ClinVar for MedGen (Select 403466) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3391803	NM_000062.3(SERPING1):c.890-1G>A	SERPING1	Single nucleotide variant (splice acceptor variant)	Hereditary angioedema type 1	GPathogenic
Select item 3391112	NM_000062.3(SERPING1):c.1350dup (p.Glu451fs)	SERPING1 (E451fs)	Duplication (frameshift variant)	Hereditary angioedema type 1	GPathogenic
Select item 3362721	NM_000062.3(SERPING1):c.373G>T (p.Gly125Ter)	SERPING1 (G125*)	Single nucleotide variant (nonsense)	Hereditary angioedema type 1	GPathogenic
Select item 3358886	NM_000062.3(SERPING1):c.1477G>C (p.Gly493Arg)	SERPING1 (G493R)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1	GPathogenic/Likely pathogenic
Select item 3358885	NM_000062.3(SERPING1):c.1202T>C (p.Ile401Thr)	SERPING1 (I401T)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1	GLikely pathogenic
Select item 3340462	NM_000062.3(SERPING1):c.771_774delinsTCATCAACTGTTGATGAG (p.Asn258fs)	SERPING1 (N258fs)	Indel (frameshift variant)	Hereditary angioedema type 1	GPathogenic
Select item 3338297	NM_000062.3(SERPING1):c.82dup (p.Ser28fs)	SERPING1 (S28fs)	Duplication (frameshift variant)	Hereditary angioedema type 1	GPathogenic
Select item 3338295	NM_000062.3(SERPING1):c.308_311dup (p.Gln104fs)	SERPING1 (Q104fs)	Microsatellite (frameshift variant)	Hereditary angioedema type 1	GPathogenic
Select item 3338294	NM_000062.3(SERPING1):c.620A>G (p.His207Arg)	SERPING1 (H207R)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1	GLikely pathogenic
Select item 3338293	NM_000062.3(SERPING1):c.1479dup (p.Arg494fs)	SERPING1 (R494fs)	Duplication (frameshift variant)	Hereditary angioedema type 1	GLikely pathogenic
Select item 3338292	NM_000062.3(SERPING1):c.1108_1115delinsGATGCTCTCAGCCCTTCTGTTTTCAAGGCCATCATGGAGAAACT (p.Met370_Gln372delinsAspAlaLeuSerProSerValPheLysAlaIleMetGluLysLeu)	SERPING1	Indel (inframe_indel)	Hereditary angioedema type 1	GLikely pathogenic
Select item 3338034	NM_000062.3(SERPING1):c.998C>A (p.Ala333Asp)	SERPING1 (A333D)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1	GLikely pathogenic
Select item 3338033	NM_000062.3(SERPING1):c.954del (p.Val319fs)	SERPING1 (V319fs)	Deletion (frameshift variant)	Hereditary angioedema type 1	GPathogenic
Select item 3338032	NM_000062.3(SERPING1):c.925A>T (p.Arg309Ter)	SERPING1 (R309*)	Single nucleotide variant (nonsense)	Hereditary angioedema type 1	GPathogenic
Select item 3338023	NM_000062.3(SERPING1):c.889+81G>C	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1	GUncertain significance
Select item 3338022	NM_000062.3(SERPING1):c.874G>C (p.Ala292Pro)	SERPING1 (A292P)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1	GLikely pathogenic
Select item 3338010	NM_000062.3(SERPING1):c.971T>A (p.Met324Lys)	SERPING1 (M324K)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1	GLikely pathogenic
Select item 3338009	NM_000062.3(SERPING1):c.995T>G (p.Val332Gly)	SERPING1 (V332G)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1	GLikely pathogenic
Select item 3338008	NM_000062.3(SERPING1):c.976_979delinsTACCCTGT (p.Asn326fs)	SERPING1 (N326fs)	Indel (frameshift variant)	Hereditary angioedema type 1	GPathogenic
