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Links from MedGen

Items: 1 to 100 of 535

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FAS
Single nucleotide variant
(intron variant)
Autoimmune lymphoproliferative syndrome type 1
GLikely benign
FAS
Single nucleotide variant
(intron variant)
Autoimmune lymphoproliferative syndrome type 1
GLikely benign
FASLG
(P67Q)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FASLG
Single nucleotide variant
(intron variant)
Autoimmune lymphoproliferative syndrome type 1
GLikely benign
FAS
(E114K +1 more)
Single nucleotide variant
(missense variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
Single nucleotide variant
(intron variant)
Autoimmune lymphoproliferative syndrome type 1
GLikely benign
FAS
(R171K +2 more)
Single nucleotide variant
(missense variant +2 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FASLG
Single nucleotide variant
(intron variant)
Autoimmune lymphoproliferative syndrome type 1
GLikely benign
FASLG
Single nucleotide variant
(intron variant)
Autoimmune lymphoproliferative syndrome type 1
GLikely benign
FAS
Single nucleotide variant
(synonymous variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GLikely benign
FAS
Single nucleotide variant
(synonymous variant +2 more)
Autoimmune lymphoproliferative syndrome type 1
GLikely benign
FAS
(N76H +1 more)
Single nucleotide variant
(missense variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
Single nucleotide variant
(intron variant)
Autoimmune lymphoproliferative syndrome type 1
GLikely benign
FAS
(G190E +3 more)
Single nucleotide variant
(missense variant +2 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
Single nucleotide variant
(intron variant)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FASLG
Single nucleotide variant
(synonymous variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GLikely benign
FAS
(V154I +1 more)
Single nucleotide variant
(missense variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
Single nucleotide variant
(intron variant)
Autoimmune lymphoproliferative syndrome type 1
GLikely benign
FAS
(T46P +1 more)
Single nucleotide variant
(missense variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
ACTA2, FAS
Duplication
(5 prime UTR variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GLikely benign
FAS
(C129Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
Single nucleotide variant
(synonymous variant +2 more)
Autoimmune lymphoproliferative syndrome type 1
GLikely benign
FASLG
Single nucleotide variant
(intron variant)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
(T173I +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
(C140G +1 more)
Single nucleotide variant
(missense variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
Single nucleotide variant
(synonymous variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GLikely benign
FAS
(K288E +2 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
(C78R +1 more)
Single nucleotide variant
(missense variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
Single nucleotide variant
(synonymous variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GLikely benign
FAS
(L159fs +1 more)
Deletion
(frameshift variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GPathogenic
FAS
(K164E +1 more)
Single nucleotide variant
(missense variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
(D271H +2 more)
Single nucleotide variant
(missense variant +2 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
Single nucleotide variant
(intron variant)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FASLG
(M213I)
Single nucleotide variant
(missense variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
(S19L +1 more)
Single nucleotide variant
(missense variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
(D144Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
(S227F +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
(T138A +1 more)
Single nucleotide variant
(missense variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GLikely benign
FASLG
Single nucleotide variant
(intron variant)
Autoimmune lymphoproliferative syndrome type 1
GLikely benign
FASLG
(V15fs)
Deletion
(frameshift variant)
Autoimmune lymphoproliferative syndrome type 1
GPathogenic
FAS
(K274E +2 more)
Single nucleotide variant
(missense variant +2 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
(C74S +1 more)
Single nucleotide variant
(missense variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FASLG
Single nucleotide variant
(intron variant)
Autoimmune lymphoproliferative syndrome type 1
GLikely benign
FAS
(L278H +2 more)
Single nucleotide variant
(missense variant +2 more)
Autoimmune lymphoproliferative syndrome type 1
GLikely pathogenic
FASLG
Single nucleotide variant
(synonymous variant)
Autoimmune lymphoproliferative syndrome type 1
GLikely benign
FASLG
(R115L)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
(W281R +2 more)
Single nucleotide variant
(missense variant +2 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FASLG
Single nucleotide variant
(intron variant)
Autoimmune lymphoproliferative syndrome type 1
GLikely benign
FASLG
Single nucleotide variant
(intron variant)
Autoimmune lymphoproliferative syndrome type 1
GLikely benign
ACTA2, FAS
Single nucleotide variant
(non-coding transcript variant +2 more)
