U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 275

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
F8
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
F8
(E206K +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
(W197* +1 more)
Single nucleotide variant
(nonsense)
Hereditary factor VIII deficiency disease
GPathogenic
F8
(S196C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
F8
(R2326Q +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
+2 more
GPathogenic/Likely pathogenic
F8
(R2326* +1 more)
Single nucleotide variant
(nonsense)
Hereditary factor VIII deficiency disease
GPathogenic
F8
(R191fs +1 more)
Deletion
(frameshift variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
(R188G +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
F8
(R2323C +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GPathogenic/Likely pathogenic
F8
(L185* +1 more)
Single nucleotide variant
(nonsense)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
(L185fs +1 more)
Duplication
(frameshift variant)
Hereditary factor VIII deficiency disease
GPathogenic/Likely pathogenic
F8
(P2319L +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor IX deficiency disease
+1 more
GPathogenic
F8
(P2311H +1 more)
Single nucleotide variant
(missense variant)
Abnormality of coagulation
+1 more
GLikely pathogenic
F8
(T175I +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GConflicting classifications of pathogenicity
F8
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GBenign/Likely benign
F8
(Y2275* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
F8
(M2257V +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GBenign
F8
(W2248C +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GPathogenic
F8
(W113G +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
F8
(P105L +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
(G2233W +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
F8
(L2229P +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
F8
(R2228Q +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
+1 more
GPathogenic
F8
(R2228* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
F8
(A2227T +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
+1 more
GPathogenic
F8
(M2218K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
F8
(S2213F +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GPathogenic
F8
(Q2208E +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
+2 more
GPathogenic/Likely pathogenic
F8
(G2198E +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
(E2184Q +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
(M2183V +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
+2 more
GPathogenic/Likely pathogenic
F8
(R2182H +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GPathogenic
F8
(R2182C +1 more)
Single nucleotide variant
(missense variant)
Thrombophilia, X-linked, due to factor 8 defect
+1 more
GPathogenic
F8
(R2178H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
F8
(R2178C +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
+1 more
GPathogenic
F8
(Y2175del +1 more)
Deletion
(inframe_deletion)
not specified
+2 more
GUncertain significance
F8
(R2169H +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor IX deficiency disease
+2 more
GPathogenic
F8
(R2166* +1 more)
Single nucleotide variant
(nonsense)
Hereditary factor VIII deficiency disease
GPathogenic
F8
(P2162L +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
F8
(N13S +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
+1 more
GPathogenic/Likely pathogenic
F8
Single nucleotide variant
(intron variant)
not provided
GPathogenic
F8
(R2135*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
F8
(Y2124C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
F8
(Y2116H)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GUncertain significance
F8
(A2108V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
F8
(G2107D)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
F8
(G2102S)
Single nucleotide variant
(missense variant)
Thrombophilia, X-linked, due to factor 8 defect
+2 more
GConflicting classifications of pathogenicity
F8
(I2099N)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
(D2093V)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
F8
Single nucleotide variant
(synonymous variant)
Hereditary factor VIII deficiency disease
GLikely benign
F8
Single nucleotide variant
(synonymous variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
(S2082N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
F8
(C2040G)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
Microsatellite
(genic upstream transcript variant)
not provided
GPathogenic
F8
Single nucleotide variant
(intron variant)
Hereditary factor VIII deficiency disease
GLikely benign
F8
(V2035A)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
+1 more
GPathogenic
F8
(S2030N)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic
F8
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
F8
(R2016W)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GPathogenic
F8
(W2015R)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
(M2007fs)
Deletion
(frameshift variant)
Hereditary factor VIII deficiency disease
GPathogenic
F8
(G2000V)
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
Single nucleotide variant
(intron variant)
Hereditary factor VIII deficiency disease
+2 more
GConflicting classifications of pathogenicity
F8
(K1987fs)
Deletion
(frameshift variant)
not provided
GPathogenic
F8
(E1988fs)
Duplication
(frameshift variant)
not provided
GPathogenic
F8
(R1985fs)
Deletion
(frameshift variant)
not provided
GPathogenic
F8
(R1985Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
F8
(R1985*)
Single nucleotide variant
(nonsense)
Hereditary factor VIII deficiency disease
GPathogenic
F8
(V1984L)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GUncertain significance
F8
(V1981M)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
F8
(H1980R)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
F8
(I1972fs)
Deletion
(frameshift variant)
Hereditary factor VIII deficiency disease
GPathogenic
F8
(R1960Q)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
+1 more
GPathogenic/Likely pathogenic
F8
(I1959F)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
(L1948R)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
F8
(N1941S)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GPathogenic
F8
(A1939P)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GConflicting classifications of pathogenicity
F8
(H1938R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
F8
(F1899S)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
F8
(L1897fs)
Microsatellite
(frameshift variant)
not provided
GPathogenic
F8
(G1869S)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
F8
Single nucleotide variant
(synonymous variant)
Hereditary factor VIII deficiency disease
GLikely benign
F8
Single nucleotide variant
(intron variant)
not provided
+1 more
GPathogenic/Likely pathogenic
F8
(D1859V)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GUncertain significance
F8
(A1843T)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
(Y1834*)
Duplication
(nonsense)
Hereditary factor VIII deficiency disease
GPathogenic
F8
Single nucleotide variant
(synonymous variant)
Hereditary factor VIII deficiency disease
GBenign
F8
(P1828fs)
Deletion
(frameshift variant)
Hereditary factor VIII deficiency disease
GPathogenic
F8
(Q1817*)
Single nucleotide variant
(nonsense)
Hereditary factor VIII deficiency disease
GPathogenic
F8
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
F8
(L1808F)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
(S1806F)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
F8
(R1800H)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GPathogenic
F8
(F1794fs)
Indel
(frameshift variant)
Hereditary factor VIII deficiency disease
GPathogenic
F8
Deletion
(intron variant)
not specified
GBenign
F8
(G1779R)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GPathogenic
F8
(E1770K)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
(Y1767*)
Single nucleotide variant
(nonsense)
Hereditary factor VIII deficiency disease
GPathogenic
Format
Items per page
Sort by
Choose Destination