ClinVar for MedGen (Select 75781) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247686	NC_000001.10:g.(?_173876568)_(173879100_?)dup	SERPINC1	Duplication	Hereditary antithrombin deficiency	GUncertain significance
Select item 3247685	NC_000001.10:g.(?_173876568)_(173886568_?)dup	SERPINC1	Duplication	Hereditary antithrombin deficiency	GUncertain significance
Select item 3247684	NC_000001.10:g.(?_173880917)_(173886568_?)del	SERPINC1	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 3247683	NC_000001.10:g.(?_173883671)_(173886568_?)del	SERPINC1	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 3247682	NC_000001.10:g.(?_173873027)_(173962123_?)del	RC3H1, SERPINC1	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 3242378	NM_000488.4(SERPINC1):c.1152A>G (p.Pro384=)	SERPINC1	Single nucleotide variant (synonymous variant)	Hereditary antithrombin deficiency	GUncertain significance FDA Recognized database
Select item 3242377	NM_000488.4(SERPINC1):c.265_266delinsGC (p.Arg89Ala)	SERPINC1 (R116A +2 more)	Indel (missense variant)	Hereditary antithrombin deficiency	GUncertain significance FDA Recognized database
Select item 3242376	NM_000488.4(SERPINC1):c.858G>C (p.Gln286His)	SERPINC1 (Q214H +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GUncertain significance FDA Recognized database
Select item 3242375	NM_000488.4(SERPINC1):c.857A>C (p.Gln286Pro)	SERPINC1 (Q214P +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GPathogenic FDA Recognized database
Select item 3242374	NM_000488.4(SERPINC1):c.391C>G (p.Leu131Val)	SERPINC1 (L131V +2 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GUncertain significance FDA Recognized database
Select item 3242373	NM_000488.4(SERPINC1):c.1312A>G (p.Arg438Gly)	SERPINC1 (R366G +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GUncertain significance FDA Recognized database
Select item 3242372	NM_000488.4(SERPINC1):c.1313G>T (p.Arg438Met)	SERPINC1 (R366M +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GUncertain significance FDA Recognized database
Select item 3023115	NM_000488.4(SERPINC1):c.1154-14G>C	SERPINC1	Single nucleotide variant (intron variant)	Hereditary antithrombin deficiency	GLikely benign
Select item 3021089	NM_000488.4(SERPINC1):c.851T>C (p.Met284Thr)	SERPINC1 (M277T +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GLikely pathogenic
Select item 3020297	NM_000488.4(SERPINC1):c.1219-16C>T	SERPINC1	Single nucleotide variant (intron variant)	Hereditary antithrombin deficiency	GLikely benign
Select item 3019168	NM_000488.4(SERPINC1):c.42-15T>C	SERPINC1	Single nucleotide variant (intron variant)	Hereditary antithrombin deficiency	GLikely benign
Select item 3018042	NM_000488.4(SERPINC1):c.1204A>G (p.Lys402Glu)	SERPINC1 (K330E +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GUncertain significance
Select item 3017763	NM_000488.4(SERPINC1):c.342T>C (p.Ser114=)	SERPINC1	Single nucleotide variant (synonymous variant)	Hereditary antithrombin deficiency	GLikely benign
Select item 3016300	NM_000488.4(SERPINC1):c.749C>T (p.Thr250Ile)	SERPINC1 (T178I +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary antithrombin deficiency	GLikely pathogenic
Select item 3015577	NM_000488.4(SERPINC1):c.1106A>G (p.Asp369Gly)	SERPINC1 (D350G +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GUncertain significance
Select item 3012606	NM_000488.4(SERPINC1):c.679G>A (p.Glu227Lys)	SERPINC1 (E179K +3 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GLikely pathogenic
Select item 3012062	NM_000488.4(SERPINC1):c.669C>A (p.Ser223=)	SERPINC1	Single nucleotide variant (synonymous variant)	Hereditary antithrombin deficiency	GLikely benign
Select item 2978886	NM_000488.4(SERPINC1):c.1153+7C>T	SERPINC1	Single nucleotide variant (intron variant)	Hereditary antithrombin deficiency	GLikely benign
Select item 2961882	NM_000488.4(SERPINC1):c.1007T>C (p.Leu336Pro)	SERPINC1 (L264P +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GUncertain significance
Select item 2957430	NM_000488.4(SERPINC1):c.88G>A (p.Val30Met)	SERPINC1 (V57M +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary antithrombin deficiency	GUncertain significance
