"Fulgent Genetics, Fulgent Genetics"[submitter] AND "F8"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 368116	NM_000132.4(F8):c.6871A>G (p.Thr2291Ala)	F8 (T2291A +1 more)	Single nucleotide variant (missense variant)	Thrombophilia, X-linked, due to factor 8 defect +1 more	GUncertain significance
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	GBenign FDA Recognized database
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 804136	NM_000132.4(F8):c.6374G>C (p.Ser2125Thr)	F8 (S2125T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 444838	NM_000132.4(F8):c.4442T>C (p.Leu1481Pro)	F8 (L1481P)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease +2 more	GUncertain significance
Select item 1333164	NM_000132.4(F8):c.4379dup (p.Asn1460fs)	F8 (N1460fs)	Duplication (frameshift variant)	Hereditary factor VIII deficiency disease +2 more	GPathogenic/Likely pathogenic
Select item 10256	NM_000132.4(F8):c.4121_4124del (p.Ile1374fs)	F8 (I1374fs)	Deletion (frameshift variant)	Hereditary factor VIII deficiency disease	GPathogenic FDA Recognized database
Select item 1303376	NM_000132.4(F8):c.2732A>G (p.Asp911Gly)	F8 (D911G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 10246	NM_000132.4(F8):c.2167G>A (p.Ala723Thr)	F8 (A723T)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease +3 more	GPathogenic
Select item 810977	NM_000132.4(F8):c.2150G>A (p.Arg717Gln)	F8 (R717Q)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease +2 more	GPathogenic/Likely pathogenic
Select item 10245	NM_000132.4(F8):c.2149C>T (p.Arg717Trp)	F8 (R717W)	Single nucleotide variant (missense variant)	Thrombophilia, X-linked, due to factor 8 defect +4 more	GConflicting classifications of pathogenicity
Select item 368123	NM_000132.4(F8):c.1508G>A (p.Arg503His)	F8 (R503H)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GBenign FDA Recognized database
Select item 10171	NM_000132.4(F8):c.396A>C (p.Glu132Asp)	F8 (E132D)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity