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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TMPRSS3
(G272R +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 8
GUncertain significance
TMPRSS3
(A306T +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
TMPRSS3
(H130Q +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
TMPRSS3
(R109W)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
TMPRSS3
(P45T)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 8
GUncertain significance
TMPRSS3
(R16*)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 8
+1 more
GPathogenic/Likely pathogenic
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