Select item 2917821	NM_000488.4(SERPINC1):c.693C>A (p.Thr231=)	SERPINC1	Single nucleotide variant (synonymous variant)	Hereditary antithrombin deficiency	GLikely benign
Select item 2914566	NM_000488.4(SERPINC1):c.1284C>G (p.Asn428Lys)	SERPINC1 (N380K +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GUncertain significance
Select item 2911303	NM_000488.4(SERPINC1):c.925G>A (p.Asp309Asn)	SERPINC1 (D237N +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GUncertain significance
Select item 2907297	NM_000488.4(SERPINC1):c.374G>A (p.Gly125Asp)	SERPINC1 (G152D +2 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GPathogenic
Select item 2907090	NM_000488.4(SERPINC1):c.1000G>A (p.Glu334Lys)	SERPINC1 (E262K +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GUncertain significance
Select item 2906231	NM_000488.4(SERPINC1):c.1284C>T (p.Asn428=)	SERPINC1	Single nucleotide variant (synonymous variant)	Hereditary antithrombin deficiency	GLikely benign
Select item 2900149	NM_000488.4(SERPINC1):c.894C>T (p.Gly298=)	SERPINC1	Single nucleotide variant (synonymous variant)	Hereditary antithrombin deficiency	GLikely benign
Select item 2897810	NM_000488.4(SERPINC1):c.1008G>C (p.Leu336=)	SERPINC1	Single nucleotide variant (synonymous variant)	Hereditary antithrombin deficiency	GLikely benign
Select item 2895523	NM_000488.4(SERPINC1):c.885G>T (p.Val295=)	SERPINC1	Single nucleotide variant (synonymous variant)	Hereditary antithrombin deficiency	GLikely benign
Select item 2892122	NM_000488.4(SERPINC1):c.1123C>A (p.Leu375Met)	SERPINC1 (L303M +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GUncertain significance
Select item 2886088	NM_000488.4(SERPINC1):c.878G>A (p.Arg293Gln)	SERPINC1 (R274Q +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GLikely benign
Select item 2882357	NM_000488.4(SERPINC1):c.41+12G>A	SERPINC1	Single nucleotide variant (intron variant)	Hereditary antithrombin deficiency	GLikely benign
Select item 2866194	NM_000488.4(SERPINC1):c.624+18C>T	SERPINC1	Single nucleotide variant (intron variant)	Hereditary antithrombin deficiency	GLikely benign
Select item 2861330	NM_000488.4(SERPINC1):c.1207del (p.Ala403fs)	SERPINC1 (A384fs +6 more)	Deletion (frameshift variant)	Hereditary antithrombin deficiency	GPathogenic
Select item 2860534	NM_000488.4(SERPINC1):c.1218+11C>T	SERPINC1	Single nucleotide variant (intron variant)	Hereditary antithrombin deficiency	GLikely benign
Select item 2848842	NM_000488.4(SERPINC1):c.1338A>G (p.Glu446=)	SERPINC1	Single nucleotide variant (synonymous variant)	Hereditary antithrombin deficiency	GLikely benign
Select item 2815652	NM_000488.4(SERPINC1):c.171C>T (p.Ser57=)	SERPINC1	Single nucleotide variant (synonymous variant)	Hereditary antithrombin deficiency	GLikely benign
Select item 2798086	NM_000488.4(SERPINC1):c.205G>T (p.Glu69Ter)	SERPINC1 (E21* +2 more)	Single nucleotide variant (nonsense)	Hereditary antithrombin deficiency	GPathogenic
Select item 2777316	NM_000488.4(SERPINC1):c.1110G>A (p.Met370Ile)	SERPINC1 (M370I +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GUncertain significance
Select item 2777095	NM_000488.4(SERPINC1):c.98dup (p.His33fs)	SERPINC1 (H33fs +1 more)	Duplication (frameshift variant +1 more)	Hereditary antithrombin deficiency	GPathogenic
Select item 2760178	NM_000488.4(SERPINC1):c.762+19G>C	SERPINC1 (E261Q)	Single nucleotide variant (missense variant +1 more)	Hereditary antithrombin deficiency	GLikely benign
Select item 2757296	NM_000488.4(SERPINC1):c.50_52dup (p.Tyr17_Leu18insHis)	SERPINC1	Duplication (inframe_insertion +1 more)	Hereditary antithrombin deficiency	GUncertain significance
Select item 2755792	NM_000488.4(SERPINC1):c.551T>C (p.Leu184Pro)	SERPINC1 (L136P +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary antithrombin deficiency	GUncertain significance
Select item 2740961	NM_000488.4(SERPINC1):c.15G>T (p.Val5=)	SERPINC1	Single nucleotide variant (synonymous variant +1 more)	Hereditary antithrombin deficiency	GLikely benign
Select item 2734047	NC_000001.11:g.173917430G>C	SERPINC1	Single nucleotide variant	Hereditary antithrombin deficiency	GLikely pathogenic
Select item 2734046	NM_000488.4(SERPINC1):c.41+5G>A	SERPINC1	Single nucleotide variant (intron variant)	Hereditary antithrombin deficiency	GLikely pathogenic
