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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 368114	NM_000132.4(F8):c.*29C>T	F8	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 993916	NM_000132.4(F8):c.7021G>A (p.Glu2341Lys)	F8 (E206K +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 993831	NM_000132.4(F8):c.6995G>A (p.Trp2332Ter)	F8 (W197* +1 more)	Single nucleotide variant (nonsense)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 618636	NM_000132.4(F8):c.6991A>T (p.Ser2331Cys)	F8 (S196C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 10126	NM_000132.4(F8):c.6977G>A (p.Arg2326Gln)	F8 (R2326Q +1 more)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease +2 more	GPathogenic/Likely pathogenic
Select item 10085	NM_000132.4(F8):c.6976C>T (p.Arg2326Ter)	F8 (R2326* +1 more)	Single nucleotide variant (nonsense)	Hereditary factor VIII deficiency disease	GPathogenicFDA Recognized database
Select item 1331083	NM_000132.4(F8):c.6975del (p.Arg2326fs)	F8 (R191fs +1 more)	Deletion (frameshift variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 618642	NM_000132.4(F8):c.6967C>G (p.Arg2323Gly)	F8 (R188G +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 10333	NM_000132.4(F8):c.6967C>T (p.Arg2323Cys)	F8 (R2323C +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic/Likely pathogenic
Select item 1330667	NM_000132.4(F8):c.6959T>G (p.Leu2320Ter)	F8 (L185* +1 more)	Single nucleotide variant (nonsense)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 1330566	NM_000132.4(F8):c.6956dup (p.Leu2320fs)	F8 (L185fs +1 more)	Duplication (frameshift variant)	Hereditary factor VIII deficiency disease	GPathogenic/Likely pathogenic
Select item 10332	NM_000132.4(F8):c.6956C>T (p.Pro2319Leu)	F8 (P2319L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 627123	NM_000132.4(F8):c.6932C>A (p.Pro2311His)	F8 (P2311H +1 more)	Single nucleotide variant (missense variant)	Abnormality of coagulation +1 more	GPathogenic/Likely pathogenic
Select item 914337	NM_000132.4(F8):c.6929C>T (p.Thr2310Ile)	F8 (T175I +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GConflicting classifications of pathogenicity
Select item 811460	NM_000132.4(F8):c.6849C>T (p.Ser2283=)	F8	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2920855	NM_000132.4(F8):c.6825T>A (p.Tyr2275Ter)	F8 (Y2275* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 41001	NM_000132.4(F8):c.6769A>G (p.Met2257Val)	F8 (M2257V +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GBenignFDA Recognized database
Select item 10327	NM_000132.4(F8):c.6744G>T (p.Trp2248Cys)	F8 (W2248C +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenicFDA Recognized database
Select item 2920957	NM_000132.4(F8):c.6742T>G (p.Trp2248Gly)	F8 (W113G +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 994123	NM_000132.4(F8):c.6719C>T (p.Pro2240Leu)	F8 (P105L +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 995657	NM_000132.4(F8):c.6697G>T (p.Gly2233Trp)	F8 (G2233W +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 1330618	NM_000132.4(F8):c.6696A>G (p.Gln2232=)	F8	Single nucleotide variant (synonymous variant)	Hereditary factor VIII deficiency disease +2 more	GConflicting classifications of pathogenicity
Select item 626935	NM_000132.4(F8):c.6686T>C (p.Leu2229Pro)	F8 (L2229P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 10098	NM_000132.4(F8):c.6683G>A (p.Arg2228Gln)	F8 (R2228Q +1 more)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease +1 more	GPathogenic
Select item 10086	NM_000132.4(F8):c.6682C>T (p.Arg2228Ter)	F8 (R2228* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 973794	NM_000132.4(F8):c.6679G>A (p.Ala2227Thr)	F8 (A2227T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 2428546	NM_000132.4(F8):c.6653T>A (p.Met2218Lys)	F8 (M2218K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 811281	NM_000132.4(F8):c.6638C>T (p.Ser2213Phe)	F8 (S2213F +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 811219	NM_000132.4(F8):c.6622C>G (p.Gln2208Glu)	F8 (Q2208E +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease +2 more	GPathogenic/Likely pathogenic
Select item 1330892	NM_000132.4(F8):c.6593G>A (p.Gly2198Glu)	F8 (G2198E +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 1330511	NM_000132.4(F8):c.6550G>C (p.Glu2184Gln)	F8 (E2184Q +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 626933	NM_000132.4(F8):c.6547A>G (p.Met2183Val)	F8 (M2183V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 10320	NM_000132.4(F8):c.6545G>A (p.Arg2182His)	F8 (R2182H +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10321	NM_000132.4(F8):c.6544C>T (p.Arg2182Cys)	F8 (R2182C +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease +1 more	GPathogenic
