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Links from MedGen

Items: 34

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TULP1
(L350V +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 14
GUncertain significance
TULP1
Single nucleotide variant
(splice acceptor variant)
Retinitis pigmentosa 14
GLikely pathogenic
TULP1
(T55fs)
Duplication
(frameshift variant)
Retinitis pigmentosa 14
+1 more
GPathogenic/Likely pathogenic
TULP1
(K485Q +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 14
GUncertain significance
TULP1
Indel
(splice acceptor variant)
Retinitis pigmentosa
+1 more
GConflicting classifications of pathogenicity
TULP1
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 15
+2 more
GBenign
TULP1
Deletion
Retinitis pigmentosa 14
GPathogenic
TULP1
(P303T +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 14
GPathogenic
TULP1
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 15
+2 more
GBenign
TULP1
(G63*)
Single nucleotide variant
(nonsense)
TULP1-related disorder
+2 more
GPathogenic
TULP1
(R258Q +1 more)
Single nucleotide variant
(missense variant)
TULP1-related disorder
+2 more
GPathogenic/Likely pathogenic
TULP1
(Y467fs +1 more)
Duplication
(frameshift variant)
Retinitis pigmentosa 14
GLikely pathogenic
TULP1
(G286D +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 14
GUncertain significance
TULP1
(G310R +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 14
+1 more
GConflicting classifications of pathogenicity
TULP1
(R429Q +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 14
+1 more
GPathogenic
PRPF8
Single nucleotide variant
(splice donor variant)
Retinitis pigmentosa 14
GUncertain significance
TULP1
(K274fs +1 more)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
TULP1
(Q248* +1 more)
Single nucleotide variant
(nonsense)
Abnormality of the eye
+3 more
GPathogenic
TULP1
(R311W +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
TULP1
(T67R)
Single nucleotide variant
(missense variant +1 more)
Leber congenital amaurosis 15
+5 more
GBenign
TULP1
(E117K)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TULP1
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
TULP1
(I259T +1 more)
Single nucleotide variant
(missense variant)
not specified
+6 more
GBenign
TULP1
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 14
+5 more
GPathogenic/Likely pathogenic
TULP1
Single nucleotide variant
(splice donor variant)
Retinitis pigmentosa 14
+3 more
GPathogenic
TULP1
(K489R +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
TULP1
(K261N +1 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 1
+6 more
GBenign
TULP1
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
TULP1
(L451fs +1 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
TULP1
(R482W +1 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
TULP1
(F382S +1 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+1 more
GPathogenic
TULP1
(I459K +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
TEAD3, TULP1
(F491L +1 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+2 more
GPathogenic/Likely pathogenic
TULP1
(R420P +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
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