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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
F11, F11-AS1
(R497*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
F11, F11-AS1
Single nucleotide variant
(splice donor variant)
Hereditary factor XI deficiency disease
+1 more
GPathogenic
F11-AS1, F11
(E613K)
Single nucleotide variant
(missense variant +1 more)
Hereditary factor XI deficiency disease
GLikely pathogenic
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