Select item 2734045	NM_000488.4(SERPINC1):c.409-1G>C	SERPINC1	Single nucleotide variant (splice acceptor variant +1 more)	Hereditary antithrombin deficiency	GPathogenic
Select item 2734044	NM_000488.4(SERPINC1):c.409-1G>T	SERPINC1	Single nucleotide variant (splice acceptor variant +1 more)	Hereditary antithrombin deficiency	GPathogenic
Select item 2734043	NM_000488.4(SERPINC1):c.452T>A (p.Ile151Asn)	SERPINC1 (I178N +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary antithrombin deficiency	GLikely pathogenic
Select item 2734042	NM_000488.4(SERPINC1):c.580A>C (p.Ser194Arg)	SERPINC1 (S194R +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary antithrombin deficiency	GLikely pathogenic
Select item 2734041	NM_000488.4(SERPINC1):c.752T>C (p.Ile251Thr)	SERPINC1 (I179T +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary antithrombin deficiency	GUncertain significance
Select item 2734040	NM_000488.4(SERPINC1):c.1009C>T (p.Gln337Ter)	SERPINC1 (Q289* +6 more)	Single nucleotide variant (nonsense)	Hereditary antithrombin deficiency	GPathogenic
Select item 2734039	NM_000488.4(SERPINC1):c.1058C>T (p.Pro353Leu)	SERPINC1 (P334L +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GLikely pathogenic
Select item 2734038	NM_000488.4(SERPINC1):c.1171C>T (p.Arg391Ter)	SERPINC1 (R384* +6 more)	Single nucleotide variant (nonsense)	Hereditary antithrombin deficiency	GPathogenic
Select item 2734037	NM_000488.4(SERPINC1):c.1311C>G (p.Asn437Lys)	SERPINC1 (N418K +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GPathogenic FDA Recognized database
Select item 2733987	NM_000488.4(SERPINC1):c.409-11G>T	SERPINC1	Single nucleotide variant (intron variant)	Hereditary antithrombin deficiency	GLikely benign
Select item 2731929	NM_000488.4(SERPINC1):c.591A>G (p.Val197=)	SERPINC1	Single nucleotide variant (synonymous variant +1 more)	Hereditary antithrombin deficiency	GLikely benign
Select item 2727335	NM_000488.4(SERPINC1):c.272C>T (p.Ala91Val)	SERPINC1 (A43V +2 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GLikely pathogenic
Select item 2722100	NM_000488.4(SERPINC1):c.873T>C (p.Arg291=)	SERPINC1	Single nucleotide variant (synonymous variant)	Hereditary antithrombin deficiency	GBenign
Select item 2716481	NM_000488.4(SERPINC1):c.1154-15C>T	SERPINC1	Single nucleotide variant (intron variant)	Hereditary antithrombin deficiency	GLikely benign
Select item 2710509	NM_000488.4(SERPINC1):c.657C>G (p.Asn219Lys)	SERPINC1 (N147K +3 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GUncertain significance
Select item 2709550	NM_000488.4(SERPINC1):c.105C>T (p.Ser35=)	SERPINC1	Single nucleotide variant (synonymous variant +1 more)	Hereditary antithrombin deficiency	GLikely benign
Select item 2693760	NM_000488.4(SERPINC1):c.568T>C (p.Tyr190His)	SERPINC1 (Y142H +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary antithrombin deficiency	GUncertain significance
Select item 2683977	NM_000488.4(SERPINC1):c.1358T>C (p.Ile453Thr)	SERPINC1 (I381T +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GPathogenic
Select item 2683973	NM_000488.4(SERPINC1):c.1219-1G>A	SERPINC1	Single nucleotide variant (splice acceptor variant)	Hereditary antithrombin deficiency	GLikely pathogenic
Select item 2683962	NM_000488.4(SERPINC1):c.614T>C (p.Leu205Pro)	SERPINC1 (L157P +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary antithrombin deficiency	GLikely pathogenic
Select item 2664826	NM_000488.4(SERPINC1):c.1169dup (p.Arg391fs)	SERPINC1 (R319fs +6 more)	Duplication (frameshift variant)	Hereditary antithrombin deficiency	GPathogenic
Select item 2664824	NM_000488.4(SERPINC1):c.1003del (p.Val335fs)	SERPINC1 (V263fs +6 more)	Deletion (frameshift variant)	Hereditary antithrombin deficiency	GLikely pathogenic
Select item 2664808	NM_000488.4(SERPINC1):c.1121A>G (p.Asp374Gly)	SERPINC1 (D302G +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GUncertain significance
Select item 2627770	NM_000488.4(SERPINC1):c.74G>A (p.Gly25Asp)	SERPINC1 (G25D +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary antithrombin deficiency	GUncertain significance
