genomes project (4.5%) means this is likely a benign polymorphism and rules out the possibility of this variant being dominant.

var-GS19129-1100-36-ASM
CPT2 T109Pinsufficiently evaluated noneunknown
CPT2 S113Lpathogenic, f=0.001recessive

This is the most common variant associated with late-onset carnitine palmitoyltransferase deficiency, which is classically viewed as recessive.

(80 web hits)

CGI sample GS00253-DNA_D01_200_37
CPT2 D118Ginsufficiently evaluated not reviewed, f=0.000unknown var-GS19669-1100-36-ASM
CPT2 Y120Cinsufficiently evaluated pathogenicunknown

(9 web hits)

CPT2 R124Xinsufficiently evaluated not reviewedunknown

(4 web hits)

CPT2 E174Kinsufficiently evaluated pathogenicunknown

(10 web hits)

CPT2 R193Hinsufficiently evaluated noneunknown
CPT2 D213Ginsufficiently evaluated pathogenicunknown

(7 web hits)

CPT2 P227Linsufficiently evaluated pathogenic, f=0.000unknown

(6 web hits)

CPT2 F352Cinsufficiently evaluated not reviewed, f=0.007unknown var-GS18558-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CPT2 V368Iinsufficiently evaluated not reviewed, f=0.456unknown

(31 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
CGI sample GS000005532
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
var-GS19017-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37 (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
CGI sample GS00253-DNA_C01_200_37
var-GS18526-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM (hom)
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM (hom)
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
CPT2 F383Yinsufficiently evaluated pathogenic, f=0.000unknown

(14 web hits)

CPT2 E454Xinsufficiently evaluated pathogenicunknown

(4 web hits)

CPT2 K458Qinsufficiently evaluated not reviewed, f=0.001unknown var-GS21767-1100-36-ASM
CPT2 R503Cinsufficiently evaluated pathogenicunknown

(56 web hits)

CPT2 A525Tinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B07 from PGP sample 61499538
CPT2 G549Dinsufficiently evaluated not reviewedunknown

(14 web hits)

CPT2 Q550Rinsufficiently evaluated not reviewedunknown

(4 web hits)

CPT2 D553Ninsufficiently evaluated pathogenicunknown

(8 web hits)

CPT2 S588Cinsufficiently evaluated not reviewed, f=0.003unknown var-GS19239-1100-36-ASM
var-GS19238-1100-36-ASM
CPT2 P604Sinsufficiently evaluated not reviewedunknown

(5 web hits)

CPT2 Y628Sinsufficiently evaluated pathogenicunknown

(13 web hits)

CPT2 G630Cinsufficiently evaluated not reviewedunknown
CPT2 R631Cinsufficiently evaluated pathogenicunknown

(50 web hits)

CPT2 M647Iinsufficiently evaluated none, f=0.000unknown var-GS18504-1100-36-ASM
var-GS18517-1100-36-ASM
CPT2 M647Vinsufficiently evaluated none, f=0.167unknown

(24 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01175-DNA_H01 from PGP sample 94797469
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS000005532
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS00253-DNA_A01_200_37
var-GS19648-1100-36-ASM
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS00253-DNA_D01_200_37
var-GS19670-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01175-DNA_D03 from PGP sample 27486199
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Total results: 29

Gene search

"GENE" or "GENE A123C":

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