GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
COL18A1 F15Iinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B05 from PGP sample 86486261
COL18A1 C16Linsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B05 from PGP sample 86486261
COL18A1 P48Ainsufficiently evaluated not reviewed, f=0.018unknown var-GS19025-1100-36-ASM (hom)
var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19017-1100-36-ASM
COL18A1 Q49Linsufficiently evaluated not reviewed, f=0.012unknown var-GS18504-1100-36-ASM
COL18A1 P80Rinsufficiently evaluated not reviewed, f=0.019unknown var-GS19025-1100-36-ASM (hom)
var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19017-1100-36-ASM
COL18A1 G111Rinsufficiently evaluated not reviewed, f=0.007unknown var-GS18504-1100-36-ASM
COL18A1 V144Iinsufficiently evaluated unknown, f=0.018unknown hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
hu728FFF build 36 substitution variants (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS06985-1100-36-ASM
COL18A1 G173Sinsufficiently evaluated not reviewed, f=0.003unknown CGI sample GS00253-DNA_B01_200_37
COL18A1 A180Tinsufficiently evaluated not reviewed, f=0.009unknown CGI sample GS00253-DNA_E01_200_37
COL18A1 RP200SSinsufficiently evaluated not reviewed, f=0.008unknown var-GS19649-1100-36-ASM
COL18A1 R261Winsufficiently evaluated not reviewed, f=0.008unknown var-GS19020-1100-36-ASM
COL18A1 A288Tinsufficiently evaluated not reviewed, f=0.250unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523
COL18A1 A303Tinsufficiently evaluated noneunknown
COL18A1 T379Minsufficiently evaluated none, f=0.355unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_H01 from PGP sample 94797469
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01175-DNA_D03 from PGP sample 27486199
COL18A1 L392Pinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
hu34D5B9 exome
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS01175-DNA_D05 from PGP sample 1205491
COL18A1 G425Rinsufficiently evaluated none, f=0.004unknown CGI sample GS01669-DNA_A04 from PGP sample 08188426
COL18A1 R439Linsufficiently evaluated not reviewed, f=0.048unknown var-GS19025-1100-36-ASM (hom)
var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19017-1100-36-ASM
COL18A1 D514Ninsufficiently evaluated noneunknown
COL18A1 G517Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS19020-1100-36-ASM
COL18A1 V646Minsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D03 from PGP sample 27486199
COL18A1 V661Iinsufficiently evaluated noneunknown
COL18A1 A683Tinsufficiently evaluated not reviewedunknown CGI sample GS000006909
COL18A1 D694Ninsufficiently evaluated none, f=0.016unknown var-GS19026-1100-36-ASM
var-GS18517-1100-36-ASM
COL18A1 P706Rinsufficiently evaluated not reviewedunknown

(413 web hits)

COL18A1 E716Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F06 from PGP sample 64191565
COL18A1 Q780Hinsufficiently evaluated noneunknown
COL18A1 V841Iinsufficiently evaluated none, f=0.081unknown var-GS19735-1100-36-ASM
var-GS19701-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19649-1100-36-ASM (hom)
var-GS19648-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS06994-1100-36-ASM
COL18A1 P886Rinsufficiently evaluated not reviewed, f=0.029unknown var-GS19735-1100-36-ASM
hu232307 build 36 substitution variants
var-GS19701-1100-36-ASM
var-GS06994-1100-36-ASM
COL18A1 V905Minsufficiently evaluated not reviewed, f=0.016unknown var-GS18501-1100-36-ASM
var-GS18508-1100-36-ASM
COL18A1 D929Ninsufficiently evaluated none, f=0.001unknown
COL18A1 Q960Hinsufficiently evaluated none, f=0.102unknown var-GS19025-1100-36-ASM (hom)
var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS18940-1100-36-ASM
COL18A1 V1076Iinsufficiently evaluated none, f=0.120unknown CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_B07 from PGP sample 61499538
COL18A1 L1082Delinsufficiently evaluated not reviewed, f=0.008unknown var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
COL18A1 G1108Rinsufficiently evaluated not reviewed, f=0.008unknown var-GS18501-1100-36-ASM
COL18A1 T1109Ainsufficiently evaluated not reviewedunknown
COL18A1 A1115Tinsufficiently evaluated noneunknown
COL18A1 P1121Rinsufficiently evaluated not reviewed, f=0.059unknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_B07 from PGP sample 61499538
COL18A1 PGP1127Delinsufficiently evaluated not reviewed, f=0.773unknown var-GS18942-1100-36-ASM (hom)
var-GS19700-1100-36-ASM (hom)
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM (hom)
var-GS07357-1100-36-ASM
var-GS12004-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
var-GS18555-1100-36-ASM (hom)
var-GS18537-1100-36-ASM (hom)
var-GS19129-1100-36-ASM (hom)
var-GS18947-1100-36-ASM (hom)
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM (hom)
var-GS18517-1100-36-ASM (hom)
COL18A1 P1176PGPPinsufficiently evaluated not reviewed, f=0.009unknown var-GS19129-1100-36-ASM
COL18A1 Q1195Hinsufficiently evaluated none, f=0.026unknown CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_D03 from PGP sample 27486199
COL18A1 V1222Minsufficiently evaluated noneunknown
COL18A1 D1257Ninsufficiently evaluated noneunknown
COL18A1 V1272Linsufficiently evaluated not reviewedunknown
COL18A1 T1289Ainsufficiently evaluated not reviewedunknown
COL18A1 A1295Tinsufficiently evaluated noneunknown
COL18A1 G1316Rinsufficiently evaluated not reviewed, f=0.008unknown var-GS18501-1100-36-ASM
COL18A1 PGPPGP1359Delinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01175-DNA_F02 from PGP sample 95788191
COL18A1 PGP1362Delinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
hu34D5B9 exome (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
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)
CGI sample GS00253-DNA_C01_200_37 (hom)
CGI sample GS00253-DNA_H01_200_37 (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 GS01175-DNA_D03 from PGP sample 27486199 (hom)
COL18A1 V1402Minsufficiently evaluated noneunknown
COL18A1 D1437Nuncertain pathogenicrecessive

This variant is reported to cause Knobloch syndrome (a rare disorder causing severe eye and head problems) in one family when compound heterozygous with another much more severe variant. This variant has an allele frequency much more common than the disease itself (3-4%) and probably only causes disease when paired with a more severe variant.

(15 web hits)

COL18A1 D1440Ninsufficiently evaluated not reviewed, f=0.055unknown var-GS18526-1100-36-ASM
var-GS18956-1100-36-ASM
COL18A1 A1441Vinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
COL18A1 V1452Linsufficiently evaluated not reviewedunknown
COL18A1 V1455Linsufficiently evaluated not reviewed, f=0.023unknown var-GS19025-1100-36-ASM (hom)
var-GS19026-1100-36-ASM
COL18A1 T1524Ainsufficiently evaluated not reviewedunknown
COL18A1 A1530Tinsufficiently evaluated noneunknown
COL18A1 A1533Tinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C05 from PGP sample 42408046
COL18A1 V1637Minsufficiently evaluated noneunknown
COL18A1 D1672Ninsufficiently evaluated noneunknown
COL18A1 D1675Ninsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS00253-DNA_D01_200_37 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523
COL18A1 V1687Linsufficiently evaluated not reviewedunknown
Page: 1 2 3 4 5 6 7
Total results: 61

Gene search

"GENE" or "GENE A123C":

Log in