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Items: 1 to 100 of 363

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130005622, LOC130005623
+224 more
Copy number loss
See cases
GPathogenic
ACCS, ACCSL
+264 more
Copy number loss
See cases
GPathogenic
LOC130005585, LOC130005586
+258 more
Copy number loss
See cases
GPathogenic
ACCS, ACCSL
+254 more
Copy number gain
See cases
GLikely pathogenic
AMBRA1, ARHGAP1
+13 more
Copy number gain
See cases
GUncertain significance
F2
Single nucleotide variant
(synonymous variant)
Congenital prothrombin deficiency
GLikely benign
F2
(R5*)
Single nucleotide variant
(nonsense)
Congenital prothrombin deficiency
GPathogenic
F2
Single nucleotide variant
(synonymous variant)
Congenital prothrombin deficiency
GLikely benign
F2
Single nucleotide variant
(synonymous variant)
Thrombophilia due to thrombin defect
+1 more
GConflicting classifications of pathogenicity
F2
Single nucleotide variant
(synonymous variant)
Congenital prothrombin deficiency
GLikely benign
F2
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign/Likely benign
F2
Single nucleotide variant
(intron variant)
Congenital prothrombin deficiency
GLikely benign
F2
Single nucleotide variant
(intron variant)
Congenital prothrombin deficiency
GLikely benign
F2
Single nucleotide variant
(intron variant)
Congenital prothrombin deficiency
GLikely benign
F2
Single nucleotide variant
(intron variant)
Congenital prothrombin deficiency
GLikely benign
F2
Duplication
(intron variant)
Congenital prothrombin deficiency
GBenign
F2
Single nucleotide variant
(intron variant)
Congenital prothrombin deficiency
GLikely benign
F2
Single nucleotide variant
(intron variant)
Congenital prothrombin deficiency
GLikely benign
F2
Single nucleotide variant
(intron variant)
Congenital prothrombin deficiency
GLikely benign
F2
Single nucleotide variant
(intron variant)
Congenital prothrombin deficiency
GLikely benign
F2
Single nucleotide variant
(intron variant)
Congenital prothrombin deficiency
GLikely benign
F2
Duplication
(intron variant)
Congenital prothrombin deficiency
GLikely benign
F2
Single nucleotide variant
(intron variant)
Congenital prothrombin deficiency
GLikely benign
F2
Single nucleotide variant
(intron variant)
Congenital prothrombin deficiency
GLikely benign
F2
Single nucleotide variant
(intron variant)
Congenital prothrombin deficiency
GLikely benign
F2
Single nucleotide variant
(intron variant)
Congenital prothrombin deficiency
GLikely benign
F2
(Q33P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
F2
(R35W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
F2
Single nucleotide variant
(synonymous variant)
Congenital prothrombin deficiency
GLikely benign
F2
Single nucleotide variant
(synonymous variant)
Congenital prothrombin deficiency
GLikely benign
F2
(R40W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
F2
(R42W)
Single nucleotide variant
(missense variant)
Congenital prothrombin deficiency
GUncertain significance
F2
Single nucleotide variant
(synonymous variant)
Congenital prothrombin deficiency
GLikely benign
F2
Single nucleotide variant
(synonymous variant)
Congenital prothrombin deficiency
GLikely benign
F2
(L56P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
F2
Single nucleotide variant
(synonymous variant)
Congenital prothrombin deficiency
GLikely benign
F2
Single nucleotide variant
(synonymous variant)
Congenital prothrombin deficiency
GLikely benign
F2
(T64M)
Single nucleotide variant
(missense variant)
Thrombophilia due to thrombin defect
+2 more
GUncertain significance
F2
Single nucleotide variant
(synonymous variant)
Congenital prothrombin deficiency
GLikely benign
F2
Single nucleotide variant
(synonymous variant)
Congenital prothrombin deficiency
GLikely benign
F2
Single nucleotide variant
(synonymous variant)
Congenital prothrombin deficiency
+1 more
GLikely benign
F2
Single nucleotide variant
(synonymous variant)
Congenital prothrombin deficiency
GLikely benign
F2
Single nucleotide variant
(synonymous variant)
Congenital prothrombin deficiency
GLikely benign
F2
Single nucleotide variant
(synonymous variant)
Congenital prothrombin deficiency
GLikely benign
F2
Single nucleotide variant
(synonymous variant)
Congenital prothrombin deficiency
GLikely benign
F2
Single nucleotide variant
(synonymous variant)
Congenital prothrombin deficiency
GLikely benign
F2
(T78M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
F2
Single nucleotide variant
(synonymous variant)
Thrombophilia due to thrombin defect
+1 more
GConflicting classifications of pathogenicity
F2
Single nucleotide variant
(intron variant)
Congenital prothrombin deficiency
GLikely benign
F2
Single nucleotide variant
(intron variant)
Congenital prothrombin deficiency
