ClinVar for MedGen (Select 5501) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236409	NM_000132.4(F8):c.5297T>A (p.Leu1766Ter)	F8 (L1766*)	Single nucleotide variant (nonsense)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 3075898	NM_000132.4(F8):c.5453dup (p.Ala1819fs)	F8 (A1819fs)	Duplication (frameshift variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 3068756	NC_000023.10:g.(154134849_154156845)_(154159952_154175972)dup	F8	Duplication	Hereditary factor VIII deficiency disease	GPathogenic
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 3067956	NM_000132.4(F8):c.670+5G>A	F8	Single nucleotide variant (intron variant)	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3067175	NM_000132.4(F8):c.784C>G (p.Pro262Ala)	F8 (P262A)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
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 3063723	NM_000132.4(F8):c.1658C>G (p.Ser553Cys)	F8 (S553C)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 3062302	NM_000132.4(F8):c.476T>A (p.Val159Asp)	F8 (V159D)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 3062175	NM_000132.4(F8):c.5306G>A (p.Gly1769Glu)	F8 (G1769E)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 2775450	NM_000132.4(F8):c.6429+2T>A	F8	Single nucleotide variant (splice donor variant)	Hereditary factor VIII deficiency disease	GPathogenic FDA Recognized database
Select item 2775449	NM_000132.4(F8):c.686C>A (p.Ser229Ter)	F8 (S229*)	Single nucleotide variant (nonsense)	Hereditary factor VIII deficiency disease	GPathogenic FDA Recognized database
Select item 2775448	NM_000132.4(F8):c.1701del (p.Ile567fs)	F8 (I567fs)	Deletion (frameshift variant)	Hereditary factor VIII deficiency disease	GPathogenic FDA Recognized database
Select item 2775447	NM_000132.4(F8):c.5488G>T (p.Glu1830Ter)	F8 (E1830*)	Single nucleotide variant (nonsense)	Hereditary factor VIII deficiency disease	GPathogenic FDA Recognized database
Select item 2775446	NM_000132.4(F8):c.1372C>T (p.Arg458Cys)	F8 (R458C)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic FDA Recognized database
Select item 2775445	NM_000132.4(F8):c.2087C>T (p.Thr696Ile)	F8 (T696I)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic FDA Recognized database
Select item 2775444	NM_000132.4(F8):c.1899G>T (p.Met633Ile)	F8 (M633I)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic FDA Recognized database
Select item 2691578	NC_000023.10:g.(154159952_154175972)_(154197828_154212961)del	F8	Deletion	Hereditary factor VIII deficiency disease	GPathogenic
Select item 2691377	NC_000023.10:g.(154133299_154134694)_(154134849_154156845)del	F8	Deletion	Hereditary factor VIII deficiency disease	GPathogenic
Select item 2691330	NM_000132.4(F8):c.412del (p.Ser138fs)	F8 (S138fs)	Deletion (frameshift variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 2683964	NM_000132.4(F8):c.6454T>C (p.Ser2152Pro)	F8 (S17P +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 2683963	NM_000132.4(F8):c.6821T>C (p.Met2274Thr)	F8 (M139T +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 2683573	NM_000132.4(F8):c.5101G>A (p.Glu1701Lys)	F8 (E1701K)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 2682352	NM_000132.4(F8):c.3137C>A (p.Ser1046Ter)	F8 (S1046*)	Single nucleotide variant (nonsense)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 2682202	NM_000132.4(F8):c.5561G>A (p.Trp1854Ter)	F8 (W1854*)	Single nucleotide variant (nonsense)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 2664820	NM_000132.4(F8):c.102C>G (p.Asp34Glu)	F8 (D34E)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 2664817	NM_000132.4(F8):c.6710C>T (p.Ala2237Val)	F8 (A102V +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 2664071	NM_000132.4(F8):c.6325C>T (p.Arg2109Cys)	F8 (R2109C)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 2637908	NM_000132.4(F8):c.1120del (p.Met374fs)	F8 (M374fs)	Deletion (frameshift variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 2637904	NM_000132.4(F8):c.745A>T (p.Lys249Ter)	F8 (K249*)	Single nucleotide variant (nonsense)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 2637903	NM_000132.4(F8):c.2717C>G (p.Ser906Ter)	F8 (S906*)	Single nucleotide variant (nonsense)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 2637902	NM_000132.4(F8):c.836T>G (p.Met279Arg)	F8 (M279R)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 2637834	NM_000132.4(F8):c.6505C>T (p.Arg2169Cys)	F8 (R2169C +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 2627489	NM_000132.4(F8):c.1405G>T (p.Gly469Ter)	F8 (G469*)	Single nucleotide variant (nonsense)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 2627426	NM_000132.4(F8):c.1904-2A>G	F8	Single nucleotide variant (splice acceptor variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 2627274	NC_000023.10:g.