F9[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2078226	NC_000023.11:g.139529943A>G	F9	Single nucleotide variant	Hereditary factor IX deficiency disease +1 more	GBenign
Select item 2078227	NC_000023.11:g.139530038T>C	F9	Single nucleotide variant	Hereditary factor IX deficiency disease +1 more	GBenign
Select item 658437	NC_000023.11:g.(?_139530701)_(139563439_?)del	F9	Deletion	Thrombophilia, X-linked, due to factor 9 defect +1 more	GPathogenic
Select item 10653	NC_000023.11:g.139530710G>C	F9	Single nucleotide variant	Hemophilia B Brandenburg	GPathogenic
Select item 10558	NC_000023.11:g.139530716T>A	F9	Single nucleotide variant	Hemophilia B leyden	GPathogenic
Select item 641767	NM_000133.4(F9):c.-35G>A	F9	Single nucleotide variant	Thrombophilia, X-linked, due to factor 9 defect +1 more	GPathogenic
Select item 847127	NM_000133.3(F9):c.-34A>G	F9	Single nucleotide variant	Thrombophilia, X-linked, due to factor 9 defect +1 more	GUncertain significance
Select item 10645	NC_000023.11:g.139530731A>T	F9	Single nucleotide variant (genic upstream transcript variant)	Hemophilia B leyden	GPathogenic
Select item 10631	NC_000023.11:g.(?_139530738)_(139530853_139537009)del	F9	Deletion	Hereditary factor IX deficiency disease	GPathogenic
Select item 10630	NC_000023.11:g.(?_139530739)_(139563459_?)del	F9	Deletion	Hereditary factor IX deficiency disease	GPathogenic
Select item 10644	NM_000133.4(F9):c.-22T>C	F9	Single nucleotide variant (5 prime UTR variant)	Hemophilia B leyden	GPathogenic
Select item 1490905	NM_000133.4(F9):c.-19C>G	F9	Single nucleotide variant (5 prime UTR variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GUncertain significance
Select item 10561	NM_000133.4(F9):c.-17del	F9	Deletion (5 prime UTR variant)	Hemophilia B leyden	GPathogenic
Select item 10646	NM_000133.4(F9):c.-17A>G	F9	Single nucleotide variant (5 prime UTR variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely pathogenic
Select item 537740	NC_000023.11:g.(?_139530759)_(139562076_?)del	F9	Deletion	Thrombophilia, X-linked, due to factor 9 defect +1 more	GPathogenic
Select item 2929110	NM_000133.4(F9):c.7C>A (p.Arg3Ser)	F9 (R3S)	Single nucleotide variant (missense variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely benign
Select item 765903	NM_000133.4(F9):c.7C>T (p.Arg3Cys)	F9 (R3C)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease +1 more	GBenign
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 1597084	NM_000133.4(F9):c.9C>G (p.Arg3=)	F9	Single nucleotide variant (synonymous variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely benign
Select item 799804	NM_000133.4(F9):c.9C>T (p.Arg3=)	F9	Single nucleotide variant (synonymous variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2046845	NM_000133.4(F9):c.15C>T (p.Asn5=)	F9	Single nucleotide variant (synonymous variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
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 2953975	NM_000133.4(F9):c.27A>C (p.Ala9=)	F9	Single nucleotide variant (synonymous variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 10656	NM_000133.4(F9):c.31T>A (p.Ser11Thr)	F9 (S11T)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GPathogenic
Select item 2125832	NM_000133.4(F9):c.36A>G (p.Pro12=)	F9	Single nucleotide variant (synonymous variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 812024	NM_000133.4(F9):c.38del (p.Gly13fs)	F9 (G13fs)	Deletion (frameshift variant)	not specified	GPathogenic
Select item 934532	NM_000133.4(F9):c.44T>A (p.Ile15Asn)	F9 (I15N)	Single nucleotide variant (missense variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GUncertain significance
Select item 1164738	NM_000133.4(F9):c.48C>A (p.Thr16=)	F9	Single nucleotide variant (synonymous variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GBenign
Select item 697610	NM_000133.4(F9):c.51C>T (p.Ile17=)	F9	Single nucleotide variant (synonymous variant)	Hereditary factor IX deficiency disease	GBenign FDA Recognized database
Select item 10568	NM_000133.4(F9):c.52T>C (p.Cys18Arg)	F9 (C18R)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GPathogenic
Select item 990711	NM_000133.4(F9):c.54C>T (p.Cys18=)	F9	Single nucleotide variant (synonymous variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely benign
Select item 701352	NM_000133.4(F9):c.60A>G (p.Leu20=)	F9	Single nucleotide variant (synonymous variant)	Hereditary factor IX deficiency disease	GBenign FDA Recognized database
Select item 2683971	NM_000133.4(F9):c.68T>C (p.Leu23Pro)	F9 (L23P)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GPathogenic
