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Items: 87

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TECTA, TBCEL-TECTA
(R25T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, TECTA
(M347I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, TECTA
(P373A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, TECTA
(N76S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, TECTA
(Y176C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(M206T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, TECTA
(K571E +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(G589A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, TECTA
(R284C)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
TECTA, TBCEL-TECTA
(T321P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, TECTA
(P359T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TECTA, TBCEL-TECTA
(T431S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(T508P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
TBCEL-TECTA, TECTA
(T530S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, TECTA
(L573V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(V605G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, TECTA
(T625M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, TECTA
(T947A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TECTA, TBCEL-TECTA
(T660A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, TECTA
(E663D +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
(N670T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, TECTA
(A730V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, TECTA
(R746H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, TECTA
(I1071T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TECTA, TBCEL-TECTA
(K1075R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TECTA, LOC126861365
+1 more
(S803L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LOC126861365, TBCEL-TECTA
+1 more
(V822M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
LOC126861365, TBCEL-TECTA
+1 more
(I1154T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
LOC126861365, TBCEL-TECTA
+1 more
(N1172S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC126861365, TBCEL-TECTA
+1 more
(A1175T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
+1 more
(A856S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
LOC126861365, TBCEL-TECTA
+1 more
(T868M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, TECTA
+1 more
(L892M)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 12
+3 more
GUncertain significance
LOC126861365, TBCEL-TECTA
+1 more
(S1219L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC126861365, TBCEL-TECTA
+1 more
(R1228C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
LOC126861365, TBCEL-TECTA
+1 more
(R937C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC126861365, TBCEL-TECTA
+1 more
(Q1264H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC126861365, TBCEL-TECTA
+1 more
(G1267D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, TECTA
(T999I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, TECTA
(V1010M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(G1022S +1 more)
Single nucleotide variant
(missense variant)
TECTA-related condition
+2 more
GUncertain significance
TECTA, TBCEL-TECTA
(E1035G +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
(G1087S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, TECTA
(R1095C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, TECTA
(Y1427H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, TECTA
(D1151N +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(W1157C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, TECTA
(V1207M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
TBCEL-TECTA, TECTA
(A1656T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(A1337G +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
(A1337V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
(Y1684D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(H1423Y +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, TECTA
(G1492S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TECTA, TBCEL-TECTA
(A1507T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, TECTA
(D1841H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, TECTA
(A1855V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, TECTA
(I1574V +1 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(K1899N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, TECTA
(S1593N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, TECTA
(P1640L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
(V1964M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, TECTA
(A1662S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(S1671P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, TECTA
(M1697I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
TBCEL-TECTA, TECTA
(Y1705C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
TBCEL-TECTA, TECTA
(L1711F +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(G1721S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, TECTA
(G2046S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, TECTA
(R2056H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
(S1743P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, TECTA
(T1866M +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 21
+5 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(N1893S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, TECTA
(I2218V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TECTA, TBCEL-TECTA
(I1931V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TECTA, TBCEL-TECTA
(K1933R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, TECTA
(I1997T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, TECTA
(I2323V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, TECTA
(S2051P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, TECTA
(E2069Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
(K2071E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, TECTA
(D2400H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, TECTA
(E2116D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, TECTA
(S2120N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
(M2128V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
TBCEL-TECTA, TECTA
(W2133R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, TECTA
(T2448K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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