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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TBCEL-TECTA, TECTA
(E185K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TECTA, TBCEL-TECTA
(P393S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBCEL-TECTA, TECTA
(D414E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TECTA, TBCEL-TECTA
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 12
+2 more
GUncertain significance
TBCEL-TECTA, TECTA
(M661L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBCEL-TECTA, TECTA
(G1010fs +1 more)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
TBCEL-TECTA, TECTA
(I1102fs +1 more)
Duplication
(frameshift variant)
not provided
GPathogenic
TBCEL-TECTA, TECTA
(C1464G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBCEL-TECTA, TECTA
(R1477H +1 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(C1775* +1 more)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
TBCEL-TECTA, TECTA
(T2099M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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