Select item 2290227	NM_000133.4(F9):c.76G>A (p.Ala26Thr)	F9 (A26T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 10570	NM_000133.4(F9):c.79G>A (p.Glu27Lys)	F9 (E27K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 10657	NM_000133.4(F9):c.82T>C (p.Cys28Arg)	F9 (C28R)	Single nucleotide variant (missense variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GPathogenic
Select item 2138734	NM_000133.4(F9):c.86C>T (p.Thr29Ile)	F9 (T29I)	Single nucleotide variant (missense variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely pathogenic
Select item 1330696	NM_000133.4(F9):c.87A>G (p.Thr29=)	F9	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 651569	NM_000133.4(F9):c.88G>A (p.Val30Ile)	F9 (V30I)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GLikely pathogenic FDA Recognized database
Select item 627400	NM_000133.4(F9):c.88G>C (p.Val30Leu)	F9 (V30L)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 811977	NM_000133.4(F9):c.88+5_88+8del	F9	Microsatellite (splice donor variant)	not specified	GLikely pathogenic
Select item 811508	NM_000133.4(F9):c.88+1G>T	F9	Single nucleotide variant (splice donor variant)	not specified	GPathogenic
Select item 627155	NM_000133.4(F9):c.88+1G>A	F9	Single nucleotide variant (splice donor variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 1413399	NM_000133.4(F9):c.88+2T>C	F9	Single nucleotide variant (splice donor variant)	Hereditary factor IX deficiency disease +1 more	GPathogenic
Select item 627156	NM_000133.4(F9):c.88+5G>T	F9	Single nucleotide variant (intron variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 2922334	NM_000133.4(F9):c.88+8T>C	F9	Single nucleotide variant (intron variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 1640487	NM_000133.4(F9):c.88+10_88+11del	F9	Deletion (intron variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 728838	NM_000133.4(F9):c.88+10C>G	F9	Single nucleotide variant (intron variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2936413	NM_000133.4(F9):c.88+16T>A	F9	Single nucleotide variant (intron variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely benign
Select item 2927400	NM_000133.4(F9):c.88+20A>T	F9	Single nucleotide variant (intron variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely benign
Select item 2775452	NM_000133.4(F9):c.88+75A>G	F9	Single nucleotide variant (intron variant)	Hereditary factor IX deficiency disease	GBenign FDA Recognized database
Select item 2926884	NM_000133.4(F9):c.89-20A>G	F9	Single nucleotide variant (intron variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely benign
Select item 2926606	NM_000133.4(F9):c.89-19T>A	F9	Single nucleotide variant (intron variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely benign
Select item 2952977	NM_000133.4(F9):c.89-14C>A	F9	Single nucleotide variant (intron variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely benign
Select item 2945052	NM_000133.4(F9):c.89-10del	F9	Deletion (intron variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GBenign
Select item 1912210	NM_000133.4(F9):c.89-9A>G	F9	Single nucleotide variant (intron variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely benign
Select item 794913	NM_000133.4(F9):c.89-7A>G	F9	Single nucleotide variant (intron variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely benign
Select item 2930840	NM_000133.4(F9):c.102T>C (p.His34=)	F9	Single nucleotide variant (synonymous variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 1078704	NM_000133.4(F9):c.106A>G (p.Asn36Asp)	F9 (N36D)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 367998	NM_000133.4(F9):c.108C>T (p.Asn36=)	F9	Single nucleotide variant (synonymous variant)	Hereditary factor IX deficiency disease	GBenign FDA Recognized database
Select item 804089	NM_000133.4(F9):c.109G>A (p.Ala37Thr)	F9 (A37T)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease +1 more	GBenign; association
Select item 10661	NM_000133.4(F9):c.110C>T (p.Ala37Val)	F9 (A37V)	Single nucleotide variant (missense variant)	Warfarin sensitivity, X-linked	GPathogenic
Select item 700669	NM_000133.4(F9):c.114C>T (p.Asn38=)	F9	Single nucleotide variant (synonymous variant)	Hereditary factor IX deficiency disease +1 more	GBenign
Select item 1160362	NM_000133.4(F9):c.116A>G (p.Lys39Arg)	F9 (K39R)	Single nucleotide variant (missense variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely benign
Select item 834544	NM_000133.4(F9):c.122T>G (p.Leu41Arg)	F9 (L41R)	Single nucleotide variant (missense variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GUncertain significance
Select item 811505	NM_000133.4(F9):c.127C>T (p.Arg43Trp)	F9 (R43W)	Single nucleotide variant (missense variant)	not specified +2 more	GPathogenic
