SERPINF2[gene] and "single gene"[properties] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 256836	NM_000934.4(SERPINF2):c.5C>T (p.Ala2Val)	SERPINF2 (A2V)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 2268817	NM_000934.4(SERPINF2):c.36G>C (p.Trp12Cys)	SERPINF2 (W12C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 627107	NM_000934.4(SERPINF2):c.64-3C>T	SERPINF2	Single nucleotide variant (intron variant)	Abnormal bleeding	GUncertain significance
Select item 728494	NM_000934.4(SERPINF2):c.78C>T (p.Ser26=)	SERPINF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 256837	NM_000934.4(SERPINF2):c.97C>T (p.Arg33Trp)	SERPINF2 (R33W)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 710823	NM_000934.4(SERPINF2):c.102+5T>G	SERPINF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3039899	NM_000934.4(SERPINF2):c.103-5C>T	SERPINF2	Single nucleotide variant (intron variant)	SERPINF2-related disorder	GLikely benign
Select item 2050407	NM_000934.4(SERPINF2):c.103-2A>G	SERPINF2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 731846	NM_000934.4(SERPINF2):c.111C>T (p.Ser37=)	SERPINF2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3317638	NM_000934.4(SERPINF2):c.112G>A (p.Gly38Arg)	SERPINF2 (G38R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226657	NM_000934.4(SERPINF2):c.116C>T (p.Pro39Leu)	SERPINF2 (P39L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710407	NM_000934.4(SERPINF2):c.117G>A (p.Pro39=)	SERPINF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 729421	NM_000934.4(SERPINF2):c.166-6C>T	SERPINF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2610676	NM_000934.4(SERPINF2):c.170C>G (p.Pro57Arg)	SERPINF2 (P57R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 256835	NM_000934.4(SERPINF2):c.186C>T (p.Ala62=)	SERPINF2	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 2616197	NM_000934.4(SERPINF2):c.196C>A (p.Pro66Thr)	SERPINF2 (P66T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618808	NM_000934.4(SERPINF2):c.224C>A (p.Thr75Asn)	SERPINF2 (T75N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477075	NM_000934.4(SERPINF2):c.248C>G (p.Ala83Gly)	SERPINF2 (A83G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394287	NM_000934.4(SERPINF2):c.251G>A (p.Arg84Gln)	SERPINF2 (R84Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2647209	NM_000934.4(SERPINF2):c.357C>A (p.His119Gln)	SERPINF2 (H119Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2196993	NM_000934.4(SERPINF2):c.361G>A (p.Ala121Thr)	SERPINF2 (A121T)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1282784	NM_000934.4(SERPINF2):c.367+64A>G	SERPINF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237847	NM_000934.4(SERPINF2):c.368-145C>T	SERPINF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 724613	NM_000934.4(SERPINF2):c.412G>A (p.Ala138Thr)	SERPINF2 (A138T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3160489	NM_000934.4(SERPINF2):c.472G>A (p.Gly158Ser)	SERPINF2 (G158S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038248	NM_000934.4(SERPINF2):c.473G>A (p.Gly158Asp)	SERPINF2 (G158D +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3160491	NM_000934.4(SERPINF2):c.498G>A (p.Met166Ile)	SERPINF2 (M166I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047785	NM_000934.4(SERPINF2):c.511+6C>T	SERPINF2	Single nucleotide variant (intron variant)	SERPINF2-related disorder	GLikely benign
Select item 734564	NM_000934.4(SERPINF2):c.512-6G>A	SERPINF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 275	NM_000934.4(SERPINF2):c.525AGA[1] (p.Glu176del)	SERPINF2 (E112del +1 more)	Microsatellite (inframe_deletion)	Alpha-2-plasmin inhibitor deficiency	GPathogenic
Select item 3317639	NM_000934.4(SERPINF2):c.538G>A (p.Glu180Lys)	SERPINF2 (E116K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 626930	NM_000934.4(SERPINF2):c.561_565del (p.Lys189fs)	SERPINF2 (K125fs +1 more)	Deletion (frameshift variant)	Abnormal bleeding	GPathogenic
Select item 729754	NM_000934.4(SERPINF2):c.603G>A (p.Leu201=)	SERPINF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2207301	NM_000934.4(SERPINF2):c.682G>C (p.Val228Leu)	SERPINF2 (V228L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3028949	NM_000934.4(SERPINF2):c.699C>T (p.Asn233=)	SERPINF2	Single nucleotide variant (synonymous variant)	SERPINF2-related disorder	GLikely benign
