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Links from MedGen

Items: 1 to 100 of 107

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TMC1
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 7
GPathogenic
TMC1
(V291fs)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 7
GPathogenic
TMC1
(Y287H)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 7
GUncertain significance
TMC1
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
TMC1
(G417E)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 7
GPathogenic
TMC1
(Q584*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
TMC1
(S668R)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 7
GUncertain significance
TMC1
Single nucleotide variant
(splice donor variant)
Autosomal recessive nonsyndromic hearing loss 7
GLikely pathogenic
TMC1
(Q395fs)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 7
GPathogenic
TMC1
(Y188*)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 7
GLikely pathogenic
TMC1
(G182V)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 7
GUncertain significance
TMC1
(P169A)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 7
GUncertain significance
TMC1
(N50fs)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 7
GPathogenic
TMC1
(M589V)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 7
GUncertain significance
TMC1
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 7
GUncertain significance
OTOA
(M126V +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 7
GUncertain significance
OTOA
(F197fs +2 more)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 22
GPathogenic
TMC1
(I266T)
Single nucleotide variant
(missense variant)
Nonsyndromic genetic hearing loss
GLikely pathogenic
TMC1
(E517D)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 7
GUncertain significance
TMC1
(N199S)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 7
GUncertain significance
TMC1
(P274L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TMC1
(S668G)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 7
GLikely pathogenic
TMC1
(L401I)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 7
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
(K721N)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 7
GUncertain significance
TMC1
(N199I)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 7
GUncertain significance
TMC1
(E740*)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 7
GPathogenic
TMC1
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive nonsyndromic hearing loss 7
GPathogenic
TMC1
(C420Y)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 7
+1 more
GPathogenic/Likely pathogenic
TMC1
(A726V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
TMC1
(Y381*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
TMC1
(N407fs)
Duplication
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 7
GPathogenic
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
Autosomal recessive nonsyndromic hearing loss 7
GPathogenic
Autosomal recessive nonsyndromic hearing loss 7
GPathogenic
Autosomal recessive nonsyndromic hearing loss 7
GPathogenic
Autosomal recessive nonsyndromic hearing loss 7
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
(P511L)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 7
GPathogenic
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
(V372M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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
(R77fs)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 7
GPathogenic
TMC1
(V6fs)
Duplication
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 7
GPathogenic
TMC1
(Y381N)
Single nucleotide variant
(missense variant)
Rare genetic deafness
+2 more
GConflicting classifications of pathogenicity
TMC1
(S647P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
TMC1
(M413fs)
Deletion
(frameshift variant)
not provided
+1 more
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
(P511H)
Single nucleotide variant
(missense variant)
not specified
+1 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
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