GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ANG Q12Linsufficiently evaluated pathogenicunknown

(22 web hits)

ANG K17Einsufficiently evaluated pathogenicunknown

(31 web hits)

ANG K17Iinsufficiently evaluated pathogenicunknown

(120 web hits)

ANG S28Ninsufficiently evaluated pathogenicunknown

(23 web hits)

ANG R31Kinsufficiently evaluated pathogenicunknown

(36 web hits)

ANG C39Winsufficiently evaluated pathogenicunknown

(34 web hits)

ANG K40Iinsufficiently evaluated pathogenicunknown

(108 web hits)

ANG K41Iuncertain benignunknown

Reported to cause familial amyotrophic lateral sclerosis (ALS) in a dominant manner, as recorded in ClinVar by OMIM. This assertion comes from a couple publications, including van Es 2009 (PMID: 19153377) and Millecamps et al (PMID: 20577002). Van Es et al. reported a large family with disease segregating with this variant. Millecamps et al 2010, according to OMIM, saw this variant in 2 out of 162 families. However, ExAC reports that this variant has an allele frequency of 0.165% in European ancestry. Observations by Millecamps et al have no statistically significant enrichment, and van Es et al may have merely observed linkage to a different pathogenic variant on the same chromosome. The incidence of familial ALS is around 1 in 10,000, according to ExAC data carriers are more than 10x as common as the disease itself: 1 in 300 with European ancestry carry this variant.

ANG I46Vinsufficiently evaluated pathogenicunknown

(37 web hits)

ANG K84Einsufficiently evaluated not reviewed, f=0.004unknown

(9 web hits)

var-GS19017-1100-36-ASM
ANG P112Linsufficiently evaluated pathogenicunknown

(20 web hits)

ANG V113Iinsufficiently evaluated pathogenicunknown

(2 web hits)

ANGEL1 F24Sinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
ANGEL1 G141Winsufficiently evaluated none, f=0.060unknown var-GS18501-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_A01_200_37
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01173-DNA_B02 from PGP sample 94378523
ANGEL1 L219Minsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
ANGEL1 M283Iinsufficiently evaluated noneunknown
ANGEL1 V383Linsufficiently evaluated unknown, f=0.042unknown CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu3215A7 build 36 substitution variants
hu232307 build 36 substitution variants (hom)
var-GS10851-1100-36-ASM
CGI sample GS01669-DNA_H05 from PGP sample 10971581
hu728FFF build 36 substitution variants
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS06985-1100-36-ASM
ANGEL1 D510Ginsufficiently evaluated not reviewed, f=0.008unknown var-GS19703-1100-36-ASM
ANGEL1 F515Cinsufficiently evaluated none, f=0.107unknown CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
var-GS19701-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
var-GS18505-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS18956-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
ANGEL1 R585Cinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
ANGEL1 R587Hinsufficiently evaluated not reviewed, f=0.003unknown var-GS18504-1100-36-ASM
ANGEL2 R44Sinsufficiently evaluated none, f=0.006unknown

(1 web hit)

var-GS18517-1100-36-ASM
ANGEL2 N77Hinsufficiently evaluated none, f=0.008unknown var-GS18956-1100-36-ASM
ANGEL2 P97Sinsufficiently evaluated none, f=0.017unknown

(8 web hits)

ANGEL2 Q431Kinsufficiently evaluated not reviewed, f=0.002unknown var-GS20509-1100-36-ASM
ANGPT1 P76Linsufficiently evaluated not reviewedunknown
ANGPT1 L247Pinsufficiently evaluated none, f=0.000unknown
ANGPT1 T257Kinsufficiently evaluated not reviewed, f=0.010unknown var-GS12004-1100-36-ASM
ANGPT2 V235Ainsufficiently evaluated not reviewed, f=0.008unknown var-GS18537-1100-36-ASM
ANGPT2 T260Sinsufficiently evaluated not reviewed, f=0.004unknown var-GS19026-1100-36-ASM
ANGPT2 V281Iinsufficiently evaluated noneunknown

(3 web hits)

ANGPT2 A311Vinsufficiently evaluated not reviewed, f=0.003unknown CGI sample GS000006909
CGI sample GS01175-DNA_F02 from PGP sample 95788191
ANGPT2 V332Iinsufficiently evaluated noneunknown

(3 web hits)

