ClinVar for Gene (Select 2158) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 784

<< First< Prev

Page of 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3511329	NM_000133.4(F9):c.1252G>C (p.Glu418Gln)	F9 (E380Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3511328	NM_000133.4(F9):c.1381A>G (p.Thr461Ala)	F9 (T423A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3392245	GRCh37/hg19 Xq27.1(chrX:138488239-139021500)x3	ATP11C, F9 +1 more	Copy number gain	not provided	GUncertain significance
Select item 3391804	NM_000133.4(F9):c.1338G>C (p.Lys446Asn)	F9 (K408N +1 more)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GLikely pathogenic
Select item 3390364	NM_000133.4(F9):c.969_975del (p.Pro324fs)	F9 (P286fs +1 more)	Deletion (frameshift variant)	Hereditary factor IX deficiency disease	GPathogenicFDA Recognized database
Select item 3390363	NM_000133.4(F9):c.953T>G (p.Leu318Arg)	F9 (L280R +1 more)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GLikely pathogenicFDA Recognized database
Select item 3390362	NM_000133.4(F9):c.952C>T (p.Leu318Phe)	F9 (L280F +1 more)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GPathogenicFDA Recognized database
Select item 3385073	NM_000133.4(F9):c.149G>A (p.Gly50Asp)	F9 (G50D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3385044	NM_000133.4(F9):c.941A>G (p.His314Arg)	F9 (H276R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3384729	NM_000133.4(F9):c.838+3A>G	F9	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3382308	NM_000133.4(F9):c.827_828del (p.Thr276fs)	F9 (T238fs +1 more)	Deletion (frameshift variant)	Hereditary factor IX deficiency disease	GLikely pathogenic
Select item 3380935	NM_000133.4(F9):c.1282A>T (p.Ile428Phe)	F9 (I390F +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3380934	NM_000133.4(F9):c.688G>C (p.Gly230Arg)	F9 (G192R +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3380933	NM_000133.4(F9):c.458T>C (p.Val153Ala)	F9 (V115A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3380932	NM_000133.4(F9):c.265A>T (p.Lys89Ter)	F9 (K89*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3375053	NM_000133.4(F9):c.808G>A (p.Glu270Lys)	F9 (E232K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3374935	NM_000133.4(F9):c.221C>G (p.Ala74Gly)	F9 (A74G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	IGBP1, IGSF1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3364993	NM_000133.4(F9):c.204G>C (p.Lys68Asn)	F9 (K68N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3354182	NM_000133.4(F9):c.22A>G (p.Met8Val)	F9 (M8V)	Single nucleotide variant (missense variant)	F9-related disorder	GUncertain significance
Select item 3347354	NM_000133.4(F9):c.26C>G (p.Ala9Gly)	F9 (A9G)	Single nucleotide variant (missense variant)	F9-related disorder	GUncertain significance
Select item 3345076	NM_000133.4(F9):c.497del (p.Asn166fs)	F9 (N128fs +1 more)	Deletion (frameshift variant)	F9-related disorder	GPathogenic
Select item 3340055	NM_000133.4(F9):c.136A>T (p.Arg46Trp)	F9 (R46W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339348	NM_000133.4(F9):c.177C>G (p.Asn59Lys)	F9 (N59K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339010	NM_000133.4(F9):c.1372del (p.Thr458fs)	F9 (T420fs +1 more)	Deletion (frameshift variant)	Hereditary factor IX deficiency disease	GLikely pathogenic
Select item 3338825	NM_000133.4(F9):c.1225G>A (p.Gly409Arg)	F9 (G371R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3338594	NM_000133.4(F9):c.61G>A (p.Gly21Arg)	F9 (G21R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3336174	NM_000133.4(F9):c.284A>G (p.Asp95Gly)	F9 (D95G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3251446	NM_000133.4(F9):c.1097C>A (p.Ala366Asp)	F9 (A328D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251183	NM_000133.4(F9):c.1353C>T (p.Val451=)	F9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3245273	NC_000023.10:g.(?_138633201)_(138633443_?)del	F9	Deletion	Hereditary factor IX deficiency disease +1 more	GPathogenic
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3242390	NM_000133.4(F9):c.1359G>A (p.Trp453Ter)	F9 (W415* +1 more)	Single nucleotide variant (nonsense)	Hereditary factor IX deficiency disease	GPathogenicFDA Recognized database
Select item 3242389	NM_000133.4(F9):c.1010C>T (p.Ala337Val)	F9 (A299V +1 more)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GPathogenicFDA Recognized database
Select item 3242388	NM_000133.4(F9):c.1303T>A (p.Cys435Ser)	F9 (C397S +1 more)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GUncertain significanceFDA Recognized database