Select item 3338007	NM_000062.3(SERPING1):c.950del (p.Asn317fs)	SERPING1 (N317fs)	Deletion (frameshift variant)	Hereditary angioedema type 1	GPathogenic
Select item 3338006	NM_000062.3(SERPING1):c.937T>C (p.Phe313Leu)	SERPING1 (F313L)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1	GPathogenic
Select item 3338005	NM_000062.3(SERPING1):c.896G>A (p.Trp299Ter)	SERPING1 (W299*)	Single nucleotide variant (nonsense)	Hereditary angioedema type 1	GPathogenic
Select item 3338004	NM_000062.3(SERPING1):c.865CTC[1] (p.Leu290del)	SERPING1 (L290del)	Microsatellite	Hereditary angioedema type 1	GPathogenic
Select item 3338003	NM_000062.3(SERPING1):c.860T>G (p.Leu287Arg)	SERPING1 (L287R)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1	GPathogenic
Select item 3338002	NM_000062.3(SERPING1):c.860T>C (p.Leu287Pro)	SERPING1 (L287P)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1	GPathogenic
Select item 3336841	NM_000062.3(SERPING1):c.820A>G (p.Ile274Val)	SERPING1 (I274V)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1	GLikely pathogenic
Select item 3336840	NM_000062.3(SERPING1):c.704_721del (p.Thr235_Ser240del)	SERPING1	Deletion (inframe_deletion)	Hereditary angioedema type 1	GLikely pathogenic
Select item 3336839	NM_000062.3(SERPING1):c.64dup (p.Ser22fs)	SERPING1 (S22fs)	Duplication (frameshift variant)	Hereditary angioedema type 1	GPathogenic
Select item 3336828	NM_000062.3(SERPING1):c.594_600del (p.Tyr199fs)	SERPING1 (Y199fs)	Deletion (frameshift variant)	Hereditary angioedema type 1	GPathogenic
Select item 3336827	NM_000062.3(SERPING1):c.6_13del (p.Ser3fs)	SERPING1 (S3fs)	Deletion (frameshift variant +1 more)	Hereditary angioedema type 1	GPathogenic
Select item 3336826	NM_000062.3(SERPING1):c.554C>A (p.Ala185Asp)	SERPING1 (A185D)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1	GPathogenic
Select item 3336825	NM_000062.3(SERPING1):c.722G>C (p.Arg241Pro)	SERPING1 (R241P)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1	GLikely pathogenic
Select item 3336809	NM_000062.3(SERPING1):c.779_780del (p.Glu260fs)	SERPING1 (E260fs)	Deletion (frameshift variant)	Hereditary angioedema type 1	GPathogenic
Select item 3336808	NM_000062.3(SERPING1):c.744dup (p.Arg249fs)	SERPING1 (R249fs)	Duplication (frameshift variant)	Hereditary angioedema type 1	GPathogenic
Select item 3336807	NM_000062.3(SERPING1):c.723dup (p.Thr242fs)	SERPING1 (T242fs)	Duplication (frameshift variant)	Hereditary angioedema type 1	GPathogenic
Select item 3336803	NM_000062.3(SERPING1):c.707T>C (p.Phe236Ser)	SERPING1 (F236S)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1	GPathogenic
Select item 3336799	NM_000062.3(SERPING1):c.685+4dup	SERPING1	Duplication (intron variant)	Hereditary angioedema type 1	GLikely pathogenic
Select item 3336798	NM_000062.3(SERPING1):c.685+1del	SERPING1	Deletion (splice donor variant)	Hereditary angioedema type 1	GPathogenic
Select item 3336797	NM_000062.3(SERPING1):c.667C>T (p.Gln223Ter)	SERPING1 (Q223*)	Single nucleotide variant (nonsense)	Hereditary angioedema type 1	GPathogenic
Select item 3336796	NM_000062.3(SERPING1):c.666_667del (p.Gln223fs)	SERPING1 (Q223fs)	Microsatellite (frameshift variant)	Hereditary angioedema type 1	GPathogenic
