F12[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 907757	NM_000505.4(F12):c.*86C>T	F12	Single nucleotide variant (3 prime UTR variant)	Hereditary angioedema type 3 +1 more	GUncertain significance
Select item 904429	NM_000505.4(F12):c.*9G>A	F12	Single nucleotide variant (3 prime UTR variant)	Hereditary angioedema type 3 +1 more	GUncertain significance
Select item 2472273	NM_000505.4(F12):c.1813T>C (p.Tyr605His)	F12 (Y605H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2899826	NM_000505.4(F12):c.1812C>T (p.Tyr604=)	F12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2729848	NM_000505.4(F12):c.1791C>A (p.Gly597=)	F12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2814001	NM_000505.4(F12):c.1779C>T (p.Arg593=)	F12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3027326	NM_000505.4(F12):c.1774G>A (p.Asp592Asn)	F12 (D592N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 983441	NM_000505.4(F12):c.1768T>G (p.Cys590Gly)	F12 (C590G)	Single nucleotide variant (missense variant)	Hereditary angioedema type 3	GUncertain significance
Select item 2735342	NM_000505.4(F12):c.1736C>T (p.Thr579Ile)	F12 (T579I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 904430	NM_000505.4(F12):c.1704G>A (p.Val568=)	F12	Single nucleotide variant (synonymous variant)	Hereditary angioedema type 3 +1 more	GConflicting classifications of pathogenicity
Select item 2691308	NM_000505.4(F12):c.1697del (p.Pro566fs)	F12 (P566fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 1166	NM_000505.4(F12):c.1681-1G>A	F12	Single nucleotide variant (splice acceptor variant)	F12-Related Disorders +2 more	GConflicting classifications of pathogenicity
Select item 2053250	NM_000505.4(F12):c.1681-7G>A	F12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2335220	NM_000505.4(F12):c.1634G>A (p.Gly545Asp)	F12 (G545D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2656115	NM_000505.4(F12):c.1621T>G (p.Ser541Ala)	F12 (S541A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 983443	NM_000505.4(F12):c.1599A>G (p.Ser533=)	F12	Single nucleotide variant (synonymous variant)	Hereditary angioedema type 3	GUncertain significance
Select item 3091402	NM_000505.4(F12):c.1574C>G (p.Pro525Arg)	F12 (P525R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3066136	NM_000505.4(F12):c.1570del (p.Val524fs)	F12 (V524fs)	Deletion (frameshift variant)	Factor XII deficiency disease	GPathogenic
Select item 2656116	NM_000505.4(F12):c.1569G>A (p.Gln523=)	F12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656117	NM_000505.4(F12):c.1560G>A (p.Gln520=)	F12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3091401	NM_000505.4(F12):c.1553T>C (p.Phe518Ser)	F12 (F518S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2904874	NM_000505.4(F12):c.1532-4G>T	F12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2743748	NM_000505.4(F12):c.1531+12T>C	F12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 983440	NM_000505.4(F12):c.1530G>C (p.Glu510Asp)	F12 (E510D)	Single nucleotide variant (missense variant)	Hereditary angioedema type 3	GUncertain significance
Select item 1906097	NM_000505.4(F12):c.1518C>A (p.Gly506=)	F12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2572132	NM_000505.4(F12):c.1517del (p.Gly506fs)	F12 (G506fs)	Deletion (frameshift variant)	Factor XII deficiency disease	GLikely pathogenic
Select item 2656118	NM_000505.4(F12):c.1492A>G (p.Thr498Ala)	F12 (T498A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025588	NM_000505.4(F12):c.1485C>G (p.Ser495=)	F12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2276981	NM_000505.4(F12):c.1474G>A (p.Ala492Thr)	F12 (A492T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065581	NM_000505.4(F12):c.1462C>T (p.Pro488Ser)	F12 (P488S)	Single nucleotide variant (missense variant)	Factor XII deficiency disease	GUncertain significance