(154091503_154124351)_(154227876_154250684)dup	F8, F8A1 +1 more	Duplication	Hereditary factor VIII deficiency disease	GPathogenic
Select item 2585117	NM_000132.4(F8):c.1727A>T (p.Glu576Val)	F8 (E576V)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 2582770	NM_000132.4(F8):c.5132A>C (p.Gln1711Pro)	F8 (Q1711P)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 2579134	NM_000132.4(F8):c.683A>C (p.His228Pro)	F8 (H228P)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 2572150	NM_000132.4(F8):c.2T>A (p.Met1Lys)	F8 (M1K)	Single nucleotide variant (missense variant +1 more)	Hereditary factor VIII deficiency disease	GUncertain significance
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 2444299	NM_000132.4(F8):c.3300dup (p.Glu1101fs)	F8 (E1101fs)	Duplication (frameshift variant)	Hereditary factor VIII deficiency disease	GPathogenic
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 2444263	NM_000132.4(F8):c.1180del (p.Ala394fs)	F8 (A394fs)	Deletion (frameshift 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 2444217	NM_000132.4(F8):c.5939_5940del (p.His1980fs)	F8 (H1980fs)	Deletion (frameshift variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
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 2444210	NM_000132.4(F8):c.5994del (p.Pro1999fs)	F8 (P1999fs)	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 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 2444111	NM_000132.4(F8):c.6115+2T>C	F8	Single nucleotide variant (splice donor variant)	Hereditary factor VIII deficiency disease	GPathogenic
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 2441958	NM_000132.4(F8):c.3213G>A (p.Met1071Ile)	F8 (M1071I)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 2136884	NM_022124.6(CDH23):c.5101G>A (p.Glu1701Lys)	CDH23 (E1701K)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease +2 more	GLikely pathogenic
Select item 1992368	NM_000132.4(F8):c.2045T>C (p.Val682Ala)	F8 (V682A)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 1803284	NM_000132.4(F8):c.335C>T (p.Ser112Phe)	F8 (S112F)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease +1 more	GLikely pathogenic
Select item 1803277	NM_000552.5(VWF):c.2308C>T (p.Pro770Ser)	VWF (P770S)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 1803275	NM_000132.4(F8):c.6052G>A (p.Glu2018Lys)	F8 (E2018K)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 1803245	NM_000132.4(F8):c.557A>G (p.Asp186Gly)	F8 (D186G)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 1803240	NM_000132.4(F8):c.6273G>C (p.Lys2091Asn)	F8 (K2091N)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 1803219	NM_000132.4(F8):c.5853A>T (p.Leu1951Phe)	F8 (L1951F)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 1803181	NM_000132.4(F8):c.6362T>A (p.Ile2121Asn)	F8 (I2121N)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 1803133	NM_000132.4(F8):c.1907T>C (p.Ile636Thr)	F8 (I636T)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 1803126	NM_000132.4(F8):c.5853A>C (p.Leu1951Phe)	F8 (L1951F)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
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 1704288	NM_000132.4(F8):c.4072C>T (p.Gln1358Ter)	F8 (Q1358*)	Single nucleotide variant (nonsense)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 1703846	NM_000132.4(F8):c.5883G>A (p.Trp1961Ter)	F8 (W1961*)	Single nucleotide variant (nonsense)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 1703845	NM_000132.4(F8):c.897_898insAAGGCGTCGC (p.His300fs)	F8 (H300fs)	Insertion (frameshift variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 1699285	NM_000132.4(F8):c.2163G>T (p.Met721Ile)	F8 (M721I)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 1698931	NM_000132.4(F8):c.6119G>A (p.Cys2040Tyr)	F8 (C2040Y)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 1698863	NM_000132.4(F8):c.5302C>T (p.Arg1768Cys)	F8 (R1768C)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic/Likely pathogenic