Select item 3336792	NM_000062.3(SERPING1):c.793T>C (p.Trp265Arg)	SERPING1 (W265R)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1	GPathogenic
Select item 3336726	NM_000062.3(SERPING1):c.794G>A (p.Trp265Ter)	SERPING1 (W265*)	Single nucleotide variant (nonsense)	Hereditary angioedema type 1	GPathogenic
Select item 3336724	NM_000062.3(SERPING1):c.793_794insTGGCCACCT (p.Thr264_Trp265insLeuAlaThr)	SERPING1	Insertion (inframe_insertion)	Hereditary angioedema type 1	GLikely pathogenic
Select item 3336723	NM_000062.3(SERPING1):c.787_794dup (p.Trp265Ter)	SERPING1 (W265*)	Duplication (nonsense)	Hereditary angioedema type 1	GPathogenic
Select item 3336722	NM_000062.3(SERPING1):c.79_85del (p.Thr27fs)	SERPING1 (T27fs)	Deletion (frameshift variant)	Hereditary angioedema type 1	GPathogenic
Select item 3336720	NM_000062.3(SERPING1):c.539_543delinsT (p.Gln180fs)	SERPING1 (Q180fs)	Indel (frameshift variant)	Hereditary angioedema type 1	GPathogenic
Select item 3336719	NM_000062.3(SERPING1):c.519C>A (p.Ser173Arg)	SERPING1 (S173R)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1	GLikely pathogenic
Select item 3336718	NM_000062.3(SERPING1):c.516del (p.Phe172fs)	SERPING1 (F172fs)	Deletion (frameshift variant)	Hereditary angioedema type 1	GPathogenic
Select item 3336717	NM_000062.3(SERPING1):c.473C>G (p.Ser158Ter)	SERPING1 (S158*)	Single nucleotide variant (nonsense)	Hereditary angioedema type 1	GPathogenic
Select item 3336700	NM_000062.3(SERPING1):c.452T>C (p.Leu151Pro)	SERPING1 (L151P)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1	GLikely pathogenic
Select item 3336698	NM_000062.3(SERPING1):c.449C>T (p.Ser150Phe)	SERPING1 (S150F)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1	GPathogenic
Select item 3336697	NM_000062.3(SERPING1):c.437del (p.Leu146fs)	SERPING1 (L146fs)	Deletion (frameshift variant)	Hereditary angioedema type 1	GPathogenic
Select item 3336696	NM_000062.3(SERPING1):c.430del (p.Asp144fs)	SERPING1 (D144fs)	Deletion (frameshift variant)	Hereditary angioedema type 1	GPathogenic
Select item 3335951	NM_000062.3(SERPING1):c.415G>T (p.Glu139Ter)	SERPING1 (E139*)	Single nucleotide variant (nonsense)	Hereditary angioedema type 1	GPathogenic
Select item 3335950	NM_000062.3(SERPING1):c.403_418del (p.Ser135fs)	SERPING1 (S135fs)	Deletion (frameshift variant)	Hereditary angioedema type 1	GPathogenic
Select item 3335949	NM_000062.3(SERPING1):c.403_404del (p.His136fs)	SERPING1 (H136fs)	Microsatellite (frameshift variant)	Hereditary angioedema type 1	GPathogenic
Select item 3257750	NM_000062.3(SERPING1):c.1478G>A (p.Gly493Glu)	SERPING1 (G493E)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1	GPathogenic
Select item 3257749	NM_000062.3(SERPING1):c.1479del (p.Arg494fs)	SERPING1 (R494fs)	Deletion (frameshift variant)	Hereditary angioedema type 1	GLikely pathogenic
Select item 3257748	NM_000062.3(SERPING1):c.1481delinsCTGACCCCATGA (p.Arg494fs)	SERPING1 (R494fs)	Indel (frameshift variant)	Hereditary angioedema type 1	GLikely pathogenic
Select item 3257747	NM_000062.3(SERPING1):c.1246_1247insGCTCTCAAATCA (p.Leu416delinsCysSerGlnIleMet)	SERPING1	Insertion (inframe_indel)	Hereditary angioedema type 1	GLikely pathogenic
