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Items: 1 to 100 of 457

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TECTA, TBCEL-TECTA
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 12
+3 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(Q19R +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
TBCEL-TECTA, TECTA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TBCEL-TECTA, TECTA
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 21
+3 more
GConflicting classifications of pathogenicity
TECTA, TBCEL-TECTA
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TBCEL-TECTA, TECTA
(R63C +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
TECTA, TBCEL-TECTA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TECTA, TBCEL-TECTA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TBCEL-TECTA, TECTA
(V386L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TBCEL-TECTA, TECTA
(V396A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
TBCEL-TECTA, TECTA
(T83M)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 21
+1 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(M117V +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
TBCEL-TECTA, TECTA
(E437fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
TBCEL-TECTA, TECTA
(P119S +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
TBCEL-TECTA, TECTA
(P119T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
(A439S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TBCEL-TECTA, TECTA
(E150Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBCEL-TECTA, TECTA
(V152L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
(T153M +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TBCEL-TECTA, TECTA
(G157D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TBCEL-TECTA, TECTA
Single nucleotide variant
(intron variant)
not provided
GBenign
TBCEL-TECTA, TECTA
Single nucleotide variant
(intron variant)
Nonsyndromic genetic hearing loss
TBCEL-TECTA, TECTA
(Y176C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(A193T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBCEL-TECTA, TECTA
(D516N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBCEL-TECTA, TECTA
(L199fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
TBCEL-TECTA, TECTA
(G201C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
(G204E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBCEL-TECTA, TECTA
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign/Likely benign
TBCEL-TECTA, TECTA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TBCEL-TECTA, TECTA
Single nucleotide variant
(intron variant)
not specified
+1 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(P228S +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
TECTA, TBCEL-TECTA
(E548K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
TBCEL-TECTA, TECTA
(V231M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
TBCEL-TECTA, TECTA
(Q234R +1 more)
Single nucleotide variant
(missense variant)
Nonsyndromic genetic hearing loss
TBCEL-TECTA, TECTA
(T236A +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 12
+2 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(N240S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBCEL-TECTA, TECTA
(R244H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBCEL-TECTA, TECTA
(K571E +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
TECTA, TBCEL-TECTA
Single nucleotide variant
(intron variant)
not specified
+3 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TBCEL-TECTA, TECTA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TBCEL-TECTA, TECTA
(R588Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(G270R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TBCEL-TECTA, TECTA
(E271Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TBCEL-TECTA, TECTA
(V281I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(N289K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBCEL-TECTA, TECTA
(E622Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 21
+3 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 21
+3 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(R350* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
TBCEL-TECTA, TECTA
(S362I +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 21
+3 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TBCEL-TECTA, TECTA
(R371G +1 more)
Single nucleotide variant
(missense variant)
Nonsyndromic genetic hearing loss
TBCEL-TECTA, TECTA
(V378M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(L391P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TECTA, TBCEL-TECTA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TBCEL-TECTA, TECTA
(T431S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TBCEL-TECTA, TECTA
(G451D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TBCEL-TECTA, TECTA
(Y783C +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
TBCEL-TECTA, TECTA
(R474H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
(P475L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
TBCEL-TECTA, TECTA
(P479L +1 more)
Single nucleotide variant
(missense variant)
Nonsyndromic genetic hearing loss
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TBCEL-TECTA, TECTA
(M481I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 12
+3 more
GBenign
TBCEL-TECTA, TECTA
(D500N)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
TBCEL-TECTA, TECTA
(S501F +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 21
+3 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 21
+3 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TBCEL-TECTA, TECTA
(G532S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBCEL-TECTA, TECTA
(E536fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
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