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Items: 40

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TEK
(S17C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TEK
(E53V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TEK
(V78M)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TEK
(W82R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TEK
(V86I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TEK
(E91Q)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TEK
(E103D)
Single nucleotide variant
(missense variant +1 more)
TEK-related condition
+3 more
GConflicting classifications of pathogenicity
TEK
(V106I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TEK
(N140K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TEK
(P183L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TEK
(G270E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TEK
(M322V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TEK
(L338I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TEK
(P374T +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TEK
(P270A +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TEK
(K288Q +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TEK
(I463V +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TEK
(N464H +2 more)
Single nucleotide variant
(missense variant)
Multiple cutaneous and mucosal venous malformations
+1 more
GConflicting classifications of pathogenicity
TEK
(E462K +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TEK
(A474S +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TEK
(Q579H +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TEK
(T513A +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TEK
(I670V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TEK
(R526C +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TEK
(R630H +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TEK
(H684Y +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TEK
(E672D +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TEK
(N575S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TEK
(P738L +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TEK
(G596R +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TEK
(I768M +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TEK
(E746G +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TEK
(K660E +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TEK
(I667V +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TEK
(H864R +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TEK
(A944T +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TEK
(R906G +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TEK
(A978S +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
TEK
(P890A +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TEK
(F1084V +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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