GET-Evidence: Search

VariantImpactInheritance patternSummaryGenomes
ELN Y150Xinsufficiently evaluated pathogenicunknown

(5 web hits)

ELN V165Linsufficiently evaluated not reviewed, f=0.006unknown var-GS19701-1100-36-ASM
ELN K176Xinsufficiently evaluated pathogenicunknown

(5 web hits)

ELN Q253Shiftpathogenic, f=0.017dominant

This variant is a single base deletion in exon 15 of ELN (elastin) which predicts a frameshift starting at amino acid 253. Other severe variants in this gene have been reported to cause a congenital heart defect (supravalvular aortic stenosis) and Cutis Laxa; based on these reports, this variant would be predicted to have the same effect.

ELN G412Sinsufficiently evaluated noneunknown
ELN G422Sinsufficiently evaluated none, f=0.332unknown

(5 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469
PGP13 (hu3A8D13) build 37, from CGI var (software ver
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18558-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
hu232307 build 36 substitution variants
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS01669-DNA_B05 from PGP sample 86486261
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 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491
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
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
ELN G427Sinsufficiently evaluated noneunknown

(1 web hit)

ELN Q442Xinsufficiently evaluated pathogenicunknown

(6 web hits)

ELN G552Rinsufficiently evaluated noneunknown
ELN G562Rinsufficiently evaluated noneunknown
ELN G567Rinsufficiently evaluated noneunknown
ELN R570Xinsufficiently evaluated pathogenicunknown

(4 web hits)

ELN G581Runcertain benign, f=0.073unknown

Probably a benign SNP, not rare (4.8% allele frequency in GET-Evidence data).

(2 web hits)

hu34D5B9 exome
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS000005532
CGI sample GS00253-DNA_G01_200_37
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
ELN G586Rinsufficiently evaluated noneunknown
ELN G610Sinsufficiently evaluated not reviewed, f=0.003unknown var-GS19020-1100-36-ASM
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Total results: 15

Gene search

"GENE" or "GENE A123C":

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