GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
COL5A1 P21Sinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
COL5A1 N50Tinsufficiently evaluated noneunknown
COL5A1 R65Qinsufficiently evaluated not reviewed, f=0.002unknown var-GS21767-1100-36-ASM
COL5A1 I168Vinsufficiently evaluated not reviewedunknown
COL5A1 D192Ninsufficiently evaluated not reviewed, f=0.015unknown CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS20502-1100-36-ASM
COL5A1 E284Kinsufficiently evaluated noneunknown
COL5A1 G530Sinsufficiently evaluated not reviewed, f=0.029unknown CGI sample GS00253-DNA_F01_200_37
CGI sample GS01173-DNA_A07 from PGP sample 96240009
COL5A1 Q547Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B07 from PGP sample 61499538
COL5A1 R792Xinsufficiently evaluated pathogenicunknown

(5 web hits)

COL5A1 G856Shiftinsufficiently evaluated not reviewedunknown

While this specific variant has not been studied and in fact seems not to appear in any available data, numerous other variants in COL5A1 are associated with Ehlers-Danlos syndrome phenotypes, some of which are thought to be causative.

COL5A1 N951Sinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_A07 from PGP sample 96240009
COL5A1 C1181Sinsufficiently evaluated pathogenicunknown
COL5A1 P1379Sinsufficiently evaluated not reviewed, f=0.007unknown CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_A02_200_37
COL5A1 G1489Einsufficiently evaluated pathogenicunknown

(29 web hits)

COL5A1 A1636Tinsufficiently evaluated not reviewed, f=0.001unknown
COL5A1 T1757Minsufficiently evaluated not reviewed, f=0.001unknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS18940-1100-36-ASM
COL5A1 D1803Ninsufficiently evaluated not reviewed, f=0.004unknown var-GS19017-1100-36-ASM
COL5A1 F1817Linsufficiently evaluated not reviewedunknown
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Total results: 18

Gene search

"GENE" or "GENE A123C":

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