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:

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
155 77 83 0 0 315

Gene and significance breakdown #

Total genes and gene combinations: 98
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
MYO15A 18 1 0 19
WFS1 10 5 2 17
MYO7A 9 1 5 15
USH2A 6 1 3 10
ADGRV1 3 3 3 9
MYH14 3 3 3 9
PCDH15 4 2 2 8
TBCEL-TECTA, TECTA 4 3 1 8
COL11A1 0 2 5 7
COL4A3, MFF-DT 4 1 2 7
LOXHD1 4 3 0 7
TMC1 7 0 0 7
TNC 1 2 4 7
ATP2B2 1 1 4 6
CDH23 1 0 5 6
SLC26A4 4 2 0 6
TJP2 3 1 2 6
KMT2D 1 2 2 5
MITF 4 0 1 5
MYO6 4 0 1 5
PDE1C 0 2 3 5
SIX1 2 1 2 5
GJB2 4 0 0 4
MYH9 2 1 1 4
OTOF 3 0 1 4
STRC 4 0 0 4
USH1C 1 2 1 4
COL4A6 0 3 0 3
GATA3 2 0 1 3
GJB3 2 1 0 3
LOC126861365, TBCEL-TECTA, TECTA 1 2 0 3
MYO3A 3 0 0 3
OPA1 2 1 0 3
POU3F4 2 1 0 3
SEMA3E 1 1 1 3
SLC26A5 0 1 2 3
USH1G 1 0 2 3
ACTG1 0 0 2 2
ACTG1, LOC130061940 0 0 2 2
ANKRD36 0 2 0 2
ATP11A 2 0 0 2
CABP2 2 0 0 2
CEACAM16 1 1 0 2
CHD7 2 0 0 2
COCH 2 0 0 2
COL11A2 0 2 0 2
COL4A5 1 0 1 2
DIABLO 0 1 1 2
DIAPH1 0 1 1 2
DMXL2 0 2 0 2
EYA4 1 1 0 2
EYA4, TARID 2 0 0 2
FGFR1 2 0 0 2
KCNQ4 0 0 2 2
MCM2 0 0 2 2
OTOG 0 2 0 2
RAI1 0 2 0 2
SLC17A8 1 0 1 2
TBC1D24 1 0 1 2
TMPRSS3 2 0 0 2
TRRAP 0 0 2 2
WHRN 0 2 0 2
AIFM1, RAB33A 0 0 1 1
ALMS1 0 1 0 1
ANKFN1, NOG 1 0 0 1
ANKH, LOC100130744, OTULIN 1 0 0 1
ATOH1 1 0 0 1
ATP6V1B1 0 1 0 1
ATP6V1B2 0 0 1 1
B3GNT4, DIABLO 0 1 0 1
BDP1 1 0 0 1
CDH23, LOC111982869 1 0 0 1
CIB2 1 0 0 1
CLDN9 0 1 0 1
CLPP 0 1 0 1
CLPP, LOC130063288 0 1 0 1
COL2A1 0 0 1 1
DIAPH3 0 0 1 1
DM1, LOC107075317, SIX5 1 0 0 1
EYA1 0 0 1 1
FGFR3 0 0 1 1
GPR156 0 1 0 1
GREB1L 0 0 1 1
GRIN2D, LOC130064857 1 0 0 1
LMX1A 0 0 1 1
LOC105378311, PCDH15 1 0 0 1
LOC124292588, LOC130001864, LOC130001865, LOC130001866, LOC130001867, TJP2 1 0 0 1
LOC130060416, MYO15A 1 0 0 1
LRP2 0 1 0 1
MAN2B1 0 1 0 1
MT-ND1, MT-TL1 1 0 0 1
NOG 1 0 0 1
PAX3 0 0 1 1
PKD1L2 0 1 0 1
POLR1B 0 1 0 1
POLR2F, SOX10 1 0 0 1
SYNE4 1 0 0 1
TCOF1 0 1 0 1