Select item 3242387	NM_000133.4(F9):c.1303T>C (p.Cys435Arg)	F9 (C397R +1 more)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GUncertain significanceFDA Recognized database
Select item 3242386	NM_000133.4(F9):c.1304G>T (p.Cys435Phe)	F9 (C397F +1 more)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GUncertain significanceFDA Recognized database
Select item 3242385	NM_000133.4(F9):c.1303T>G (p.Cys435Gly)	F9 (C397G +1 more)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GLikely pathogenicFDA Recognized database
Select item 3242384	NM_000133.4(F9):c.1325G>T (p.Gly442Val)	F9 (G404V +1 more)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GLikely pathogenicFDA Recognized database
Select item 3242383	NM_000133.4(F9):c.1325G>C (p.Gly442Ala)	F9 (G404A +1 more)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GLikely pathogenicFDA Recognized database
Select item 3242382	NM_000133.4(F9):c.1235G>C (p.Gly412Ala)	F9 (G374A +1 more)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GUncertain significanceFDA Recognized database
Select item 3233615	NM_000133.4(F9):c.1336A>C (p.Lys446Gln)	F9 (K408Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148933	GRCh37/hg19 Xq27.1(chrX:138008382-139412040)x3	ATP11C, CXorf66 +3 more	Copy number gain	not provided	GUncertain significance
Select item 3148884	GRCh37/hg19 Xq25-28(chrX:125253445-155233098)x1	PRR32, ABCD1 +215 more	Copy number loss	See cases	GPathogenic
Select item 3148864	GRCh37/hg19 Xq25-28(chrX:121656905-155233098)x1	SLITRK2, SLITRK4 +221 more	Copy number loss	not provided	GPathogenic
Select item 3068760	NM_000133.4(F9):c.277+5G>A	F9	Single nucleotide variant (intron variant)	Hereditary factor IX deficiency disease	GLikely pathogenic
Select item 3062561	GRCh37/hg19 Xq26.3-27.3(chrX:137551658-145685497)	ATP11C, CDR1 +21 more	Copy number loss	not specified	GUncertain significance
Select item 3062491	GRCh37/hg19 Xq24-28(chrX:119395676-154930047)	TAFAZZIN, TENM1 +241 more	Copy number loss	not specified	GPathogenic
Select item 3062473	GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	ABCD1, ACSL4 +321 more	Copy number loss	not specified	GPathogenic
Select item 3031019	NM_000133.4(F9):c.595G>A (p.Val199Met)	F9 (V161M +1 more)	Single nucleotide variant (missense variant)	F9-related disorder	GUncertain significance
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	CT47A4, ERCC6L +488 more	Copy number gain	not provided	GPathogenic
Select item 2954294	NM_000133.4(F9):c.1292G>T (p.Trp431Leu)	F9 (W393L +1 more)	Single nucleotide variant (missense variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GUncertain significance
Select item 2953975	NM_000133.4(F9):c.27A>C (p.Ala9=)	F9	Single nucleotide variant (synonymous variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely benign
Select item 2953612	NM_000133.4(F9):c.885T>C (p.Asn295=)	F9	Single nucleotide variant (synonymous variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely benign
Select item 2953113	NM_000133.4(F9):c.1213G>T (p.Asp405Tyr)	F9 (D367Y +1 more)	Single nucleotide variant (missense variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GUncertain significance
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 2952211	NM_000133.4(F9):c.339T>C (p.Asn113=)	F9	Single nucleotide variant (synonymous variant +1 more)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely benign
Select item 2951313	NM_000133.4(F9):c.278-13A>C	F9	Single nucleotide variant (intron variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely benign
Select item 2950894	NM_000133.4(F9):c.948T>C (p.Ile316=)	F9	Single nucleotide variant (synonymous variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely benign
Select item 2950890	NM_000133.4(F9):c.391+9C>G	F9	Single nucleotide variant (intron variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely benign
Select item 2950284	NM_000133.4(F9):c.1161del (p.Lys387fs)	F9 (K349fs +1 more)	Deletion (frameshift variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GPathogenic
Select item 2949892	NM_000133.4(F9):c.963G>T (p.Leu321=)	F9	Single nucleotide variant (synonymous variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2949681	NM_000133.4(F9):c.1002T>A (p.Ile334=)	F9	Single nucleotide variant (synonymous variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2948905	NM_000133.4(F9):c.1296T>C (p.Gly432=)	F9	Single nucleotide variant (synonymous variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2946955	NM_000133.4(F9):c.253-8C>T	F9	Single nucleotide variant (intron variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2946811	NM_000133.4(F9):c.444T>C (p.Ser148=)	F9	Single nucleotide variant (synonymous variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2946771	NM_000133.4(F9):c.1073G>C (p.Arg358Thr)	F9 (R320T +1 more)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease +1 more	GUncertain significance
