GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
OTOF P21Linsufficiently evaluated not reviewedunknown

(25 web hits)

hu728FFF build 36 substitution variants
OTOF I23Sinsufficiently evaluated not reviewedunknown
OTOF R26Cinsufficiently evaluated not reviewedunknown
OTOF R33Qinsufficiently evaluated none, f=0.007unknown

(3 web hits)

OTOF R49Winsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
OTOF P50Rinsufficiently evaluated pathogenicunknown

(2 web hits)

OTOF A53Vinsufficiently evaluated none, f=0.004unknown

(1 web hit)

var-GS18942-1100-36-ASM
var-GS19735-1100-36-ASM (hom)
var-GS18555-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01669-DNA_A04 from PGP sample 08188426
var-GS19669-1100-36-ASM (hom)
var-GS18956-1100-36-ASM
OTOF R75Winsufficiently evaluated not reviewedunknown

(14 web hits)

OTOF R82Cinsufficiently evaluated none, f=0.365unknown

(15 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu34D5B9 exome
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS19735-1100-36-ASM (hom)
CGI sample GS000006909
CGI sample GS000005532
var-GS19703-1100-36-ASM
var-GS12004-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS00253-DNA_G01_200_37 (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS18502-1100-36-ASM
var-GS19648-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
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
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
var-GS20502-1100-36-ASM (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_D01_200_37
CGI sample GS00253-DNA_C01_200_37
var-GS19670-1100-36-ASM
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM (hom)
var-GS20509-1100-36-ASM
var-GS06985-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
OTOF R83Cinsufficiently evaluated not reviewedunknown
OTOF R132Winsufficiently evaluated not reviewedunknown
OTOF R169Winsufficiently evaluated none, f=0.007unknown

(1 web hit)

var-GS18517-1100-36-ASM
OTOF I284Vinsufficiently evaluated not reviewedunknown
OTOF F303Linsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS000006909
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01669-DNA_B05 from PGP sample 86486261
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 GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_C01_200_37
CGI sample GS00253-DNA_H01_200_37
OTOF D304Yinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS00253-DNA_B01_200_37
CGI sample GS00253-DNA_F01_200_37
CGI sample GS00253-DNA_C01_200_37
OTOF A336Pinsufficiently evaluated not reviewedunknown
OTOF I341Vinsufficiently evaluated not reviewedunknown

(4 web hits)

OTOF S346Linsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
OTOF A393Pinsufficiently evaluated not reviewedunknown
OTOF N456Sinsufficiently evaluated noneunknown
OTOF N513Sinsufficiently evaluated noneunknown
OTOF I515Tinsufficiently evaluated pathogenicunknown

(15 web hits)

OTOF T547Minsufficiently evaluated not reviewed, f=0.000unknown var-GS19649-1100-36-ASM
OTOF G560Winsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D01 from PGP sample 31286272
OTOF V575Minsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS01173-DNA_A07 from PGP sample 96240009
OTOF Y730Xinsufficiently evaluated pathogenicunknown

(6 web hits)

OTOF G741Vinsufficiently evaluated not reviewedunknown PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
OTOF R773Cuncertain benign, f=0.016unknown

Presumed benign. Seen in 2.4% of randomly chosen chromosomes, contradicting a severe pathogenic hypothesis.

var-GS19700-1100-36-ASM
var-GS19649-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS00253-DNA_F01_200_37
OTOF R792Winsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F02 from PGP sample 70008981
OTOF E801Linsufficiently evaluated not reviewed, f=0.024unknown var-GS19704-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM
OTOF R822Wuncertain benign, f=0.018undefined

Rare variant, reported as a polymorphism also found in controls. Other severe variants in this gene are reported to cause autosomal recessive non-syndromic deafness.

CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS00253-DNA_D01_200_37
CGI sample GS01175-DNA_D03 from PGP sample 27486199
OTOF Q829Xinsufficiently evaluated pathogenicunknown

(194 web hits)

OTOF P879Sinsufficiently evaluated noneunknown

(3 web hits)

OTOF P956Sinsufficiently evaluated noneunknown

(3 web hits)

OTOF A975Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS19026-1100-36-ASM
OTOF L1011Pinsufficiently evaluated pathogenicunknown

(8 web hits)

OTOF R1026Winsufficiently evaluated not reviewed, f=0.004unknown var-GS18508-1100-36-ASM
OTOF I1031Vinsufficiently evaluated not reviewed, f=0.000unknown
OTOF R1068Hinsufficiently evaluated not reviewed, f=0.000unknown var-GS19025-1100-36-ASM
OTOF A1083Pinsufficiently evaluated not reviewed, f=0.018unknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS18502-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
OTOF R1086Qinsufficiently evaluated noneunknown
OTOF R1157Qinsufficiently evaluated not reviewed, f=0.011unknown var-GS20502-1100-36-ASM
OTOF R1163Qinsufficiently evaluated noneunknown
OTOF N1203Sinsufficiently evaluated none, f=0.020unknown var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS19129-1100-36-ASM
OTOF R1250Hinsufficiently evaluated not reviewed, f=0.008unknown var-GS19239-1100-36-ASM
OTOF C1251Ginsufficiently evaluated not reviewed, f=0.013unknown CGI sample GS01175-DNA_H01 from PGP sample 94797469
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS20509-1100-36-ASM
OTOF G1364Vinsufficiently evaluated not reviewed, f=0.001unknown var-GS18502-1100-36-ASM
OTOF P1646Sinsufficiently evaluated none, f=0.161unknown

(3 web hits)

var-GS19020-1100-36-ASM (hom)
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM (hom)
var-GS19703-1100-36-ASM
var-GS19704-1100-36-ASM (hom)
var-GS19834-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM (hom)
var-GS18508-1100-36-ASM
var-GS18517-1100-36-ASM
OTOF P1825Ainsufficiently evaluated pathogenicunknown

(10 web hits)

OTOF R1853Qinsufficiently evaluated none, f=0.006unknown
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Total results: 50

Gene search

"GENE" or "GENE A123C":

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