GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
LDLR Q12Xinsufficiently evaluated pathogenicunknown

(37 web hits)

LDLR W23Xinsufficiently evaluated pathogenicunknown

(59 web hits)

LDLR C25Sinsufficiently evaluated pathogenicunknown

(5 web hits)

LDLR C27Winsufficiently evaluated noneunknown

(7 web hits)

LDLR W66Ginsufficiently evaluated pathogenicunknown

(82 web hits)

LDLR G75Dinsufficiently evaluated not reviewed, f=0.062unknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19025-1100-36-ASM (hom)
var-GS19020-1100-36-ASM
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS18502-1100-36-ASM
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS00253-DNA_D01_200_37
var-GS19670-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
LDLR C88Sinsufficiently evaluated pathogenicunknown

(4 web hits)

LDLR D154Ninsufficiently evaluated pathogenicunknown

(18 web hits)

LDLR S156Linsufficiently evaluated pathogenicunknown

(43 web hits)

LDLR C163Yinsufficiently evaluated pathogenicunknown

(43 web hits)

LDLR Y167Xinsufficiently evaluated pathogenicunknown

(8 web hits)

LDLR G186Ginsufficiently evaluated pathogenicunknown

(4 web hits)

LDLR D206Einsufficiently evaluated pathogenicunknown

(43 web hits)

LDLR E207Kinsufficiently evaluated pathogenicunknown

(88 web hits)

LDLR C210Xinsufficiently evaluated pathogenicunknown

(9 web hits)

LDLR A232Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS19238-1100-36-ASM
LDLR C240Finsufficiently evaluated pathogenicunknown

(33 web hits)

LDLR D283Ninsufficiently evaluated pathogenicunknown

(5 web hits)

LDLR G314Rinsufficiently evaluated not reviewed, f=0.008unknown var-GS21767-1100-36-ASM
LDLR G324Sinsufficiently evaluated not reviewed, f=0.005unknown var-GS18502-1100-36-ASM
LDLR L380Hinsufficiently evaluated pathogenicunknown

(20 web hits)

LDLR R385Rinsufficiently evaluated pathogenicunknown

(20 web hits)

LDLR A391Tinsufficiently evaluated none, f=0.090unknown

(16 web hits)

PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS19700-1100-36-ASM (hom)
var-GS18504-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS19701-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS20502-1100-36-ASM
var-GS19129-1100-36-ASM (hom)
var-GS19240-1100-36-ASM
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM
CGI sample GS01175-DNA_B04 from PGP sample 88590671
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS06985-1100-36-ASM
LDLR V408Minsufficiently evaluated pathogenicunknown

(85 web hits)

LDLR A410Tinsufficiently evaluated pathogenicunknown

(25 web hits)

LDLR D412Hinsufficiently evaluated pathogenicunknown

(13 web hits)

LDLR V502Minsufficiently evaluated pathogenicunknown

(26 web hits)

LDLR G525Dinsufficiently evaluated pathogenicunknown

(4 web hits)

LDLR G528Dinsufficiently evaluated pathogenicunknown

(30 web hits)

LDLR G544Vinsufficiently evaluated pathogenicunknown

(12 web hits)

LDLR T548Iinsufficiently evaluated not reviewedunknown
LDLR T558Iinsufficiently evaluated not reviewedunknown
LDLR T605Iinsufficiently evaluated not reviewedunknown
LDLR I623Vinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_A04 from PGP sample 08188426
LDLR C646Yinsufficiently evaluated pathogenicunknown

(67 web hits)

LDLR V649Iinsufficiently evaluated not reviewedunknown
LDLR V659Iinsufficiently evaluated not reviewedunknown
LDLR C660Xinsufficiently evaluated pathogenicunknown

(63 web hits)

LDLR P664Linsufficiently evaluated pathogenicunknown

(97 web hits)

