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Items: 1 to 100 of 153

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TBCEL-TECTA, TECTA
(A16T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, 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)
not provided
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
(V360A +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
(P119T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
(V152L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
(D173N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, TECTA
(Y176C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(T192M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, TECTA
(M206T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, TECTA
(T536I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, TECTA
(T546I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, TECTA
(E548K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(K571E +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(R268Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, TECTA
(R588Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(G270R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
(G589A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, TECTA
(E271Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(V281I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(R284C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
TBCEL-TECTA, TECTA
(Y293C +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
TBCEL-TECTA, 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
TBCEL-TECTA, TECTA
(L409F +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TECTA, TBCEL-TECTA
(T431S +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(R474H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
(D500N)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
TBCEL-TECTA, TECTA
(T508P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
(T530S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, TECTA
(V551M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(D553E +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
(I580V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
(I582T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, TECTA
(S599T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
(V605G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, TECTA
(D612N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
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
TBCEL-TECTA, TECTA
(S959T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, TECTA
(P646R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, 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)
Inborn genetic diseases
+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
TBCEL-TECTA, TECTA
(K1075R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, TECTA
(P1082T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC126861365, TBCEL-TECTA
+1 more
(H1120R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC126861365, TBCEL-TECTA
+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)
not provided
+1 more
GUncertain significance
LOC126861365, TBCEL-TECTA
+1 more
(A1175T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
LOC126861365, TBCEL-TECTA
+1 more
(A856S +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
LOC126861365, TBCEL-TECTA
+1 more
(T868M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC126861365, TBCEL-TECTA
+1 more
(E1195Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC126861365, TBCEL-TECTA
+1 more
(T880A +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
LOC126861365, TBCEL-TECTA
+1 more
(L892M)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
LOC126861365, TBCEL-TECTA
+1 more
(S1219L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, TECTA
+1 more
(R1228C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
LOC126861365, TBCEL-TECTA
+1 more
(R909H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
LOC126861365, TBCEL-TECTA
+1 more
(N916K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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
LOC126861365, TBCEL-TECTA
+1 more
(G1291E +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)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(G1022S +1 more)
Single nucleotide variant
(missense variant)
TECTA-related disorder
+2 more
GUncertain significance
TBCEL-TECTA, TECTA
(E1035G +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
(N1367S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
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
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
(Y1427H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, TECTA
(R1150Q +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
(V1482M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, TECTA
(V1207M +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
TBCEL-TECTA, TECTA
(V1218I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, TECTA
(R1231Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
(S1551N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, TECTA
(N1235S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(N1245S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, TECTA
(G1246S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
(G1282V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
(K1609M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, TECTA
(N1306I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBCEL-TECTA, TECTA
(D1334N +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 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)
Inborn genetic diseases
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
(A1337V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
(G1356E +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
TBCEL-TECTA, TECTA
(Y1684D +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TBCEL-TECTA, TECTA
(P1706L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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