ClinVar for MedGen (Select 945) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2954294	NM_000133.4(F9):c.1292G>T (p.Trp431Leu)	F9 (W393L +1 more)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease +1 more	GUncertain significance
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 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)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely benign
Select item 2949681	NM_000133.4(F9):c.1002T>A (p.Ile334=)	F9	Single nucleotide variant (synonymous variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely benign
Select item 2948905	NM_000133.4(F9):c.1296T>C (p.Gly432=)	F9	Single nucleotide variant (synonymous variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely benign
Select item 2946955	NM_000133.4(F9):c.253-8C>T	F9	Single nucleotide variant (intron variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely benign
Select item 2946811	NM_000133.4(F9):c.444T>C (p.Ser148=)	F9	Single nucleotide variant (synonymous variant)	Thrombophilia, X-linked, due to factor 9 defect +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)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GUncertain significance
Select item 2946567	NM_000133.4(F9):c.504G>A (p.Lys168=)	F9	Single nucleotide variant (synonymous variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely benign
Select item 2945637	NM_000133.4(F9):c.744T>A (p.Val248=)	F9	Single nucleotide variant (synonymous 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 2944252	NM_000133.4(F9):c.252+20A>G	F9	Single nucleotide variant (intron variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely benign
Select item 2943870	NM_000133.4(F9):c.521-17T>C	F9	Single nucleotide variant (intron variant)	Thrombophilia, X-linked, due to factor 9 defect +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)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely benign
Select item 2938492	NM_000133.4(F9):c.303A>G (p.Pro101=)	F9	Single nucleotide variant (synonymous variant +1 more)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely benign
Select item 2936976	NM_000133.4(F9):c.1206A>T (p.Gly402=)	F9	Single nucleotide variant (synonymous variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely benign
Select item 2936845	NM_000133.4(F9):c.521-12C>T	F9	Single nucleotide variant (intron variant)	Thrombophilia, X-linked, due to factor 9 defect +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 2935855	NM_000133.4(F9):c.1257G>A (p.Val419=)	F9	Single nucleotide variant (synonymous variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely benign
Select item 2935408	NM_000133.4(F9):c.1128T>G (p.Leu376=)	F9	Single nucleotide variant (synonymous variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely benign
Select item 2935376	NM_000133.4(F9):c.252+16T>C	F9	Single nucleotide variant (intron variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely benign
Select item 2933831	NM_000133.4(F9):c.521-13T>C	F9	Single nucleotide variant (intron variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely benign
Select item 2933821	NM_000133.4(F9):c.723+11C>T	F9	Single nucleotide variant (intron variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely benign
Select item 2932713	NM_000133.4(F9):c.252+14C>T	F9	Single nucleotide variant (intron variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely benign
Select item 2932533	NM_000133.4(F9):c.555A>G (p.Gln185=)	F9	Single nucleotide variant (synonymous variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely benign
Select item 2931984	NM_000133.4(F9):c.579G>A (p.Glu193=)	F9	Single nucleotide variant (synonymous variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely benign
Select item 2931686	NM_000133.4(F9):c.1119A>G (p.Arg373=)	F9	Single nucleotide variant (synonymous variant)	Thrombophilia, X-linked, due to factor 9 defect +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
Select item 2929351	NM_000133.4(F9):c.392-20_392-17del	F9	Deletion (intron variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely benign
Select item 2929218	NM_000133.4(F9):c.838+17A>C	F9	Single nucleotide variant (intron variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely benign
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 2928175	NM_000133.4(F9):c.252+15A>G	F9	Single nucleotide variant (intron variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely benign
Select item 2927946	NM_000133.4(F9):c.676C>A (p.Arg226=)	F9	Single nucleotide variant (synonymous variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely benign
Select item 2927807	NM_000133.4(F9):c.603T>C (p.Tyr201=)	F9	Single nucleotide variant (synonymous variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely benign
Select item 2927529	NM_000133.4(F9):c.839-16A>G	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 2927020	NM_000133.4(F9):c.277+14T>C	F9	Single nucleotide variant (intron variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely benign
Select item 2926916	NM_000133.4(F9):c.231T>G (p.Val77=)	F9	Single nucleotide variant (synonymous variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely benign
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 2926812	NM_000133.4(F9):c.723+15T>C	F9	Single nucleotide variant (intron variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely benign
