ClinVar Miner

Variants from Laboratory of Prof. Karen Avraham, Tel Aviv University

Location: Israel  Primary collection method: research
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
83 8 0 0 0 91

Gene and significance breakdown #

Total genes and gene combinations: 42
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Gene or gene combination pathogenic likely pathogenic total
MYO15A 15 1 16
TMC1 7 0 7
LOXHD1 4 0 4
MYO6 4 0 4
MYO7A 4 0 4
SLC26A4 4 0 4
MITF 3 0 3
STRC 3 0 3
TBCEL-TECTA, TECTA 3 0 3
WFS1 2 1 3
ANKRD36 0 2 2
CABP2 2 0 2
COCH, LOC100506071 2 0 2
COL11A2 0 2 2
GATA3 2 0 2
POU3F4 2 0 2
TJP2 2 0 2
USH2A 2 0 2
ANKFN1, NOG 1 0 1
ATOH1 1 0 1
ATP11A 1 0 1
ATP2B2 1 0 1
CDH23, LOC111982869 1 0 1
CEACAM16 1 0 1
CIB2 1 0 1
CLPP 0 1 1
CLPP, LOC130063288 0 1 1
EYA4 1 0 1
EYA4, TARID 1 0 1
GJB2 1 0 1
GRIN2D, LOC130064857 1 0 1
LOC105378311, PCDH15 1 0 1
LOC124292588, LOC130001864, LOC130001865, LOC130001866, LOC130001867, TJP2 1 0 1
LOC126861365, TBCEL-TECTA, TECTA 1 0 1
LOC130060416, MYO15A 1 0 1
OTOF 1 0 1
PCDH15 1 0 1
POLR2F, SOX10 1 0 1
SIX1 1 0 1
SYNE4 1 0 1
TBC1D24 1 0 1
USH1C 1 0 1

Condition and significance breakdown #

Total conditions: 41
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Condition pathogenic likely pathogenic total
Autosomal recessive nonsyndromic hearing loss 3 16 1 17
Autosomal recessive nonsyndromic hearing loss 7 7 0 7
Autosomal dominant nonsyndromic hearing loss 22 4 0 4
Autosomal recessive nonsyndromic hearing loss 4 4 0 4
Autosomal recessive nonsyndromic hearing loss 77 4 0 4
Autosomal dominant nonsyndromic hearing loss 12 3 0 3
Autosomal dominant nonsyndromic hearing loss 16 3 0 3
Autosomal dominant nonsyndromic hearing loss 51 3 0 3
Autosomal recessive nonsyndromic hearing loss 2 3 0 3
Nonsyndromic genetic hearing loss 3 0 3
Waardenburg syndrome type 2A 3 0 3
Autosomal dominant nonsyndromic hearing loss 10 2 0 2
Autosomal dominant nonsyndromic hearing loss 9 2 0 2
Autosomal recessive nonsyndromic hearing loss 12 2 0 2
Autosomal recessive nonsyndromic hearing loss 23 2 0 2
Autosomal recessive nonsyndromic hearing loss 53 0 2 2
Autosomal recessive nonsyndromic hearing loss 93 2 0 2
Hearing loss, autosomal recessive 0 2 2
Pendred syndrome 2 0 2
Perrault syndrome 3 0 2 2
Wolfram syndrome 1 1 1 2
X-linked mixed hearing loss with perilymphatic gusher 2 0 2
Anosmia; Dominant congenital profound hearing loss 1 0 1
Autosomal dominant nonsyndromic hearing loss 1 0 1
Autosomal dominant nonsyndromic hearing loss 11 1 0 1
Autosomal dominant nonsyndromic hearing loss 33 1 0 1
Autosomal dominant nonsyndromic hearing loss 6 1 0 1
Autosomal recessive nonsyndromic hearing loss 16 1 0 1
Autosomal recessive nonsyndromic hearing loss 21 1 0 1
Autosomal recessive nonsyndromic hearing loss 48 1 0 1
Autosomal recessive nonsyndromic hearing loss 76 1 0 1
Autosomal recessive nonsyndromic hearing loss 86 1 0 1
Autosomal recessive nonsyndromic hearing loss 9 1 0 1
Branchiootic syndrome 3; Autosomal dominant nonsyndromic hearing loss 23 1 0 1
Developmental and epileptic encephalopathy, 46 1 0 1
Dominant congenital non-syndromic sensorineural hearing loss 1 0 1
Dominant progressive sensorineural hearing loss 1 0 1
Hypoparathyroidism, deafness, renal disease syndrome 1 0 1
Stapes ankylosis with broad thumbs and toes 1 0 1
Usher syndrome type 1C 1 0 1
Usher syndrome type 1F 1 0 1

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