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Links from MedGen

Items: 1 to 100 of 141

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TMPRSS3
(M128T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
GJB3
(L218fs)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 8
GUncertain significance
TMPRSS3
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 8
GUncertain significance
TMPRSS3
Microsatellite
(intron variant)
Autosomal recessive nonsyndromic hearing loss 8
GUncertain significance
TMPRSS3
(D100fs)
Deletion
(frameshift variant +1 more)
Autosomal recessive nonsyndromic hearing loss 8
GLikely pathogenic
TMPRSS3
(C207Y +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 8
GUncertain significance
TMPRSS3
(L63R)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 8
GLikely pathogenic
TMPRSS3
(G273V +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 8
GLikely pathogenic
TMPRSS3
(A306V +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 8
+1 more
GLikely pathogenic
TMPRSS3
(I444T +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 8
GLikely pathogenic
TMPRSS3
(D334fs +1 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
TMPRSS3
(H130Q +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
TMPRSS3
(P45T)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 8
GUncertain significance
TMPRSS3
(G272R +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 8
GUncertain significance
TMPRSS3
(A128V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TMPRSS3
(T121M +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 8
+1 more
GPathogenic/Likely pathogenic
TMPRSS3
(R16*)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 8
+1 more
GPathogenic/Likely pathogenic
TMPRSS3
(P50fs)
Duplication
(frameshift variant)
not provided
GPathogenic
TMPRSS3
(L123fs +1 more)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 8
GPathogenic
TMPRSS3
(R216C +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
TMPRSS3
(K134* +1 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 8
+1 more
GPathogenic
TMPRSS3
(V199M +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 8
+1 more
GConflicting classifications of pathogenicity
TMPRSS3
Single nucleotide variant
(stop lost)
not provided
+2 more
GConflicting classifications of pathogenicity
TMPRSS3
(C280R +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 8
+1 more
GPathogenic
TMPRSS3
(H130Q +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 8
GLikely pathogenic
TMPRSS3
(I54T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
TMPRSS3
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 8
GUncertain significance
TMPRSS3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TMPRSS3
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 8
+1 more
GUncertain significance
TMPRSS3
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 8
GUncertain significance
TMPRSS3
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 8
GUncertain significance
TMPRSS3
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 8
GUncertain significance
TMPRSS3
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TMPRSS3
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive nonsyndromic hearing loss 8
+1 more
GConflicting classifications of pathogenicity
TMPRSS3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TMPRSS3
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TMPRSS3
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TMPRSS3
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TMPRSS3
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 8
GUncertain significance
TMPRSS3
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 8
+1 more
GUncertain significance
TMPRSS3
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 8
GUncertain significance
TMPRSS3
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 8
GUncertain significance
TMPRSS3
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 8
GUncertain significance
TMPRSS3
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 8
GUncertain significance
TMPRSS3
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TMPRSS3
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GLikely benign
TMPRSS3
Single nucleotide variant
(5 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 8
GUncertain significance
TMPRSS3
(L159M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TMPRSS3
(G208A +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TMPRSS3
(T213M +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 8
GUncertain significance
TMPRSS3
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 8
GUncertain significance
TMPRSS3
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 8
GUncertain significance
TMPRSS3
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 8
GUncertain significance
TMPRSS3
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 8
GUncertain significance
TMPRSS3
(M383K +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TMPRSS3
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive nonsyndromic hearing loss 8
GPathogenic
TMPRSS3
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign/Likely benign
TMPRSS3
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TMPRSS3
(R435C +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 8
+2 more
GConflicting classifications of pathogenicity
TMPRSS3
(W413* +2 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 8
GUncertain significance
TMPRSS3
Single nucleotide variant
(splice donor variant)
Autosomal recessive nonsyndromic hearing loss 8
GPathogenic
TMPRSS3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TMPRSS3
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive nonsyndromic hearing loss 8
+1 more
GPathogenic/Likely pathogenic
TMPRSS3
(C194fs +1 more)
Duplication
(frameshift variant)
Rare genetic deafness
+3 more
GPathogenic/Likely pathogenic
TMPRSS3
(E104K)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 8
+2 more
GPathogenic/Likely pathogenic
TMPRSS3
(G377S +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TMPRSS3
(R166W +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 8
+2 more
GConflicting classifications of pathogenicity
TMPRSS3
(G94R)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GUncertain significance
TMPRSS3
(V116M)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 8
+1 more
GPathogenic/Likely pathogenic
TMPRSS3
(C194* +1 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 8
GPathogenic
TMPRSS3
(R106C)
Single nucleotide variant
(missense variant +1 more)
Hearing impairment
+3 more
GPathogenic/Likely pathogenic
TMPRSS3
Single nucleotide variant
not provided
+1 more
GUncertain significance
TMPRSS3
Single nucleotide variant
Autosomal recessive nonsyndromic hearing loss 8
+1 more
GUncertain significance
TMPRSS3
Single nucleotide variant
Autosomal recessive nonsyndromic hearing loss 8
GUncertain significance
TMPRSS3
Single nucleotide variant
(5 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 8
+1 more
GConflicting classifications of pathogenicity
TMPRSS3
Single nucleotide variant
(5 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 8
GUncertain significance
TMPRSS3
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 8
GUncertain significance
TMPRSS3
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TMPRSS3
(P6L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TMPRSS3
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 8
+1 more
GConflicting classifications of pathogenicity
TMPRSS3
(Y239H +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 8
+1 more
GConflicting classifications of pathogenicity
TMPRSS3
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 8
GUncertain significance
TMPRSS3
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 8
GUncertain significance
TMPRSS3
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 8
+1 more
GLikely benign
TMPRSS3
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
TMPRSS3
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 8
GUncertain significance
TMPRSS3
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 8
+1 more
GBenign/Likely benign
TMPRSS3
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GUncertain significance
TMPRSS3
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 8
GUncertain significance
TMPRSS3
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 8
GUncertain significance
TMPRSS3
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 8
GUncertain significance
TMPRSS3
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 8
+1 more
GLikely benign
TMPRSS3
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 8
GUncertain significance
TMPRSS3
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 8
GUncertain significance
TMPRSS3
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 8
GUncertain significance
TMPRSS3
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 8
GUncertain significance
TMPRSS3
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 8
GUncertain significance
TMPRSS3
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 8
+1 more
GConflicting classifications of pathogenicity
TMPRSS3
(T391M +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 8
+3 more
GUncertain significance
TMPRSS3
(F71S)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
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