C0008533[trait identifier] AND "NIHR Bioresource Rare Diseases, Univer - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 10573	NM_000133.4(F9):c.224G>A (p.Arg75Gln)	F9 (R75Q)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease +4 more	GPathogenic/Likely pathogenic
Select item 627180	NM_000133.4(F9):c.520+13A>G	F9	Single nucleotide variant (intron variant)	Hereditary factor IX deficiency disease +2 more	GConflicting classifications of pathogenicity
Select item 10585	NM_000133.4(F9):c.572G>A (p.Arg191His)	F9 (R191H +1 more)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GPathogenic FDA Recognized database
Select item 216926	NM_000133.4(F9):c.835G>A (p.Ala279Thr)	F9 (A279T +1 more)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GPathogenic FDA Recognized database
Select item 10602	NM_000133.4(F9):c.881G>A (p.Arg294Gln)	F9 (R294Q +1 more)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease +3 more	GPathogenic
Select item 812973	NM_000133.4(F9):c.914A>G (p.Tyr305Cys)	F9 (Y267C +1 more)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GLikely pathogenic
Select item 626950	NM_000133.4(F9):c.1009G>A (p.Ala337Thr)	F9 (A337T +1 more)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GPathogenic FDA Recognized database
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 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 10611	NM_000133.4(F9):c.1069G>A (p.Gly357Arg)	F9 (G357R +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease +1 more	GPathogenic/Likely pathogenic
Select item 626973	NM_000133.4(F9):c.1106T>C (p.Leu369Pro)	F9 (L369P +1 more)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease +2 more	GLikely pathogenic
Select item 10613	NM_000133.4(F9):c.1136G>A (p.Arg379Gln)	F9 (R341Q)	Single nucleotide variant (missense variant)	not specified +3 more	GPathogenic
Select item 626990	NM_000133.4(F9):c.1345C>T (p.Arg449Trp)	F9 (R449W +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease +4 more	GConflicting classifications of pathogenicity
Select item 627188	NM_000133.4(F9):c.*1157A>G	F9	Single nucleotide variant (3 prime UTR variant)	Hereditary factor IX deficiency disease +2 more	GPathogenic/Likely pathogenic
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 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 627121	NM_000132.4(F8):c.6920A>C (p.Asp2307Ala)	F8 (D2307A +1 more)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GLikely pathogenic
Select item 627116	NM_000132.4(F8):c.6776T>A (p.Val2259Asp)	F8 (V2259D +1 more)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GLikely pathogenic
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	GPathogenic FDA Recognized database
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 627356	NM_000132.4(F8):c.6592G>A (p.Gly2198Arg)	F8 (G2198R +1 more)	Single nucleotide variant (missense variant)	Hereditary factor IX 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)	Hereditary factor IX deficiency disease +2 more	GPathogenic/Likely pathogenic
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 10315	NM_000132.4(F8):c.6506G>A (p.Arg2169His)	F8 (R2169H +1 more)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease +2 more	GPathogenic
Select item 627110	NM_000132.4(F8):c.6437T>C (p.Phe2146Ser)	F8 (F2146S +1 more)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GLikely pathogenic
Select item 627109	NM_000132.4(F8):c.6434T>G (p.Phe2145Cys)	F8 (F2145C +1 more)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GPathogenic
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 627346	NM_000132.4(F8):c.6082G>A (p.Gly2028Arg)	F8 (G2028R)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GPathogenic
Select item 618098	NM_000132.4(F8):c.5954G>A (p.Arg1985Gln)	F8 (R1985Q)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease +2 more	GConflicting classifications of pathogenicity
Select item 627340	NM_000132.4(F8):c.5918A>T (p.His1973Leu)	F8 (H1973L)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GPathogenic
Select item 627338	NM_000132.4(F8):c.5896A>C (p.Met1966Leu)	F8 (M1966L)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GLikely pathogenic
Select item 10281	NM_000132.4(F8):c.5530C>T (p.Pro1844Ser)	F8 (P1844S)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GLikely pathogenic
Select item 627325	NM_000132.4(F8):c.5219+2T>C	F8	Single nucleotide variant (splice donor variant)	Hereditary factor IX deficiency disease	GLikely pathogenic
Select item 627324	NM_000132.4(F8):c.5217C>T (p.Asn1739=)	F8	Single nucleotide variant (synonymous variant)	Hereditary factor IX deficiency disease	GLikely pathogenic
Select item 627088	NM_000132.4(F8):c.5164G>A (p.Val1722Met)	F8 (V1722M)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GUncertain significance