Select item 2926659	NM_000133.4(F9):c.392-20G>A	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 2926528	NM_000133.4(F9):c.521-11T>C	F9	Single nucleotide variant (intron variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely benign
Select item 2925702	NM_000133.4(F9):c.1294G>A (p.Gly432Ser)	F9 (G432S +1 more)	Single nucleotide variant (missense variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GPathogenic
Select item 2925701	NM_000133.4(F9):c.1293G>T (p.Trp431Cys)	F9 (W393C +1 more)	Single nucleotide variant (missense variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GPathogenic
Select item 2925700	NM_000133.4(F9):c.1219T>A (p.Cys407Ser)	F9 (C407S +1 more)	Single nucleotide variant (missense variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely pathogenic
Select item 2925699	NM_000133.4(F9):c.1148T>A (p.Leu383His)	F9 (L345H +1 more)	Single nucleotide variant (missense variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GPathogenic
Select item 2925698	NM_000133.4(F9):c.1079T>C (p.Phe360Ser)	F9 (F360S +1 more)	Single nucleotide variant (missense variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely pathogenic
Select item 2925697	NM_000133.4(F9):c.984C>G (p.Asn328Lys)	F9 (N290K +1 more)	Single nucleotide variant (missense variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GUncertain significance
Select item 2925696	NM_000133.4(F9):c.949G>A (p.Ala317Thr)	F9 (A317T +1 more)	Single nucleotide variant (missense variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GUncertain significance
Select item 2925695	NM_000133.4(F9):c.944A>G (p.Asp315Gly)	F9 (D315G +1 more)	Single nucleotide variant (missense variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GPathogenic
Select item 2925694	NM_000133.4(F9):c.723G>A (p.Gln241=)	F9	Single nucleotide variant (synonymous variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GPathogenic
Select item 2925693	NM_000133.4(F9):c.659C>A (p.Ser220Ter)	F9 (S182* +1 more)	Single nucleotide variant (nonsense)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GPathogenic
Select item 2925692	NM_000133.4(F9):c.251C>T (p.Thr84Ile)	F9 (T84I)	Single nucleotide variant (missense variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely pathogenic
Select item 2925691	NM_000133.4(F9):c.236A>T (p.Glu79Val)	F9 (E79V)	Single nucleotide variant (missense variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	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 2924973	NM_000133.4(F9):c.723+14A>T	F9	Single nucleotide variant (intron variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2924480	NM_000133.4(F9):c.735T>C (p.Asn245=)	F9	Single nucleotide variant (synonymous variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2924451	NM_000133.4(F9):c.521-7T>C	F9	Single nucleotide variant (intron variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2923682	NM_000133.4(F9):c.558T>G (p.Thr186=)	F9	Single nucleotide variant (synonymous variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
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 2922182	NM_000133.4(F9):c.742del (p.Val248fs)	F9 (V248fs +1 more)	Deletion (frameshift variant)	Hereditary factor IX deficiency disease +1 more	GPathogenic
Select item 2922011	NM_000133.4(F9):c.894A>G (p.Arg298=)	F9	Single nucleotide variant (synonymous variant)	Hereditary factor IX deficiency disease +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 2775451	NM_000133.4(F9):c.1235G>A (p.Gly412Glu)	F9 (G412E +1 more)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GPathogenic FDA Recognized database
Select item 2691657	NM_000133.4(F9):c.1004G>T (p.Cys335Phe)	F9 (C297F +1 more)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GLikely pathogenic
Select item 2691579	NM_000133.4(F9):c.520+19T>C	F9	Single nucleotide variant (intron variant)	Hereditary factor IX deficiency disease +2 more	GLikely benign
Select item 2683975	NM_000133.4(F9):c.959A>G (p.Glu320Gly)	F9 (E282G +1 more)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GLikely pathogenic
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 2683967	NM_000133.4(F9):c.1084A>G (p.Lys362Glu)	F9 (K324E +1 more)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GLikely pathogenic
Select item 2581701	NM_000133.4(F9):c.1086del (p.Arg364fs)	F9 (R326fs +1 more)	Deletion (frameshift variant)	Hereditary factor IX deficiency disease	GPathogenic
Select item 2577226	NM_000133.4(F9):c.1175ACA[1] (p.Asn393del)	F9 (N355del +1 more)	Microsatellite (inframe_deletion +1 more)	Hereditary factor IX deficiency disease	GLikely pathogenic
Select item 2444307	NM_000133.4(F9):c.1193G>T (p.Gly398Val)	F9 (G360V +1 more)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GLikely pathogenic
Select item 2444124	NM_000133.4(F9):c.1004G>A (p.Cys335Tyr)	F9 (C297Y +1 more)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GLikely pathogenic
Select item 2422400	NC_000023.10:g.(?_138612860)_(138914348_?)dup	ATP11C, MCF2 +1 more	Duplication	Hereditary factor IX deficiency disease +1 more	GUncertain significance
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 2193219	NM_000133.4(F9):c.780A>G (p.Lys260=)	F9	Single nucleotide variant (synonymous variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
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

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