Select item 3257746	NM_000062.3(SERPING1):c.208_212del (p.Ser70fs)	SERPING1 (S70fs)	Deletion (frameshift variant)	Hereditary angioedema type 1	GPathogenic
Select item 3257745	NM_000062.3(SERPING1):c.285del (p.Thr96fs)	SERPING1 (T96fs)	Deletion (frameshift variant)	Hereditary angioedema type 1	GPathogenic
Select item 3257744	NM_000062.3(SERPING1):c.301C>T (p.Gln101Ter)	SERPING1 (Q101*)	Single nucleotide variant (nonsense)	Hereditary angioedema type 1	GPathogenic
Select item 3257743	NM_000062.3(SERPING1):c.310C>T (p.Gln104Ter)	SERPING1 (Q104*)	Single nucleotide variant (nonsense)	Hereditary angioedema type 1	GPathogenic
Select item 3256528	NM_000062.3(SERPING1):c.1352A>G (p.Glu451Gly)	SERPING1 (E451G)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1	GLikely pathogenic
Select item 3256527	NM_000062.3(SERPING1):c.1265del (p.Ser422fs)	SERPING1 (S422fs)	Deletion (frameshift variant)	Hereditary angioedema type 1	GPathogenic
Select item 3256143	NM_000062.3(SERPING1):c.1391_1392del (p.Val464fs)	SERPING1 (V464fs)	Microsatellite (frameshift variant)	Hereditary angioedema type 1	GLikely pathogenic
Select item 3256142	NM_000062.3(SERPING1):c.1396C>G (p.Arg466Gly)	SERPING1 (R466G)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1	GPathogenic
Select item 3256141	NM_000062.3(SERPING1):c.1412T>C (p.Phe471Ser)	SERPING1 (F471S)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1	GLikely pathogenic
Select item 3256140	NM_000062.3(SERPING1):c.1439T>A (p.Val480Glu)	SERPING1 (V480E)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1	GLikely pathogenic
Select item 3256139	NM_000062.3(SERPING1):c.1442T>C (p.Leu481Pro)	SERPING1 (L481P)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1	GPathogenic
Select item 3256138	NM_000062.3(SERPING1):c.1379C>A (p.Ser460Tyr)	SERPING1 (S460Y)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1	GLikely pathogenic
Select item 3256137	NM_000062.3(SERPING1):c.1376C>A (p.Ala459Asp)	SERPING1 (A459D)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1	GPathogenic
Select item 3256136	NM_000062.3(SERPING1):c.1375G>C (p.Ala459Pro)	SERPING1 (A459P)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1	GPathogenic
Select item 3256135	NM_000062.3(SERPING1):c.1367C>A (p.Ala456Glu)	SERPING1 (A456E)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1	GPathogenic
Select item 3256133	NM_000062.3(SERPING1):c.1328A>G (p.His443Arg)	SERPING1 (H443R)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1	GPathogenic
Select item 3256132	NM_000062.3(SERPING1):c.1325del (p.Gln442fs)	SERPING1 (Q442fs)	Deletion (frameshift variant)	Hereditary angioedema type 1	GLikely pathogenic
Select item 3256131	NM_000062.3(SERPING1):c.1324C>T (p.Gln442Ter)	SERPING1 (Q442*)	Single nucleotide variant (nonsense)	Hereditary angioedema type 1	GPathogenic
Select item 3256130	NM_000062.3(SERPING1):c.130A>T (p.Lys44Ter)	SERPING1 (K44*)	Single nucleotide variant (nonsense)	Hereditary angioedema type 1	GPathogenic
Select item 3256129	NM_000062.3(SERPING1):c.1323_1344del (p.Met441fs)	SERPING1 (M441fs)	Deletion (frameshift variant)	Hereditary angioedema type 1	GLikely pathogenic
