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Links from MedGen

Items: 1 to 100 of 435

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TNFRSF1A
Single nucleotide variant
(synonymous variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
Single nucleotide variant
(intron variant)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
(A287T +2 more)
Single nucleotide variant
(missense variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
Single nucleotide variant
(intron variant)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
LOC130007232, TNFRSF1A
Single nucleotide variant
(intron variant)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
(E150D +2 more)
Single nucleotide variant
(missense variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
Single nucleotide variant
(synonymous variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
Single nucleotide variant
(intron variant)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
Single nucleotide variant
(intron variant)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
Single nucleotide variant
(intron variant)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
Single nucleotide variant
(synonymous variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
Single nucleotide variant
(synonymous variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
Single nucleotide variant
(synonymous variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
Single nucleotide variant
(intron variant)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
Single nucleotide variant
(intron variant)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
(L172R +2 more)
Single nucleotide variant
(missense variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
(P295Q +2 more)
Single nucleotide variant
(missense variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
Single nucleotide variant
(intron variant)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
Single nucleotide variant
(synonymous variant +2 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
Single nucleotide variant
(intron variant)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
(V258E +2 more)
Single nucleotide variant
(missense variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
(G101V +2 more)
Single nucleotide variant
(missense variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
Single nucleotide variant
(synonymous variant)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
Single nucleotide variant
(intron variant)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
LOC130007232, TNFRSF1A
Single nucleotide variant
(intron variant)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
Single nucleotide variant
(intron variant)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
LOC130007232, TNFRSF1A
Single nucleotide variant
(intron variant)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
(V20M)
Single nucleotide variant
(missense variant +3 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
(E236K +2 more)
Single nucleotide variant
(missense variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
(P193S +2 more)
Single nucleotide variant
(missense variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
LOC130007232, TNFRSF1A
Single nucleotide variant
(intron variant)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
Single nucleotide variant
(synonymous variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
(A192T +2 more)
Single nucleotide variant
(missense variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
(G257W +2 more)
Single nucleotide variant
(missense variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
(A208T +2 more)
Single nucleotide variant
(missense variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
Single nucleotide variant
(synonymous variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
Single nucleotide variant
(intron variant)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
(A308S +2 more)
Single nucleotide variant
(missense variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
Single nucleotide variant
(synonymous variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
LOC130007232, TNFRSF1A
Single nucleotide variant
(intron variant)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
Single nucleotide variant
(intron variant)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
(C81G)
Single nucleotide variant
(missense variant +2 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
(G87S)
Single nucleotide variant
(missense variant +2 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
Single nucleotide variant
(intron variant)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
(I171T +2 more)
Single nucleotide variant
(missense variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
Single nucleotide variant
(synonymous variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
Duplication
(intron variant)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
(R217C +2 more)
Single nucleotide variant
(missense variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
(G152E +1 more)
Single nucleotide variant
(missense variant +2 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
Single nucleotide variant
(synonymous variant +2 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
(P197R +2 more)
Single nucleotide variant
(missense variant)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
Single nucleotide variant
(synonymous variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
Single nucleotide variant
(synonymous variant +2 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
(T156N +2 more)
Single nucleotide variant
(missense variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
Single nucleotide variant
(5 prime UTR variant +2 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
(P24H)
Single nucleotide variant
(missense variant +3 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
Single nucleotide variant
(synonymous variant +2 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
Single nucleotide variant
(synonymous variant +2 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
Single nucleotide variant
(synonymous variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
(N153K +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
TNFRSF1A
(Y165fs +2 more)
Insertion
(frameshift variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely pathogenic
TNFRSF1A
(L119V +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
TNFRSF1A
(R241S +2 more)
Single nucleotide variant
(missense variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
+1 more
GUncertain significance
TNFRSF1A
(P113T +2 more)
Single nucleotide variant
(missense variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
(E38Q)
Single nucleotide variant
(missense variant +3 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
Single nucleotide variant
(synonymous variant +3 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
(A162T +2 more)
Single nucleotide variant
(missense variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
Single nucleotide variant
(synonymous variant +2 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
Single nucleotide variant
(synonymous variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
Single nucleotide variant
(synonymous variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
(R234Q +2 more)
Single nucleotide variant
(missense variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
Single nucleotide variant
(intron variant)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
Single nucleotide variant
(intron variant)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
(D122G +1 more)
Single nucleotide variant
(missense variant +2 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
(G149fs +2 more)
Duplication
(frameshift variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
Single nucleotide variant
(synonymous variant +3 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
Single nucleotide variant
(intron variant)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
(P136S +2 more)
Single nucleotide variant
(missense variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
(E113K +1 more)
Single nucleotide variant
(missense variant +2 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
(S42T)
Single nucleotide variant
(missense variant +3 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
Single nucleotide variant
(intron variant)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
Single nucleotide variant
(synonymous variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
Single nucleotide variant
(synonymous variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
(T192M +2 more)
Single nucleotide variant
(missense variant)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
(K107Q)
Single nucleotide variant
(missense variant +2 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
Single nucleotide variant
(intron variant)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
(R238Q +2 more)
Single nucleotide variant
(missense variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
Single nucleotide variant
(intron variant)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
Deletion
(intron variant)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
Deletion
(inframe_indel)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
Single nucleotide variant
(synonymous variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
Single nucleotide variant
(intron variant)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
LOC130007232, TNFRSF1A
Single nucleotide variant
(intron variant)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
Single nucleotide variant
(intron variant)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
(P448R +2 more)
Single nucleotide variant
(missense variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
Single nucleotide variant
(synonymous variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
(R300G +2 more)
Single nucleotide variant
(missense variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
TNFRSF1A
Single nucleotide variant
(synonymous variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
Single nucleotide variant
(synonymous variant +3 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GLikely benign
TNFRSF1A
Single nucleotide variant
(intron variant +1 more)
TNF receptor-associated periodic fever syndrome (TRAPS)
GUncertain significance
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