Autoimmune lymphoproliferative syndrome type 1
GLikely benign
FAS
(T256K +2 more)
Single nucleotide variant
(missense variant +2 more)
Autoimmune lymphoproliferative syndrome type 1
GPathogenic
FAS
(L195F +1 more)
Single nucleotide variant
(missense variant +2 more)
Autoimmune lymphoproliferative syndrome type 1
GPathogenic
FAS
(E114V +1 more)
Single nucleotide variant
(missense variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GLikely pathogenic
FASLG
Single nucleotide variant
(synonymous variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GLikely benign
FASLG
(V120A)
Single nucleotide variant
(synonymous variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GLikely benign
FAS
(V23I +1 more)
Single nucleotide variant
(missense variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FASLG
Single nucleotide variant
(synonymous variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GLikely benign
FASLG
Single nucleotide variant
(synonymous variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GLikely benign
FASLG
(P122S +1 more)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FASLG
Single nucleotide variant
(intron variant)
Autoimmune lymphoproliferative syndrome type 1
GLikely benign
FAS
(F148L +1 more)
Single nucleotide variant
(missense variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
(C104R +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
(K54* +1 more)
Single nucleotide variant
(nonsense +1 more)
Autoimmune lymphoproliferative syndrome type 1
GPathogenic
FASLG
Single nucleotide variant
(synonymous variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GLikely benign
FAS
Single nucleotide variant
(intron variant)
Autoimmune lymphoproliferative syndrome type 1
GLikely benign
FASLG
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
+1 more
GLikely benign
FAS
(W176R +1 more)
Single nucleotide variant
(missense variant +2 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FASLG
(P31S)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome type 1
+1 more
GUncertain significance
FASLG
Deletion
(inframe_deletion +1 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
(E156K +1 more)
Single nucleotide variant
(missense variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
(C82Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
Deletion
Autoimmune lymphoproliferative syndrome type 1
GPathogenic
FAS
Single nucleotide variant
(synonymous variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GLikely benign
FASLG
Single nucleotide variant
(synonymous variant)
Autoimmune lymphoproliferative syndrome type 1
GLikely benign
ACTA2, FAS
(W5C)
Single nucleotide variant
(missense variant +2 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
Single nucleotide variant
(synonymous variant +2 more)
Autoimmune lymphoproliferative syndrome type 1
GLikely benign
FAS
(R258H +2 more)
Single nucleotide variant
(missense variant +2 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
(L177F +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FASLG
Microsatellite
(inframe_deletion)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FASLG
(R74K)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
Single nucleotide variant
(non-coding transcript variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GLikely benign
FAS
(N245H +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
Single nucleotide variant
(synonymous variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GLikely benign
FASLG
Single nucleotide variant
(intron variant)
Autoimmune lymphoproliferative syndrome type 1
GLikely benign
FAS
Single nucleotide variant
(intron variant)
Autoimmune lymphoproliferative syndrome type 1
GLikely benign
FAS
(L35M +1 more)
Single nucleotide variant
(missense variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FASLG
(E139K)
Single nucleotide variant
(missense variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
Single nucleotide variant
(synonymous variant +2 more)
Autoimmune lymphoproliferative syndrome type 1
GLikely benign
FASLG
(T123I)
Single nucleotide variant
(missense variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
Deletion
(nonsense +3 more)
Autoimmune lymphoproliferative syndrome type 1
GPathogenic
FAS
(E251K +2 more)
Single nucleotide variant
(missense variant +2 more)
Autoimmune lymphoproliferative syndrome type 1
GPathogenic
FAS
(D260G +2 more)
Single nucleotide variant
(missense variant +2 more)
Autoimmune lymphoproliferative syndrome type 1
GLikely pathogenic
FAS
Single nucleotide variant
(intron variant)
Autoimmune lymphoproliferative syndrome type 1
GLikely pathogenic
FAS
Single nucleotide variant
(splice acceptor variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GPathogenic
FAS
(C150Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GLikely pathogenic
FAS
Single nucleotide variant
(splice acceptor variant)
Autoimmune lymphoproliferative syndrome type 1
GPathogenic
FASLG
(G151D)
Single nucleotide variant
(missense variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
Single nucleotide variant
(splice donor variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GPathogenic
FASLG
(M213V)
Single nucleotide variant
(missense variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
Single nucleotide variant
(intron variant)
Autoimmune lymphoproliferative syndrome type 1
GLikely benign
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