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Items: 24

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
+1 more
GUncertain significance
PROS1
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GUncertain significance
PROS1
Single nucleotide variant
(3 prime UTR variant)
Thrombophilia due to protein S deficiency, autosomal dominant
+1 more
GUncertain significance
PROS1
Deletion
(3 prime UTR variant)
Thrombophilia due to protein S deficiency, autosomal recessive
+1 more
GUncertain significance
PROS1
Single nucleotide variant
(3 prime UTR variant)
Thrombophilia due to protein S deficiency, autosomal dominant
+1 more
GUncertain significance
PROS1
(I661V +1 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein S deficiency, autosomal recessive
+1 more
GUncertain significance
PROS1
(N583H +1 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein S deficiency, autosomal dominant
+1 more
GUncertain significance
PROS1
(T518M +1 more)
Single nucleotide variant
(missense variant)
Protein S deficiency disease
+2 more
GUncertain significance
PROS1
(V510M +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PROS1
(P444L +1 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein S deficiency, autosomal dominant
+1 more
GUncertain significance
PROS1
(P416L +1 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein S deficiency, autosomal dominant
+1 more
GUncertain significance
PROS1
(R387H +1 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein S deficiency, autosomal recessive
+1 more
GLikely pathogenic
PROS1
(R316H +1 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein S deficiency, autosomal recessive
+1 more
GUncertain significance
PROS1
(E230K +1 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein S deficiency, autosomal recessive
+1 more
GUncertain significance
PROS1
(N166H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
PROS1
Single nucleotide variant
(intron variant)
Thrombophilia due to protein S deficiency, autosomal recessive
+2 more
GUncertain significance
PROS1
(Q182R +1 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein S deficiency, autosomal dominant
+2 more
GUncertain significance
PROS1
(T130S +1 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein S deficiency, autosomal recessive
+2 more
GUncertain significance
PROS1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GUncertain significance
PROS1
(E67A +1 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein S deficiency, autosomal recessive
+1 more
GPathogenic/Likely pathogenic
PROS1
(K50E +1 more)
Single nucleotide variant
(missense variant)
Abnormal bleeding
+2 more
GUncertain significance
PROS1
(R40H +1 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein S deficiency, autosomal recessive
+1 more
GUncertain significance
PROS1
Single nucleotide variant
(5 prime UTR variant)
Thrombophilia due to protein S deficiency, autosomal recessive
+1 more
GUncertain significance
PROS1
Single nucleotide variant
Thrombophilia due to protein S deficiency, autosomal dominant
+1 more
GUncertain significance
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