LDLR T685Iinsufficiently evaluated not reviewedunknown
LDLR S691Linsufficiently evaluated not reviewed, f=0.008unknown var-GS19025-1100-36-ASM
LDLR V706Iinsufficiently evaluated not reviewedunknown
LDLR T726Iinsufficiently evaluated none, f=0.006unknown

(4 web hits)

hu3215A7 build 36 substitution variants
hu232307 build 36 substitution variants
CGI sample GS00253-DNA_A01_200_37
LDLR A771Vinsufficiently evaluated not reviewed, f=0.000unknown
LDLR V786Iinsufficiently evaluated not reviewedunknown
LDLR W792Xinsufficiently evaluated pathogenicunknown

(6 web hits)

LDLR Y807Cinsufficiently evaluated pathogenicunknown

(45 web hits)

LDLR G823Dinsufficiently evaluated pathogenicunknown

(9 web hits)

LDLR V827Ilikely pathogenic, f=0.000dominant

LabCorps has reported this as a “likely pathogenic” in ClinVar: http://www.ncbi.nlm.nih.gov/clinvar/RCV000030135/ Other missense variants in this gene are reported to cause familial hypercholesterolemia in a dominant manner. However, according to ExAC allele frequency data this variant is carried by 1 in 400 with European descent — roughly equal to the prevalence of the disease. This seems to contradict the reported effect: if this variant were a significant cause of the disease, we would expect it to account for a large fraction of cases and be well-established in literature — but this does not appear to be the case.

(1 web hit)

CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_F01_200_37
LDLRAD1 A37Dinsufficiently evaluated not reviewedunknown
LDLRAD1 S42Finsufficiently evaluated none, f=0.011unknown var-GS18504-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS18517-1100-36-ASM
LDLRAD2 N134Tinsufficiently evaluated none, f=0.638unknown CGI sample GS00253-DNA_E01_200_37 (hom)
CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
var-GS07357-1100-36-ASM (hom)
hu232307 build 36 substitution variants (hom)
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM (hom)
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM (hom)
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS19648-1100-36-ASM (hom)
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS00253-DNA_F01_200_37 (hom)
var-GS20502-1100-36-ASM (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_D01_200_37 (hom)
var-GS19240-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
var-GS18526-1100-36-ASM
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37 (hom)
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 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM
LDLRAD2 D201Ninsufficiently evaluated not reviewed, f=0.001unknown var-GS19834-1100-36-ASM
LDLRAD3 S13Tinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_D03 from PGP sample 27486199
LDLRAD3 P326Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS18537-1100-36-ASM
LDLRAD3 T342Sinsufficiently evaluated not reviewed, f=0.011unknown var-GS19238-1100-36-ASM
LDLRAP1 R9Ginsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01669-DNA_B05 from PGP sample 86486261
LDLRAP1 E44Ginsufficiently evaluated noneunknown

(2 web hits)

LDLRAP1 T77Iinsufficiently evaluated not reviewed, f=0.008unknown var-GS19025-1100-36-ASM
LDLRAP1 S202Pinsufficiently evaluated none, f=0.469unknown

(3 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
var-GS19025-1100-36-ASM
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
CGI sample GS000005532 (hom)
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
CGI sample GS00253-DNA_D01_200_37 (hom)
CGI sample GS00253-DNA_C01_200_37 (hom)
var-GS18526-1100-36-ASM
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM
var-GS19238-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM (hom)
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 GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
LDLRAP1 T218Minsufficiently evaluated not reviewed, f=0.008unknown var-GS19239-1100-36-ASM
LDLRAP1 R238Winsufficiently evaluated pathogenic, f=0.035recessive

This variant was seen in a homozygous fashion in siblings with familial hypercholesterolemia who also had a frameshift mutation in the same gene. Hubacek et al. studied the frequency of this variant in high and low cholesterol groups and conclude that this variant has little effect, if any, on cholesterol levels.

CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01173-DNA_B07 from PGP sample 61499538
LDLRAP1 S243Tinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_A01_200_37
LDLRAP1 A284Tinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B04 from PGP sample 88590671
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Total results: 64

Gene search

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