Select item 10319	NM_000132.4(F8):c.6533G>A (p.Arg2178His)	F8 (R2178H +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease +2 more	GPathogenic/Likely pathogenic
Select item 10318	NM_000132.4(F8):c.6532C>T (p.Arg2178Cys)	F8 (R2178C +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease +1 more	GPathogenic/Likely pathogenic
Select item 993637	NM_000132.4(F8):c.6523_6525del (p.Tyr2175del)	F8 (Y2175del +1 more)	Deletion (inframe_deletion)	not specified +2 more	GUncertain significance
Select item 10315	NM_000132.4(F8):c.6506G>A (p.Arg2169His)	F8 (R2169H +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease +2 more	GPathogenic
Select item 10096	NM_000132.4(F8):c.6496C>T (p.Arg2166Ter)	F8 (R2166* +1 more)	Single nucleotide variant (nonsense)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 2428622	NM_000132.4(F8):c.6485C>T (p.Pro2162Leu)	F8 (P2162L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1330287	NM_000132.4(F8):c.6443A>G (p.Asn2148Ser)	F8 (N13S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2920945	NM_000132.4(F8):c.6429+5G>A	F8	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 10088	NM_000132.4(F8):c.6403C>T (p.Arg2135Ter)	F8 (R2135*)	Single nucleotide variant (nonsense)	Hereditary factor VIII deficiency disease +1 more	GPathogenic
Select item 10310	NM_000132.4(F8):c.6371A>G (p.Tyr2124Cys)	F8 (Y2124C)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease +1 more	GPathogenic/Likely pathogenic
Select item 811198	NM_000132.4(F8):c.6346T>C (p.Tyr2116His)	F8 (Y2116H)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 1330860	NM_000132.4(F8):c.6323C>T (p.Ala2108Val)	F8 (A2108V)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease +1 more	GUncertain significance
Select item 618106	NM_000132.4(F8):c.6320G>A (p.Gly2107Asp)	F8 (G2107D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 914831	NM_000132.4(F8):c.6304G>A (p.Gly2102Ser)	F8 (G2102S)	Single nucleotide variant (missense variant)	Thrombophilia, X-linked, due to factor 8 defect +2 more	GConflicting classifications of pathogenicity
Select item 811732	NM_000132.4(F8):c.6296T>A (p.Ile2099Asn)	F8 (I2099N)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 618113	NM_000132.4(F8):c.6278A>T (p.Asp2093Val)	F8 (D2093V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 810971	NM_000132.4(F8):c.6276G>A (p.Val2092=)	F8	Single nucleotide variant (synonymous variant)	Hereditary factor VIII deficiency disease +1 more	GConflicting classifications of pathogenicity
Select item 1330691	NM_000132.4(F8):c.6273G>A (p.Lys2091=)	F8	Single nucleotide variant (synonymous variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 618638	NM_000132.4(F8):c.6245G>A (p.Ser2082Asn)	F8 (S2082N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1330791	NM_000132.4(F8):c.6118T>G (p.Cys2040Gly)	F8 (C2040G)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 2428513	NC_000023.11:g.154901441CT[1]	F8	Microsatellite (genic upstream transcript variant)	not provided	GPathogenic
Select item 994301	NM_000132.4(F8):c.6115+27C>T	F8	Single nucleotide variant (intron variant)	Hereditary factor VIII deficiency disease	GLikely benign
Select item 627347	NM_000132.4(F8):c.6104T>C (p.Val2035Ala)	F8 (V2035A)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease +1 more	GPathogenic
Select item 439683	NM_000132.4(F8):c.6089G>A (p.Ser2030Asn)	F8 (S2030N)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 2920911	NM_000132.4(F8):c.6066C>T (p.Gly2022=)	F8	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 10304	NM_000132.4(F8):c.6046C>T (p.Arg2016Trp)	F8 (R2016W)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenicFDA Recognized database
Select item 993963	NM_000132.4(F8):c.6043T>C (p.Trp2015Arg)	F8 (W2015R)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 1331057	NM_000132.4(F8):c.6020del (p.Met2007fs)	F8 (M2007fs)	Deletion (frameshift variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 811156	NM_000132.4(F8):c.5999G>T (p.Gly2000Val)	F8 (G2000V)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 1330709	NM_000132.4(F8):c.5999-2A>C	F8	Single nucleotide variant (splice acceptor variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 1685784	NM_000132.4(F8):c.5999-11G>A	F8	Single nucleotide variant (intron variant)	Thrombophilia, X-linked, due to factor 8 defect +2 more	GConflicting classifications of pathogenicity
