GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
NPC1 N86Tinsufficiently evaluated noneunknown
NPC1 C113Rinsufficiently evaluated pathogenicunknown

(15 web hits)

NPC1 C177Yinsufficiently evaluated pathogenicunknown

(29 web hits)

NPC1 D182Ninsufficiently evaluated not reviewed, f=0.008unknown var-GS18504-1100-36-ASM
NPC1 A183Tinsufficiently evaluated not reviewed, f=0.000unknown
NPC1 H215Runcertain protective, f=0.296other

This variant is associated with a reduced risk of obesity, with an additive effect of -0.084 BMI per allele (an average of 0.54 pounds less, per allele, in a 5’6” individual).

(52 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
var-GS07357-1100-36-ASM
hu232307 build 36 substitution variants
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS00253-DNA_G01_200_37
var-GS19701-1100-36-ASM
var-GS10851-1100-36-ASM (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM
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 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_C01_200_37 (hom)
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS19669-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS06985-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
NPC1 N222Sinsufficiently evaluated not reviewed, f=0.004unknown var-GS19649-1100-36-ASM
NPC1 P237Sinsufficiently evaluated not reviewed, f=0.012unknown CGI sample GS000006909
NPC1 V378Ainsufficiently evaluated pathogenicunknown

(8 web hits)

NPC1 R411Qinsufficiently evaluated not reviewed, f=0.002unknown var-GS19834-1100-36-ASM
NPC1 P434Sinsufficiently evaluated none, f=0.015unknown var-GS19703-1100-36-ASM
var-GS19701-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS18517-1100-36-ASM
NPC1 T511Minsufficiently evaluated none, f=0.003unknown

(2 web hits)

var-GS18502-1100-36-ASM
NPC1 V624Iinsufficiently evaluated not reviewed, f=0.008unknown var-GS18940-1100-36-ASM
NPC1 M642Iinsufficiently evaluated not reviewed, f=0.738unknown

(1 web hit)

CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19025-1100-36-ASM (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
hu34D5B9 exome
hu3215A7 build 36 substitution variants (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM (hom)
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
CGI sample GS000005532
hu232307 build 36 substitution variants (hom)
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
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
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19239-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
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 (hom)
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM (hom)
CGI sample GS00253-DNA_C01_200_37 (hom)
var-GS18526-1100-36-ASM
hu728FFF build 36 substitution variants (hom)
var-GS18505-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_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 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
var-GS19669-1100-36-ASM (hom)
var-GS20509-1100-36-ASM (hom)
var-GS18956-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
NPC1 R646Hinsufficiently evaluated not reviewed, f=0.000unknown
NPC1 G749Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS19735-1100-36-ASM
NPC1 V810Finsufficiently evaluated not reviewed, f=0.000unknown var-GS19648-1100-36-ASM
NPC1 I858Vinsufficiently evaluated not reviewed, f=0.445unknown

(47 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
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)
var-GS19020-1100-36-ASM (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS18501-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909
var-GS07357-1100-36-ASM
hu232307 build 36 substitution variants
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS00253-DNA_G01_200_37
var-GS19701-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS10851-1100-36-ASM (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM
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
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM
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 (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37 (hom)
var-GS18526-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM
var-GS19670-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37
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 GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM (hom)
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
NPC1 V889Minsufficiently evaluated pathogenicunknown

(7 web hits)

NPC1 Q928Pinsufficiently evaluated pathogenicunknown

(2 web hits)

NPC1 N931Kinsufficiently evaluated not reviewedunknown
NPC1 V950Minsufficiently evaluated pathogenicunknown

(22 web hits)

NPC1 R958Qinsufficiently evaluated pathogenic, f=0.000unknown

(12 web hits)

NPC1 R978Cinsufficiently evaluated pathogenicunknown

(21 web hits)

NPC1 G992Rinsufficiently evaluated pathogenicunknown

(28 web hits)

NPC1 G992Winsufficiently evaluated pathogenic, f=0.000unknown

(58 web hits)

NPC1 P1007Ainsufficiently evaluated pathogenic, f=0.000unknown

(98 web hits)

NPC1 A1035Vinsufficiently evaluated pathogenicunknown

(20 web hits)

NPC1 T1036Minsufficiently evaluated pathogenicunknown

(8 web hits)

NPC1 I1061Tinsufficiently evaluated pathogenic, f=0.000unknown

(315 web hits)

NPC1 Y1088Cinsufficiently evaluated pathogenicunknown

(4 web hits)

NPC1 V1115Finsufficiently evaluated not reviewed, f=0.003unknown var-GS19700-1100-36-ASM
NPC1 W1122Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS01173-DNA_A07 from PGP sample 96240009
NPC1 S1123Cinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_A07 from PGP sample 96240009
NPC1 N1156Sinsufficiently evaluated pathogenicunknown

(23 web hits)

NPC1 M1179Vinsufficiently evaluated not reviewed, f=0.004unknown var-GS18501-1100-36-ASM
NPC1 A1187Vinsufficiently evaluated noneunknown

(3 web hits)

NPC1 L1213Finsufficiently evaluated pathogenicunknown

(2 web hits)

NPC1 R1266Qinsufficiently evaluated none, f=0.099unknown

(14 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
var-GS19020-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS19240-1100-36-ASM
var-GS18526-1100-36-ASM
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191
var-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS18956-1100-36-ASM
NPC1L1 V55Linsufficiently evaluated pathogenicunknown
NPC1L1 T61Minsufficiently evaluated not reviewed, f=0.002unknown var-GS19834-1100-36-ASM
NPC1L1 D273Yinsufficiently evaluated not reviewed, f=0.000unknown var-GS19670-1100-36-ASM
NPC1L1 A310Sinsufficiently evaluated not reviewed, f=0.019unknown var-GS19017-1100-36-ASM
var-GS19238-1100-36-ASM
NPC1L1 D312Hinsufficiently evaluated not reviewed, f=0.001unknown var-GS19704-1100-36-ASM
NPC1L1 T323Pinsufficiently evaluated not reviewedunknown
NPC1L1 A368Vinsufficiently evaluated not reviewed, f=0.008unknown var-GS18537-1100-36-ASM
NPC1L1 N387Sinsufficiently evaluated none, f=0.041unknown var-GS19700-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS18502-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
var-GS18517-1100-36-ASM
NPC1L1 D517Ninsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS00253-DNA_D01_200_37
NPC1L1 S868Ninsufficiently evaluated noneunknown
NPC1L1 P974Sinsufficiently evaluated not reviewed, f=0.004unknown var-GS19703-1100-36-ASM
NPC1L1 D1087Hinsufficiently evaluated not reviewedunknown
NPC1L1 R1094Qinsufficiently evaluated not reviewed, f=0.007unknown var-GS18504-1100-36-ASM
NPC1L1 D1114Hinsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS00253-DNA_B02_200_37
NPC1L1 I1233Ninsufficiently evaluated pharmacogenetic, f=0.010unknown

Wang et al. find this variant along with another nonsynonymous variant compound heterozygously in a hyperlipidemic patient that did not respond to ezetimibe.

CGI sample GS01669-DNA_F02 from PGP sample 40767107
NPC1L1 A1290Vinsufficiently evaluated not reviewedunknown
NPC1L1 E1308Kinsufficiently evaluated not reviewed, f=0.004unknown var-GS19834-1100-36-ASM
NPC1L1 A1317Vinsufficiently evaluated not reviewedunknown
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Total results: 57

Gene search

"GENE" or "GENE A123C":

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