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Links from MedGen

Items: 77

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
USH2A
Single nucleotide variant
(intron variant)
Autosomal dominant nonsyndromic hearing loss 36
GLikely pathogenic
USH2A
(L4655P)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 36
GUncertain significance
USH2A
(C3575F)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 36
GLikely pathogenic
USH2A
(I3532fs)
Deletion
(frameshift variant)
Autosomal dominant nonsyndromic hearing loss 36
GPathogenic
TMC1
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 36
GPathogenic
TMC1
(W482R)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 36
GUncertain significance
TMC1
(F419S)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 36
GUncertain significance
TMC1
(P659T)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 36
GUncertain significance
TMC1
(R445H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TMC1
(Y323C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
TMC1
(A438T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TMC1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 7
+1 more
GUncertain significance
TMC1
(N671D)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 7
+1 more
GUncertain significance
TMC1
Single nucleotide variant
(5 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 36
+1 more
GConflicting classifications of pathogenicity
TMC1
Single nucleotide variant
(5 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 7
+1 more
GUncertain significance
TMC1
Single nucleotide variant
(5 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 36
+1 more
GUncertain significance
TMC1
Single nucleotide variant
(5 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 7
+1 more
GUncertain significance
TMC1
Single nucleotide variant
(5 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 7
+1 more
GUncertain significance
TMC1
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 36
+1 more
GConflicting classifications of pathogenicity
TMC1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 7
+1 more
GUncertain significance
TMC1
(V532I)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 7
+1 more
GUncertain significance
TMC1
(K473Q)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 36
+1 more
GUncertain significance
TMC1
(E16K)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
TMC1
(R759H)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 7
+1 more
GUncertain significance
TMC1
(A749S)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 36
+2 more
GUncertain significance
TMC1
(G326S)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 36
+1 more
GUncertain significance
TMC1
(E570K)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
TMC1
(A726V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
TMC1
(K125Q)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 36
+2 more
GUncertain significance
TMC1
Single nucleotide variant
(splice donor variant)
not provided
+4 more
GPathogenic
TMC1
(F313S)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 7
+1 more
GUncertain significance
TMC1
(S208R)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 7
+1 more
GUncertain significance
TMC1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 7
+1 more
GConflicting classifications of pathogenicity
TMC1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 7
+2 more
GConflicting classifications of pathogenicity
TMC1
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TMC1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 7
+1 more
GUncertain significance
TMC1
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 36
+1 more
GUncertain significance
TMC1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 7
+2 more
GConflicting classifications of pathogenicity
TMC1
(K735T)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 36
+1 more
GUncertain significance
TMC1
(V537I)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 7
+2 more
GConflicting classifications of pathogenicity
TMC1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TMC1
Single nucleotide variant
(synonymous variant)
TMC1-related condition
+3 more
GConflicting classifications of pathogenicity
TMC1
(G304R)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 7
+1 more
GUncertain significance
TMC1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TMC1
(A235S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TMC1
(R158H)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 7
+4 more
GUncertain significance
TMC1
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 7
+2 more
GUncertain significance
TMC1
Single nucleotide variant
(5 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 7
+1 more
GConflicting classifications of pathogenicity
TMC1
Single nucleotide variant
(5 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 7
+1 more
GBenign
TMC1
Single nucleotide variant
(5 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 36
+1 more
GUncertain significance
TMC1
Single nucleotide variant
(5 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 7
+1 more
GUncertain significance
TMC1
Single nucleotide variant
(5 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 7
+1 more
GBenign
TMC1
Single nucleotide variant
(5 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 36
+1 more
GUncertain significance
TMC1
Single nucleotide variant
(5 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 7
+1 more
GBenign
TMC1
Single nucleotide variant
(5 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 7
+1 more
GBenign/Likely benign
TMC1
(T319S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
TMC1
(D308E)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 36
+2 more
GConflicting classifications of pathogenicity
TMC1
(M413fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
TMC1
(M418K)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 36
GPathogenic
TMC1
(R445C)
Single nucleotide variant
(missense variant)
Rare genetic deafness
+5 more
GConflicting classifications of pathogenicity
TMC1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
TMC1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
TMC1
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TMC1
(R759C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TMC1
(V254I)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
TMC1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
TMC1
(R141W)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
TMC1
(M113I)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
TMC1
(E81K)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign
TMC1
(Y715F)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
TMC1
Single nucleotide variant
(intron variant)
Nonsyndromic Hearing Loss, Dominant
+3 more
GConflicting classifications of pathogenicity
TMC1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
TMC1
(I49L)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
TMC1
(M486T)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
TMC1
(D572H)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 36
GPathogenic
TMC1
(R34*)
Single nucleotide variant
(nonsense)
Rare genetic deafness
+3 more
GPathogenic
TMC1
(D572N)
Single nucleotide variant
(missense variant)
Rare genetic deafness
+2 more
GPathogenic/Likely pathogenic
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