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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TBCEL-TECTA, TECTA
(I573T +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 12
GUncertain significance
TBCEL-TECTA, TECTA
(F439S +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 12
GUncertain significance
TBCEL-TECTA, TECTA
(R491L +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 12
GUncertain significance
LOC126861365, TBCEL-TECTA
+1 more
(T815M +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 12
+1 more
GConflicting classifications of pathogenicity
LOC126861365, TBCEL-TECTA
+1 more
(E950K +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 12
GUncertain significance
TBCEL-TECTA, TECTA
(F1498L +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 12
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
(V1545I +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(G1839S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
BACE1, BACE1-AS
+176 more
Copy number gain
not provided
GPathogenic
ARHGAP32, ARHGEF12
+177 more
Copy number gain
not provided
GPathogenic
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