ClinVar Miner

Variants from Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital

Location: China — Primary collection method: case-control
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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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
75 48 4 17 0 143

Gene and significance breakdown #

Total genes and gene combinations: 48
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
SLC26A4 14 15 0 0 29
GJB2 9 3 0 2 13
MYO15A 5 6 2 0 13
PTPN11 9 0 0 0 9
MYO7A 4 2 0 1 7
ADGRV1 4 2 0 0 6
TECTA 1 0 0 3 4
TRIOBP 2 2 0 0 4
CDH23 2 1 0 0 3
ERCC2 3 0 0 0 3
MYO3A 2 1 0 0 3
OTOF 2 1 0 0 3
PCDH15 2 1 0 0 3
TMC1 3 0 0 0 3
COL1A1 0 0 0 2 2
DSPP 0 1 0 1 2
LOXHD1 0 0 2 0 2
TPRN 1 1 0 0 2
USH1C 1 1 0 0 2
USH2A 2 0 0 0 2
ACTG1 0 1 0 0 1
ANAPC15, LRTOMT 0 1 0 0 1
C10orf105, CDH23 1 0 0 0 1
CLDN14 0 1 0 0 1
COL9A2 0 0 0 1 1
DIAPH1 0 0 0 1 1
EDNRB 0 1 0 0 1
ERCC3 1 0 0 0 1
FGF3 0 1 0 0 1
FGFR3 0 1 0 0 1
GIPC3 1 0 0 0 1
GJB3 1 0 0 0 1
ILDR1 1 0 0 0 1
KCNQ1 0 1 0 0 1
KCNQ4 0 1 0 0 1
MARVELD2 0 1 0 0 1
MITF 0 1 0 0 1
NDRG1 0 0 0 1 1
POU3F4 1 0 0 0 1
PROKR2 0 0 0 1 1
SALL1 0 0 0 1 1
SIX1 0 0 0 1 1
STRC 0 1 0 0 1
TBC1D24 0 0 0 1 1
TMPRSS3 1 0 0 0 1
TNC 0 0 0 1 1
USH1G 1 0 0 0 1
WHRN 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 49
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Condition pathogenic likely pathogenic uncertain significance likely benign total
Enlarged vestibular aqueduct 14 15 0 0 29
Deafness, autosomal recessive 1A 10 3 0 0 13
Deafness, autosomal recessive 3 5 6 2 0 13
Noonan syndrome 1 7 0 0 0 7
Deafness, autosomal recessive 2 4 2 0 0 6
Usher syndrome, type 2C 4 2 0 0 6
Deafness, autosomal recessive 12 3 1 0 0 4
Deafness, autosomal recessive 28 2 2 0 0 4
Deafness, autosomal dominant 12 0 0 0 3 3
Deafness, autosomal recessive 23 2 1 0 0 3
Deafness, autosomal recessive 30 2 1 0 0 3
Deafness, autosomal recessive 7 3 0 0 0 3
Deafness, autosomal recessive 9 2 1 0 0 3
Xeroderma pigmentosum, group D 3 0 0 0 3
Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 0 1 0 1 2
Deafness, autosomal dominant 3a 0 0 0 2 2
Deafness, autosomal recessive 18 1 1 0 0 2
Deafness, autosomal recessive 77 0 0 2 0 2
Deafness, autosomal recessive 79 1 1 0 0 2
LEOPARD syndrome 1 2 0 0 0 2
Osteogenesis imperfecta, recessive perinatal lethal 0 0 0 2 2
Usher syndrome, type 2A 2 0 0 0 2
not specified 0 0 0 2 2
Camptodactyly, tall stature, and hearing loss syndrome 0 1 0 0 1
DFNA 2 Nonsyndromic Hearing Loss 0 1 0 0 1
Deafness with labyrinthine aplasia microtia and microdontia (LAMM) 0 1 0 0 1
Deafness, X-linked 2 1 0 0 0 1
Deafness, autosomal dominant 1 0 0 0 1 1
Deafness, autosomal dominant 11 0 0 0 1 1
Deafness, autosomal dominant 20 0 1 0 0 1
Deafness, autosomal dominant 23 0 0 0 1 1
Deafness, autosomal dominant 56 0 0 0 1 1
Deafness, autosomal dominant 65 0 0 0 1 1
Deafness, autosomal recessive 15 1 0 0 0 1
Deafness, autosomal recessive 16 0 1 0 0 1
Deafness, autosomal recessive 21 1 0 0 0 1
Deafness, autosomal recessive 29 0 1 0 0 1
Deafness, autosomal recessive 31 1 0 0 0 1
Deafness, autosomal recessive 42 1 0 0 0 1
Deafness, autosomal recessive 49 0 1 0 0 1
Deafness, autosomal recessive 63 0 1 0 0 1
Deafness, autosomal recessive 8 1 0 0 0 1
Kallmann syndrome 3 0 0 0 1 1
Long QT syndrome 1 0 1 0 0 1
Stickler syndrome, type 5 0 0 0 1 1
Usher syndrome, type 1G 1 0 0 0 1
Waardenburg syndrome type 1 0 1 0 0 1
Waardenburg syndrome type 4A 0 1 0 0 1
Xeroderma pigmentosum, complementation group b 1 0 0 0 1

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