Select item 2627769	NM_000488.4(SERPINC1):c.266_318del (p.Arg89fs)	SERPINC1 (R116fs +2 more)	Deletion (frameshift variant)	Hereditary antithrombin deficiency	GPathogenic
Select item 2627762	NM_000488.4(SERPINC1):c.1063T>G (p.Phe355Val)	SERPINC1 (F283V +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GUncertain significance
Select item 2627062	NM_000488.4(SERPINC1):c.-175_-174delTA	SERPINC1	Deletion	Hereditary antithrombin deficiency	GUncertain significance
Select item 2582751	NM_000488.4(SERPINC1):c.79T>C (p.Trp27Arg)	SERPINC1 (W27R +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary antithrombin deficiency	GUncertain significance
Select item 2581081	NM_000488.4(SERPINC1):c.778A>T (p.Lys260Ter)	SERPINC1 (K188* +5 more)	Single nucleotide variant (nonsense +1 more)	Hereditary antithrombin deficiency	GPathogenic FDA Recognized database
Select item 2581080	NM_000488.4(SERPINC1):c.280_283del (p.Phe94fs)	SERPINC1 (F121fs +2 more)	Deletion (frameshift variant)	Hereditary antithrombin deficiency	GPathogenic FDA Recognized database
Select item 2572120	NM_000488.4(SERPINC1):c.1165G>A (p.Glu389Lys)	SERPINC1 (E317K +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GUncertain significance
Select item 2572115	NM_000488.4(SERPINC1):c.790G>C (p.Glu264Gln)	SERPINC1 (E192Q +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary antithrombin deficiency	GUncertain significance
Select item 2429353	NM_000488.4(SERPINC1):c.490C>T (p.Arg164Ter)	SERPINC1 (R116* +2 more)	Single nucleotide variant (nonsense +1 more)	Hereditary antithrombin deficiency	GPathogenic/Likely pathogenic
Select item 2418854	NM_000488.4(SERPINC1):c.269T>G (p.Phe90Cys)	SERPINC1 (F117C +2 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GUncertain significance
Select item 2417121	NM_000488.4(SERPINC1):c.875A>T (p.Tyr292Phe)	SERPINC1 (Y220F +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GUncertain significance
Select item 2415371	NM_000488.4(SERPINC1):c.1350C>T (p.Asn450=)	SERPINC1	Single nucleotide variant (synonymous variant)	Hereditary antithrombin deficiency	GLikely benign FDA Recognized database
Select item 2267274	NM_000488.4(SERPINC1):c.223G>A (p.Ala75Thr)	SERPINC1 (A102T +2 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GUncertain significance FDA Recognized database
Select item 2202886	NM_000488.4(SERPINC1):c.28dup (p.Thr10fs)	SERPINC1 (T10fs)	Duplication (frameshift variant +2 more)	Hereditary antithrombin deficiency	GPathogenic
Select item 2202884	NM_000488.4(SERPINC1):c.1302C>A (p.Phe434Leu)	SERPINC1 (F461L +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GLikely pathogenic
Select item 2202883	NM_000488.4(SERPINC1):c.1366G>C (p.Gly456Arg)	SERPINC1 (G456R +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GPathogenic
Select item 2191318	NM_000488.4(SERPINC1):c.132G>A (p.Pro44=)	SERPINC1	Single nucleotide variant (synonymous variant +1 more)	Hereditary antithrombin deficiency	GLikely benign
Select item 2179573	NM_000488.4(SERPINC1):c.42-10C>A	SERPINC1	Single nucleotide variant (intron variant)	Hereditary antithrombin deficiency	GLikely benign
Select item 2178499	NM_000488.4(SERPINC1):c.1051C>T (p.His351Tyr)	SERPINC1 (H351Y +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2176539	NM_000488.4(SERPINC1):c.834G>A (p.Ser278=)	SERPINC1	Single nucleotide variant (synonymous variant)	Hereditary antithrombin deficiency	GLikely benign
Select item 2173708	NM_000488.4(SERPINC1):c.1235G>A (p.Ser412Asn)	SERPINC1 (S340N +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GUncertain significance
Select item 2160213	NM_000488.4(SERPINC1):c.1078G>A (p.Gly360Ser)	SERPINC1 (G387S +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GUncertain significance
Select item 2157486	NM_000488.4(SERPINC1):c.882C>T (p.Arg294=)	SERPINC1	Single nucleotide variant (synonymous variant)	Hereditary antithrombin deficiency	GLikely benign
Select item 2155880	NM_000488.4(SERPINC1):c.1355T>C (p.Ile452Thr)	SERPINC1 (I380T +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GUncertain significance
Select item 2145512	NM_000488.4(SERPINC1):c.370C>T (p.Leu124=)	SERPINC1	Single nucleotide variant (synonymous variant)	Hereditary antithrombin deficiency	GLikely benign

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