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Links from Gene

Items: 1 to 100 of 296

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TIA1
(E4Q)
Single nucleotide variant
(missense variant +3 more)
not provided
GUncertain significance
TIA1
(E146A +8 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TIA1
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GLikely benign
TIA1
(I147T)
Single nucleotide variant
(synonymous variant +3 more)
not specified
GLikely benign
TIA1
(R127K +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TIA1
(P234L +11 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TIA1
Single nucleotide variant
(splice acceptor variant +1 more)
Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia
GUncertain significance
AAK1, ANTXR1
+24 more
Copy number loss
not specified
GUncertain significance
TIA1
(F16L +3 more)
Single nucleotide variant
(missense variant +2 more)
Welander distal myopathy
GUncertain significance
TIA1
(R60* +7 more)
Single nucleotide variant
(nonsense +3 more)
Welander distal myopathy
GUncertain significance
TIA1
Single nucleotide variant
(intron variant)
Welander distal myopathy
GLikely benign
TIA1
Single nucleotide variant
(intron variant)
Welander distal myopathy
GLikely benign
TIA1
(T44I +3 more)
Single nucleotide variant
(missense variant +2 more)
Welander distal myopathy
GUncertain significance
TIA1
(C170R +8 more)
Single nucleotide variant
(missense variant +1 more)
Welander distal myopathy
GUncertain significance
TIA1
Single nucleotide variant
(synonymous variant +1 more)
Welander distal myopathy
GLikely benign
TIA1
Single nucleotide variant
(synonymous variant +2 more)
Welander distal myopathy
GLikely benign
TIA1
(M193I +8 more)
Single nucleotide variant
(missense variant +1 more)
Welander distal myopathy
GUncertain significance
TIA1
(Y173C +11 more)
Single nucleotide variant
(missense variant +1 more)
Welander distal myopathy
GUncertain significance
TIA1
(D3N)
Single nucleotide variant
(missense variant +3 more)
Welander distal myopathy
GUncertain significance
TIA1
Single nucleotide variant
(intron variant)
Welander distal myopathy
GLikely benign
TIA1
(V154L +8 more)
Single nucleotide variant
(missense variant +1 more)
Welander distal myopathy
GUncertain significance
TIA1
Single nucleotide variant
(synonymous variant +1 more)
Welander distal myopathy
GLikely benign
TIA1
Single nucleotide variant
(intron variant)
Welander distal myopathy
GLikely benign
TIA1
Single nucleotide variant
(synonymous variant +3 more)
Welander distal myopathy
GLikely benign
TIA1
Single nucleotide variant
(synonymous variant +1 more)
Welander distal myopathy
GLikely benign
TIA1
Single nucleotide variant
(intron variant)
Welander distal myopathy
GLikely benign
TIA1
Single nucleotide variant
(intron variant)
Welander distal myopathy
GLikely benign
TIA1
Single nucleotide variant
(intron variant)
Welander distal myopathy
GLikely benign
TIA1
Single nucleotide variant
(synonymous variant +2 more)
Welander distal myopathy
GLikely benign
TIA1
(R64H +2 more)
Single nucleotide variant
(missense variant +3 more)
Welander distal myopathy
GUncertain significance
TIA1
Single nucleotide variant
(splice acceptor variant)
Welander distal myopathy
GUncertain significance
TIA1
Single nucleotide variant
(non-coding transcript variant +2 more)
Welander distal myopathy
GLikely benign
TIA1
(V188F +11 more)
Single nucleotide variant
(missense variant +1 more)
Welander distal myopathy
GUncertain significance
TIA1
(S136G +8 more)
Single nucleotide variant
(missense variant +1 more)
Welander distal myopathy
GUncertain significance
TIA1
Single nucleotide variant
(intron variant)
Welander distal myopathy
GLikely benign
TIA1
Single nucleotide variant
(synonymous variant +1 more)
Welander distal myopathy
GLikely benign
TIA1
Single nucleotide variant
(intron variant)
Welander distal myopathy
GLikely benign
TIA1
Single nucleotide variant
(intron variant)
Welander distal myopathy
GLikely benign
TIA1
Single nucleotide variant
(intron variant)
Welander distal myopathy
GLikely benign
TIA1
Single nucleotide variant
(intron variant)
Welander distal myopathy
GLikely benign
TIA1
(S150F)
Single nucleotide variant
(synonymous variant +3 more)
Welander distal myopathy
GLikely benign
TIA1
(I165V +8 more)
Single nucleotide variant
(missense variant +1 more)
Welander distal myopathy
GUncertain significance
TIA1
Single nucleotide variant
(intron variant)
Welander distal myopathy
GLikely benign
TIA1
Single nucleotide variant
(synonymous variant +3 more)
Welander distal myopathy
GLikely benign
TIA1
Microsatellite
(3 prime UTR variant +1 more)
Welander distal myopathy
GUncertain significance
TIA1
Single nucleotide variant
(intron variant)
Welander distal myopathy
GLikely benign
TIA1
(A115T +8 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TIA1