Select item 2470463	NM_000934.4(SERPINF2):c.700G>A (p.Ala234Thr)	SERPINF2 (A170T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1226374	NM_000934.4(SERPINF2):c.715+212C>T	SERPINF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281687	NM_000934.4(SERPINF2):c.716-112A>G	SERPINF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1137989	NM_000934.4(SERPINF2):c.725G>A (p.Arg242Lys)	SERPINF2 (R178K +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2050899	NM_000934.4(SERPINF2):c.812G>A (p.Arg271His)	SERPINF2 (R271H +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 808192	NM_000934.4(SERPINF2):c.815C>T (p.Thr272Met)	SERPINF2 (T272M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 740162	NM_000934.4(SERPINF2):c.822G>A (p.Pro274=)	SERPINF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 808193	NM_000934.4(SERPINF2):c.852G>T (p.Glu284Asp)	SERPINF2 (E284D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3160492	NM_000934.4(SERPINF2):c.856C>G (p.Gln286Glu)	SERPINF2 (Q286E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779974	NM_000934.4(SERPINF2):c.903T>G (p.Leu301=)	SERPINF2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2647210	NM_000934.4(SERPINF2):c.927C>T (p.Asn309=)	SERPINF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1280069	NM_000934.4(SERPINF2):c.1063+131G>A	SERPINF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 760712	NM_000934.4(SERPINF2):c.1064-7T>C	SERPINF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2617195	NM_000934.4(SERPINF2):c.1083G>C (p.Gln361His)	SERPINF2 (Q297H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245747	NM_000934.4(SERPINF2):c.1096C>T (p.Arg366Cys)	SERPINF2 (R302C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 256833	NM_000934.4(SERPINF2):c.1107C>T (p.Ser369=)	SERPINF2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 2568708	NM_000934.4(SERPINF2):c.1161C>G (p.Ser387Arg)	SERPINF2 (S387R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 734277	NM_000934.4(SERPINF2):c.1164G>A (p.Glu388=)	SERPINF2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 761520	NM_000934.4(SERPINF2):c.1179G>A (p.Ala393=)	SERPINF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3317640	NM_000934.4(SERPINF2):c.1184C>T (p.Ala395Val)	SERPINF2 (A331V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491800	NM_000934.4(SERPINF2):c.1192A>T (p.Ser398Cys)	SERPINF2 (S334C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 276	NM_000934.4(SERPINF2):c.1231G>A (p.Val411Met)	SERPINF2 (V347M +1 more)	Single nucleotide variant (missense variant)	Alpha-2-plasmin inhibitor deficiency	GPathogenic
Select item 3053153	NM_000934.4(SERPINF2):c.1287C>T (p.Phe429=)	SERPINF2	Single nucleotide variant (synonymous variant)	SERPINF2-related disorder	GLikely benign
Select item 256834	NM_000934.4(SERPINF2):c.1301G>A (p.Arg434Lys)	SERPINF2 (R434K +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 1095026	NM_000934.4(SERPINF2):c.1351C>T (p.Pro451Ser)	SERPINF2 (P387S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2289513	NM_000934.4(SERPINF2):c.1384G>A (p.Gly462Ser)	SERPINF2 (G462S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2071361	NM_000934.4(SERPINF2):c.1385G>C (p.Gly462Ala)	SERPINF2 (G398A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3160488	NM_000934.4(SERPINF2):c.1393C>T (p.Arg465Cys)	SERPINF2 (R401C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1159848	NM_000934.4(SERPINF2):c.1396G>A (p.Gly466Arg)	SERPINF2 (G402R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 274	NM_000934.4(SERPINF2):c.1437dup (p.Met480fs)	SERPINF2 (M416fs +1 more)	Duplication (frameshift variant)	Alpha-2-plasmin inhibitor deficiency	GPathogenic
Select item 2309059	NM_000934.4(SERPINF2):c.1460T>C (p.Phe487Ser)	SERPINF2 (F423S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1291982	NM_000934.4(SERPINF2):c.*71G>T	SERPINF2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign

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Items: 67