GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
COL5A2 M1Vinsufficiently evaluated not reviewed, f=0.008unknown var-GS19017-1100-36-ASM
COL5A2 M361Linsufficiently evaluated none, f=0.022unknown CGI sample GS01175-DNA_H01 from PGP sample 94797469
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
CGI sample GS00253-DNA_B01_200_37
COL5A2 P460Suncertain benign, f=0.040unknown

Tentatively benign. Although predicted to be damaging by Polyphen 2, this variant is seen in 2 out of 62 PGP & public genomes. OMIM lists other more disruptive variants (frameshift & nonsense) as reported to cause Ehlers-Danlos syndrome when homozygous.

CGI sample GS01175-DNA_G03 from PGP sample 92527586
hu34D5B9 exome
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS00253-DNA_A01_200_37
var-GS06994-1100-36-ASM
COL5A2 P467Linsufficiently evaluated not reviewed, f=0.012unknown var-GS19238-1100-36-ASM
COL5A2 V512Ainsufficiently evaluated none, f=0.019unknown CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS01669-DNA_D02 from PGP sample 27316983
COL5A2 G591Vinsufficiently evaluated noneunknown
COL5A2 G831Ainsufficiently evaluated not reviewed, f=0.000unknown var-GS19026-1100-36-ASM
COL5A2 P833Linsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS01669-DNA_D02 from PGP sample 27316983
COL5A2 G934Rinsufficiently evaluated pathogenicunknown

(18 web hits)

COL5A2 P983Sinsufficiently evaluated not reviewed, f=0.000unknown var-GS18508-1100-36-ASM
COL5A2 P1033Linsufficiently evaluated none, f=0.008unknown var-GS18956-1100-36-ASM
COL5A2 G1041Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS19017-1100-36-ASM
COL5A2 R1106Winsufficiently evaluated not reviewed, f=0.001unknown var-GS19017-1100-36-ASM
COL5A2 T1230Rinsufficiently evaluated not reviewed, f=0.005unknown CGI sample GS00253-DNA_G01_200_37
var-GS06985-1100-36-ASM
Page: 1 2
Total results: 14

Gene search

"GENE" or "GENE A123C":

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