Select item 2491934	NM_000505.4(F12):c.1460T>C (p.Leu487Pro)	F12 (L487P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2414519	NM_000505.4(F12):c.1437G>T (p.Ser479=)	F12	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2656119	NM_000505.4(F12):c.1428G>A (p.Ala476=)	F12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2263195	NM_000505.4(F12):c.1418G>A (p.Gly473Asp)	F12 (G473D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1252406	NM_000505.4(F12):c.1388-35C>T	F12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 904431	NM_000505.4(F12):c.1387+4C>G	F12	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2870911	NM_000505.4(F12):c.1343G>A (p.Arg448His)	F12 (R448H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2910328	NM_000505.4(F12):c.1329C>T (p.Ala443=)	F12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2141314	NM_000505.4(F12):c.1314G>A (p.Pro438=)	F12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1703830	NM_000505.4(F12):c.1256C>T (p.Ala419Val)	F12 (A419V)	Single nucleotide variant (missense variant)	Thrombus	GUncertain significance
Select item 1879642	NM_000505.4(F12):c.1251-5dup	F12	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 3043999	NM_000505.4(F12):c.1251-5del	F12	Deletion (intron variant)	F12-related condition	GLikely benign
Select item 2890717	NM_000505.4(F12):c.1251-9C>G	F12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 905230	NM_000505.4(F12):c.1251-9C>A	F12	Single nucleotide variant (intron variant)	Hereditary angioedema type 3 +1 more	GConflicting classifications of pathogenicity
Select item 352990	NM_000505.4(F12):c.1251-12C>A	F12	Single nucleotide variant (intron variant)	Hereditary angioedema type 3 +1 more	GUncertain significance
Select item 3091400	NM_000505.4(F12):c.1226C>T (p.Thr409Met)	F12 (T409M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 352991	NM_000505.4(F12):c.1212C>G (p.Pro404=)	F12	Single nucleotide variant (synonymous variant)	Hereditary angioedema type 3 +1 more	GUncertain significance
Select item 906814	NM_000505.4(F12):c.1142G>A (p.Arg381His)	F12 (R381H)	Single nucleotide variant (missense variant)	Factor XII deficiency disease +1 more	GUncertain significance
Select item 2077756	NM_000505.4(F12):c.1125C>G (p.Gly375=)	F12	Single nucleotide variant (synonymous variant)	F12-related condition +1 more	GLikely benign
Select item 352992	NM_000505.4(F12):c.1107G>C (p.Ser369=)	F12	Single nucleotide variant (synonymous variant)	Hereditary angioedema type 3 +2 more	GConflicting classifications of pathogenicity
Select item 2656120	NM_000505.4(F12):c.1101G>C (p.Leu367=)	F12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2463318	NM_000505.4(F12):c.1079G>T (p.Gly360Val)	F12 (G360V)	Single nucleotide variant (missense variant)	Factor XII deficiency disease +1 more	GUncertain significance
Select item 2331332	NM_000505.4(F12):c.1073G>T (p.Ser358Ile)	F12 (S358I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239726	NM_000505.4(F12):c.1064G>T (p.Gly355Val)	F12 (G355V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469248	NM_000505.4(F12):c.1045C>T (p.Pro349Ser)	F12 (P349S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 225352	NM_000505.4(F12):c.1027G>C (p.Ala343Pro)	F12 (A343P)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 2239522	NM_000505.4(F12):c.1025C>G (p.Pro342Arg)	F12 (P342R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 352993	NM_000505.4(F12):c.1025C>T (p.Pro342Leu)	F12 (P342L)	Single nucleotide variant (missense variant)	Factor XII deficiency disease +2 more	GConflicting classifications of pathogenicity
Select item 1181607	NM_000505.4(F12):c.1019-28T>C	F12	Single nucleotide variant (intron variant)	Hereditary angioedema type 3 +1 more	GBenign
Select item 441533	NM_000505.4(F12):c.971_1018+24del	F12	Deletion (splice donor variant)	Hereditary angioedema type 3	GLikely pathogenic
Select item 1300761	NM_000505.4(F12):c.1018+19dup	F12	Duplication (intron variant)	not provided	GBenign/Likely benign
Select item 1230000	NM_000505.4(F12):c.1018+19del	F12	Deletion (intron variant)	not provided +1 more	GBenign
Select item 907810	NM_000505.4(F12):c.1018+14G>T	F12	Single nucleotide variant (intron variant)	Hereditary angioedema type 3 +1 more	GUncertain significance
Select item 352994	NM_000505.4(F12):c.1018+13G>C	F12	Single nucleotide variant (intron variant)	Hereditary angioedema type 3 +2 more	GConflicting classifications of pathogenicity
Select item 352995	NM_000505.4(F12):c.1018+12G>C	F12	Single nucleotide variant (intron variant)	Hereditary angioedema type 3 +2 more	GConflicting classifications of pathogenicity
Select item 1934723	NM_000505.4(F12):c.1018+11G>A	F12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 904493	NM_000505.4(F12):c.1018+11G>T	F12	Single nucleotide variant (intron variant)	Hereditary angioedema type 3 +2 more	GConflicting classifications of pathogenicity
