C0272375[trait identifier] AND "Labcorp Genetics (formerly Invitae), L - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 417521	NC_000001.11:g.(?_173903804)_(173917378_?)del	SERPINC1	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 2073944	NM_000488.4(SERPINC1):c.1395A>C (p.Ter465Tyr)	SERPINC1	Single nucleotide variant (stop lost)	Hereditary antithrombin deficiency	GUncertain significance
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 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 2415371	NM_000488.4(SERPINC1):c.1350C>T (p.Asn450=)	SERPINC1	Single nucleotide variant (synonymous variant)	Hereditary antithrombin deficiency	GLikely benignFDA Recognized database
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 1460607	NM_000488.4(SERPINC1):c.1331T>A (p.Ile444Lys)	SERPINC1 (I372K +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GUncertain significance
Select item 958071	NM_000488.4(SERPINC1):c.1315C>G (p.Pro439Ala)	SERPINC1 (P391A +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GPathogenic/Likely pathogenic
Select item 627228	NM_000488.4(SERPINC1):c.1315C>A (p.Pro439Thr)	SERPINC1 (P439T +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GPathogenicFDA Recognized database
Select item 529741	NM_000488.4(SERPINC1):c.1315C>T (p.Pro439Ser)	SERPINC1 (P439S +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GUncertain significanceFDA Recognized database
Select item 2734037	NM_000488.4(SERPINC1):c.1311C>G (p.Asn437Lys)	SERPINC1 (N418K +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GPathogenicFDA Recognized database
Select item 18003	NM_000488.4(SERPINC1):c.1306G>A (p.Ala436Thr)	SERPINC1 (A436T +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GLikely pathogenicFDA Recognized database
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 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 2906231	NM_000488.4(SERPINC1):c.1284C>T (p.Asn428=)	SERPINC1	Single nucleotide variant (synonymous variant)	Hereditary antithrombin deficiency	GLikely benign
Select item 1576061	NM_000488.4(SERPINC1):c.1278G>A (p.Ser426=)	SERPINC1	Single nucleotide variant (synonymous variant)	Hereditary antithrombin deficiency	GUncertain significanceFDA Recognized database
Select item 1403128	NM_000488.4(SERPINC1):c.1277C>G (p.Ser426Trp)	SERPINC1 (S378W +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GUncertain significance
Select item 18010	NM_000488.4(SERPINC1):c.1277C>T (p.Ser426Leu)	SERPINC1 (S426L +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GPathogenicFDA Recognized database
Select item 1610571	NM_000488.4(SERPINC1):c.1275T>C (p.Arg425=)	SERPINC1	Single nucleotide variant (synonymous variant)	Hereditary antithrombin deficiency	GUncertain significanceFDA Recognized database
Select item 18019	NM_000488.4(SERPINC1):c.1274G>A (p.Arg425His)	SERPINC1 (R425H +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GPathogenicFDA Recognized database
Select item 18016	NM_000488.4(SERPINC1):c.1273C>T (p.Arg425Cys)	SERPINC1 (R425C +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GPathogenicFDA Recognized database
Select item 1382422	NM_000488.4(SERPINC1):c.1267G>A (p.Ala423Thr)	SERPINC1 (A351T +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GUncertain significance
Select item 968665	NM_000488.4(SERPINC1):c.1265T>C (p.Ile422Thr)	SERPINC1 (I374T +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GUncertain significance
Select item 1144693	NM_000488.4(SERPINC1):c.1254C>T (p.Thr418=)	SERPINC1	Single nucleotide variant (synonymous variant)	Hereditary antithrombin deficiency	GLikely benignFDA Recognized database
Select item 18023	NM_000488.4(SERPINC1):c.1246G>T (p.Ala416Ser)	SERPINC1 (A416S +6 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 18007	NM_000488.4(SERPINC1):c.1246G>C (p.Ala416Pro)	SERPINC1 (A416P +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GPathogenicFDA Recognized database
Select item 18020	NM_000488.4(SERPINC1):c.1240G>A (p.Ala414Thr)	SERPINC1 (A414T +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GLikely pathogenicFDA Recognized database
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 1954374	NM_000488.4(SERPINC1):c.1219-8A>G	SERPINC1	Single nucleotide variant (intron variant)	Hereditary antithrombin deficiency	GUncertain significanceFDA Recognized database
