GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
TCOF1 R5Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS19701-1100-36-ASM
TCOF1 A41Vinsufficiently evaluated benign, f=0.002dominant

The variant was initially reported causative for Treacher-Collins syndrome, but later research found that it did not segregate with disease.

(8 web hits)

TCOF1 Y50Cinsufficiently evaluated pathogenicunknown

(1 web hit)

TCOF1 A99Tinsufficiently evaluated not reviewed, f=0.002unknown var-GS19704-1100-36-ASM
TCOF1 A241Ginsufficiently evaluated not reviewedunknown
TCOF1 Q252Xinsufficiently evaluated pathogenicunknown

(6 web hits)

TCOF1 A297Sinsufficiently evaluated not reviewedunknown
TCOF1 A318Ginsufficiently evaluated not reviewed, f=0.008unknown
TCOF1 A374Sinsufficiently evaluated not reviewed, f=0.001unknown
TCOF1 A378Vinsufficiently evaluated not reviewed, f=0.012unknown var-GS21767-1100-36-ASM
TCOF1 S410Linsufficiently evaluated not reviewed, f=0.014unknown var-GS19020-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS18508-1100-36-ASM (hom)
TCOF1 V518Iinsufficiently evaluated not reviewedunknown
TCOF1 A588Pinsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants
TCOF1 V595Iinsufficiently evaluated not reviewed, f=0.009unknown
TCOF1 A665Pinsufficiently evaluated not reviewed, f=0.058unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
hu3215A7 build 36 substitution variants
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS07357-1100-36-ASM
hu232307 build 36 substitution variants
CGI sample GS01669-DNA_B05 from PGP sample 86486261
hu728FFF build 36 substitution variants
var-GS06994-1100-36-ASM
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM
TCOF1 P672Sinsufficiently evaluated benigndominant

The variant was not found to segregate with disease.

(1 web hit)

TCOF1 P730Sinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_H05 from PGP sample 10971581
TCOF1 P749Sinsufficiently evaluated none, f=0.011unknown var-GS19239-1100-36-ASM
var-GS19240-1100-36-ASM
TCOF1 E803Kinsufficiently evaluated noneunknown
TCOF1 V810Ainsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants
TCOF1 E880Kinsufficiently evaluated noneunknown
TCOF1 V887Ainsufficiently evaluated not reviewed, f=0.192unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
var-GS19025-1100-36-ASM
hu3215A7 build 36 substitution variants
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS18501-1100-36-ASM
var-GS07357-1100-36-ASM
hu232307 build 36 substitution variants
var-GS19701-1100-36-ASM
var-GS21767-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
CGI sample GS00253-DNA_B02_200_37
var-GS19129-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS06994-1100-36-ASM
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS19026-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM
TCOF1 R911Xinsufficiently evaluated pathogenicunknown

(1 web hit)

TCOF1 S922Linsufficiently evaluated not reviewed, f=0.022unknown hu34D5B9 exome
var-GS18501-1100-36-ASM
var-GS21767-1100-36-ASM
TCOF1 A948Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS18947-1100-36-ASM
TCOF1 Q955Rinsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants
TCOF1 A1004Tinsufficiently evaluated not reviewedunknown
TCOF1 A1081Tinsufficiently evaluated not reviewedunknown
TCOF1 P1099Rinsufficiently evaluated noneunknown

(7 web hits)

TCOF1 P1100Rinsufficiently evaluated noneunknown

(2 web hits)

TCOF1 P1138Rinsufficiently evaluated none, f=0.109unknown

(2 web hits)

var-GS07357-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS19648-1100-36-ASM
var-GS20509-1100-36-ASM
TCOF1 P1139Rinsufficiently evaluated none, f=0.170unknown

(2 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS000005532
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS00253-DNA_F01_200_37 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538
TCOF1 P1176Rinsufficiently evaluated noneunknown

(2 web hits)

TCOF1 K1297Rinsufficiently evaluated not reviewed, f=0.016unknown var-GS19669-1100-36-ASM
TCOF1 K1298Rinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B02 from PGP sample 94378523
TCOF1 A1313Vinsufficiently evaluated noneunknown

(1 web hit)

TCOF1 A1314Vinsufficiently evaluated noneunknown
TCOF1 S1330Pinsufficiently evaluated not reviewedunknown
TCOF1 S1331Pinsufficiently evaluated not reviewedunknown
TCOF1 A1352Vinsufficiently evaluated none, f=0.234unknown var-GS19020-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM (hom)
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS18537-1100-36-ASM
var-GS20502-1100-36-ASM
var-GS18947-1100-36-ASM
var-GS19669-1100-36-ASM (hom)
var-GS20509-1100-36-ASM
var-GS18956-1100-36-ASM
TCOF1 A1353Vinsufficiently evaluated none, f=0.214unknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu34D5B9 exome
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
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523
TCOF1 G1354Ainsufficiently evaluated noneunknown

(1 web hit)

TCOF1 G1355Ainsufficiently evaluated noneunknown
TCOF1 S1369Pinsufficiently evaluated not reviewedunknown
TCOF1 S1370Pinsufficiently evaluated not reviewedunknown
TCOF1 A1390Vinsufficiently evaluated noneunknown
TCOF1 G1393Ainsufficiently evaluated none, f=0.016unknown var-GS20509-1100-36-ASM
TCOF1 G1394Ainsufficiently evaluated none, f=0.016unknown hu34D5B9 exome
CGI sample GS01175-DNA_B04 from PGP sample 88590671
TCOF1 S1407Pinsufficiently evaluated not reviewedunknown
TCOF1 E1418Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS19735-1100-36-ASM
TCOF1 G1431Ainsufficiently evaluated noneunknown
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Total results: 51

Gene search

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