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Links from MedGen

Items: 1 to 100 of 214

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
INSL6, JAK2
Single nucleotide variant
(intron variant)
not provided
+6 more
GConflicting classifications of pathogenicity
F5
Single nucleotide variant
(3 prime UTR variant)
Budd-Chiari syndrome
+2 more
GConflicting classifications of pathogenicity
F5
Single nucleotide variant
(synonymous variant)
Budd-Chiari syndrome
+4 more
GConflicting classifications of pathogenicity
F5
(P1816S)
Single nucleotide variant
(missense variant)
Budd-Chiari syndrome
+4 more
GConflicting classifications of pathogenicity
F5
(P1910L)
Single nucleotide variant
(missense variant)
Budd-Chiari syndrome
+2 more
GUncertain significance
F5
Single nucleotide variant
(intron variant)
Budd-Chiari syndrome
+3 more
GConflicting classifications of pathogenicity
F5
Single nucleotide variant
(synonymous variant)
Budd-Chiari syndrome
+3 more
GConflicting classifications of pathogenicity
F5
Single nucleotide variant
(3 prime UTR variant)
Factor V deficiency
+3 more
GUncertain significance
F5
Single nucleotide variant
(3 prime UTR variant)
Factor V deficiency
+3 more
GUncertain significance
F5
Single nucleotide variant
(3 prime UTR variant)
Thrombophilia due to thrombin defect
+3 more
GUncertain significance
F5
Single nucleotide variant
(3 prime UTR variant)
Thrombophilia due to thrombin defect
+3 more
GUncertain significance
F5
Single nucleotide variant
(3 prime UTR variant)
Thrombophilia due to activated protein C resistance
+3 more
GUncertain significance
F5
Single nucleotide variant
(3 prime UTR variant)
Thrombophilia due to activated protein C resistance
+3 more
GUncertain significance
F5
Single nucleotide variant
(synonymous variant)
Budd-Chiari syndrome
+4 more
GConflicting classifications of pathogenicity
F5
(Q1318K)
Single nucleotide variant
(missense variant)
Budd-Chiari syndrome
+6 more
GLikely benign
F5
(I1321L)
Single nucleotide variant
(missense variant)
Factor V deficiency
+2 more
GUncertain significance
F5
(M1391T)
Single nucleotide variant
(missense variant)
Thrombophilia due to thrombin defect
+2 more
GUncertain significance
F5
Single nucleotide variant
(synonymous variant)
Thrombophilia due to thrombin defect
+3 more
GUncertain significance
F5
(E1927G)
Single nucleotide variant
(missense variant)
Thrombophilia due to thrombin defect
+3 more
GUncertain significance
F5
(Q210K)
Single nucleotide variant
(missense variant)
Budd-Chiari syndrome
+3 more
GConflicting classifications of pathogenicity
F5
(Q2081E)
Single nucleotide variant
(missense variant)
Thrombophilia due to activated protein C resistance
+3 more
GUncertain significance
F5
(R2100C)
Single nucleotide variant
(missense variant)
Thrombophilia due to thrombin defect
+2 more
GUncertain significance
F5
Single nucleotide variant
(3 prime UTR variant)
Thrombophilia due to thrombin defect
+3 more
GUncertain significance
F5
Single nucleotide variant
(3 prime UTR variant)
Thrombophilia due to activated protein C resistance
+3 more
GUncertain significance
F5
(F679L)
Single nucleotide variant
(missense variant)
Budd-Chiari syndrome
+4 more
GConflicting classifications of pathogenicity
F5
Single nucleotide variant
(3 prime UTR variant)
Factor V deficiency
+3 more
GUncertain significance
F5
Single nucleotide variant
(3 prime UTR variant)
Thrombophilia due to activated protein C resistance
+3 more
GUncertain significance
F5
(D1090G)
Single nucleotide variant
(missense variant)
Thrombophilia due to thrombin defect
+3 more
GUncertain significance
F5
Single nucleotide variant
(3 prime UTR variant)
Thrombophilia due to thrombin defect
+3 more
GUncertain significance
F5
(I1231L)
Single nucleotide variant
(missense variant)
Thrombophilia due to thrombin defect
+3 more
GUncertain significance
F5
(F1334L)
Single nucleotide variant
(missense variant)
Thrombophilia due to thrombin defect
+2 more
GUncertain significance
F5
(R1715Q)
