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Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TTLL5
(E11A)
Single nucleotide variant
(missense variant)
Retinal dystrophy
GUncertain significance
TTLL5
(T72M)
Single nucleotide variant
(missense variant)
Retinal dystrophy
GLikely pathogenic
TTLL5
(N137I)
Single nucleotide variant
(missense variant)
Retinal dystrophy
GUncertain significance
TTLL5
(P176S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TTLL5
(E203D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TTLL5
(G244A)
Single nucleotide variant
(missense variant)
Retinal dystrophy
GUncertain significance
TTLL5
(K275R)
Single nucleotide variant
(missense variant)
not provided
GBenign
TTLL5
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
TTLL5
(S297G)
Single nucleotide variant
(missense variant)
Optic atrophy
GUncertain significance
TTLL5
(S372P)
Single nucleotide variant
(missense variant)
Retinal dystrophy
GUncertain significance
TTLL5
(R419G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TTLL5
(R420*)
Single nucleotide variant
(nonsense)
Retinal dystrophy
+1 more
GPathogenic
TTLL5
(I485L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TTLL5
(M505V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TTLL5
(D521*)
Duplication
(nonsense)
Central areolar choroidal dystrophy
+1 more
GPathogenic
TTLL5
(E543K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
TTLL5
(R677*)
Single nucleotide variant
(nonsense)
Cone-rod dystrophy 19
+2 more
GPathogenic
TTLL5
(R677Q)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+1 more
GUncertain significance
TTLL5
(E786V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TTLL5
(R962L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TTLL5
(R1035Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TTLL5
(L1053R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TTLL5
(A1266T)
Single nucleotide variant
(missense variant)
Retinal dystrophy
GUncertain significance
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