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Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TULP1
(F475fs +1 more)
Deletion
(frameshift variant)
not provided
+1 more
GUncertain significance
TULP1
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 14
+5 more
GPathogenic/Likely pathogenic
TULP1
Single nucleotide variant
(intron variant)
Retinal dystrophy
GUncertain significance
TULP1
Single nucleotide variant
(splice donor variant)
not provided
+3 more
GPathogenic
TULP1
(Q492H +1 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy
GUncertain significance
TEAD3, TULP1
(F491L +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 14
+3 more
GPathogenic/Likely pathogenic
TULP1
(V430I +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TULP1
(D391N +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
TULP1
(R387* +1 more)
Single nucleotide variant
(nonsense)
Retinal dystrophy
+1 more
GPathogenic/Likely pathogenic
TULP1
(R363L +1 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy
GUncertain significance
TULP1
Single nucleotide variant
(intron variant)
Retinal dystrophy
GUncertain significance
TULP1
(G385R +1 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy
GLikely pathogenic
TULP1
(R308Q +1 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+2 more
GConflicting classifications of pathogenicity
TULP1
(N296K +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
TULP1
(G339V +1 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+1 more
GConflicting classifications of pathogenicity
TULP1
(Y271S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TULP1
(K274fs +1 more)
Deletion
(frameshift variant)
Retinal dystrophy
+2 more
GPathogenic/Likely pathogenic
TULP1
(P176fs +1 more)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic
TULP1
(P84fs)
Deletion
(frameshift variant +1 more)
Retinal dystrophy
GLikely pathogenic
TULP1
(R34*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
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