Single nucleotide variant
(missense variant)
Thrombophilia due to thrombin defect
+3 more
GUncertain significance
F5
Single nucleotide variant
(synonymous variant)
Factor V deficiency
+3 more
GUncertain significance
F5
(V94A)
Single nucleotide variant
(missense variant)
Factor V deficiency
+3 more
GUncertain significance
F5
Single nucleotide variant
(intron variant)
Thrombophilia due to thrombin defect
+3 more
GUncertain significance
F5
(R341C)
Single nucleotide variant
(missense variant)
Budd-Chiari syndrome
+3 more
GConflicting classifications of pathogenicity
F5
(R345W)
Single nucleotide variant
(missense variant)
Budd-Chiari syndrome
+4 more
GConflicting classifications of pathogenicity
F5
Single nucleotide variant
(3 prime UTR variant)
Factor V deficiency
+3 more
GUncertain significance
F5
Single nucleotide variant
(intron variant)
Budd-Chiari syndrome
+4 more
GConflicting classifications of pathogenicity
F5
Single nucleotide variant
(3 prime UTR variant)
Factor V deficiency
+2 more
GBenign/Likely benign
F5
(A516S)
Single nucleotide variant
(missense variant)
Thrombophilia due to thrombin defect
+3 more
GUncertain significance
F5
Single nucleotide variant
(3 prime UTR variant)
Budd-Chiari syndrome
+3 more
GUncertain significance
F5
Single nucleotide variant
(3 prime UTR variant)
Thrombophilia due to thrombin defect
+3 more
GUncertain significance
F5
Single nucleotide variant
(3 prime UTR variant)
Budd-Chiari syndrome
+3 more
GUncertain significance
F5
Single nucleotide variant
(3 prime UTR variant)
Budd-Chiari syndrome
+3 more
GUncertain significance
F5
(R1030Q)
Single nucleotide variant
(missense variant)
Thrombophilia due to thrombin defect
+2 more
GUncertain significance
F5
Single nucleotide variant
(3 prime UTR variant)
Thrombophilia due to activated protein C resistance
+3 more
GUncertain significance
F5
Single nucleotide variant
(3 prime UTR variant)
Factor V deficiency
+3 more
GUncertain significance
F5
Single nucleotide variant
(3 prime UTR variant)
Factor V deficiency
+3 more
GUncertain significance
F5
Single nucleotide variant
(synonymous variant)
Factor V deficiency
+3 more
GUncertain significance
F5
Single nucleotide variant
(3 prime UTR variant)
Budd-Chiari syndrome
+3 more
GUncertain significance
F5
(F1289L)
Single nucleotide variant
(missense variant)
Budd-Chiari syndrome
+3 more
GUncertain significance
F5
(N1338T)
Single nucleotide variant
(missense variant)
Budd-Chiari syndrome
+3 more
GUncertain significance
F5
(P1361L)
Single nucleotide variant
(missense variant)
Budd-Chiari syndrome
+2 more
GUncertain significance
F5
(M1811L)
Single nucleotide variant
(missense variant)
Budd-Chiari syndrome
+3 more
GConflicting classifications of pathogenicity
F5
(G125D)
Single nucleotide variant
(missense variant)
Thrombophilia due to thrombin defect
+3 more
GUncertain significance
F5
(P189L)
Single nucleotide variant
(missense variant)
Budd-Chiari syndrome
+2 more
GUncertain significance
F5
(G1975R)
Single nucleotide variant
(missense variant)
Budd-Chiari syndrome
+3 more
GConflicting classifications of pathogenicity
F5
(T1978I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GUncertain significance
F5
(P447R)
Single nucleotide variant
(missense variant)
Budd-Chiari syndrome
+3 more
GUncertain significance
F5
(E1530A)
Single nucleotide variant
(missense variant)
Congenital factor V deficiency
+5 more
GConflicting classifications of pathogenicity
F5
Single nucleotide variant
(intron variant)
Congenital factor V deficiency
+3 more
GConflicting classifications of pathogenicity
F5
Single nucleotide variant
(synonymous variant)
Thrombophilia due to thrombin defect
+3 more
GConflicting classifications of pathogenicity
F5
(H710R)
Single nucleotide variant
(missense variant)
not provided
+6 more
GBenign
F5
(E1054D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+7 more
GConflicting classifications of pathogenicity
F5
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+7 more
GBenign/Likely benign
