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Links from MedGen

Items: 1 to 100 of 173

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 21
GUncertain significance
LOC126861365, TBCEL-TECTA
+1 more
(K1139* +1 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 21
GLikely pathogenic
TBCEL-TECTA, TECTA
(V415L +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 21
GUncertain significance
TECTA, TBCEL-TECTA
(P1914R +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 21
GUncertain significance
TECTA, TBCEL-TECTA
(G1020S +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 21
GUncertain significance
TBCEL-TECTA, TECTA
(R586* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 21
GUncertain significance
TBCEL-TECTA, TECTA
(E2035* +1 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 21
GPathogenic
TBCEL-TECTA, TECTA
(Y783C +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 12
+2 more
GUncertain significance
TBCEL-TECTA, TECTA
(Q569* +1 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 21
GPathogenic
LOC126861365, TBCEL-TECTA
+1 more
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 21
GUncertain significance
TBCEL-TECTA, TECTA
(N34fs +1 more)
Deletion
(frameshift variant)
Autosomal dominant nonsyndromic hearing loss 12
+2 more
GPathogenic/Likely pathogenic
TBCEL-TECTA, TECTA
(L1394M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBCEL-TECTA, TECTA
Single nucleotide variant
(intron variant)
Autosomal dominant nonsyndromic hearing loss 12
+2 more
GBenign
TBCEL-TECTA, TECTA
Single nucleotide variant
(intron variant)
Autosomal dominant nonsyndromic hearing loss 12
+2 more
GBenign
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 21
+2 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(V551M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TECTA, TBCEL-TECTA
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GUncertain significance
TBCEL-TECTA, TECTA
(T126I)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 12
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(K1754E)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 21
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 21
+2 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(D1532N)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 12
+2 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 21
+2 more
GConflicting classifications of pathogenicity
LOC126861365, TBCEL-TECTA
+1 more
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 21
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
(Q776L)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 12
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
(D500N)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 12
+2 more
GUncertain significance
TBCEL-TECTA, TECTA
(C294R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
TBCEL-TECTA, TECTA
(R284C)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
TBCEL-TECTA, TECTA
(R269G)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 21
+1 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(K1432R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(K1192T)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 12
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
(K741R)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 12
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 12
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 12
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 12
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
(Y1960H)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 12
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 12
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
(E1788K)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 12
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
(V1634A)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
TECTA, TBCEL-TECTA
(A1390T)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 12
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
+1 more
(L892M)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 12
+3 more
GUncertain significance
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 12
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 12
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 12
+3 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(R1388H)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 12
+2 more
GConflicting classifications of pathogenicity
LOC126861365, TBCEL-TECTA
+1 more
(A967E)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 21
GUncertain significance
TBCEL-TECTA, TECTA
(T83M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 21
+3 more
GConflicting classifications of pathogenicity
LOC126861365, TBCEL-TECTA
+1 more
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 21
+3 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 21
+3 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(R1956* +1 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 21
GPathogenic
TBCEL-TECTA, TECTA
(G416fs +1 more)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 21
+1 more
GPathogenic/Likely pathogenic
LOC126861365, TBCEL-TECTA
+1 more
(C912* +1 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 21
+1 more
GPathogenic/Likely pathogenic
TBCEL-TECTA, TECTA
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 21
+1 more
GPathogenic/Likely pathogenic
TBCEL-TECTA, TECTA
(V281fs +1 more)
Insertion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 21
+1 more
GPathogenic/Likely pathogenic
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(W1362* +1 more)
Single nucleotide variant
(nonsense)
Nonsyndromic genetic hearing loss
GPathogenic
TBCEL-TECTA, TECTA
(D2034N +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 12
+2 more
GUncertain significance
TBCEL-TECTA, TECTA
(T1354I +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 21
+2 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(C1285S +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 12
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
(P1248L +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 21
+4 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(C1619* +1 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 21
GPathogenic
TBCEL-TECTA, TECTA
(T2153M +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(S2143L +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(R2101W +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 12
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
(D2046N +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 12
+2 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 12
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
(A1970T +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 12
+1 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 12
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
(P1924T +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 12
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
(M1915L +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
TBCEL-TECTA, TECTA
Single nucleotide variant
(intron variant)
Autosomal dominant nonsyndromic hearing loss 12
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
Single nucleotide variant
(intron variant)
Autosomal dominant nonsyndromic hearing loss 12
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 12
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
(I1850M +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 12
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
(I1832M +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 12
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
(Y1705C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
TBCEL-TECTA, TECTA
(M1697I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
TBCEL-TECTA, TECTA
Single nucleotide variant
(intron variant)
Autosomal dominant nonsyndromic hearing loss 12
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 21
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 21
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
(I1574V +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(S1481G +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 12
+3 more
GUncertain significance
TBCEL-TECTA, TECTA
(T1446R +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 12
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
(D1430G +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 12
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
(C1402S +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
TBCEL-TECTA, TECTA
(T1354S +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 12
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
(M1254V +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 12
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(R1243H +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 12
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
(R1186W +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(V1171M +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 12
+3 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 12
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 12
+1 more
GUncertain significance
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