Select item 993549	NM_000133.4(F9):c.128G>T (p.Arg43Leu)	F9 (R43L)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 810864	NM_000133.4(F9):c.128G>A (p.Arg43Gln)	F9 (R43Q)	Single nucleotide variant (missense variant)	not specified +3 more	GPathogenic
Select item 1114382	NM_000133.4(F9):c.129G>A (p.Arg43=)	F9	Single nucleotide variant (synonymous variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely benign
Select item 1085717	NM_000133.4(F9):c.130C>T (p.Pro44Ser)	F9 (P44S)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2170264	NM_000133.4(F9):c.135G>A (p.Lys45=)	F9	Single nucleotide variant (synonymous variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely benign
Select item 10565	NM_000133.4(F9):c.138G>Y (p.Arg46Ser)	F9 (R46S)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GPathogenic
Select item 1623620	NM_000133.4(F9):c.141T>C (p.Tyr47=)	F9	Single nucleotide variant (synonymous variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely benign
Select item 375451	NM_000133.4(F9):c.141T>A (p.Tyr47Ter)	F9 (Y47*)	Single nucleotide variant (nonsense)	Hereditary factor IX deficiency disease	GLikely pathogenic
Select item 2925690	NM_000133.4(F9):c.142A>G (p.Asn48Asp)	F9 (N48D)	Single nucleotide variant (missense variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GPathogenic
Select item 973812	NM_000133.4(F9):c.142A>T (p.Asn48Tyr)	F9 (N48Y)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GPathogenic
Select item 454495	NM_000133.4(F9):c.148G>A (p.Gly50Ser)	F9 (G50S)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease +1 more	GPathogenic
Select item 1524877	NM_000133.4(F9):c.149G>C (p.Gly50Ala)	F9 (G50A)	Single nucleotide variant (missense variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely pathogenic
Select item 1120821	NM_000133.4(F9):c.154T>C (p.Leu52=)	F9	Single nucleotide variant (synonymous variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely benign
Select item 618117	NM_000133.4(F9):c.161A>T (p.Glu54Val)	F9 (E54V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1509808	NM_000133.4(F9):c.163T>C (p.Phe55Leu)	F9 (F55L)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease +1 more	GUncertain significance
Select item 1069182	NM_000133.4(F9):c.163T>A (p.Phe55Ile)	F9 (F55I)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease +1 more	GPathogenic
Select item 10567	NM_000133.4(F9):c.169C>T (p.Gln57Ter)	F9 (Q57*)	Single nucleotide variant (nonsense)	Hereditary factor IX deficiency disease	GPathogenic
Select item 2188285	NM_000133.4(F9):c.177C>T (p.Asn59=)	F9	Single nucleotide variant (synonymous variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 994375	NM_000133.4(F9):c.177C>A (p.Asn59Lys)	F9 (N59K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1513343	NM_000133.4(F9):c.182A>G (p.Glu61Gly)	F9 (E61G)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease +1 more	GUncertain significance
Select item 811403	NM_000133.4(F9):c.189A>C (p.Glu63Asp)	F9 (E63D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 811523	NM_000133.4(F9):c.190T>C (p.Cys64Arg)	F9 (C64R)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely pathogenic
Select item 1076388	NM_000133.4(F9):c.191G>A (p.Cys64Tyr)	F9 (C64Y)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease +1 more	GPathogenic
Select item 1095482	NM_000133.4(F9):c.192T>C (p.Cys64=)	F9	Single nucleotide variant (synonymous variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2418772	NM_000133.4(F9):c.194T>C (p.Met65Thr)	F9 (M65T)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease +1 more	GUncertain significance
Select item 618643	NM_000133.4(F9):c.196G>A (p.Glu66Lys)	F9 (E66K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1927628	NM_000133.4(F9):c.201A>G (p.Glu67=)	F9	Single nucleotide variant (synonymous variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 1330991	NM_000133.4(F9):c.205T>A (p.Cys69Ser)	F9 (C69S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 994405	NM_000133.4(F9):c.206G>A (p.Cys69Tyr)	F9 (C69Y)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 973815	NM_000133.4(F9):c.214G>T (p.Glu72Ter)	F9 (E72*)	Single nucleotide variant (nonsense)	Hereditary factor IX deficiency disease	GPathogenic
Select item 10571	NM_000133.4(F9):c.218A>T (p.Glu73Val)	F9 (E73V)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GPathogenic
Select item 10572	NM_000133.4(F9):c.223C>T (p.Arg75Ter)	F9 (R75*)	Single nucleotide variant (nonsense)	Hereditary factor IX deficiency disease	GPathogenic FDA Recognized database
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 811519	NM_000133.4(F9):c.226G>A (p.Glu76Lys)	F9 (E76K)	Single nucleotide variant (missense variant)	not specified	GPathogenic

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