GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
COL7A1 R109Xinsufficiently evaluated pathogenicunknown

(2 web hits)

COL7A1 K142Rinsufficiently evaluated pathogenic, f=0.000unknown

(2 web hits)

COL7A1 R213Qinsufficiently evaluated none, f=0.000unknown

(3 web hits)

COL7A1 P268Sinsufficiently evaluated none, f=0.003unknown CGI sample GS01669-DNA_B03 from PGP sample 14427241
COL7A1 Y311Xinsufficiently evaluated pathogenicunknown

(1 web hit)

COL7A1 R445Qinsufficiently evaluated not reviewedunknown
COL7A1 R538Hinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_H01 from PGP sample 94797469
COL7A1 S543Ninsufficiently evaluated none, f=0.004unknown var-GS18517-1100-36-ASM
COL7A1 P595Linsufficiently evaluated none, f=0.102unknown

(3 web hits)

CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS01173-DNA_G02 from PGP sample 67180598
var-GS07357-1100-36-ASM
var-GS10851-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS19669-1100-36-ASM
COL7A1 V791Iinsufficiently evaluated not reviewed, f=0.000unknown
COL7A1 T952Ginsufficiently evaluated not reviewed, f=0.008unknown var-GS19703-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
COL7A1 A1040Tinsufficiently evaluated not reviewedunknown
COL7A1 R1120Kinsufficiently evaluated none, f=0.003unknown CGI sample GS01669-DNA_B03 from PGP sample 14427241
COL7A1 A1150Sinsufficiently evaluated not reviewedunknown
COL7A1 P1277Luncertain benign, f=0.041unknown

Polymorphism, presumed benign.

(1 web hit)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS000006909
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_C01_200_37
CGI sample GS00253-DNA_H01_200_37
COL7A1 G1347Rinsufficiently evaluated pathogenicunknown

(4 web hits)

COL7A1 R1379Cinsufficiently evaluated not reviewedunknown CGI sample GS000006909
COL7A1 G1412Einsufficiently evaluated not reviewed, f=0.008unknown var-GS10851-1100-36-ASM
COL7A1 V1438Iinsufficiently evaluated not reviewed, f=0.001unknown var-GS19020-1100-36-ASM
COL7A1 G1519Dinsufficiently evaluated pathogenicunknown

(10 web hits)

COL7A1 R1538Hinsufficiently evaluated none, f=0.005unknown var-GS18517-1100-36-ASM
COL7A1 G1546Rinsufficiently evaluated none, f=0.000unknown

(3 web hits)

var-GS19834-1100-36-ASM
COL7A1 G1595Rinsufficiently evaluated pathogenicunknown

(2 web hits)

COL7A1 R1630Xinsufficiently evaluated pathogenicunknown

(3 web hits)

COL7A1 P1699Linsufficiently evaluated pathogenicunknown

(5 web hits)

COL7A1 R1724Hinsufficiently evaluated not reviewed, f=0.000unknown var-GS18501-1100-36-ASM
COL7A1 G1815Rinsufficiently evaluated pathogenicunknown

(6 web hits)

COL7A1 G2003Rinsufficiently evaluated pathogenicunknown

(2 web hits)

COL7A1 G2006Dinsufficiently evaluated pathogenicunknown

(10 web hits)

COL7A1 G2015Einsufficiently evaluated pathogenicunknown

(10 web hits)

COL7A1 G2031Sinsufficiently evaluated pathogenicunknown

(23 web hits)

COL7A1 G2034Rinsufficiently evaluated pathogenicunknown

(16 web hits)

COL7A1 G2037Einsufficiently evaluated pathogenicunknown

(44 web hits)

COL7A1 G2040Sinsufficiently evaluated pathogenicunknown

(6 web hits)

COL7A1 G2043Rinsufficiently evaluated pathogenicunknown

(89 web hits)

COL7A1 R2063Winsufficiently evaluated pathogenicunknown

(14 web hits)

COL7A1 R2069Cinsufficiently evaluated pathogenic, f=0.000unknown

(4 web hits)

COL7A1 G2073Vinsufficiently evaluated pathogenicunknown

(1 web hit)

COL7A1 G2076Dinsufficiently evaluated pathogenicunknown

(11 web hits)

COL7A1 P2089Linsufficiently evaluated not reviewed, f=0.000unknown
COL7A1 N2122Sinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
COL7A1 P2231Linsufficiently evaluated noneunknown

(1 web hit)

COL7A1 G2242Rinsufficiently evaluated pathogenicunknown

(16 web hits)

COL7A1 G2251Einsufficiently evaluated pathogenicunknown

(15 web hits)

COL7A1 G2287Rinsufficiently evaluated pathogenicunknown

(3 web hits)

COL7A1 P2364Tinsufficiently evaluated not reviewedunknown
COL7A1 P2429Linsufficiently evaluated not reviewed, f=0.004unknown var-GS18517-1100-36-ASM
COL7A1 R2471Xinsufficiently evaluated pathogenicunknown

(3 web hits)

COL7A1 R2480Winsufficiently evaluated not reviewedunknown
COL7A1 G2623Cinsufficiently evaluated pathogenicunknown

(20 web hits)

COL7A1 G2653Rinsufficiently evaluated pathogenicunknown

(3 web hits)

COL7A1 G2662Einsufficiently evaluated noneunknown

(1 web hit)

COL7A1 G2749Rinsufficiently evaluated pathogenic, f=0.000unknown

(3 web hits)

COL7A1 R2791Winsufficiently evaluated not reviewed, f=0.002unknown CGI sample GS000006909
COL7A1 M2798Kinsufficiently evaluated pathogenicunknown

(4 web hits)

COL7A1 R2835Hinsufficiently evaluated not reviewed, f=0.001unknown CGI sample GS000005532
COL7A1 P2847Shiftpathogenicrecessive

This frameshift mutation is predicted to cause dystrophic epidermolysis bullosa in a recessive manner. Although there are no known reports of this variant, other disruptive variants in this gene cause this disease. Notably, this variant is nearer to the end than most reports (codon 2,847 out of 2,944 total), this may reduce the severity of its impact on protein function.

CGI sample GS000005532
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Total results: 57

Gene search

"GENE" or "GENE A123C":

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