Select item 618100	NM_000132.4(F8):c.5960_5964del (p.Lys1987fs)	F8 (K1987fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2428612	NM_000132.4(F8):c.5961dup (p.Glu1988fs)	F8 (E1988fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 618105	NM_000132.4(F8):c.5954del (p.Arg1985fs)	F8 (R1985fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 618098	NM_000132.4(F8):c.5954G>A (p.Arg1985Gln)	F8 (R1985Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 10300	NM_000132.4(F8):c.5953C>T (p.Arg1985Ter)	F8 (R1985*)	Single nucleotide variant (nonsense)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 811395	NM_000132.4(F8):c.5950G>C (p.Val1984Leu)	F8 (V1984L)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 2920840	NM_000132.4(F8):c.5941G>A (p.Val1981Met)	F8 (V1981M)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 618112	NM_000132.4(F8):c.5939A>G (p.His1980Arg)	F8 (H1980R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 811466	NM_000132.4(F8):c.5914_5915del (p.Ile1972fs)	F8 (I1972fs)	Deletion (frameshift variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10110	NM_000132.4(F8):c.5879G>A (p.Arg1960Gln)	F8 (R1960Q)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 993328	NM_000132.4(F8):c.5875A>T (p.Ile1959Phe)	F8 (I1959F)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 2920880	NM_000132.4(F8):c.5843T>G (p.Leu1948Arg)	F8 (L1948R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 10294	NM_000132.4(F8):c.5822A>G (p.Asn1941Ser)	F8 (N1941S)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenicFDA Recognized database
Select item 811810	NM_000132.4(F8):c.5815G>C (p.Ala1939Pro)	F8 (A1939P)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GUncertain significanceFDA Recognized database
Select item 993676	NM_000132.4(F8):c.5813A>G (p.His1938Arg)	F8 (H1938R)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease +1 more	GLikely pathogenic
Select item 812065	NM_000132.4(F8):c.5696T>C (p.Phe1899Ser)	F8 (F1899S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2428743	NM_000132.4(F8):c.5689_5690del (p.Leu1897fs)	F8 (L1897fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 618640	NM_000132.4(F8):c.5605G>A (p.Gly1869Ser)	F8 (G1869S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1330605	NM_000132.4(F8):c.5604A>T (p.Ser1868=)	F8	Single nucleotide variant (synonymous variant)	Hereditary factor VIII deficiency disease	GLikely benign
Select item 929936	NM_000132.4(F8):c.5587-93C>T	F8	Single nucleotide variant (intron variant)	Hereditary factor VIII deficiency disease +1 more	GPathogenic/Likely pathogenic
Select item 1679467	NM_000132.4(F8):c.5576A>T (p.Asp1859Val)	F8 (D1859V)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 811877	NM_000132.4(F8):c.5527G>A (p.Ala1843Thr)	F8 (A1843T)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 1330781	NM_000132.4(F8):c.5501dup (p.Tyr1834Ter)	F8 (Y1834*)	Duplication (nonsense)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 811809	NM_000132.4(F8):c.5493C>G (p.Thr1831=)	F8	Single nucleotide variant (synonymous variant)	Hereditary factor VIII deficiency disease	GBenign
Select item 994084	NM_000132.4(F8):c.5483del (p.Pro1828fs)	F8 (P1828fs)	Deletion (frameshift variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 1330820	NM_000132.4(F8):c.5449C>T (p.Gln1817Ter)	F8 (Q1817*)	Single nucleotide variant (nonsense)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 699078	NM_000132.4(F8):c.5430T>G (p.Ser1810=)	F8	Single nucleotide variant (synonymous variant)	Hereditary factor VIII deficiency disease +1 more	GBenign/Likely benign
Select item 10278	NM_000132.4(F8):c.5422C>T (p.Leu1808Phe)	F8 (L1808F)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 618634	NM_000132.4(F8):c.5417C>T (p.Ser1806Phe)	F8 (S1806F)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 10274	NM_000132.4(F8):c.5399G>A (p.Arg1800His)	F8 (R1800H)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenicFDA Recognized database
Select item 1331090	NM_000132.4(F8):c.5379_5381delinsGA (p.Phe1794fs)	F8 (F1794fs)	Indel (frameshift variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 439679	NM_000132.4(F8):c.5374-19del	F8	Deletion (intron variant)	not specified	GBenign
Select item 1330579	NM_000132.4(F8):c.5335G>A (p.Gly1779Arg)	F8 (G1779R)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 1330439	NM_000132.4(F8):c.5308G>A (p.Glu1770Lys)	F8 (E1770K)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 811964	NM_000132.4(F8):c.5301C>A (p.Tyr1767Ter)	F8 (Y1767*)	Single nucleotide variant (nonsense)	Hereditary factor VIII deficiency disease	GPathogenic

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