ClinVar Miner

Variants from Hereditary Research Laboratory, Bethlehem University

Location: Palestine, State of  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
55 1 1 0 0 57

Gene and significance breakdown #

Total genes and gene combinations: 29
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
CDH23 7 0 0 7
MYO7A 6 0 0 6
SLC26A4 6 0 0 6
MYO15A 4 0 0 4
TRIOBP 3 0 0 3
ADGRV1 2 0 0 2
ESRRB 2 0 0 2
GPSM2 2 0 0 2
NPC1 1 1 0 2
OTOF 2 0 0 2
TCIRG1 1 0 1 2
TMC1 2 0 0 2
​intergenic 1 0 0 1
CACNA1D 1 0 0 1
CLCN7 1 0 0 1
JAG1 1 0 0 1
LHFPL5 1 0 0 1
LOXHD1 1 0 0 1
MYH9 1 0 0 1
MYO6 1 0 0 1
OTOA 1 0 0 1
PAX3 1 0 0 1
PCDH15 1 0 0 1
POU3F4 1 0 0 1
PTRH2 1 0 0 1
SNX10 1 0 0 1
TBCEL-TECTA, TECTA 1 0 0 1
TMPRSS3 1 0 0 1
USH1G 1 0 0 1

Condition and significance breakdown #

Total conditions: 28
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Condition pathogenic likely pathogenic uncertain significance total
Autosomal recessive nonsyndromic hearing loss 12 7 0 0 7
Autosomal recessive nonsyndromic hearing loss 2 6 0 0 6
Pendred syndrome 6 0 0 6
Autosomal recessive nonsyndromic hearing loss 3 4 0 0 4
Autosomal recessive nonsyndromic hearing loss 28 3 0 0 3
Hearing loss, autosomal recessive 3 0 0 3
Autosomal recessive nonsyndromic hearing loss 35 2 0 0 2
Autosomal recessive nonsyndromic hearing loss 7 2 0 0 2
Autosomal recessive nonsyndromic hearing loss 9 2 0 0 2
Autosomal recessive osteopetrosis 1 1 0 1 2
Niemann-Pick disease, type C1 1 1 0 2
Usher syndrome type 2C 2 0 0 2
Alagille syndrome due to a JAG1 point mutation 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 22 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 21 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 22 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 23 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 67 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 77 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 8 1 0 0 1
Autosomal recessive osteopetrosis 4 1 0 0 1
Autosomal recessive osteopetrosis 7 1 0 0 1
Autosomal recessive osteopetrosis 8 1 0 0 1
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 0 0 1
Sinoatrial node dysfunction and deafness 1 0 0 1
Usher syndrome type 1G 1 0 0 1
Waardenburg syndrome type 1 1 0 0 1
X-linked mixed hearing loss with perilymphatic gusher 1 0 0 1

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