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Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTA2, FAS
+1 more
Single nucleotide variant
(intron variant)
not specified
GBenign
FAS
(A25T)
Single nucleotide variant
(missense variant +1 more)
Autoimmune lymphoproliferative syndrome, type 1a
GPathogenic
FAS
(D78fs)
Deletion
(frameshift variant +1 more)
Autoimmune lymphoproliferative syndrome, type 1a
GPathogenic
FAS
Duplication
(splice donor variant)
Autoimmune lymphoproliferative syndrome type 1
GPathogenic
FAS
(N118S)
Single nucleotide variant
(missense variant +1 more)
SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC
GPathogenic
FAS
(R121W)
Single nucleotide variant
(missense variant +1 more)
Autoimmune lymphoproliferative syndrome, type 1a
GPathogenic
FAS
(C178R)
Single nucleotide variant
(missense variant +2 more)
SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC
GPathogenic
FAS
Single nucleotide variant
(splice acceptor variant +1 more)
Autoimmune lymphoproliferative syndrome, type 1a
GPathogenic
FAS
Single nucleotide variant
(splice donor variant +1 more)
Autoimmune lymphoproliferative syndrome type 1
GPathogenic
FAS
Single nucleotide variant
(splice donor variant +1 more)
Autoimmune lymphoproliferative syndrome, type 1a
GPathogenic
FAS
(K210fs +1 more)
Insertion
(frameshift variant +2 more)
Autoimmune lymphoproliferative syndrome, type 1a
GPathogenic
FAS
(Y211C +1 more)
Single nucleotide variant
(missense variant +2 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
(T220P +1 more)
Single nucleotide variant
(missense variant +2 more)
Autoimmune lymphoproliferative syndrome, type 1a
GPathogenic
FAS
(G226A +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Autoimmune lymphoproliferative syndrome, type 1a
GPathogenic
FAS
(R229P +1 more)
Single nucleotide variant
(missense variant +2 more)
Autoimmune lymphoproliferative syndrome type 1
GPathogenic
FAS
(N234D +1 more)
Single nucleotide variant
(missense variant +2 more)
SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC
GPathogenic
FAS
(D239Y +1 more)
Single nucleotide variant
(missense variant +2 more)
Autoimmune lymphoproliferative syndrome, type 1a
GPathogenic
FAS
(D260V +1 more)
Single nucleotide variant
(missense variant +2 more)
Autoimmune lymphoproliferative syndrome type 1
GPathogenic
FAS
(T249I +1 more)
Single nucleotide variant
(missense variant +2 more)
Autoimmune lymphoproliferative syndrome type 1
GUncertain significance
FAS
(Q252* +1 more)
Single nucleotide variant
(nonsense +2 more)
Autoimmune lymphoproliferative syndrome type 1
GPathogenic
FAS
(E309fs +1 more)
Duplication
(frameshift variant +2 more)
Autoimmune lymphoproliferative syndrome, type 1a
GPathogenic
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