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Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TMC1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
TMC1
(E83del)
Microsatellite
(inframe_deletion)
Nonsyndromic Hearing Loss, Dominant
+3 more
GBenign/Likely benign
TMC1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
TMC1
(E178D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TMC1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
TMC1
(Y277C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TMC1
(D308E)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 36
+2 more
GConflicting classifications of pathogenicity
TMC1
(T319S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
TMC1
(V372M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TMC1
(R389*)
Single nucleotide variant
(nonsense)
Rare genetic deafness
+1 more
GPathogenic
TMC1
(R445C)
Single nucleotide variant
(missense variant)
Rare genetic deafness
+5 more
GConflicting classifications of pathogenicity
TMC1
(I541T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TMC1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
TMC1
(A726V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
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