GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
COL2A1 R9Xinsufficiently evaluated pathogenicunknown

(4 web hits)

COL2A1 T9Sinsufficiently evaluated not reviewed, f=0.791unknown

(3 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
hu34D5B9 exome (hom)
hu3215A7 build 36 substitution variants
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM (hom)
hu232307 build 36 substitution variants (hom)
var-GS12004-1100-36-ASM (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM (hom)
var-GS19017-1100-36-ASM (hom)
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS19129-1100-36-ASM (hom)
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191
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-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM (hom)
var-GS18956-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
COL2A1 W47Xinsufficiently evaluated pathogenicunknown

(4 web hits)

COL2A1 C57Yinsufficiently evaluated pathogenicunknown

(1 web hit)

COL2A1 C64Xinsufficiently evaluated pathogenicunknown

(2 web hits)

COL2A1 G67Dinsufficiently evaluated pathogenicunknown

(3 web hits)

COL2A1 E73Dinsufficiently evaluated not reviewedunknown
COL2A1 R75Cinsufficiently evaluated pathogenicunknown

(32 web hits)

COL2A1 G103Dinsufficiently evaluated pathogenicunknown

(21 web hits)

COL2A1 G118Rinsufficiently evaluated pathogenicunknown

(9 web hits)

COL2A1 E142Dinsufficiently evaluated not reviewed, f=0.037unknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01669-DNA_F02 from PGP sample 40767107
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS20502-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
COL2A1 G154Rinsufficiently evaluated pathogenicunknown

(6 web hits)

COL2A1 K239Einsufficiently evaluated not reviewedunknown
COL2A1 G292Vinsufficiently evaluated pathogenicunknown

(3 web hits)

COL2A1 G304Cinsufficiently evaluated pathogenicunknown

(2 web hits)

COL2A1 K308Einsufficiently evaluated not reviewedunknown
COL2A1 G316Dinsufficiently evaluated pathogenicunknown

(6 web hits)

COL2A1 A337Vinsufficiently evaluated noneunknown

(1 web hit)

COL2A1 G346Vinsufficiently evaluated pathogenicunknown

(1 web hit)

COL2A1 R365Cinsufficiently evaluated pathogenicunknown

(43 web hits)

COL2A1 A406Vinsufficiently evaluated noneunknown
COL2A1 R453Xinsufficiently evaluated pathogenicunknown

(8 web hits)

COL2A1 L467Finsufficiently evaluated pathogenicunknown

(41 web hits)

COL2A1 P478Linsufficiently evaluated not reviewed, f=0.001unknown var-GS18504-1100-36-ASM
COL2A1 R519Cinsufficiently evaluated pathogenicunknown

(38 web hits)

COL2A1 G574Sinsufficiently evaluated pathogenicunknown

(3 web hits)

COL2A1 G691Rinsufficiently evaluated pathogenicunknown

(4 web hits)

COL2A1 R704Cinsufficiently evaluated pathogenicunknown

(19 web hits)

COL2A1 G709Cinsufficiently evaluated pathogenicunknown

(2 web hits)

COL2A1 G717Sinsufficiently evaluated pathogenicunknown

(1 web hit)

COL2A1 R732Xinsufficiently evaluated pathogenicunknown

(4 web hits)

COL2A1 G769Sinsufficiently evaluated pathogenicunknown

(2 web hits)

COL2A1 R789Cinsufficiently evaluated pathogenicunknown

(37 web hits)

COL2A1 R792Ginsufficiently evaluated pathogenicunknown

(4 web hits)

COL2A1 P846Xinsufficiently evaluated pathogenicunknown
COL2A1 G853Einsufficiently evaluated pathogenicunknown

(6 web hits)

COL2A1 R932Qinsufficiently evaluated not reviewed, f=0.008unknown var-GS18504-1100-36-ASM
COL2A1 G943Sinsufficiently evaluated pathogenicunknown

(12 web hits)

COL2A1 G973Rinsufficiently evaluated pathogenicunknown

(20 web hits)

COL2A1 G997Sinsufficiently evaluated pathogenicunknown

(2 web hits)

COL2A1 G1105Dinsufficiently evaluated pathogenicunknown

(1 web hit)

COL2A1 G1170Sinsufficiently evaluated pathogenicunknown

(5 web hits)

COL2A1 E1254Kinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
COL2A1 V1262Iinsufficiently evaluated noneunknown
COL2A1 V1331Iinsufficiently evaluated none, f=0.053unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
var-GS18942-1100-36-ASM
var-GS07357-1100-36-ASM
var-GS12004-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01175-DNA_D03 from PGP sample 27486199
COL2A1 G1336Sinsufficiently evaluated noneunknown

(1 web hit)

COL2A1 N1357Dinsufficiently evaluated not reviewedunknown
COL2A1 T1370Minsufficiently evaluated pathogenicunknown

(9 web hits)

COL2A1 I1381Vinsufficiently evaluated not reviewedunknown
COL2A1 Y1391Cinsufficiently evaluated pathogenicunknown

(12 web hits)

COL2A1 G1405Sinsufficiently evaluated none, f=0.069unknown

(2 web hits)

var-GS18942-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM
CGI sample GS000005532
hu232307 build 36 substitution variants
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS10851-1100-36-ASM
var-GS18537-1100-36-ASM
var-GS20502-1100-36-ASM
var-GS18947-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
var-GS19669-1100-36-ASM
var-GS18956-1100-36-ASM
COL2A1 N1426Dinsufficiently evaluated not reviewedunknown
COL2A1 C1438Xinsufficiently evaluated pathogenicunknown

(1 web hit)

COL2A1 T1439Mlikely pathogenicdominant

Reported to cause spondyloperipheral dysplasia in a dominant fashion, impairing bone growth. Evidence for this is unclear, only a single paper from 2001 is referenced as supporting evidence], which reports finding the variant in a single affected family: http://www.ncbi.nlm.nih.gov/pubmed/11746045 This effect is recorded in ClinVar by two sources: http://www.ncbi.nlm.nih.gov/clinvar/variation/17385/

COL2A1 G1443Sinsufficiently evaluated not reviewed, f=0.004unknown var-GS18504-1100-36-ASM
COL2A1 I1450Vinsufficiently evaluated not reviewedunknown
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Total results: 56

Gene search

"GENE" or "GENE A123C":

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