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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PROS1
(S501P +1 more)
Single nucleotide variant
(missense variant)
Hereditary thrombophilia due to congenital protein S deficiency
+4 more
GConflicting classifications of pathogenicity
PROS1
(G487R +1 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein S deficiency, autosomal dominant
GLikely pathogenic
PROS1
(R451* +1 more)
Single nucleotide variant
(nonsense)
Thrombophilia due to protein S deficiency, autosomal recessive
+3 more
GPathogenic/Likely pathogenic
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