GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
COL6A3 C14Finsufficiently evaluated noneunknown

(1 web hit)

COL6A3 V66Ainsufficiently evaluated not reviewedunknown
COL6A3 D84Hinsufficiently evaluated not reviewedunknown
COL6A3 T85Sinsufficiently evaluated not reviewedunknown
COL6A3 T98Sinsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS18947-1100-36-ASM
COL6A3 T131Minsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants
COL6A3 D285Hinsufficiently evaluated not reviewedunknown

(1 web hit)

COL6A3 T286Sinsufficiently evaluated not reviewedunknown
COL6A3 D290Hinsufficiently evaluated not reviewedunknown
COL6A3 T291Sinsufficiently evaluated not reviewedunknown
COL6A3 T332Minsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants
COL6A3 T337Minsufficiently evaluated unknownunknown
COL6A3 A390Sinsufficiently evaluated noneunknown
COL6A3 A395Sinsufficiently evaluated noneunknown
COL6A3 F405Sinsufficiently evaluated not reviewed, f=0.001unknown var-GS18501-1100-36-ASM
COL6A3 L411Vinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
COL6A3 N430Hinsufficiently evaluated not reviewedunknown
COL6A3 N435Hinsufficiently evaluated not reviewedunknown
COL6A3 R465Xinsufficiently evaluated pathogenicunknown

(22 web hits)

COL6A3 D491Huncertain benign, f=0.002unknown

Probably benign.

(1 web hit)

CGI sample GS00253-DNA_D01_200_37
COL6A3 T492Suncertain benign, f=0.002unknown

Probably benign.

(1 web hit)

CGI sample GS00253-DNA_D01_200_37
COL6A3 T538Minsufficiently evaluated not reviewed, f=0.010unknown hu728FFF build 36 substitution variants
COL6A3 D563Ginsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F06 from PGP sample 64191565
COL6A3 A596Sinsufficiently evaluated none, f=0.023unknown var-GS18504-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18508-1100-36-ASM
var-GS18517-1100-36-ASM
COL6A3 N636Hinsufficiently evaluated not reviewedunknown
COL6A3 R659Hinsufficiently evaluated not reviewed, f=0.027unknown var-GS18504-1100-36-ASM
COL6A3 R677Hinsufficiently evaluated not reviewed, f=0.004unknown var-GS19704-1100-36-ASM
COL6A3 V757Minsufficiently evaluated not reviewedunknown
COL6A3 A807Tinsufficiently evaluated not reviewed, f=0.001unknown var-GS19735-1100-36-ASM
COL6A3 A830Sinsufficiently evaluated not reviewed, f=0.001unknown var-GS19735-1100-36-ASM
COL6A3 K882Qinsufficiently evaluated noneunknown

(1 web hit)

COL6A3 K887Qinsufficiently evaluated noneunknown

(1 web hit)

COL6A3 K888Qinsufficiently evaluated noneunknown

(1 web hit)

COL6A3 V957Minsufficiently evaluated not reviewedunknown
COL6A3 D1087Einsufficiently evaluated noneunknown
COL6A3 K1088Qinsufficiently evaluated none, f=0.048unknown

(3 web hits)

var-GS18504-1100-36-ASM
var-GS19735-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19240-1100-36-ASM
COL6A3 D1092Einsufficiently evaluated noneunknown
COL6A3 D1093Einsufficiently evaluated noneunknown
COL6A3 V1158Minsufficiently evaluated not reviewedunknown
COL6A3 V1163Minsufficiently evaluated not reviewedunknown
COL6A3 V1164Minsufficiently evaluated not reviewedunknown
COL6A3 R1189Qinsufficiently evaluated noneunknown
COL6A3 R1189Winsufficiently evaluated noneunknown

(1 web hit)

COL6A3 R1194Qinsufficiently evaluated noneunknown
COL6A3 R1194Winsufficiently evaluated noneunknown
COL6A3 R1195Qinsufficiently evaluated noneunknown
COL6A3 R1195Winsufficiently evaluated noneunknown
COL6A3 D1293Einsufficiently evaluated none, f=0.000unknown var-GS18956-1100-36-ASM
COL6A3 V1336Iinsufficiently evaluated not reviewed, f=0.000unknown var-GS19669-1100-36-ASM
COL6A3 V1364Minsufficiently evaluated not reviewed, f=0.001unknown CGI sample GS00253-DNA_B02_200_37
COL6A3 E1386Kuncertain benignunknown

Reported likely cause for Bethlem Myopathy by a genetics testing lab, but the publication reporting this (Lampe, et al.) reported observations in patients that aren’t different from the general allele frequency according to ExAC data (disproving a disease-causing hypothesis).

