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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TBCEL-TECTA, TECTA
(T83M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(T165S +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 12
GUncertain significance
TBCEL-TECTA, TECTA
(C671Y +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 12
GUncertain significance
LOC126861365, TBCEL-TECTA
+1 more
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 21
GUncertain significance
TECTA, TBCEL-TECTA
(G1257S +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
TBCEL-TECTA, TECTA
Microsatellite
(splice donor variant)
Bilateral sensorineural hearing impairment
+2 more
GPathogenic
TBCEL-TECTA, TECTA
(T1866M +1 more)
Single nucleotide variant
(missense variant)
Rare genetic deafness
+5 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(P1914R +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 21
GUncertain significance
TBCEL-TECTA, TECTA
(E2035* +1 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 21
GPathogenic
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