(P111S +8 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TIA1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
TIA1
(L279V +8 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
AAK1, ACTR2
+43 more
Copy number loss
not provided
GUncertain significance
TIA1
Microsatellite
(intron variant +1 more)
not provided
GUncertain significance
TIA1
(A190T +11 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TIA1
(T26K +4 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
TIA1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
TIA1
(V154fs +8 more)
Deletion
(frameshift variant +1 more)
not provided
GUncertain significance
TIA1
(I134T +8 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TIA1
(L148P +8 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TIA1
(Q201E +11 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TIA1
(L161M +8 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
TIA1
(S128F +8 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TIA1
(H105Y +7 more)
Single nucleotide variant
(missense variant +3 more)
not provided
+1 more
GUncertain significance
TIA1
(V11I)
Single nucleotide variant
(missense variant +3 more)
Welander distal myopathy
GUncertain significance
AAK1, ACTG2
+72 more
Duplication
not provided
GUncertain significance
TIA1
Duplication
Welander distal myopathy
GUncertain significance
TIA1
(T107I +8 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIA1
(M193I +11 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
TIA1
(W172C +11 more)
Single nucleotide variant
(missense variant +1 more)
Welander distal myopathy
GUncertain significance
TIA1
Single nucleotide variant
(synonymous variant +1 more)
Welander distal myopathy
GLikely benign
TIA1
Deletion
(intron variant)
Welander distal myopathy
GUncertain significance
TIA1
Single nucleotide variant
(intron variant)
Welander distal myopathy
GLikely benign
TIA1
Single nucleotide variant
(intron variant)
Welander distal myopathy
GLikely benign
TIA1
Deletion
(intron variant)
Welander distal myopathy
GBenign
TIA1
Single nucleotide variant
(intron variant)
Welander distal myopathy
GLikely benign
TIA1
Single nucleotide variant
(intron variant)
Welander distal myopathy
GLikely benign
TIA1
(S87P +7 more)
Single nucleotide variant
(missense variant +3 more)
Welander distal myopathy
GUncertain significance
TIA1
Single nucleotide variant
(intron variant)
Welander distal myopathy
GLikely benign
TIA1
Single nucleotide variant
(synonymous variant +3 more)
Welander distal myopathy
GLikely benign
TIA1
(G208R +8 more)
Single nucleotide variant
(missense variant +1 more)
Welander distal myopathy
GUncertain significance
TIA1
Single nucleotide variant
(synonymous variant +2 more)
Welander distal myopathy
GLikely benign
TIA1
Single nucleotide variant
(intron variant)
Welander distal myopathy
GLikely benign
TIA1
Single nucleotide variant
(intron variant)
Welander distal myopathy
GUncertain significance
TIA1
(D110G +8 more)
Single nucleotide variant
(missense variant +2 more)
Welander distal myopathy
GUncertain significance
TIA1
(P312S +11 more)
Single nucleotide variant
(missense variant +1 more)
Welander distal myopathy
GUncertain significance
TIA1
(Q334H +11 more)
Single nucleotide variant
(missense variant +1 more)
Welander distal myopathy
GUncertain significance
TIA1
(T91R +4 more)
Single nucleotide variant
(missense variant +2 more)
Welander distal myopathy
GUncertain significance
TIA1
Single nucleotide variant
(synonymous variant +1 more)
Welander distal myopathy
GLikely benign
TIA1
Single nucleotide variant
(intron variant)
Welander distal myopathy
GUncertain significance
TIA1
(M1I)
Single nucleotide variant
(missense variant +4 more)
Welander distal myopathy
GUncertain significance
TIA1
(N226fs +11 more)
Duplication
(frameshift variant +1 more)
Welander distal myopathy
GUncertain significance
TIA1
(G200V +11 more)
Single nucleotide variant
(missense variant +1 more)
Welander distal myopathy
GUncertain significance
TIA1
(F177C +8 more)
Single nucleotide variant
(missense variant +1 more)
Welander distal myopathy
GUncertain significance
TIA1
(P164R +11 more)
Single nucleotide variant
(missense variant +1 more)
Welander distal myopathy
GUncertain significance
TIA1
Microsatellite
(intron variant)
Welander distal myopathy
GLikely benign
TIA1
Deletion
(inframe_deletion +2 more)
Welander distal myopathy
GUncertain significance
TIA1
Deletion
(intron variant)
Welander distal myopathy
GLikely benign
TIA1
Microsatellite
(intron variant)
Welander distal myopathy
GLikely benign
TIA1
Single nucleotide variant
(intron variant)
Welander distal myopathy
GLikely benign
TIA1
(R64S +2 more)
Single nucleotide variant
(missense variant +3 more)
Welander distal myopathy
GUncertain significance
TIA1
(Y217D +11 more)
Single nucleotide variant
(missense variant +1 more)
Welander distal myopathy
GUncertain significance
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