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Items: 29

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PROS1
Single nucleotide variant
(3 prime UTR variant)
Thrombophilia due to protein S deficiency, autosomal dominant
GUncertain significance
PROS1
(C639F +1 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein S deficiency, autosomal dominant
GUncertain significance
PROS1
(G621V +1 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein S deficiency, autosomal dominant
GLikely pathogenic
PROS1
(P589fs +1 more)
Microsatellite
(frameshift variant)
Thrombophilia due to protein S deficiency, autosomal dominant
GPathogenic
PROS1
Single nucleotide variant
(synonymous variant)
Thrombophilia due to protein S deficiency, autosomal recessive
+1 more
GConflicting classifications of pathogenicity
PROS1
(T532A +1 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein S deficiency, autosomal dominant
+1 more
GUncertain significance
PROS1
(M523T +1 more)
Single nucleotide variant
(missense variant)
Protein S deficiency disease
GUncertain significance
PROS1
(R515H +1 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein S deficiency, autosomal dominant
GUncertain significance
PROS1
(V510M +1 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein S deficiency, autosomal dominant
+3 more
GConflicting classifications of pathogenicity
PROS1
(S501A +1 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein S deficiency, autosomal recessive
+1 more
GUncertain significance
PROS1
(S501P +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
PROS1
Deletion
Protein S deficiency disease
GLikely pathogenic
PROS1
(L446P +1 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein S deficiency, autosomal dominant
GLikely pathogenic
PROS1
(N365K +1 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein S deficiency, autosomal recessive
+1 more
GConflicting classifications of pathogenicity
PROS1
(L363P +1 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein S deficiency, autosomal dominant
GUncertain significance
PROS1
(I352S +1 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein S deficiency, autosomal dominant
GUncertain significance
PROS1
(R330W +1 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein S deficiency, autosomal dominant
GUncertain significance
PROS1
(L302W +1 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein S deficiency, autosomal dominant
GUncertain significance
PROS1
(G294fs +1 more)
Deletion
(frameshift variant)
Protein S deficiency disease
GPathogenic
PROS1
Single nucleotide variant
(splice donor variant)
Thrombophilia due to protein S deficiency, autosomal dominant
GLikely pathogenic
PROS1
(T130S +1 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein S deficiency, autosomal dominant
+1 more
GUncertain significance
PROS1
(G95E +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
PROS1
Single nucleotide variant
(intron variant)
Thrombophilia due to protein S deficiency, autosomal dominant
+1 more
GConflicting classifications of pathogenicity
PROS1
(P76L +1 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein S deficiency, autosomal dominant
+2 more
GConflicting classifications of pathogenicity
PROS1
(E67A +1 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein S deficiency, autosomal dominant
+2 more
GPathogenic/Likely pathogenic
PROS1
(E47* +1 more)
Single nucleotide variant
(nonsense)
Protein S deficiency disease
GPathogenic
PROS1
Single nucleotide variant
(splice donor variant)
Protein S deficiency disease
GLikely pathogenic
PROS1
(L17fs)
Duplication
(frameshift variant)
Thrombophilia due to protein S deficiency, autosomal dominant
+1 more
GLikely pathogenic
PROS1
Single nucleotide variant
(5 prime UTR variant)
Protein S deficiency disease
GPathogenic
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