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Links from MedGen

Items: 70

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TNC
(P658H)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 56
GUncertain significance
TNC
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 56
GPathogenic
TNC
(E731A)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 56
GUncertain significance
TNC
(G1406A +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 56
GUncertain significance
TNC
(V1716I +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 56
GUncertain significance
TNC
(G335A)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 56
GUncertain significance
TNC
(E1994G +1 more)
Single nucleotide variant
(missense variant)
TNC-related condition
+1 more
GUncertain significance
TNC
(R541H)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 56
GUncertain significance
TNC
(K812E)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 56
GUncertain significance
TNC
Single nucleotide variant
(intron variant)
Autosomal dominant nonsyndromic hearing loss 56
+1 more
GBenign
TNC
(Q680R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
TNC
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
TNC
Single nucleotide variant
(intron variant)
Autosomal dominant nonsyndromic hearing loss 56
+1 more
GBenign
TNC
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
TNC
(E2008Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
TNC
(Q539R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
TNC
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
TNC
Single nucleotide variant
(intron variant)
Autosomal dominant nonsyndromic hearing loss 56
+1 more
GBenign
TNC
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
TNC
(I1677L)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 56
+1 more
GBenign
TNC
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
TNC
(G932A)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 56
GUncertain significance
TNC
(R747W)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
TNC
(C527S)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 56
GUncertain significance
TNC
(E21K)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
TNC
Deletion
(intron variant)
Autosomal dominant nonsyndromic hearing loss 56
GUncertain significance
TNC
(V2167I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
TNC
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
TNC
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
TNC
(G792C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TNC
(V605I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
TNC
(S1125R)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 56
+1 more
GBenign
TNC
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 56
+1 more
GBenign
TNC
(G261S)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 56
+1 more
GBenign
TNC
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
TNC
(G213S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
TNC
(R503K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
TNC
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
TNC
(D736G)
Single nucleotide variant
(missense variant)
TNC-related condition
+2 more
GBenign
TNC
(R1118Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
TNC
Single nucleotide variant
(synonymous variant)
TNC-related condition
+2 more
GBenign/Likely benign
TNC
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 56
+1 more
GBenign
TNC
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
TNC
Single nucleotide variant
(synonymous variant)
TNC-related condition
+2 more
GBenign/Likely benign
TNC
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
TNC
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
TNC
(V548M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
TNC
(R1698Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
TNC
(R707T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
TNC
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
TNC
(R1698P)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 56
+2 more
GBenign/Likely benign
TNC
(N441S)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 56
+1 more
GBenign/Likely benign
TNC
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
TNC
(N2161S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
TNC
(A1096T)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 56
+1 more
GBenign
TNC, LOC126860741
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 56
+1 more
GBenign/Likely benign
TNC
(E780D)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 56
GLikely benign
TNC
(Q2165R)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
TNC
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
TNC
(A1781T)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 56
+1 more
GBenign
TNC
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 56
+1 more
GBenign
TNC
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 56
+2 more
GBenign
DELEC1, PAPPA
+2 more
Duplication
Autosomal dominant nonsyndromic hearing loss 56
GUncertain significance
TNC
(N297S)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 56
+3 more
GUncertain significance
TNC
(I874V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
TNC
(G210S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
TNC
(T987M)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 56
+1 more
GUncertain significance
TNC
(R448G)
Single nucleotide variant
(missense variant)
TNC-related condition
+3 more
GBenign/Likely benign
TNC
(T1796S)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 56
GPathogenic
TNC
(V1773M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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