COL6A3 R1395Qinsufficiently evaluated none, f=0.000unknown
COL6A3 R1395Winsufficiently evaluated none, f=0.007unknown var-GS18504-1100-36-ASM
COL6A3 R1535Hinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_G02 from PGP sample 67180598
COL6A3 P1611Linsufficiently evaluated not reviewedunknown
COL6A3 D1642Ninsufficiently evaluated noneunknown
COL6A3 D1647Ninsufficiently evaluated noneunknown
COL6A3 D1648Ninsufficiently evaluated noneunknown
COL6A3 G1679Einsufficiently evaluated pathogenicunknown

(7 web hits)

COL6A3 D1681Ninsufficiently evaluated noneunknown
COL6A3 L1726Rinsufficiently evaluated pathogenicunknown

(1 web hit)

COL6A3 V1726Iinsufficiently evaluated not reviewedunknown
COL6A3 V1731Iinsufficiently evaluated not reviewedunknown
COL6A3 V1732Iinsufficiently evaluated not reviewedunknown
COL6A3 V1765Iinsufficiently evaluated not reviewedunknown
COL6A3 D1848Ninsufficiently evaluated none, f=0.008unknown var-GS18956-1100-36-ASM
COL6A3 R1891Pinsufficiently evaluated noneunknown

(1 web hit)

COL6A3 R1896Pinsufficiently evaluated noneunknown
COL6A3 R1897Pinsufficiently evaluated noneunknown
COL6A3 L1917Vinsufficiently evaluated not reviewedunknown
COL6A3 L1922Vinsufficiently evaluated not reviewedunknown
COL6A3 L1923Vinsufficiently evaluated not reviewedunknown
COL6A3 R1930Pinsufficiently evaluated noneunknown
COL6A3 V1932Iinsufficiently evaluated not reviewedunknown
COL6A3 L1956Vinsufficiently evaluated not reviewedunknown
COL6A3 P2012Linsufficiently evaluated noneunknown

(2 web hits)

COL6A3 P2017Linsufficiently evaluated noneunknown
COL6A3 P2018Linsufficiently evaluated noneunknown
COL6A3 P2051Linsufficiently evaluated noneunknown
COL6A3 R2097Pinsufficiently evaluated noneunknown
COL6A3 L2123Vinsufficiently evaluated not reviewedunknown
COL6A3 P2141Hinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B02 from PGP sample 94378523
COL6A3 P2218Linsufficiently evaluated none, f=0.086unknown

(2 web hits)

hu3215A7 build 36 substitution variants
var-GS19700-1100-36-ASM
var-GS07357-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19017-1100-36-ASM (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_D01_200_37
var-GS19238-1100-36-ASM
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM
COL6A3 D2224Hinsufficiently evaluated not reviewedunknown
COL6A3 F2308Linsufficiently evaluated not reviewedunknown
COL6A3 F2313Linsufficiently evaluated not reviewedunknown
COL6A3 F2314Linsufficiently evaluated not reviewedunknown
COL6A3 M2320Tinsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants (hom)
COL6A3 F2347Linsufficiently evaluated not reviewedunknown
COL6A3 M2381Vinsufficiently evaluated not reviewedunknown
COL6A3 A2405Pinsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants (hom)
COL6A3 A2437Vinsufficiently evaluated not reviewedunknown

(2 web hits)

COL6A3 A2442Vinsufficiently evaluated not reviewedunknown

(2 web hits)

COL6A3 A2443Vinsufficiently evaluated not reviewedunknown

(2 web hits)

COL6A3 T2462Iinsufficiently evaluated not reviewedunknown
COL6A3 A2476Vinsufficiently evaluated not reviewedunknown

(2 web hits)

COL6A3 F2514Linsufficiently evaluated not reviewedunknown
COL6A3 D2625Hinsufficiently evaluated not reviewedunknown
COL6A3 D2630Hinsufficiently evaluated not reviewedunknown
COL6A3 D2631Hinsufficiently evaluated not reviewedunknown
COL6A3 A2643Vinsufficiently evaluated not reviewed, f=0.005unknown

(2 web hits)

COL6A3 V2652Iinsufficiently evaluated not reviewedunknown
COL6A3 V2657Iinsufficiently evaluated not reviewedunknown
COL6A3 V2658Iinsufficiently evaluated not reviewedunknown
COL6A3 D2664Hinsufficiently evaluated not reviewedunknown
COL6A3 V2691Iinsufficiently evaluated not reviewedunknown
COL6A3 M2721Tinsufficiently evaluated not reviewedunknown

(6 web hits)

hu728FFF build 36 substitution variants (hom)
COL6A3 M2726Tinsufficiently evaluated noneunknown

(6 web hits)

COL6A3 M2727Tinsufficiently evaluated noneunknown

(6 web hits)

COL6A3 A2735Vinsufficiently evaluated noneunknown
COL6A3 A2740Vinsufficiently evaluated noneunknown
COL6A3 A2741Vinsufficiently evaluated noneunknown
COL6A3 M2760Tinsufficiently evaluated noneunknown

(6 web hits)

COL6A3 A2774Vinsufficiently evaluated noneunknown
COL6A3 M2782Vinsufficiently evaluated noneunknown