Select item 3020297	NM_000488.4(SERPINC1):c.1219-16C>T	SERPINC1	Single nucleotide variant (intron variant)	Hereditary antithrombin deficiency	GLikely benign
Select item 2860534	NM_000488.4(SERPINC1):c.1218+11C>T	SERPINC1	Single nucleotide variant (intron variant)	Hereditary antithrombin deficiency	GLikely benign
Select item 1116442	NM_000488.4(SERPINC1):c.1218+7A>G	SERPINC1	Single nucleotide variant (intron variant)	Hereditary antithrombin deficiency	GLikely benignFDA Recognized database
Select item 2861330	NM_000488.4(SERPINC1):c.1207del (p.Ala403fs)	SERPINC1 (A384fs +6 more)	Deletion (frameshift variant)	Hereditary antithrombin deficiency	GPathogenic
Select item 2138163	NM_000488.4(SERPINC1):c.1207G>T (p.Ala403Ser)	SERPINC1 (A396S +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GUncertain significance
Select item 971901	NM_000488.4(SERPINC1):c.1206G>C (p.Lys402Asn)	SERPINC1 (K354N +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GUncertain significance
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 1068471	NM_000488.4(SERPINC1):c.1190C>G (p.Ser397Ter)	SERPINC1 (S325* +6 more)	Single nucleotide variant (nonsense)	Hereditary antithrombin deficiency	GPathogenic
Select item 2734038	NM_000488.4(SERPINC1):c.1171C>T (p.Arg391Ter)	SERPINC1 (R384* +6 more)	Single nucleotide variant (nonsense)	Hereditary antithrombin deficiency	GPathogenicFDA Recognized database
Select item 863657	NM_000488.4(SERPINC1):c.1157T>C (p.Ile386Thr)	SERPINC1 (I338T +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GPathogenicFDA Recognized database
Select item 237848	NM_000488.4(SERPINC1):c.1154G>A (p.Gly385Asp)	SERPINC1 (G385D +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GUncertain significance
Select item 215473	NM_000488.4(SERPINC1):c.1154-5T>C	SERPINC1	Single nucleotide variant (intron variant)	Hereditary antithrombin deficiency	GLikely benignFDA 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 410384	NM_000488.4(SERPINC1):c.1154-14G>A	SERPINC1	Single nucleotide variant (intron variant)	Hereditary antithrombin deficiency	GPathogenicFDA Recognized database
Select item 2716481	NM_000488.4(SERPINC1):c.1154-15C>T	SERPINC1	Single nucleotide variant (intron 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 645384	NM_000488.4(SERPINC1):c.1153+5G>T	SERPINC1	Single nucleotide variant (intron variant)	Hereditary antithrombin deficiency	GLikely pathogenic
Select item 18032	NM_000488.4(SERPINC1):c.1141T>C (p.Ser381Pro)	SERPINC1 (S381P +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GUncertain significanceFDA Recognized database
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 1080285	NM_000488.4(SERPINC1):c.1119C>T (p.Val373=)	SERPINC1	Single nucleotide variant (synonymous variant)	Hereditary antithrombin deficiency	GLikely benign
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 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 850710	NM_000488.4(SERPINC1):c.1099C>G (p.Leu367Val)	SERPINC1 (L367V +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 571883	NM_000488.4(SERPINC1):c.1060C>T (p.Arg354Cys)	SERPINC1 (R354C +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GUncertain significance
Select item 216071	NM_000488.4(SERPINC1):c.1060del (p.Arg354fs)	SERPINC1 (R354fs +6 more)	Deletion (frameshift variant)	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 1066706	NM_000488.4(SERPINC1):c.1057C>T (p.Pro353Ser)	SERPINC1 (P281S +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GLikely pathogenic
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 100923	NM_000488.4(SERPINC1):c.1016G>A (p.Trp339Ter)	SERPINC1 (W339* +6 more)	Single nucleotide variant (nonsense)	Hereditary antithrombin deficiency	GPathogenic
Select item 256247	NM_000488.4(SERPINC1):c.1011A>G (p.Gln337=)	SERPINC1	Single nucleotide variant (synonymous variant)	Hereditary antithrombin deficiency	GBenignFDA Recognized database
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 2897810	NM_000488.4(SERPINC1):c.1008G>C (p.Leu336=)	SERPINC1	Single nucleotide variant (synonymous 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 293838	NM_000488.4(SERPINC1):c.1005G>A (p.Val335=)	SERPINC1	Single nucleotide variant (synonymous variant)	Hereditary antithrombin deficiency	GBenign/Likely benign
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 220768	NM_000488.4(SERPINC1):c.995C>T (p.Thr332Ile)	SERPINC1 (T332I +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GUncertain significance