Select item 2852674	NM_000505.4(F12):c.1018+3T>C	F12	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1497286	NM_000505.4(F12):c.1013C>T (p.Pro338Leu)	F12 (P338L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1170	NM_000505.4(F12):c.983C>G (p.Thr328Arg)	F12 (T328R)	Single nucleotide variant (missense variant)	Factor XII deficiency disease +4 more	GPathogenic
Select item 904494	NM_000505.4(F12):c.957G>C (p.Gln319His)	F12 (Q319H)	Single nucleotide variant (missense variant)	Hereditary angioedema type 3 +1 more	GUncertain significance
Select item 3091406	NM_000505.4(F12):c.952G>C (p.Ala318Pro)	F12 (A318P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 352996	NM_000505.4(F12):c.930G>C (p.Arg310Ser)	F12 (R310S)	Single nucleotide variant (missense variant)	Hereditary angioedema type 3 +2 more	GBenign/Likely benign
Select item 352997	NM_000505.4(F12):c.928A>T (p.Arg310Trp)	F12 (R310W)	Single nucleotide variant (missense variant)	Hereditary angioedema type 3 +1 more	GUncertain significance
Select item 2550814	NM_000505.4(F12):c.925C>T (p.Pro309Ser)	F12 (P309S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2158503	NM_000505.4(F12):c.923C>T (p.Ser308Phe)	F12 (S308F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1510718	NM_000505.4(F12):c.923C>A (p.Ser308Tyr)	F12 (S308Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2723904	NM_000505.4(F12):c.922T>A (p.Ser308Thr)	F12 (S308T)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 403709	NM_000505.4(F12):c.894_911dup (p.Gln300_Thr305dup)	F12	Duplication (inframe_insertion)	Hereditary angioedema type 3	GPathogenic
Select item 1997627	NM_000505.4(F12):c.876G>A (p.Leu292=)	F12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2441320	NM_000505.4(F12):c.842A>G (p.Asn281Ser)	F12 (N281S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3091405	NM_000505.4(F12):c.836T>C (p.Val279Ala)	F12 (V279A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 695874	NM_000505.4(F12):c.800+8G>A	F12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1473234	NM_000505.4(F12):c.800+1G>A	F12	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1984754	NM_000505.4(F12):c.759G>A (p.Glu253=)	F12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 696497	NM_000505.4(F12):c.757G>C (p.Glu253Gln)	F12 (E253Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 352998	NM_000505.4(F12):c.756C>T (p.Ala252=)	F12	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 2441321	NM_000505.4(F12):c.720G>A (p.Pro240=)	F12	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 352999	NM_000505.4(F12):c.711C>T (p.Pro237=)	F12	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 353000	NM_000505.4(F12):c.630C>T (p.Asp210=)	F12	Single nucleotide variant (synonymous variant)	Hereditary angioedema type 3 +1 more	GUncertain significance
Select item 256310	NM_000505.4(F12):c.619G>C (p.Ala207Pro)	F12 (A207P)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 2572099	NM_000505.4(F12):c.586C>T (p.Arg196Cys)	F12 (R196C)	Single nucleotide variant (missense variant)	Factor XII deficiency disease	GUncertain significance
Select item 2130288	NM_000505.4(F12):c.577G>T (p.Glu193Ter)	F12 (E193*)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 983439	NM_000505.4(F12):c.530C>T (p.Ala177Val)	F12 (A177V)	Single nucleotide variant (missense variant)	Hereditary angioedema type 3	GBenign
Select item 1249273	NM_000505.4(F12):c.530-65A>G	F12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288803	NM_000505.4(F12):c.529+23G>A	F12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2409724	NM_000505.4(F12):c.475G>A (p.Ala159Thr)	F12 (A159T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2892953	NM_000505.4(F12):c.425G>A (p.Arg142Gln)	F12 (R142Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 353001	NM_000505.4(F12):c.418C>G (p.Leu140Val)	F12 (L140V)	Single nucleotide variant (missense variant)	Factor XII deficiency disease +3 more	GConflicting classifications of pathogenicity
Select item 2671919	NM_000505.4(F12):c.415C>T (p.Gln139Ter)	F12 (Q139*)	Single nucleotide variant (nonsense)	Factor XII deficiency disease	GLikely pathogenic

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