C0019069[trait identifier] AND "Center for Genomic Medicine, King Fais - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 10607	NM_000133.4(F9):c.1025C>T (p.Thr342Met)	F9 (T342M +1 more)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GPathogenic FDA Recognized database
Select item 1098499	NM_000132.4(F8):c.6834G>T (p.Glu2278Asp)	F8 (E143D +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 1098500	NM_000132.4(F8):c.6709G>T (p.Ala2237Ser)	F8 (A102S +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 1098501	NM_000132.4(F8):c.6678del (p.Ala2227fs)	F8 (A2227fs +1 more)	Deletion (frameshift variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 1098502	NM_000132.4(F8):c.6322G>C (p.Ala2108Pro)	F8 (A2108P)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 1177425	NM_000132.4(F8):c.6123G>C (p.Gln2041His)	F8 (Q2041H)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 1098526	NM_000132.4(F8):c.5863C>G (p.Gln1955Glu)	F8 (Q1955E)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 1098527	NM_000132.4(F8):c.5816-2A>G	F8	Single nucleotide variant (splice acceptor variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 811810	NM_000132.4(F8):c.5815G>C (p.Ala1939Pro)	F8 (A1939P)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GConflicting classifications of pathogenicity
Select item 1098528	NM_000132.4(F8):c.5267A>T (p.Glu1756Val)	F8 (E1756V)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3068228	NM_000132.4(F8):c.5218A>G (p.Arg1740Gly)	F8 (R1740G)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 1098529	NM_000132.4(F8):c.5005A>G (p.Ile1669Val)	F8 (I1669V)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GUncertain significance
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 1098530	NM_000132.4(F8):c.3780del (p.Asp1260fs)	F8 (D1260fs)	Deletion (frameshift variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 1098531	NM_000132.4(F8):c.3744A>T (p.Leu1248Phe)	F8 (L1248F)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3065190	NM_000132.4(F8):c.3385C>T (p.Gln1129Ter)	F8 (Q1129*)	Single nucleotide variant (nonsense)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 1098532	NM_000132.4(F8):c.3266C>A (p.Ser1089Ter)	F8 (S1089*)	Single nucleotide variant (nonsense)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 1098533	NM_000132.4(F8):c.3144G>T (p.Trp1048Cys)	F8 (W1048C)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 1098534	NM_000132.4(F8):c.2776C>T (p.Pro926Ser)	F8 (P926S)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 1098535	NM_000132.4(F8):c.2573C>T (p.Pro858Leu)	F8 (P858L)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GUncertain significance
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 1098536	NM_000132.4(F8):c.1969T>C (p.Tyr657His)	F8 (Y657H)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 1098537	NM_000132.4(F8):c.1724A>C (p.Lys575Thr)	F8 (K575T)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3067956	NM_000132.4(F8):c.670+5G>A	F8	Single nucleotide variant (intron variant)	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 1098538	NM_000132.4(F8):c.494del (p.Pro165fs)	F8 (P165fs)	Deletion (frameshift variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 1098539	NM_000132.4(F8):c.255dup (p.Pro86fs)	F8 (P86fs)	Duplication (frameshift variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 1098540	NM_000132.4(F8):c.233del (p.Phe78fs)	F8 (F78fs)	Deletion (frameshift variant)	Hereditary factor VIII deficiency disease	GPathogenic

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Items: 27