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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126861365, TBCEL-TECTA
+1 more
(E882K +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
(G1405D +1 more)
Single nucleotide variant
(missense variant)
Hearing impairment
GUncertain significance
TECTA, TBCEL-TECTA
(N1601S +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
TBCEL-TECTA, TECTA
(S1963R +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 12
GUncertain significance
TBCEL-TECTA, TECTA
(T1866M +1 more)
Single nucleotide variant
(missense variant)
Rare genetic deafness
+5 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(R2021C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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