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Links from MedGen

Items: 1 to 100 of 324

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TPP1
(Q55R)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 2
GUncertain significance
TPP1
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 2
GPathogenic
TPP1
(I484fs)
Duplication
(frameshift variant)
Neuronal ceroid lipofuscinosis 2
GPathogenic
TPP1
(L61fs)
Indel
(frameshift variant)
Neuronal ceroid lipofuscinosis 2
GPathogenic
TPP1
Indel
(splice donor variant)
Neuronal ceroid lipofuscinosis 2
GPathogenic
TPP1
(L560P)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 2
GUncertain significance
TPP1
Single nucleotide variant
(splice acceptor variant)
Neuronal ceroid lipofuscinosis 2
GLikely pathogenic
TPP1
(Q338E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
TPP1
(S369fs)
Duplication
(frameshift variant)
Neuronal ceroid lipofuscinosis 2
GLikely pathogenic
TPP1
(Y292*)
Single nucleotide variant
(nonsense)
Neuronal ceroid lipofuscinosis 2
GLikely pathogenic
TPP1
(Q254*)
Single nucleotide variant
(nonsense)
Neuronal ceroid lipofuscinosis 2
GLikely pathogenic
TPP1
(S256*)
Single nucleotide variant
(nonsense)
Neuronal ceroid lipofuscinosis 2
GLikely pathogenic
TPP1
(S213*)
Single nucleotide variant
(nonsense)
Neuronal ceroid lipofuscinosis 2
GLikely pathogenic
TPP1
(S213fs)
Indel
(frameshift variant)
Neuronal ceroid lipofuscinosis 2
GLikely pathogenic
TPP1
(L80fs)
Duplication
(frameshift variant)
Neuronal ceroid lipofuscinosis 2
GLikely pathogenic
TPP1
(E302*)
Single nucleotide variant
(nonsense)
Neuronal ceroid lipofuscinosis 2
GLikely pathogenic
TPP1
(F393fs)
Deletion
(frameshift variant)
Neuronal ceroid lipofuscinosis 2
GLikely pathogenic
TPP1
(T400fs)
Microsatellite
(frameshift variant)
Neuronal ceroid lipofuscinosis 2
GLikely pathogenic
TPP1
(L88fs)
Indel
(frameshift variant)
Neuronal ceroid lipofuscinosis 2
GLikely pathogenic
TPP1
(N341fs)
Deletion
(frameshift variant)
Neuronal ceroid lipofuscinosis 2
GLikely pathogenic
TPP1
(T50fs)
Deletion
(frameshift variant)
Neuronal ceroid lipofuscinosis 2
GLikely pathogenic
TPP1
(P417fs)
Indel
(frameshift variant)
Neuronal ceroid lipofuscinosis 2
GLikely pathogenic
TPP1
(D405fs)
Indel
(frameshift variant)
Neuronal ceroid lipofuscinosis 2
GLikely pathogenic
TPP1
(Q338*)
Single nucleotide variant
(nonsense)
Neuronal ceroid lipofuscinosis 2
GLikely pathogenic
TPP1
(G390R)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 2
GUncertain significance
TPP1
(E44*)
Single nucleotide variant
(nonsense)
Neuronal ceroid lipofuscinosis 2
GPathogenic
TPP1
(G300fs)
Deletion
(frameshift variant)
Neuronal ceroid lipofuscinosis 2
GPathogenic
TPP1
(V415M)
Single nucleotide variant
(missense variant)
Autosomal recessive spinocerebellar ataxia 7
+1 more
GUncertain significance
TPP1
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 2
+2 more
GConflicting classifications of pathogenicity
TPP1
(T427S)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 2
+2 more
GUncertain significance
TPP1
(S382N)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 2
+2 more
GUncertain significance
TPP1
(R339L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TPP1
(L500fs)
Duplication
(frameshift variant)
Neuronal ceroid lipofuscinosis 2
+1 more
GPathogenic/Likely pathogenic
TPP1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
TPP1
(W542*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
TPP1
(E329del)
Deletion
(inframe_deletion)
Neuronal ceroid lipofuscinosis 2
GPathogenic
TPP1
(V323A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TPP1
(P499T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TPP1
(G300R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TPP1
(V461L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TPP1
Deletion
(intron variant)
not provided
GUncertain significance
TPP1
(L198P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TPP1
(Q27E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TPP1
(R268W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TPP1
(D26N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TPP1
(T30A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TPP1
(S331Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TPP1
(R268Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TPP1
(F251L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TPP1
Single nucleotide variant
(splice acceptor variant)
Neuronal ceroid lipofuscinosis 2
GPathogenic
TPP1
(R447P)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 2
GLikely pathogenic
TPP1
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 2
GUncertain significance
TPP1
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 2
GUncertain significance
TPP1
(A12V)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 2
GUncertain significance
TPP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TPP1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TPP1
(G172R)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 2
GUncertain significance
TPP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TPP1
(G364R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TPP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TPP1
(E524K)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 2
GUncertain significance
TPP1
(M281I)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 2
GUncertain significance
TPP1
(P178fs)
Deletion
(frameshift variant)
Neuronal ceroid lipofuscinosis 2
GLikely pathogenic
TPP1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
TPP1
(F481L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TPP1
(T322I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TPP1
(R297W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TPP1
(Q4L)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
TPP1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TPP1
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
TPP1
(M345T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TPP1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
TPP1
(V257A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TPP1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TPP1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
TPP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TPP1
(A555T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TPP1
(A335T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TPP1
(T179S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TPP1
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 2
GUncertain significance
TPP1
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 2
GUncertain significance
TPP1
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 2
GUncertain significance
TPP1
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 2
GUncertain significance
TPP1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TPP1
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 2
GUncertain significance
TPP1
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 2
GUncertain significance
TPP1
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 2
GUncertain significance
TPP1
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 2
GUncertain significance
TPP1
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 2
GUncertain significance
TPP1
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 2
GUncertain significance
TPP1
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 2
GUncertain significance
TPP1
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 2
GUncertain significance
TPP1
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 2
GUncertain significance
TPP1
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 2
GUncertain significance
TPP1
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 2
GBenign
TPP1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TPP1
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 2
GUncertain significance
TPP1
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 2
GUncertain significance
TPP1
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 2
GUncertain significance
TPP1
(A108V)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
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