F5
(K2185R)
Single nucleotide variant
(missense variant)
not provided
+6 more
GBenign/Likely benign
F5
(S1259Y)
Single nucleotide variant
(missense variant)
Budd-Chiari syndrome
+3 more
GLikely benign
F5
(L1749V)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
F5
(R376S)
Single nucleotide variant
(missense variant)
Thrombophilia due to thrombin defect
+6 more
GUncertain significance
F5
(I1755M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+9 more
GConflicting classifications of pathogenicity
F5
(K332N)
Single nucleotide variant
(missense variant)
Thrombophilia due to thrombin defect
+3 more
GConflicting classifications of pathogenicity
INSL6, JAK2
Duplication
(3 prime UTR variant +1 more)
Budd-Chiari syndrome
GUncertain significance
INSL6, JAK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Budd-Chiari syndrome
GUncertain significance
INSL6, JAK2
Microsatellite
(3 prime UTR variant +1 more)
Budd-Chiari syndrome
GUncertain significance
INSL6, JAK2
Microsatellite
(3 prime UTR variant +1 more)
Budd-Chiari syndrome
GUncertain significance
INSL6, JAK2
Insertion
(3 prime UTR variant +1 more)
Budd-Chiari syndrome
GUncertain significance
INSL6, JAK2
Microsatellite
(3 prime UTR variant +1 more)
Budd-Chiari syndrome
GUncertain significance
INSL6, JAK2
Deletion
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
JAK2, LOC130001497
Single nucleotide variant
(5 prime UTR variant +1 more)
Budd-Chiari syndrome
GUncertain significance
F5
Single nucleotide variant
Factor V deficiency
+3 more
GUncertain significance
F5
Single nucleotide variant
(5 prime UTR variant)
Thrombophilia due to activated protein C resistance
+3 more
GUncertain significance
F5
Single nucleotide variant
(5 prime UTR variant)
Thrombophilia due to thrombin defect
+3 more
GUncertain significance
F5
(G15S)
Single nucleotide variant
(missense variant)
Factor V deficiency
+4 more
GBenign/Likely benign
F5
Single nucleotide variant
(synonymous variant)
Thrombophilia due to activated protein C resistance
+4 more
GConflicting classifications of pathogenicity
F5
Single nucleotide variant
(intron variant)
Congenital factor V deficiency
+4 more
GBenign/Likely benign
F5
Single nucleotide variant
(synonymous variant)
Thrombophilia due to thrombin defect
+4 more
GConflicting classifications of pathogenicity
F5
(R146Q)
Single nucleotide variant
(missense variant)
Thrombophilia due to thrombin defect
+3 more
GUncertain significance
F5
(H175R)
Single nucleotide variant
(missense variant)
Thrombophilia due to activated protein C resistance
+5 more
GConflicting classifications of pathogenicity
F5
(E180K)
Single nucleotide variant
(missense variant)
Thrombophilia due to thrombin defect
+3 more
GUncertain significance
F5
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GBenign/Likely benign
F5
Single nucleotide variant
(synonymous variant)
Thrombophilia due to activated protein C resistance
+4 more
GConflicting classifications of pathogenicity
F5
Single nucleotide variant
(synonymous variant)
Factor V deficiency
+4 more
GConflicting classifications of pathogenicity
F5
(A296T)
Single nucleotide variant
(missense variant)
Budd-Chiari syndrome
+3 more
GUncertain significance
F5
Single nucleotide variant
(synonymous variant)
Thrombophilia due to activated protein C resistance
+3 more
GUncertain significance
F5
(R345Q)
Single nucleotide variant
(missense variant)
Budd-Chiari syndrome
+3 more
GConflicting classifications of pathogenicity
F5
(A369V)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
F5
(V434M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GConflicting classifications of pathogenicity
F5
(T464I)
Single nucleotide variant
(missense variant)
Thrombophilia due to activated protein C resistance
+4 more
GConflicting classifications of pathogenicity
F5
(R513K)
Single nucleotide variant
(missense variant)
Thrombophilia due to thrombin defect
+5 more
GBenign/Likely benign
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