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Items: 45

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(L180F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBCEL-TECTA, TECTA
(E185G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBCEL-TECTA, TECTA
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign/Likely benign
TBCEL-TECTA, TECTA
(Q234R +1 more)
Single nucleotide variant
(missense variant)
Nonsyndromic genetic hearing loss
GLikely benign
TBCEL-TECTA, TECTA
(R244fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
TBCEL-TECTA, TECTA
(E271Q +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(T562M +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 12
+1 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
TECTA, TBCEL-TECTA
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
TBCEL-TECTA, TECTA
(D612N +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(C631* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
TBCEL-TECTA, TECTA
(T672I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(K708R +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GLikely benign
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
TBCEL-TECTA, TECTA
(P763L +1 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
TECTA, LOC126861365
+1 more
(S803L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LOC126861365, TBCEL-TECTA
+1 more
(T815M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
+1 more
(A856S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
LOC126861365, TBCEL-TECTA
+1 more
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LOC126861365, TECTA
+1 more
(V932A +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
LOC126861365, TBCEL-TECTA
+1 more
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
TBCEL-TECTA, TECTA
(R1033W +1 more)
Single nucleotide variant
(missense variant)
Nonsyndromic genetic hearing loss
GLikely benign
TECTA, TBCEL-TECTA
(G1106D +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(D1136H +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 12
+3 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(V1165M +1 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
TBCEL-TECTA, TECTA
(G1335E +1 more)
Single nucleotide variant
(missense variant)
Nonsyndromic genetic hearing loss
GLikely benign
TBCEL-TECTA, TECTA
(C1352Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBCEL-TECTA, TECTA
(W1362* +1 more)
Single nucleotide variant
(nonsense)
Nonsyndromic genetic hearing loss
GPathogenic
TECTA, TBCEL-TECTA
(G1416R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBCEL-TECTA, TECTA
(L1439I +1 more)
Single nucleotide variant
(missense variant)
TECTA-related condition
+4 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(P1461L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBCEL-TECTA, TECTA
(N1601S +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
TECTA, TBCEL-TECTA
(G1627R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBCEL-TECTA, TECTA
(S1671L +1 more)
Single nucleotide variant
(missense variant)
TECTA-related condition
+4 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(S1724N +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign
TECTA, TBCEL-TECTA
(T1866M +1 more)
Single nucleotide variant
(missense variant)
Rare genetic deafness
+5 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(Y1942* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
TBCEL-TECTA, TECTA
(R2021H +1 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
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