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Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
VWF
(P770S)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GUncertain significance
LMAN1
(V393A)
Single nucleotide variant
(missense variant)
Factor V deficiency
+2 more
GUncertain significance
F9
(V30L)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GPathogenic
F9
Single nucleotide variant
(splice donor variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F9
Single nucleotide variant
(intron variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F9
(R75Q)
Single nucleotide variant
(missense variant)
Thrombophilia, X-linked, due to factor 9 defect
+4 more
GPathogenic/Likely pathogenic
F9
(I136T +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GPathogenic
F9
Single nucleotide variant
(intron variant)
Hereditary factor VIII deficiency disease
+2 more
GConflicting classifications of pathogenicity
F9
Deletion
(splice acceptor variant +1 more)
Hereditary factor VIII deficiency disease
GPathogenic
F9
(R191H +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor IX deficiency disease
GPathogenic
F9
Deletion
(splice acceptor variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F9
(G253R +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F9
(C268S +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F9
(A279T +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor IX deficiency disease
GPathogenic
F9
(H282R +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
+1 more
GConflicting classifications of pathogenicity
F9
(R294Q +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor IX deficiency disease
+3 more
GPathogenic
F9
(A337T +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor IX deficiency disease
GPathogenic
F9
(T342M +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor IX deficiency disease
GPathogenic
F9
(G357R +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor IX deficiency disease
+1 more
GPathogenic/Likely pathogenic
F9
(L369P +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
+2 more
GLikely pathogenic
F9
(R341Q)
Single nucleotide variant
(missense variant)
Hereditary factor IX deficiency disease
+3 more
GPathogenic
F9
(R449W +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
+4 more
GConflicting classifications of pathogenicity
F9
Single nucleotide variant
(3 prime UTR variant)
Hereditary factor VIII deficiency disease
+2 more
GPathogenic/Likely pathogenic
FLNA, LOC107988032
+14 more
Duplication
Hereditary factor VIII deficiency disease
GPathogenic
F8, F8A1
+16 more
Deletion
Hereditary factor VIII deficiency disease
GPathogenic
F8
Deletion
Hereditary factor VIII deficiency disease
GPathogenic
F8
Single nucleotide variant
(3 prime UTR variant)
Hereditary factor VIII deficiency disease
GUncertain significance
F8
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
F8
Single nucleotide variant
(3 prime UTR variant)
Hereditary factor VIII deficiency disease
GBenign
F8
Single nucleotide variant
(3 prime UTR variant)
Hereditary factor VIII deficiency disease
GLikely benign
F8
Single nucleotide variant
(3 prime UTR variant)
Hereditary factor VIII deficiency disease
GUncertain significance
F8
Single nucleotide variant
(3 prime UTR variant)
Hereditary factor VIII deficiency disease
+1 more
GBenign
F8
Single nucleotide variant
(3 prime UTR variant)
Hereditary factor VIII deficiency disease
GUncertain significance
F8
Single nucleotide variant
(3 prime UTR variant)
Hereditary factor VIII deficiency disease
GUncertain significance
F8
Single nucleotide variant
(3 prime UTR variant)
Hereditary factor VIII deficiency disease
GUncertain significance
F8
Single nucleotide variant
(3 prime UTR variant)
Hereditary factor VIII deficiency disease
GBenign
F8
Single nucleotide variant
(3 prime UTR variant)
Hereditary factor VIII deficiency disease
GLikely benign
F8
Single nucleotide variant
(3 prime UTR variant)
Hereditary factor VIII deficiency disease
GUncertain significance
F8
Single nucleotide variant
(3 prime UTR variant)
Hereditary factor VIII deficiency disease
GUncertain significance
F8
Single nucleotide variant
(3 prime UTR variant)
Hereditary factor VIII deficiency disease
GUncertain significance
F8
Single nucleotide variant
(3 prime UTR variant)
Hereditary factor VIII deficiency disease
GUncertain significance
F8
Single nucleotide variant
(3 prime UTR variant)
Hereditary factor VIII deficiency disease
GUncertain significance
F8
Single nucleotide variant
(3 prime UTR variant)
Hereditary factor VIII deficiency disease
GUncertain significance
F8
Single nucleotide variant
(3 prime UTR variant)
Hereditary factor VIII deficiency disease
GUncertain significance
F8
Single nucleotide variant
(3 prime UTR variant)
Hereditary factor VIII deficiency disease
GUncertain significance
F8
Single nucleotide variant
(3 prime UTR variant)
Hereditary factor VIII deficiency disease
GUncertain significance
F8
Single nucleotide variant
(3 prime UTR variant)
Hereditary factor VIII deficiency disease
GLikely benign
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
(R204W +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
(R2326Q +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
+2 more
GPathogenic/Likely pathogenic
F8
(R2326L +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GPathogenic
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
(R188P +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
(R2323H +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GPathogenic
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
Single nucleotide variant
(synonymous variant)
Hereditary factor VIII deficiency disease
GLikely benign
F8
(P2319L +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor IX deficiency disease
+1 more
GPathogenic
F8
(P2319S +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
F8
(D182E +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
+1 more
GConflicting classifications of pathogenicity
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
(N170fs +1 more)
Deletion
(frameshift variant)
Hereditary factor VIII deficiency disease
GPathogenic
F8
Single nucleotide variant
(splice donor variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
(F2294fs +1 more)
Microsatellite
(frameshift variant)
Hereditary factor VIII deficiency disease
GPathogenic
F8
(T2291A +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
+1 more
GUncertain significance
F8
(W155R +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GPathogenic
F8
(Q2289* +1 more)
Single nucleotide variant
(nonsense)
Hereditary factor VIII deficiency disease
GPathogenic
F8
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GBenign/Likely benign
F8
(E143D +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GUncertain significance
F8
(M139T +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GPathogenic
F8
(L136P +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
(Q2265fs +1 more)
Deletion
(frameshift variant)
Hereditary factor VIII deficiency disease
GPathogenic
F8
(Q2265R +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
+1 more
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
(V2242M +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GConflicting classifications of pathogenicity
F8
(P105L +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
(W103* +1 more)
Single nucleotide variant
(nonsense)
Hereditary factor VIII deficiency disease
GPathogenic
F8
(A102V +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
(A102S +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GUncertain significance
F8
(R2234fs +1 more)
Deletion
(frameshift variant)
Hereditary factor VIII deficiency disease
GPathogenic
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
(R2228L +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GPathogenic
F8
(R2228Q +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
+1 more
GPathogenic
F8
(R2228G +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
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
(A2227fs +1 more)
Deletion
(frameshift variant)
Hereditary factor VIII deficiency disease
GLikely pathogenic
F8
(P2224del +1 more)
Deletion
(inframe_deletion)
Hereditary factor VIII deficiency disease
GPathogenic
F8
(A85P +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
+1 more
GConflicting classifications of pathogenicity
F8
(S2213F +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GPathogenic
F8
(A2211P +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
GPathogenic
F8
(Q2208R +1 more)
Single nucleotide variant
(missense variant)
F8-related disorder
+2 more
GConflicting classifications of pathogenicity
F8
(Q2208E +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor VIII deficiency disease
+2 more
GPathogenic/Likely pathogenic
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