Select item 627064	NM_000132.4(F8):c.4313dup (p.Ser1439fs)	F8 (S1439fs)	Duplication (frameshift variant)	Hereditary factor IX deficiency disease	GLikely pathogenic
Select item 627058	NM_000132.4(F8):c.3980C>T (p.Thr1327Met)	F8 (T1327M)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GUncertain significance
Select item 10253	NM_000132.4(F8):c.3637del (p.Ile1213fs)	F8 (I1213fs)	Deletion (frameshift variant)	Hereditary factor VIII deficiency disease	GPathogenic FDA Recognized database
Select item 627302	NM_000132.4(F8):c.3247_3248del (p.Met1083fs)	F8 (M1083fs)	Microsatellite (frameshift variant)	Hereditary factor IX deficiency disease	GLikely pathogenic
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 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 627176	NM_000132.4(F8):c.2099C>T (p.Ser700Leu)	F8 (S700L)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GLikely pathogenic
Select item 627033	NM_000132.4(F8):c.2043G>C (p.Met681Ile)	F8 (M681I)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GPathogenic
Select item 627270	NM_000132.4(F8):c.1898T>G (p.Met633Arg)	F8 (M633R)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GLikely pathogenic
Select item 627269	NM_000132.4(F8):c.1894del (p.Ile632fs)	F8 (I632fs)	Deletion (frameshift variant)	Hereditary factor IX deficiency disease	GLikely pathogenic
Select item 10236	NM_000132.4(F8):c.1834C>T (p.Arg612Cys)	F8 (R612C)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic FDA Recognized database
Select item 627259	NM_000132.4(F8):c.1804C>G (p.Arg602Gly)	F8 (R602G)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease +1 more	GPathogenic/Likely 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 627015	NM_000132.4(F8):c.1700T>C (p.Ile567Thr)	F8 (I567T)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease +1 more	GLikely pathogenic
Select item 627012	NM_000132.4(F8):c.1654T>C (p.Tyr552His)	F8 (Y552H)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GLikely pathogenic
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 627254	NM_000132.4(F8):c.1621A>T (p.Thr541Ser)	F8 (T541S)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GPathogenic
Select item 10217	NM_000132.4(F8):c.1492G>A (p.Gly498Arg)	F8 (G498R)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease +1 more	GPathogenic
Select item 626992	NM_000132.4(F8):c.1364T>G (p.Phe455Cys)	F8 (F455C)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GPathogenic
Select item 10111	NM_000132.4(F8):c.1172G>A (p.Arg391His)	F8 (R391H)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease +1 more	GPathogenic
Select item 618104	NM_000132.4(F8):c.1094A>G (p.Tyr365Cys)	F8 (Y365C)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic FDA Recognized database
Select item 626968	NM_000132.4(F8):c.1093T>C (p.Tyr365His)	F8 (Y365H)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GLikely pathogenic
Select item 626964	NM_000132.4(F8):c.1073dup (p.Asn358fs)	F8 (N358fs)	Duplication (frameshift variant)	Hereditary factor IX deficiency disease	GLikely pathogenic
Select item 627195	NM_000132.4(F8):c.1034T>C (p.Val345Ala)	F8 (V345A)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GLikely pathogenic
Select item 627191	NM_000132.4(F8):c.1020A>C (p.Glu340Asp)	F8 (E340D)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GPathogenic
Select item 627165	NM_000132.4(F8):c.979C>G (p.Leu327Val)	F8 (L327V)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic FDA Recognized database
Select item 10196	NM_000132.4(F8):c.935T>C (p.Phe312Ser)	F8 (F312S)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease +2 more	GPathogenic/Likely pathogenic
Select item 627407	NM_000132.4(F8):c.926C>T (p.Pro309Leu)	F8 (P309L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 627504	NM_000132.4(F8):c.671-50_787+50del	F8	Deletion (splice acceptor variant +1 more)	Hereditary factor IX deficiency disease	GLikely pathogenic
Select item 627370	NM_000132.4(F8):c.733C>T (p.Arg245Trp)	F8 (R245W)	Single nucleotide variant (missense variant)	Thrombophilia, X-linked, due to factor 8 defect +1 more	GPathogenic/Likely pathogenic
Select item 627182	NM_000132.4(F8):c.558C>A (p.Asp186Glu)	F8 (D186E)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GLikely pathogenic
Select item 10177	NM_000132.4(F8):c.541G>A (p.Val181Met)	F8 (V181M)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease +1 more	GPathogenic
Select item 627312	NM_000132.4(F8):c.460A>C (p.Thr154Pro)	F8 (T154P)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GLikely pathogenic
Select item 627238	NM_000132.4(F8):c.143G>A (p.Arg48Lys)	F8 (R48K)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GLikely pathogenic
Select item 627503	Single allele	F8	Complex	Hereditary factor IX deficiency disease	GLikely pathogenic

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Items: 72