GLikely benign
F2
Single nucleotide variant
(intron variant)
Congenital prothrombin deficiency
GLikely benign
F2
Single nucleotide variant
(intron variant)
Congenital prothrombin deficiency
GLikely benign
F2
Single nucleotide variant
(intron variant)
not provided
GBenign
F2
Single nucleotide variant
(intron variant)
not provided
GBenign
F2
Single nucleotide variant
(intron variant)
Congenital prothrombin deficiency
GLikely benign
F2
Single nucleotide variant
(intron variant)
Congenital prothrombin deficiency
GLikely benign
F2
(Y87C)
Single nucleotide variant
(missense variant)
Coagulation factor deficiency syndrome
GLikely pathogenic
F2
Single nucleotide variant
(synonymous variant)
Congenital prothrombin deficiency
GLikely benign
F2
Duplication
(intron variant)
Congenital prothrombin deficiency
GLikely benign
F2
Single nucleotide variant
(intron variant)
Congenital prothrombin deficiency
GLikely benign
F2
Single nucleotide variant
(intron variant)
Congenital prothrombin deficiency
GLikely benign
F2
Single nucleotide variant
(intron variant)
Congenital prothrombin deficiency
GLikely benign
F2
Single nucleotide variant
(intron variant)
not provided
GBenign
F2
Single nucleotide variant
(synonymous variant)
Congenital prothrombin deficiency
GLikely benign
F2
(T95M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
F2
Single nucleotide variant
(synonymous variant)
Thrombophilia due to thrombin defect
+1 more
GConflicting classifications of pathogenicity
F2
Single nucleotide variant
(intron variant)
Congenital prothrombin deficiency
GLikely benign
F2
Single nucleotide variant
(intron variant)
Congenital prothrombin deficiency
GLikely benign
F2
Single nucleotide variant
(intron variant)
Congenital prothrombin deficiency
GLikely benign
F2
Single nucleotide variant
(intron variant)
Congenital prothrombin deficiency
GLikely benign
F2
Single nucleotide variant
(intron variant)
not provided
GBenign
F2
Single nucleotide variant
(intron variant)
not provided
GBenign
F2
Single nucleotide variant
(intron variant)
not provided
GBenign
F2
Single nucleotide variant
(intron variant)
not provided
GBenign
F2
Single nucleotide variant
(intron variant)
Congenital prothrombin deficiency
GLikely benign
F2
Single nucleotide variant
(intron variant)
Congenital prothrombin deficiency
GLikely benign
F2
Single nucleotide variant
(intron variant)
Congenital prothrombin deficiency
GLikely benign
F2
Single nucleotide variant
(intron variant)
Congenital prothrombin deficiency
GLikely benign
F2
Single nucleotide variant
(intron variant)
Congenital prothrombin deficiency
GLikely benign
F2
Single nucleotide variant
(intron variant)
Congenital prothrombin deficiency
GLikely benign
F2
Single nucleotide variant
(intron variant)
Thrombophilia due to thrombin defect
+1 more
GConflicting classifications of pathogenicity
F2
Single nucleotide variant
(synonymous variant)
Congenital prothrombin deficiency
GLikely benign
F2
Single nucleotide variant
(synonymous variant)
Congenital prothrombin deficiency
GLikely benign
F2
Single nucleotide variant
(synonymous variant)
Congenital prothrombin deficiency
GLikely benign
F2
Single nucleotide variant
(synonymous variant)
Congenital prothrombin deficiency
GLikely benign
F2
(R117*)
Single nucleotide variant
(nonsense)
Congenital prothrombin deficiency
GPathogenic
F2
(R117Q)
Single nucleotide variant
(missense variant)
Thrombophilia due to thrombin defect
GUncertain significance
F2
(H119fs)
Insertion
(frameshift variant)
F2-Related Disorders
GUncertain significance
F2
Single nucleotide variant
(synonymous variant)
Congenital prothrombin deficiency
GLikely benign
F2
(R124Q)
Single nucleotide variant
(missense variant)
Congenital prothrombin deficiency
GUncertain significance
F2
(W132fs)
Duplication
(frameshift variant)
Congenital prothrombin deficiency
GPathogenic
F2
Single nucleotide variant
(synonymous variant)
Congenital prothrombin deficiency
GLikely benign
F2
Single nucleotide variant
(splice donor variant)
Congenital prothrombin deficiency
GLikely pathogenic
F2
Single nucleotide variant
(intron variant)
Congenital prothrombin deficiency
GLikely benign
F2
Single nucleotide variant
(intron variant)
Congenital prothrombin deficiency
GLikely benign
F2
Single nucleotide variant
(intron variant)
Congenital prothrombin deficiency
GLikely benign
F2
Single nucleotide variant
(intron variant)
Congenital prothrombin deficiency
GLikely benign
F2
Single nucleotide variant
(intron variant)
Thrombophilia due to thrombin defect
+3 more
GBenign/Likely benign
F2
Single nucleotide variant
(intron variant)
Congenital prothrombin deficiency
GLikely benign
F2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
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