Condition and significance breakdown #

Total conditions: 105
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Condition pathogenic likely pathogenic uncertain significance total
Autosomal recessive nonsyndromic hearing loss 3 19 1 0 20
Autosomal recessive nonsyndromic hearing loss 2 7 0 3 10
Autosomal dominant nonsyndromic hearing loss 4A 3 3 3 9
Autosomal dominant nonsyndromic hearing loss 6 6 1 2 9
Usher syndrome type 2C 3 3 3 9
Autosomal recessive nonsyndromic hearing loss 12 3 0 5 8
Usher syndrome type 2A 4 1 3 8
Autosomal dominant nonsyndromic hearing loss 12 3 3 1 7
Autosomal dominant nonsyndromic hearing loss 51 4 1 2 7
Autosomal dominant nonsyndromic hearing loss 56 1 2 4 7
Autosomal recessive nonsyndromic hearing loss 7 7 0 0 7
Autosomal recessive nonsyndromic hearing loss 77 4 3 0 7
Hearing loss, autosomal dominant 37 0 2 5 7
Autosomal recessive nonsyndromic hearing loss 4 4 2 0 6
Wolfram syndrome 1 3 3 0 6
Autosomal dominant Alport syndrome 3 0 2 5
Autosomal dominant nonsyndromic hearing loss 11 2 1 2 5
Autosomal dominant nonsyndromic hearing loss 22 4 0 1 5
Autosomal dominant nonsyndromic hearing loss 23 2 1 2 5
Hearing loss, autosomal dominant 74 0 2 3 5
Hearing loss, autosomal dominant 82 0 1 4 5
Kabuki syndrome 1 1 2 2 5
Waardenburg syndrome type 2A 4 0 1 5
Autosomal dominant nonsyndromic hearing loss 10 3 1 0 4
Autosomal dominant nonsyndromic hearing loss 17 2 1 1 4
Autosomal dominant nonsyndromic hearing loss 20 0 0 4 4
Autosomal recessive nonsyndromic hearing loss 21 2 2 0 4
Autosomal recessive nonsyndromic hearing loss 23 2 1 1 4
Autosomal recessive nonsyndromic hearing loss 9 3 0 1 4
Usher syndrome type 1F 4 0 0 4
Autosomal dominant nonsyndromic hearing loss 16 3 0 0 3
Autosomal dominant nonsyndromic hearing loss 64 0 2 1 3
Autosomal recessive nonsyndromic hearing loss 18A 0 1 2 3
Autosomal recessive nonsyndromic hearing loss 1A 3 0 0 3
Autosomal recessive nonsyndromic hearing loss 61 0 1 2 3
CHARGE syndrome 2 0 1 3
Hearing loss, X-linked 6 0 3 0 3
Nonsyndromic genetic hearing loss 3 0 0 3
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 2 1 0 3
X-linked mixed hearing loss with perilymphatic gusher 2 1 0 3
Alport syndrome 3b, autosomal recessive 1 1 0 2
Autosomal dominant nonsyndromic hearing loss 1 0 1 1 2
Autosomal dominant nonsyndromic hearing loss 25 1 0 1 2
Autosomal dominant nonsyndromic hearing loss 2A 0 0 2 2
Autosomal dominant nonsyndromic hearing loss 2B 1 1 0 2
Autosomal dominant nonsyndromic hearing loss 70 0 0 2 2
Autosomal dominant nonsyndromic hearing loss 9 2 0 0 2
Autosomal recessive nonsyndromic hearing loss 16 2 0 0 2
Autosomal recessive nonsyndromic hearing loss 18B 0 2 0 2
Autosomal recessive nonsyndromic hearing loss 31 0 2 0 2
Autosomal recessive nonsyndromic hearing loss 53 0 2 0 2
Autosomal recessive nonsyndromic hearing loss 8 2 0 0 2
Autosomal recessive nonsyndromic hearing loss 93 2 0 0 2
Hearing loss, autosomal dominant 71 0 2 0 2
Hearing loss, autosomal dominant 75 0 0 2 2
Hearing loss, autosomal dominant 90 2 0 0 2
Hearing loss, autosomal recessive 0 2 0 2
Hypogonadotropic hypogonadism 2 with or without anosmia 2 0 0 2
Hypogonadotropic hypogonadism 5 with or without anosmia 1 1 0 2
Hypoparathyroidism, deafness, renal disease syndrome 1 0 1 2
Pendred syndrome 2 0 0 2
Perrault syndrome 3 0 2 0 2
Smith-Magenis syndrome 0 2 0 2
Stapes ankylosis with broad thumbs and toes 2 0 0 2
Usher syndrome type 1C 1 1 0 2
Usher syndrome type 1D 0 1 1 2
Usher syndrome type 1G 1 0 1 2
Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6 1 1 0 2
X-linked Alport syndrome 1 0 1 2
Alstrom syndrome 0 1 0 1
Autosomal dominant auditory neuropathy 1 0 0 1 1
Autosomal dominant deafness - onychodystrophy syndrome 0 0 1 1
Autosomal dominant nonsyndromic hearing loss 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 33 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 3A 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 65 0 0 1 1
Autosomal dominant nonsyndromic hearing loss 7 0 0 1 1
Autosomal recessive nonsyndromic hearing loss 30 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 48 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 76 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 86 1 0 0 1
Branchiootorenal syndrome 1 0 0 1 1
Branchiootorenal syndrome 2 1 0 0 1
Camptodactyly-tall stature-scoliosis-hearing loss syndrome 0 0 1 1
Craniometaphyseal dysplasia, autosomal dominant 1 0 0 1
Deafness, X-linked 5 0 0 1 1
Deficiency of alpha-mannosidase 0 1 0 1
Developmental and epileptic encephalopathy, 46 1 0 0 1
Dominant congenital non-syndromic sensorineural hearing loss 1 0 0 1
Dominant progressive sensorineural hearing loss 1 0 0 1
Donnai-Barrow syndrome 0 1 0 1
Hearing loss, autosomal dominant 80 0 0 1 1
Hearing loss, autosomal dominant 84 1 0 0 1
Hearing loss, autosomal recessive 112 1 0 0 1
Hearing loss, autosomal recessive 113 0 1 0 1
Hearing loss, autosomal recessive 116 0 1 0 1
Hearing loss, autosomal recessive 121 0 1 0 1
Hypogonadism with anosmia 1 0 0 1
MELAS syndrome 1 0 0 1
Otosclerosis 4 0 1 0 1
Renal tubular acidosis with progressive nerve deafness 0 1 0 1
Stickler syndrome type 1 0 0 1 1
Treacher Collins syndrome 1 0 1 0 1
Treacher Collins syndrome 4 0 1 0 1
Waardenburg syndrome type 1 0 0 1 1

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