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Items: 1 to 100 of 787

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC110121220, LOC110121246
+2579 more
Copy number gain
See cases
GPathogenic
TULP1
Single nucleotide variant
(3 prime UTR variant)
Leber congenital amaurosis 15
+1 more
GBenign
TULP1
Single nucleotide variant
(3 prime UTR variant)
Leber congenital amaurosis 15
+1 more
GUncertain significance
TULP1
Single nucleotide variant
(3 prime UTR variant)
Leber congenital amaurosis 15
+1 more
GUncertain significance
TULP1
Deletion
(3 prime UTR variant)
Leber congenital amaurosis
+1 more
GLikely benign
TULP1
Single nucleotide variant
(3 prime UTR variant)
Leber congenital amaurosis 15
+1 more
GUncertain significance
TULP1
Single nucleotide variant
(3 prime UTR variant)
Leber congenital amaurosis 15
+1 more
GBenign
TULP1
Single nucleotide variant
(3 prime UTR variant)
Retinitis pigmentosa
+1 more
GUncertain significance
TULP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TULP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TULP1
(K485Q +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 14
GUncertain significance
TULP1
(K485E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TULP1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
TULP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TULP1
(F482L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TULP1
(S481G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TULP1
(S480P +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
GUncertain significance
TULP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TULP1
(A531T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TULP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TULP1
Duplication
(inframe_insertion)
Leber congenital amaurosis 15
GPathogenic
TULP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TULP1
(F475fs +1 more)
Deletion
(frameshift variant)
not provided
+1 more
GUncertain significance
TULP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TULP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TULP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TULP1
(A524T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TULP1
(C470* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
TULP1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TULP1
(C470Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TULP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TULP1
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa
+2 more
GConflicting classifications of pathogenicity
TULP1
(P521L +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
TULP1
(P468T +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
TULP1
(Y467* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
TULP1
(Y467* +1 more)
Single nucleotide variant
(nonsense)
Leber congenital amaurosis 1
+1 more
GPathogenic
TULP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TULP1
(Y467fs +1 more)
Duplication
(frameshift variant)
Retinitis pigmentosa 14
GLikely pathogenic
TULP1
(R519W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TULP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TULP1
(D464H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TULP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TULP1
(D459G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TULP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TULP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TULP1
(A457T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TULP1
(V509A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TULP1
(R508H +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+1 more
GConflicting classifications of pathogenicity
TULP1
(R455S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TULP1
(R455C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TULP1
(L451fs +1 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
TULP1
(G454V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TULP1
(G454S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TULP1
(F453L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TULP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TULP1
(Q452* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
TULP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TULP1
(V503L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TULP1
(I449F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TULP1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
TULP1
(Y501F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TULP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TULP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TULP1
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
TULP1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TULP1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TULP1
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 14
+5 more
GPathogenic/Likely pathogenic
TULP1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TULP1
Single nucleotide variant
(intron variant)
Retinal dystrophy
GUncertain significance
TULP1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TULP1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TULP1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TULP1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TULP1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TULP1
Deletion
(intron variant)
not provided
GLikely benign
TULP1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TULP1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TULP1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TULP1
Single nucleotide variant
(intron variant)
Retinitis pigmentosa
GUncertain significance
TULP1
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 15
+2 more
GUncertain significance
TULP1
Duplication
(splice donor variant)
not provided
GPathogenic
TULP1
Single nucleotide variant
(splice donor variant)
Retinitis pigmentosa 14
+3 more
GPathogenic
TULP1
(P446S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TULP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TULP1
(A443V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TULP1
(A496T +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
TULP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TULP1
(Q492H +1 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy
GUncertain significance
TULP1
(Q439R +1 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 15
GUncertain significance
TEAD3, TULP1
(F491L +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
TULP1
(K489R +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
TULP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TULP1
(Q432fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
TULP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TULP1
(A433D +1 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy
GUncertain significance
TULP1
Deletion
(inframe_deletion)
not provided
GPathogenic
TULP1
(V430I +1 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+1 more
GUncertain significance
TULP1
(R429Q +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 14
+1 more
GPathogenic
TULP1
(R482W +1 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
TULP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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