Select item 3256127	NM_000062.3(SERPING1):c.1293del (p.Glu432fs)	SERPING1 (E432fs)	Deletion (frameshift variant)	Hereditary angioedema type 1	GPathogenic
Select item 3256124	NM_000062.3(SERPING1):c.1289_1299del (p.Leu430fs)	SERPING1 (L430fs)	Deletion (frameshift variant)	Hereditary angioedema type 1	GLikely pathogenic
Select item 3256123	NM_000062.3(SERPING1):c.1280T>C (p.Leu427Pro)	SERPING1 (L427P)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1	GLikely pathogenic
Select item 3256122	NM_000062.3(SERPING1):c.1264dup (p.Ser422fs)	SERPING1 (S422fs)	Duplication (frameshift variant)	Hereditary angioedema type 1	GPathogenic
Select item 3256121	NM_000062.3(SERPING1):c.1250-1G>A	SERPING1	Single nucleotide variant (splice acceptor variant)	Hereditary angioedema type 1	GPathogenic
Select item 3256120	NM_000062.3(SERPING1):c.1249+1G>A	SERPING1	Single nucleotide variant (splice donor variant)	Hereditary angioedema type 1	GPathogenic
Select item 3255556	NM_000062.3(SERPING1):c.1048T>C (p.Ser350Pro)	SERPING1 (S350P)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1	GLikely pathogenic
Select item 3255531	NM_000062.3(SERPING1):c.1226T>C (p.Met409Thr)	SERPING1 (M409T)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1	GPathogenic
Select item 3255530	NM_000062.3(SERPING1):c.1216del (p.Ser406fs)	SERPING1 (S406fs)	Deletion (frameshift variant)	Hereditary angioedema type 1	GPathogenic
Select item 3255512	NM_000062.3(SERPING1):c.115del (p.Asp39fs)	SERPING1 (D39fs)	Deletion (frameshift variant)	Hereditary angioedema type 1	GPathogenic
Select item 3255511	NM_000062.3(SERPING1):c.1113del (p.Glu371fs)	SERPING1 (E371fs)	Deletion (frameshift variant)	Hereditary angioedema type 1	GPathogenic
Select item 3255510	NM_000062.3(SERPING1):c.1193_1195dup (p.Leu398_Pro399insLeu)	SERPING1	Duplication (inframe_insertion)	Hereditary angioedema type 1	GLikely pathogenic
Select item 3255508	NM_000062.3(SERPING1):c.110dup (p.Leu37fs)	SERPING1 (L37fs)	Duplication (frameshift variant)	Hereditary angioedema type 1	GPathogenic
Select item 3255499	NM_000062.3(SERPING1):c.1466C>G (p.Pro489Arg)	SERPING1 (P489R)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1	GPathogenic
Select item 3255498	NM_000062.3(SERPING1):c.1229T>C (p.Leu410Pro)	SERPING1 (L410P)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1	GLikely pathogenic
Select item 3255497	NM_000062.3(SERPING1):c.751del (p.Val250_Leu251insTer)	SERPING1	Deletion (nonsense)	Hereditary angioedema type 1	GPathogenic
Select item 3255496	NM_000062.3(SERPING1):c.971T>G (p.Met324Arg)	SERPING1 (M324R)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1	GPathogenic
Select item 3255494	NM_000062.3(SERPING1):c.1153A>T (p.Lys385Ter)	SERPING1 (K385*)	Single nucleotide variant (nonsense)	Hereditary angioedema type 1	GPathogenic
Select item 3255492	NM_000062.3(SERPING1):c.1430T>C (p.Phe477Ser)	SERPING1 (F477S)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1	GPathogenic
Select item 3255487	NM_000062.3(SERPING1):c.674T>C (p.Phe225Ser)	SERPING1 (F225S)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1	GPathogenic

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