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Links from MedGen

Items: 1 to 100 of 646

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
F8
(Q1129*)
Single nucleotide variant
(nonsense)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
(S553C)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GPathogenic
F8
(V159D)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
(G1769E)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
Single nucleotide variant
(splice donor variant)
Hereditary factor VIII deficiency disease
GPathogenic
F8
(S229*)
Single nucleotide variant
(nonsense)
Hereditary factor VIII deficiency disease
GPathogenic
F8
(I567fs)
Deletion
(frameshift variant)
Hereditary factor VIII deficiency disease
GPathogenic
F8
(E1830*)
Single nucleotide variant
(nonsense)
Hereditary factor VIII deficiency disease
GPathogenic
F8
(R458C)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GPathogenic
F8
(T696I)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GPathogenic
F8
(M633I)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GPathogenic
F8
Deletion
Hereditary factor VIII deficiency disease
GPathogenic
F8
Deletion
Hereditary factor VIII deficiency disease
GPathogenic
F8
(S138fs)
Deletion
(frameshift variant)
Hereditary factor VIII deficiency disease
GPathogenic
F8
(S17P +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
(M139T +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GPathogenic
F8
(E1701K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
F8
(S1046*)
Single nucleotide variant
(nonsense)
Hereditary factor VIII deficiency disease
GPathogenic
F8
(W1854*)
Single nucleotide variant
(nonsense)
Hereditary factor VIII deficiency disease
GPathogenic
F8
(D34E)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GUncertain significance
F8
(A102V +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
(R2109C)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
(M374fs)
Deletion
(frameshift variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
(K249*)
Single nucleotide variant
(nonsense)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
(S906*)
Single nucleotide variant
(nonsense)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
(M279R)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
(R2169C +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GPathogenic
F8
(G469*)
Single nucleotide variant
(nonsense)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
Single nucleotide variant
(splice acceptor variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8, F8A1
+1 more
Duplication
Hereditary factor VIII deficiency disease
GPathogenic
F8
(E576V)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GUncertain significance
F8
(Q1711P)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GUncertain significance
F8
(H228P)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
(M1K)
Single nucleotide variant
(missense variant +1 more)
Hereditary factor VIII deficiency disease
GUncertain significance
F8
(M681I)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
(E1101fs)
Duplication
(frameshift variant)
Hereditary factor VIII deficiency disease
GPathogenic
F8
Single nucleotide variant
(splice acceptor variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
(A394fs)
Deletion
(frameshift variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
(Q1764*)
Single nucleotide variant
(nonsense)
Hereditary factor VIII deficiency disease
GPathogenic
F8
(H1980fs)
Deletion
(frameshift variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
(T252fs)
Microsatellite
(frameshift variant)
Hereditary factor VIII deficiency disease
GPathogenic
F8
(P1999fs)
Deletion
(frameshift variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
Single nucleotide variant
(splice donor variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
Single nucleotide variant
(splice donor variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
Single nucleotide variant
(splice donor variant)
Hereditary factor VIII deficiency disease
GPathogenic
F8
(L571R)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GUncertain significance
F8
(M1071I)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GUncertain significance
F8
(V682A)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
(S112F)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
+1 more
GLikely pathogenic
VWF
(P770S)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GUncertain significance
F8
(E2018K)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
(D186G)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
(K2091N)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
(L1951F)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
(I2121N)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GUncertain significance
F8
(I636T)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
(L1951F)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GPathogenic
F8
(S2125R)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
(Q1358*)
Single nucleotide variant
(nonsense)
Hereditary factor VIII deficiency disease
GPathogenic
F8
(W1961*)
Single nucleotide variant
(nonsense)
Hereditary factor VIII deficiency disease
GPathogenic
F8
(H300fs)
Insertion
(frameshift variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
(M721I)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GPathogenic
F8
(C2040Y)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
(R1768C)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GPathogenic/Likely pathogenic
F8
(W401*)
Single nucleotide variant
(nonsense)
Hereditary factor VIII deficiency disease
GPathogenic
F8
Single nucleotide variant
(splice donor variant)
Hereditary factor VIII deficiency disease
GPathogenic
F8
(G323R)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
(V1952E)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GPathogenic
F8
Single nucleotide variant
(splice acceptor variant)
Hereditary factor VIII deficiency disease
GPathogenic
F8
(Y1717fs)
Deletion
(frameshift variant)
Hereditary factor VIII deficiency disease
GPathogenic
F8
(D1861G)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GUncertain significance
F8
(G2000A)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
(R446Q)
Single nucleotide variant
(missense variant)
Thrombophilia, X-linked, due to factor 8 defect
+1 more
GUncertain significance
F8
(P947R)
Single nucleotide variant
(missense variant)
Thrombophilia, X-linked, due to factor 8 defect
+1 more
GConflicting classifications of pathogenicity
F8
(A1610S)
Single nucleotide variant
(missense variant)
Thrombophilia, X-linked, due to factor 8 defect
+1 more
GConflicting classifications of pathogenicity
F8
Single nucleotide variant
(intron variant)
Thrombophilia, X-linked, due to factor 8 defect
+2 more
GConflicting classifications of pathogenicity
F8
(P83R)
Single nucleotide variant
(missense variant)
F8-related condition
GUncertain significance
F8
(V103A)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
(T154A)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
(P170L)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
(R2016Q)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
F8
(D2206G +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
(R188P +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
(R301C)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
(L566F)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GPathogenic
F8
(D1859V)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GUncertain significance
F8
(G873D)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GUncertain significance
F8
(V285M)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
(R717L)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GConflicting classifications of pathogenicity
F8
(L644V)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
(W1836R)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
(I390T)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
(F992fs)
Deletion
(frameshift variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
(N1460fs)
Duplication
(frameshift variant)
Thrombophilia, X-linked, due to factor 8 defect
+2 more
GPathogenic/Likely pathogenic
F8
(F1794fs)
Indel
(frameshift variant)
Hereditary factor VIII deficiency disease
GPathogenic
F8
(L217P)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
(R191fs +1 more)
Deletion
(frameshift variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
(M2007fs)
Deletion
(frameshift variant)
Hereditary factor VIII deficiency disease
GPathogenic
F8
(T1670I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
F8
(G477V)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
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