Select item 256248	NM_000488.4(SERPINC1):c.981A>G (p.Val327=)	SERPINC1	Single nucleotide variant (synonymous variant)	Hereditary antithrombin deficiency	GBenignFDA Recognized database
Select item 840053	NM_000488.4(SERPINC1):c.946A>T (p.Ile316Phe)	SERPINC1 (I316F +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 597303	NM_000488.4(SERPINC1):c.914C>A (p.Pro305His)	SERPINC1 (P305H +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GBenignFDA Recognized database
Select item 1114396	NM_000488.4(SERPINC1):c.910T>C (p.Leu304=)	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 161390	NM_000488.4(SERPINC1):c.886G>C (p.Ala296Pro)	SERPINC1 (A296P +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GUncertain significance
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 2157486	NM_000488.4(SERPINC1):c.882C>T (p.Arg294=)	SERPINC1	Single nucleotide variant (synonymous variant)	Hereditary antithrombin deficiency	GLikely benign
Select item 1458936	NM_000488.4(SERPINC1):c.882C>G (p.Arg294=)	SERPINC1	Single nucleotide variant (synonymous variant)	Hereditary antithrombin deficiency	GLikely benign
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 2024092	NM_000488.4(SERPINC1):c.876T>C (p.Tyr292=)	SERPINC1	Single nucleotide variant (synonymous variant)	Hereditary antithrombin deficiency	GLikely benign
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 2722100	NM_000488.4(SERPINC1):c.873T>C (p.Arg291=)	SERPINC1	Single nucleotide variant (synonymous variant)	Hereditary antithrombin deficiency	GBenign
Select item 1399490	NM_000488.4(SERPINC1):c.872G>A (p.Arg291His)	SERPINC1 (R243H +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GUncertain significance
Select item 1020274	NM_000488.4(SERPINC1):c.871C>T (p.Arg291Cys)	SERPINC1 (R243C +1 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GUncertain significance
Select item 293839	NM_000488.4(SERPINC1):c.870C>T (p.Phe290=)	SERPINC1	Single nucleotide variant (synonymous variant)	Hereditary antithrombin deficiency	GLikely benignFDA Recognized database
Select item 937670	NM_000488.4(SERPINC1):c.860A>T (p.Glu287Val)	SERPINC1 (E287V +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GUncertain significance
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 2176539	NM_000488.4(SERPINC1):c.834G>A (p.Ser278=)	SERPINC1	Single nucleotide variant (synonymous variant)	Hereditary antithrombin deficiency	GLikely benign
Select item 961679	NM_000488.4(SERPINC1):c.830_831del (p.Glu277fs)	SERPINC1 (E277fs +6 more)	Microsatellite (frameshift variant)	Hereditary antithrombin deficiency	GPathogenicFDA Recognized database
Select item 1641867	NM_000488.4(SERPINC1):c.808C>T (p.Leu270=)	SERPINC1	Single nucleotide variant (synonymous variant +1 more)	Hereditary antithrombin deficiency	GLikely benign
Select item 410383	NM_000488.4(SERPINC1):c.805G>A (p.Glu269Lys)	SERPINC1 (E269K +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary antithrombin deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1106721	NM_000488.4(SERPINC1):c.777A>C (p.Ser259=)	SERPINC1	Single nucleotide variant (synonymous variant +1 more)	Hereditary antithrombin deficiency	GLikely benign
Select item 645305	NM_000488.4(SERPINC1):c.766del (p.Leu256fs)	SERPINC1 (L256fs +5 more)	Deletion (frameshift variant +1 more)	Hereditary antithrombin deficiency	GPathogenic
Select item 1606352	NM_000488.4(SERPINC1):c.763-16T>C	SERPINC1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 1643081	NM_000488.4(SERPINC1):c.762+7A>G	SERPINC1 (R257G)	Single nucleotide variant (missense variant +1 more)	Hereditary antithrombin deficiency	GLikely benign
Select item 1146549	NM_000488.4(SERPINC1):c.756C>T (p.Tyr252=)	SERPINC1	Single nucleotide variant (synonymous variant +1 more)	Hereditary antithrombin deficiency	GLikely benign
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 1617762	NM_000488.4(SERPINC1):c.750C>A (p.Thr250=)	SERPINC1	Single nucleotide variant (synonymous variant +1 more)	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 1094336	NM_000488.4(SERPINC1):c.719A>G (p.Asn240Ser)	SERPINC1 (N168S +3 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GLikely benignFDA Recognized database
Select item 237851	NM_000488.4(SERPINC1):c.716T>C (p.Ile239Thr)	SERPINC1 (I239T +3 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GUncertain significance

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