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Items: 22

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TULP1
(A524T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TULP1
Single nucleotide variant
(intron variant)
Retinal dystrophy
+5 more
GPathogenic/Likely pathogenic
TULP1
(A496T +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
TULP1
(I459T +1 more)
Single nucleotide variant
(missense variant)
TULP1-related condition
+2 more
GConflicting classifications of pathogenicity
TULP1
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
TULP1
(R440Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TULP1
(P436A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TULP1
(M421L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TULP1
(R420H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TULP1
(R390C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TULP1
(Y321D +1 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
TULP1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TULP1
(G266V +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
TULP1
(K261N +1 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+6 more
GBenign
TULP1
(I259T +1 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+6 more
GBenign
TULP1
(P189fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
TULP1
(R180H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TULP1
Deletion
(inframe_deletion)
TULP1-related condition
+2 more
GBenign/Likely benign
TULP1
(E122D +1 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
TULP1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GConflicting classifications of pathogenicity
TULP1
(T67R)
Single nucleotide variant
(missense variant +1 more)
not specified
+5 more
GBenign
TULP1
(P62S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
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