Select item 2946567	NM_000133.4(F9):c.504G>A (p.Lys168=)	F9	Single nucleotide variant (synonymous variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2945637	NM_000133.4(F9):c.744T>A (p.Val248=)	F9	Single nucleotide variant (synonymous variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2945052	NM_000133.4(F9):c.89-10del	F9	Deletion (intron variant)	Hereditary factor IX deficiency disease +1 more	GBenign
Select item 2944252	NM_000133.4(F9):c.252+20A>G	F9	Single nucleotide variant (intron variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2943870	NM_000133.4(F9):c.521-17T>C	F9	Single nucleotide variant (intron variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2940033	NM_000133.4(F9):c.582T>C (p.Thr194=)	F9	Single nucleotide variant (synonymous variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2939953	NM_000133.4(F9):c.252+12C>T	F9	Single nucleotide variant (intron variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2939063	NM_000133.4(F9):c.252+18A>G	F9	Single nucleotide variant (intron variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2938492	NM_000133.4(F9):c.303A>G (p.Pro101=)	F9	Single nucleotide variant (synonymous variant +1 more)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2936976	NM_000133.4(F9):c.1206A>T (p.Gly402=)	F9	Single nucleotide variant (synonymous variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2936845	NM_000133.4(F9):c.521-12C>T	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)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2935855	NM_000133.4(F9):c.1257G>A (p.Val419=)	F9	Single nucleotide variant (synonymous variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2935408	NM_000133.4(F9):c.1128T>G (p.Leu376=)	F9	Single nucleotide variant (synonymous variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2935376	NM_000133.4(F9):c.252+16T>C	F9	Single nucleotide variant (intron variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2933831	NM_000133.4(F9):c.521-13T>C	F9	Single nucleotide variant (intron variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2933821	NM_000133.4(F9):c.723+11C>T	F9	Single nucleotide variant (intron variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2932713	NM_000133.4(F9):c.252+14C>T	F9	Single nucleotide variant (intron variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2932533	NM_000133.4(F9):c.555A>G (p.Gln185=)	F9	Single nucleotide variant (synonymous variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2931984	NM_000133.4(F9):c.579G>A (p.Glu193=)	F9	Single nucleotide variant (synonymous variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2931686	NM_000133.4(F9):c.1119A>G (p.Arg373=)	F9	Single nucleotide variant (synonymous variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2931231	NM_000133.4(F9):c.1094C>G (p.Ser365Ter)	F9 (S365* +1 more)	Single nucleotide variant (nonsense)	Hereditary factor IX deficiency disease +1 more	GPathogenic
Select item 2931105	NM_000133.4(F9):c.1230T>C (p.Asp410=)	F9	Single nucleotide variant (synonymous variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2930947	NM_000133.4(F9):c.277+19C>T	F9	Single nucleotide variant (intron variant)	Hereditary factor IX deficiency disease +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 2930749	NM_000133.4(F9):c.1242C>T (p.Pro414=)	F9	Single nucleotide variant (synonymous variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2930693	NM_000133.4(F9):c.1233T>C (p.Ser411=)	F9	Single nucleotide variant (synonymous variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2930535	NM_000133.4(F9):c.253-12T>C	F9	Single nucleotide variant (intron variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2930204	NM_000133.4(F9):c.324C>T (p.Cys108=)	F9	Single nucleotide variant (synonymous variant +1 more)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2930030	NM_000133.4(F9):c.1251T>C (p.Thr417=)	F9	Single nucleotide variant (synonymous variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2929955	NM_000133.4(F9):c.1185C>T (p.Phe395=)	F9	Single nucleotide variant (synonymous variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2929892	NM_000133.4(F9):c.838+18A>G	F9	Single nucleotide variant (intron variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2929888	NM_000133.4(F9):c.750A>T (p.Ala250=)	F9	Single nucleotide variant (synonymous variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign

<< First< Prev

Page of 8