Laboratory of Prof. Karen Avraham (Tel Aviv University)

General information

Laboratory of Prof. Karen Avraham
Tel Aviv University
Ramat Aviv
Tel Aviv
Israel - 69978

Organization ID: 505713

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 92

Gene

GeneSubmissionsLast Updated
ANKRD362Mar 8, 2020
ATOH11Nov 24, 2019
ATP2B21Mar 8, 2020
CABP22Mar 8, 2020
CDH231May 3, 2016
CEACAM161May 3, 2016
CIB21Feb 4, 2021
CLPP2Nov 24, 2019
COCH2Nov 24, 2019
COL11A22Nov 24, 2019
EYA42Mar 5, 2020
GATA32Nov 24, 2019
GJB21May 3, 2016
GRIN2D1Jan 12, 2021
LOC1005060712Nov 24, 2019
LOC1053715664Oct 27, 2020
LOC1053783111Nov 24, 2019
LOC1119828691May 3, 2016
LOXHD14Dec 31, 2020
MITF3Nov 24, 2019
MYO15A17Feb 4, 2021
MYO64Mar 8, 2020
MYO7A4Nov 24, 2019
OTOF1May 3, 2016
PCDH153Nov 24, 2019
POLR2F1Nov 24, 2019
POU3F42Nov 24, 2019
SLC26A46Nov 24, 2019
SOX101Nov 24, 2019
STRC4Mar 5, 2020
SYNE41May 3, 2016
TARID1Mar 5, 2020
TBC1D241May 3, 2016
TBCEL-TECTA4Nov 24, 2019
TECTA4Nov 24, 2019
TJP23Nov 24, 2019
TMC17May 3, 2016
USH1C1Nov 24, 2019
USH2A2May 3, 2016
USH2A-AS11May 3, 2016
WFS12Nov 24, 2019

Condition

NameSubmissionsLast Updated
Anosmia1Nov 24, 2019
Autosomal dominant non-syndromic sensorineural deafness type DFNA1Mar 8, 2020
Autosomal dominant nonsyndromic deafness 224Mar 8, 2020
Autosomal dominant nonsyndromic deafness 61Nov 24, 2019
DFNA6/14/38 Nonsyndromic Low-Frequency Sensorineural Hearing Loss1May 3, 2016
Deafness, X-linked 22Nov 24, 2019
Deafness, autosomal dominant 102Mar 5, 2020
Deafness, autosomal dominant 111May 3, 2016
Deafness, autosomal dominant 123May 3, 2016
Deafness, autosomal dominant 163May 3, 2016
Deafness, autosomal dominant 513Nov 24, 2019
Deafness, autosomal dominant 92Nov 24, 2019
Deafness, autosomal recessive2Mar 8, 2020
Deafness, autosomal recessive 122May 3, 2016
Deafness, autosomal recessive 161Mar 5, 2020
Deafness, autosomal recessive 23Nov 24, 2019
Deafness, autosomal recessive 211Nov 24, 2019
Deafness, autosomal recessive 232Nov 24, 2019
Deafness, autosomal recessive 317Feb 4, 2021
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct4Nov 24, 2019
Deafness, autosomal recessive 481Feb 4, 2021
Deafness, autosomal recessive 532Nov 24, 2019
Deafness, autosomal recessive 77May 3, 2016
Deafness, autosomal recessive 761May 3, 2016
Deafness, autosomal recessive 774Dec 31, 2020
Deafness, autosomal recessive 861May 3, 2016
Deafness, autosomal recessive 91May 3, 2016
Deafness, autosomal recessive 932Mar 8, 2020
Dominant congenital non-syndromic sensorineural hearing loss1Nov 24, 2019
Dominant congenital profound hearing loss1Nov 24, 2019
Dominant progressive sensorineural hearing loss1Nov 24, 2019
Epileptic encephalopathy, early infantile, 461Jan 12, 2021
Hypoparathyroidism, deafness, renal disease syndrome1May 3, 2016
Nonsyndromic hearing loss and deafness3May 3, 2016
Pendred syndrome2May 3, 2016
Perrault syndrome 32Nov 24, 2019
Stapes ankylosis with broad thumb and toes1Nov 30, 2020
Usher syndrome type 1F1Nov 24, 2019
Usher syndrome, type 1C1Nov 24, 2019
Waardenburg syndrome type 2A3Nov 24, 2019
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