Select item 1698819	NM_000132.4(F8):c.1203G>A (p.Trp401Ter)	F8 (W401*)	Single nucleotide variant (nonsense)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 1698786	NM_000132.4(F8):c.1443+2T>G	F8	Single nucleotide variant (splice donor variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 1698783	NM_000132.4(F8):c.967G>A (p.Gly323Arg)	F8 (G323R)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 1698782	NM_000132.4(F8):c.5855T>A (p.Val1952Glu)	F8 (V1952E)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 1698780	NM_000132.4(F8):c.671-1G>A	F8	Single nucleotide variant (splice acceptor variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 1698775	NM_000132.4(F8):c.5150_5151del (p.Tyr1717fs)	F8 (Y1717fs)	Deletion (frameshift variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 1698749	NM_000132.4(F8):c.5582A>G (p.Asp1861Gly)	F8 (D1861G)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 1698740	NM_000132.4(F8):c.5999G>C (p.Gly2000Ala)	F8 (G2000A)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 1685799	NM_000132.4(F8):c.1337G>A (p.Arg446Gln)	F8 (R446Q)	Single nucleotide variant (missense variant)	Thrombophilia, X-linked, due to factor 8 defect +1 more	GUncertain significance
Select item 1685797	NM_000132.4(F8):c.2840C>G (p.Pro947Arg)	F8 (P947R)	Single nucleotide variant (missense variant)	Thrombophilia, X-linked, due to factor 8 defect +1 more	GConflicting classifications of pathogenicity
Select item 1685791	NM_000132.4(F8):c.4828G>T (p.Ala1610Ser)	F8 (A1610S)	Single nucleotide variant (missense variant)	Thrombophilia, X-linked, due to factor 8 defect +1 more	GConflicting classifications of pathogenicity
Select item 1685790	NM_000132.4(F8):c.5144G>A (p.Arg1715Gln)	F8 (R1715Q)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1685784	NM_000132.4(F8):c.5999-11G>A	F8	Single nucleotide variant (intron variant)	Thrombophilia, X-linked, due to factor 8 defect +2 more	GConflicting classifications of pathogenicity
Select item 1684385	NM_000132.4(F8):c.248C>G (p.Pro83Arg)	F8 (P83R)	Single nucleotide variant (missense variant)	F8-related disorder	GUncertain significance
Select item 1684384	NM_000132.4(F8):c.308T>C (p.Val103Ala)	F8 (V103A)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 1684383	NM_000132.4(F8):c.460A>G (p.Thr154Ala)	F8 (T154A)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 1684381	NM_000132.4(F8):c.509C>T (p.Pro170Leu)	F8 (P170L)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 1684379	NM_000132.4(F8):c.6047G>A (p.Arg2016Gln)	F8 (R2016Q)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1684378	NM_000132.4(F8):c.6617A>G (p.Asp2206Gly)	F8 (D2206G +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 1684377	NM_000132.4(F8):c.6968G>C (p.Arg2323Pro)	F8 (R188P +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 1684376	NM_000132.4(F8):c.901C>T (p.Arg301Cys)	F8 (R301C)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 1679506	NM_000132.4(F8):c.1696C>T (p.Leu566Phe)	F8 (L566F)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 1679467	NM_000132.4(F8):c.5576A>T (p.Asp1859Val)	F8 (D1859V)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 1679464	NM_000132.4(F8):c.2618G>A (p.Gly873Asp)	F8 (G873D)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 1679449	NM_000132.4(F8):c.853G>A (p.Val285Met)	F8 (V285M)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 1677257	NM_000132.4(F8):c.2150G>T (p.Arg717Leu)	F8 (R717L)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GConflicting classifications of pathogenicity
Select item 1677256	NM_000132.4(F8):c.1930T>G (p.Leu644Val)	F8 (L644V)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 1676743	NM_000132.4(F8):c.5506T>C (p.Trp1836Arg)	F8 (W1836R)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 1342157	NM_000132.4(F8):c.1169T>C (p.Ile390Thr)	F8 (I390T)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic

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