(1 web hit)

COL6A3 M2787Vinsufficiently evaluated noneunknown

(1 web hit)

COL6A3 M2788Vinsufficiently evaluated noneunknown

(1 web hit)

COL6A3 A2806Pinsufficiently evaluated not reviewedunknown

(7 web hits)

hu728FFF build 36 substitution variants (hom)
COL6A3 A2811Pinsufficiently evaluated noneunknown

(7 web hits)

COL6A3 A2812Pinsufficiently evaluated noneunknown

(7 web hits)

COL6A3 V2820Iinsufficiently evaluated not reviewed, f=0.003unknown var-GS19700-1100-36-ASM
COL6A3 M2821Vinsufficiently evaluated noneunknown

(1 web hit)

COL6A3 D2831Huncertain benign, f=0.068unknown

Probably benign, reported by Pan et al. as a presumed-nonpathogenic variant in the gene.

(2 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01175-DNA_H01 from PGP sample 94797469
CGI sample GS000005532
var-GS12004-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS10851-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS06994-1100-36-ASM
CGI sample GS01175-DNA_B04 from PGP sample 88590671
COL6A3 A2845Pinsufficiently evaluated noneunknown

(7 web hits)

COL6A3 V2858Iinsufficiently evaluated not reviewed, f=0.004unknown
COL6A3 T2863Iinsufficiently evaluated noneunknown

(2 web hits)

COL6A3 T2868Iinsufficiently evaluated noneunknown

(2 web hits)

COL6A3 T2869Iinsufficiently evaluated noneunknown

(2 web hits)

COL6A3 T2902Iinsufficiently evaluated noneunknown

(2 web hits)

COL6A3 A2915Einsufficiently evaluated not reviewedunknown hu34D5B9 exome
COL6A3 M2927Tinsufficiently evaluated not reviewed, f=0.700unknown

(6 web hits)

CGI sample GS00253-DNA_E01_200_37 (hom)
CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
var-GS19025-1100-36-ASM (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome (hom)
hu3215A7 build 36 substitution variants (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
var-GS18942-1100-36-ASM (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM (hom)
CGI sample GS000005532
var-GS19703-1100-36-ASM (hom)
var-GS12004-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37 (hom)
var-GS19701-1100-36-ASM (hom)
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS19129-1100-36-ASM (hom)
CGI sample GS00253-DNA_D01_200_37 (hom)
var-GS19240-1100-36-ASM
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426
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 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM (hom)
var-GS18517-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
COL6A3 A2941Vinsufficiently evaluated pathogenic, f=0.014dominant

This variant was found in a single Bethlem Myopathy patient in a screen for causative mutations, but there is insufficient data to evaluate significance. This disease is generally dominant; the presence of the mutation in public genomic sequences from two presumed-healthy individuals contradicts the putative pathogenic effect of this variant. Lack of controls means that significance cannot be established and allele frequency cannot be estimated.

var-GS19735-1100-36-ASM
var-GS19129-1100-36-ASM (hom)
COL6A3 A2960Delinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D01 from PGP sample 31286272
COL6A3 M2988Vinsufficiently evaluated none, f=0.069unknown

(1 web hit)

CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469
var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS000005532
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_C01_200_37
var-GS19669-1100-36-ASM
COL6A3 A3012Pinsufficiently evaluated not reviewed, f=0.835unknown

(7 web hits)

CGI sample GS00253-DNA_E01_200_37 (hom)
CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
var-GS19025-1100-36-ASM (hom)
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 (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
var-GS18942-1100-36-ASM (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM (hom)
CGI sample GS000005532 (hom)
var-GS19703-1100-36-ASM (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
CGI sample GS00253-DNA_G01_200_37 (hom)
var-GS19701-1100-36-ASM (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS00253-DNA_B01_200_37 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS00253-DNA_F01_200_37 (hom)
var-GS20502-1100-36-ASM (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)
CGI sample GS00253-DNA_D01_200_37 (hom)
var-GS19240-1100-36-ASM (hom)
CGI sample GS00253-DNA_C01_200_37 (hom)
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
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
var-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM (hom)
var-GS18517-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
COL6A3 T3069Iinsufficiently evaluated none, f=0.362unknown

(2 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu34D5B9 exome (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
var-GS18942-1100-36-ASM
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
var-GS19703-1100-36-ASM
CGI sample GS00253-DNA_G01_200_37
var-GS19701-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS10851-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19239-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS00253-DNA_D01_200_37
CGI sample GS00253-DNA_C01_200_37
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19670-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM (hom)
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
COL6A3 P3082Rpathogenicrecessive

Reported to cause early-onset dystonia by Zech et al (PMID: 26004199). Seen compound heterozygous with another variant in two affected siblings. Notably, two homozygous “control” individuals with South Asian ancestry are reported in ExAC, potentially contradicting the hypothesized effect.

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Total results: 137

Gene search

"GENE" or "GENE A123C":

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