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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FAS
(K104* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GLikely pathogenic
FAS
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
FAS
(E194K +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GConflicting classifications of pathogenicity
FAS
(S192fs +2 more)
Deletion
(frameshift variant +2 more)
not provided
+1 more
GPathogenic/Likely pathogenic
FAS
(I215fs +2 more)
Deletion
(frameshift variant +2 more)
not provided
GLikely pathogenic
FAS
(E240K +2 more)
Single nucleotide variant
(missense variant +2 more)
Autoimmune lymphoproliferative syndrome type 1
+1 more
GConflicting classifications of pathogenicity
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