"3billion"[submitter] AND "F8"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2444177	NM_000132.4(F8):c.6900+1G>C	F8	Single nucleotide variant (splice donor variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 1705467	NM_000132.4(F8):c.6375T>A (p.Ser2125Arg)	F8 (S2125R)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 2444267	NM_000132.4(F8):c.6274-2A>G	F8	Single nucleotide variant (splice acceptor variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 2444111	NM_000132.4(F8):c.6115+2T>C	F8	Single nucleotide variant (splice donor variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 2444210	NM_000132.4(F8):c.5994del (p.Pro1999fs)	F8 (P1999fs)	Deletion (frameshift variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 2444217	NM_000132.4(F8):c.5939_5940del (p.His1980fs)	F8 (H1980fs)	Deletion (frameshift variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 2444184	NM_000132.4(F8):c.5586+2T>C	F8	Single nucleotide variant (splice donor variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 2444251	NM_000132.4(F8):c.5290C>T (p.Gln1764Ter)	F8 (Q1764*)	Single nucleotide variant (nonsense)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10261	NM_000132.4(F8):c.4379del (p.Asn1460fs)	F8 (N1460fs)	Deletion (frameshift variant)	Hereditary factor VIII deficiency disease	GPathogenic/Likely pathogenic
Select item 2444299	NM_000132.4(F8):c.3300dup (p.Glu1101fs)	F8 (E1101fs)	Duplication (frameshift variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 1333301	NM_000132.4(F8):c.2974_2977del (p.Phe992fs)	F8 (F992fs)	Deletion (frameshift variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 10249	NM_000132.4(F8):c.2945dup (p.Asn982fs)	F8 (N982fs)	Duplication (frameshift variant)	Hereditary factor VIII deficiency disease	GPathogenic
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 1330638	NM_000132.4(F8):c.2048A>G (p.Tyr683Cys)	F8 (Y683C)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 2444429	NM_000132.4(F8):c.2043G>A (p.Met681Ile)	F8 (M681I)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 10232	NM_000132.4(F8):c.1804C>T (p.Arg602Ter)	F8 (R602*)	Single nucleotide variant (nonsense)	Hereditary factor VIII deficiency disease	GPathogenic FDA Recognized database
Select item 2444028	NM_000132.4(F8):c.1712T>G (p.Leu571Arg)	F8 (L571R)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 10222	NM_000132.4(F8):c.1636C>T (p.Arg546Trp)	F8 (R546W)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease +2 more	GPathogenic/Likely pathogenic
Select item 439678	NM_000132.4(F8):c.1569G>T (p.Leu523=)	F8	Single nucleotide variant (synonymous variant)	Hereditary factor VIII deficiency disease +1 more	GPathogenic
Select item 2444263	NM_000132.4(F8):c.1180del (p.Ala394fs)	F8 (A394fs)	Deletion (frameshift variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 10139	NM_000132.4(F8):c.1063C>T (p.Arg355Ter)	F8 (R355*)	Single nucleotide variant (nonsense)	Hereditary factor VIII deficiency disease	GPathogenic FDA Recognized database
Select item 2444211	NM_000132.4(F8):c.755_756del (p.Thr252fs)	F8 (T252fs)	Microsatellite (frameshift variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10152	NM_000132.4(F8):c.43C>T (p.Arg15Ter)	F8 (R15*)	Single nucleotide variant (nonsense)	Hereditary factor VIII deficiency disease +1 more	GPathogenic

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Items: 23