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Items: 1 to 100 of 398

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC132088675, LOC132088682
+1585 more
Copy number gain
See cases
GPathogenic
ADAMTS4, ADCY10
+775 more
Copy number gain
See cases
GPathogenic
ADAMTS4, ALDH9A1
+371 more
Copy number loss
See cases
GPathogenic
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
EAST syndrome
+1 more
GUncertain significance
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
EAST syndrome
+1 more
GUncertain significance
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
EAST syndrome
+1 more
GUncertain significance
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
EAST syndrome
+1 more
GUncertain significance
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 4
+1 more
GUncertain significance
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
EAST syndrome
+1 more
GUncertain significance
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
EAST syndrome
+1 more
GConflicting classifications of pathogenicity
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
EAST syndrome
+1 more
GUncertain significance
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
EAST syndrome
+1 more
GBenign/Likely benign
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
EAST syndrome
+1 more
GUncertain significance
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
EAST syndrome
+1 more
GUncertain significance
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
EAST syndrome
+1 more
GUncertain significance
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
EAST syndrome
+1 more
GUncertain significance
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
EAST syndrome
+1 more
GUncertain significance
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
EAST syndrome
+1 more
GUncertain significance
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
EAST syndrome
+1 more
GUncertain significance
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
EAST syndrome
+1 more
GUncertain significance
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
EAST syndrome
+1 more
GUncertain significance
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
EAST syndrome
+1 more
GUncertain significance
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 4
+1 more
GUncertain significance
KCNJ10
Deletion
(3 prime UTR variant)
Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome
+2 more
GUncertain significance
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 4
+1 more
GUncertain significance
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 4
+1 more
GUncertain significance
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
EAST syndrome
+2 more
GConflicting classifications of pathogenicity
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
EAST syndrome
+1 more
GUncertain significance
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome
+2 more
GUncertain significance
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
EAST syndrome
+1 more
GUncertain significance
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 4
+1 more
GUncertain significance
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
EAST syndrome
+1 more
GConflicting classifications of pathogenicity
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
EAST syndrome
+1 more
GUncertain significance
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
Pendred syndrome
+2 more
GUncertain significance
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
EAST syndrome
+1 more
GUncertain significance
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
EAST syndrome
+1 more
GConflicting classifications of pathogenicity
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
EAST syndrome
+1 more
GUncertain significance
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
EAST syndrome
+2 more
GConflicting classifications of pathogenicity
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
EAST syndrome
+1 more
GConflicting classifications of pathogenicity
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GConflicting classifications of pathogenicity
KCNJ10
Microsatellite
(3 prime UTR variant)
not provided
GBenign
KCNJ10
Microsatellite
(3 prime UTR variant)
Pendred syndrome
+2 more
GUncertain significance
KCNJ10
Microsatellite
(3 prime UTR variant)
Pendred syndrome
+2 more
GUncertain significance
KCNJ10
Microsatellite
(3 prime UTR variant)
not provided
GBenign
KCNJ10
Microsatellite
(3 prime UTR variant)
Pendred syndrome
+3 more
GConflicting classifications of pathogenicity
KCNJ10
Microsatellite
(3 prime UTR variant)
Pendred syndrome
+3 more
GConflicting classifications of pathogenicity
KCNJ10
Microsatellite
(3 prime UTR variant)
Pendred syndrome
+3 more
GBenign/Likely benign
KCNJ10
Microsatellite
(3 prime UTR variant)
Pendred syndrome
+3 more
GConflicting classifications of pathogenicity
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 4
+1 more
GUncertain significance
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
EAST syndrome
+1 more
GUncertain significance
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 4
+1 more
GConflicting classifications of pathogenicity
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 4
+1 more
GUncertain significance
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign/Likely benign
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
EAST syndrome
+1 more
GUncertain significance
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
EAST syndrome
+1 more
GUncertain significance
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 4
+1 more
GUncertain significance
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 4
+2 more
GBenign
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 4
+1 more
GUncertain significance
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
EAST syndrome
+1 more
GBenign/Likely benign
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 4
+1 more
GUncertain significance
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
EAST syndrome
+1 more
GBenign/Likely benign
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
EAST syndrome
+1 more
GBenign/Likely benign
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 4
+1 more
GUncertain significance
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
EAST syndrome
+1 more
GUncertain significance
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
EAST syndrome
+2 more
GConflicting classifications of pathogenicity
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
EAST syndrome
+1 more
GUncertain significance
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
EAST syndrome
+1 more
GBenign/Likely benign
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
EAST syndrome
+1 more
GBenign/Likely benign
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
EAST syndrome
+1 more
GUncertain significance
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
EAST syndrome
+1 more
GUncertain significance
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 4
+1 more
GUncertain significance
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
Nonsyndromic Hearing Loss, Mixed
+2 more
GUncertain significance
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
EAST syndrome
+1 more
GUncertain significance
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
EAST syndrome
+1 more
GUncertain significance
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 4
+1 more
GUncertain significance
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign/Likely benign
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 4
+1 more
GUncertain significance
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
EAST syndrome
+1 more
GUncertain significance
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
EAST syndrome
+1 more
GConflicting classifications of pathogenicity
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
EAST syndrome
+1 more
GUncertain significance
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
EAST syndrome
+1 more
GUncertain significance
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 4
+1 more
GBenign/Likely benign
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 4
+1 more
GBenign/Likely benign
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
EAST syndrome
+1 more
GUncertain significance
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome
+2 more
GUncertain significance
KCNJ10
Single nucleotide variant
(3 prime UTR variant)
EAST syndrome
+1 more
GUncertain significance
KCNJ10
Single nucleotide variant
(stop lost)
Autosomal recessive nonsyndromic hearing loss 4
+2 more
GUncertain significance
KCNJ10
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+4 more
GLikely benign
KCNJ10
Single nucleotide variant
(synonymous variant)
EAST syndrome
GLikely benign
KCNJ10
(N378Y)
Single nucleotide variant
(missense variant)
EAST syndrome
GUncertain significance
KCNJ10
(R375H)
Single nucleotide variant
(missense variant)
EAST syndrome
+1 more
GUncertain significance
KCNJ10
(R375C)
Single nucleotide variant
(missense variant)
EAST syndrome
+2 more
GUncertain significance
KCNJ10
(A371V)
Single nucleotide variant
(missense variant)
EAST syndrome
GUncertain significance
KCNJ10
Single nucleotide variant
(synonymous variant)
EAST syndrome
GLikely benign
KCNJ10
(G369D)
Single nucleotide variant
(missense variant)
EAST syndrome
GUncertain significance
KCNJ10
Single nucleotide variant
(synonymous variant)
EAST syndrome
GLikely benign
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