ClinVar Miner

Variants from Deafness Molecular Diagnostic Center, Chinese PLA General Hospital

Location: China  Primary collection method: case-control
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
71 34 37 0 0 142

Gene and significance breakdown #

Total genes and gene combinations: 40
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
MYO15A 12 6 8 26
SLC26A4 20 5 1 26
OTOF 9 7 0 16
CDH23 1 2 9 12
MYO7A 2 1 2 5
MITF 1 2 1 4
POU3F4 3 1 0 4
CHD7 3 0 0 3
GJB2 1 1 1 3
TMC1 1 0 2 3
AIFM1, RAB33A 0 2 0 2
C10orf105, CDH23 0 0 2 2
COL4A3, MFF-DT 2 0 0 2
EYA4 2 0 0 2
HARS2 0 0 2 2
LARS2 2 0 0 2
PCDH15 0 1 1 2
TBC1D24 0 0 2 2
TIMM8A 1 1 0 2
USH2A 1 1 0 2
ADGRV1 0 0 1 1
CLRN1 0 1 0 1
EYA1 1 0 0 1
GATA3 1 0 0 1
LHFPL5 1 0 0 1
LOC112840921, OTOF 0 1 0 1
LOC123956210, SLC26A4 1 0 0 1
LOC127814297, POU4F3 0 0 1 1
LOXHD1 1 0 0 1
MSRB3 0 1 0 1
MYH14 1 0 0 1
MYH9 0 0 1 1
MYO3A 1 0 0 1
OTOA 0 0 1 1
P2RX2 0 0 1 1
PJVK 0 0 1 1
SMPX 0 1 0 1
TMIE 1 0 0 1
TMPRSS3 1 0 0 1
TRIOBP 1 0 0 1

Condition and significance breakdown #

Total conditions: 37
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Condition pathogenic likely pathogenic uncertain significance total
Autosomal recessive nonsyndromic hearing loss 4 21 5 1 27
Autosomal recessive nonsyndromic hearing loss 3 12 6 8 26
Autosomal recessive nonsyndromic hearing loss 9 9 8 0 17
Autosomal recessive nonsyndromic hearing loss 12 1 2 11 14
Autosomal recessive nonsyndromic hearing loss 2 2 1 2 5
Waardenburg syndrome type 2A 1 2 1 4
X-linked mixed hearing loss with perilymphatic gusher 3 1 0 4
Autosomal recessive nonsyndromic hearing loss 1A 1 1 1 3
Autosomal recessive nonsyndromic hearing loss 7 1 0 2 3
CHARGE association 3 0 0 3
Autosomal dominant nonsyndromic hearing loss 10 2 0 0 2
Autosomal recessive Alport syndrome 2 0 0 2
Autosomal recessive nonsyndromic hearing loss 23 0 1 1 2
Autosomal recessive nonsyndromic hearing loss 86 0 0 2 2
Deafness dystonia syndrome 1 1 0 2
Deafness, X-linked 5 0 2 0 2
Perrault syndrome 2 0 0 2 2
Perrault syndrome 4 2 0 0 2
Usher syndrome type 2A 1 1 0 2
Autosomal dominant nonsyndromic hearing loss 15 0 0 1 1
Autosomal dominant nonsyndromic hearing loss 41 0 0 1 1
Autosomal dominant nonsyndromic hearing loss 4A 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 22 0 0 1 1
Autosomal recessive nonsyndromic hearing loss 28 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 30 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 59 0 0 1 1
Autosomal recessive nonsyndromic hearing loss 6 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 67 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 74 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 77 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 8 1 0 0 1
Branchiootic syndrome 1 1 0 0 1
Hearing loss, X-linked 4 0 1 0 1
Hypoparathyroidism, deafness, renal disease syndrome 1 0 0 1
Type 1 diabetes mellitus 17 0 0 1 1
Usher syndrome type 2C 0 0 1 1
Usher syndrome type 3A 0 1 0 1

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