C0008533[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 695909	NM_000133.4(F9):c.8G>A (p.Arg3His)	F9 (R3H)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GBenign FDA Recognized database
Select item 367997	NM_000133.4(F9):c.19A>T (p.Ile7Phe)	F9 (I7F)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GBenign FDA Recognized database
Select item 10573	NM_000133.4(F9):c.224G>A (p.Arg75Gln)	F9 (R75Q)	Single nucleotide variant (missense variant)	Thrombophilia, X-linked, due to factor 9 defect +4 more	GPathogenic/Likely pathogenic
Select item 1170617	NM_000133.4(F9):c.278-27A>G	F9	Single nucleotide variant (intron variant)	Hereditary factor IX deficiency disease +2 more	GBenign/Likely benign
Select item 10579	NM_000133.4(F9):c.316G>A (p.Gly106Ser)	F9 (G106S)	Single nucleotide variant (missense variant +1 more)	Hereditary factor IX deficiency disease	GPathogenic FDA Recognized database
Select item 368001	NM_000133.4(F9):c.658T>A (p.Ser220Thr)	F9 (S220T +1 more)	Single nucleotide variant (missense variant)	Warfarin sensitivity, X-linked +3 more	GBenign/Likely benign
Select item 10641	NM_000133.4(F9):c.907C>T (p.His303Tyr)	F9 (H303Y +1 more)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease +3 more	GBenign/Likely benign
Select item 695891	NM_000133.4(F9):c.967G>A (p.Glu323Lys)	F9 (E323K +1 more)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease +3 more	GBenign/Likely benign
Select item 812974	NM_000133.4(F9):c.1024A>G (p.Thr342Ala)	F9 (T342A +1 more)	Single nucleotide variant (missense variant)	Thrombophilia, X-linked, due to factor 9 defect +2 more	GLikely pathogenic
Select item 368006	NM_000133.4(F9):c.*293C>T	F9	Single nucleotide variant (3 prime UTR variant)	Hereditary factor IX deficiency disease +2 more	GUncertain significance
Select item 439683	NM_000132.4(F8):c.6089G>A (p.Ser2030Asn)	F8 (S2030N)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease +4 more	GPathogenic/Likely pathogenic
Select item 10246	NM_000132.4(F8):c.2167G>A (p.Ala723Thr)	F8 (A723T)	Single nucleotide variant (missense variant)	Thrombophilia, X-linked, due to factor 8 defect +3 more	GPathogenic
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