ANGPT2 V333Iinsufficiently evaluated none, f=0.006unknown

(3 web hits)

var-GS19703-1100-36-ASM
var-GS19026-1100-36-ASM
ANGPT4 Q95Rinsufficiently evaluated not reviewed, f=0.019unknown var-GS18502-1100-36-ASM
ANGPT4 T110Minsufficiently evaluated not reviewed, f=0.000unknown var-GS18558-1100-36-ASM
ANGPT4 R147Hinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
ANGPT4 M152Vinsufficiently evaluated none, f=0.017unknown var-GS18501-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19129-1100-36-ASM
ANGPT4 L181Pinsufficiently evaluated not reviewed, f=0.008unknown var-GS19701-1100-36-ASM
ANGPT4 P315Linsufficiently evaluated none, f=0.002unknown
ANGPT4 S324Ninsufficiently evaluated not reviewed, f=0.000unknown var-GS21767-1100-36-ASM
ANGPT4 R344Winsufficiently evaluated not reviewed, f=0.008unknown var-GS19026-1100-36-ASM
ANGPT4 E395Kinsufficiently evaluated not reviewed, f=0.013unknown

(6 web hits)

CGI sample GS00253-DNA_A02_200_37
ANGPTL1 P267Linsufficiently evaluated not reviewed, f=0.001unknown var-GS19239-1100-36-ASM
ANGPTL2 E37Dinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_A04 from PGP sample 08188426
ANGPTL2 L170Minsufficiently evaluated not reviewed, f=0.008unknown
ANGPTL2 D269Ninsufficiently evaluated not reviewed, f=0.008unknown var-GS19017-1100-36-ASM
ANGPTL3 K176Ninsufficiently evaluated none, f=0.008unknown var-GS18956-1100-36-ASM
ANGPTL3 I199Tinsufficiently evaluated not reviewed, f=0.000unknown
ANGPTL3 M259Tinsufficiently evaluated not reviewed, f=0.016unknown var-GS19025-1100-36-ASM
var-GS18504-1100-36-ASM
ANGPTL4 E40Kinsufficiently evaluated pathogenic, f=0.011dominant

This dominant protective variant reduces the mean plasma triglyceride level by 15% in heterozygous carriers.

CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS01669-DNA_B05 from PGP sample 86486261
ANGPTL4 V123Minsufficiently evaluated none, f=0.016unknown var-GS18555-1100-36-ASM
var-GS18947-1100-36-ASM
ANGPTL4 E190Qinsufficiently evaluated not reviewed, f=0.006unknown var-GS18505-1100-36-ASM
ANGPTL4 T228Minsufficiently evaluated noneunknown hu728FFF build 36 substitution variants
ANGPTL4 R240Qinsufficiently evaluated not reviewedunknown
ANGPTL4 T266Minsufficiently evaluated none, f=0.290unknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18501-1100-36-ASM
var-GS18558-1100-36-ASM
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
CGI sample GS000005532
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS19649-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS20502-1100-36-ASM (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
hu728FFF build 36 substitution variants
var-GS18505-1100-36-ASM (hom)
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
ANGPTL4 R278Qinsufficiently evaluated not reviewed, f=0.019unknown var-GS21767-1100-36-ASM
var-GS19834-1100-36-ASM
ANGPTL5 R192Winsufficiently evaluated none, f=0.994unknown CGI sample GS00253-DNA_E01_200_37
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 (hom)
var-GS19025-1100-36-ASM (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
hu34D5B9 exome (hom)
hu3215A7 build 36 substitution variants (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
var-GS18942-1100-36-ASM (hom)
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-GS19700-1100-36-ASM (hom)
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 (hom)
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
var-GS07357-1100-36-ASM (hom)
CGI sample GS000005532 (hom)
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants (hom)
var-GS12004-1100-36-ASM (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS00253-DNA_G01_200_37 (hom)
var-GS19701-1100-36-ASM (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
var-GS18555-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS19648-1100-36-ASM (hom)
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS00253-DNA_B01_200_37 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
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 (hom)
var-GS19129-1100-36-ASM (hom)
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 (hom)
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM (hom)
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 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
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 (hom)
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM (hom)
var-GS18517-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
ANGPTL5 T268Minsufficiently evaluated not reviewed, f=0.030unknown CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS19026-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
ANGPTL5 S303Pinsufficiently evaluated not reviewed, f=0.002unknown
ANGPTL5 C324Yinsufficiently evaluated not reviewed, f=0.008unknown var-GS18526-1100-36-ASM
ANGPTL6 S284Xinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_G02 from PGP sample 67180598
ANGPTL6 H372Qinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B04 from PGP sample 88590671
ANGPTL6 R439Qinsufficiently evaluated not reviewed, f=0.008unknown var-GS06994-1100-36-ASM
ANGPTL6 R452Cinsufficiently evaluated not reviewed, f=0.008unknown var-GS19649-1100-36-ASM
ANGPTL7 E51Dinsufficiently evaluated none, f=0.025unknown var-GS19649-1100-36-ASM
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS18517-1100-36-ASM
ANGPTL7 Q175Hinsufficiently evaluated none, f=0.005unknown

(2 web hits)

ANGPTL7 T299Kinsufficiently evaluated not reviewed, f=0.008unknown var-GS19648-1100-36-ASM
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Total results: 68

Gene search

"GENE" or "GENE A123C":

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