Related gene-specific medical variations for Gene (Select 710) - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3255467	NM_000062.3(SERPING1):c.35T>G (p.Leu12Arg)	SERPING1 (L12R)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1	GLikely pathogenic
Select item 3244709	NC_000011.9:g.(?_57364265)_(57367645_?)del	SERPING1	Deletion	not provided	GPathogenic
Select item 2435815	NM_000062.3(SERPING1):c.1465C>G (p.Pro489Ala)	SERPING1 (P489A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1690315	NM_000062.3(SERPING1):c.377del (p.Pro126fs)	SERPING1 (P126fs)	Deletion (frameshift variant)	Hereditary angioedema with C1Inh deficiency	GPathogenic
Select item 1329455	NM_000062.3(SERPING1):c.1269T>A (p.Tyr423Ter)	SERPING1 (Y423*)	Single nucleotide variant (nonsense)	Hereditary angioedema with C1Inh deficiency	GPathogenic
Select item 1329454	NM_000062.3(SERPING1):c.748_749del (p.Val250fs)	SERPING1 (V250fs)	Deletion (frameshift variant)	Hereditary angioedema with C1Inh deficiency	GPathogenic
Select item 1329453	NM_000062.3(SERPING1):c.330_331insC (p.Thr111fs)	SERPING1 (T111fs)	Insertion (frameshift variant)	Hereditary angioedema with C1Inh deficiency	GPathogenic
Select item 1299746	NM_000062.3(SERPING1):c.550+1G>T	SERPING1	Single nucleotide variant (splice donor variant)	Hereditary angioedema with C1Inh deficiency	GPathogenic
Select item 1299744	NM_000062.3(SERPING1):c.232del (p.Lys77_Ile78insTer)	SERPING1	Deletion (nonsense)	Hereditary angioedema with C1Inh deficiency	GPathogenic
Select item 1299743	NM_000062.3(SERPING1):c.229A>T (p.Lys77Ter)	SERPING1 (K77*)	Single nucleotide variant (nonsense)	Hereditary angioedema with C1Inh deficiency	GPathogenic
Select item 1299742	NM_000062.3(SERPING1):c.197dup (p.Thr67fs)	SERPING1 (T67fs)	Duplication (frameshift variant)	Hereditary angioedema with C1Inh deficiency	GPathogenic
Select item 1299741	NM_000062.3(SERPING1):c.1425G>T (p.Gln475His)	SERPING1 (Q475H)	Single nucleotide variant (missense variant)	Hereditary angioedema with C1Inh deficiency	GLikely pathogenic
Select item 1299740	NM_000062.3(SERPING1):c.1424A>C (p.Gln475Pro)	SERPING1 (Q475P)	Single nucleotide variant (missense variant)	Hereditary angioedema with C1Inh deficiency	GLikely pathogenic
Select item 1299739	NM_000062.3(SERPING1):c.172_181del (p.Pro58fs)	SERPING1 (P58fs)	Deletion (frameshift variant)	Hereditary angioedema with C1Inh deficiency	GPathogenic
Select item 1299738	NM_000062.3(SERPING1):c.1422G>C (p.Gln474His)	SERPING1 (Q474H)	Single nucleotide variant (missense variant)	Hereditary angioedema with C1Inh deficiency	GLikely pathogenic
Select item 1299737	NM_000062.3(SERPING1):c.1379C>G (p.Ser460Cys)	SERPING1 (S460C)	Single nucleotide variant (missense variant)	Hereditary angioedema with C1Inh deficiency	GLikely pathogenic
Select item 1299735	NM_000062.3(SERPING1):c.1249+2T>C	SERPING1	Single nucleotide variant (splice donor variant)	Hereditary angioedema with C1Inh deficiency	GPathogenic
Select item 1299733	NM_000062.3(SERPING1):c.1192C>G (p.Leu398Val)	SERPING1 (L398V)	Single nucleotide variant (missense variant)	Hereditary angioedema with C1Inh deficiency	GLikely pathogenic
Select item 1299731	NM_000062.3(SERPING1):c.1100T>G (p.Leu367Arg)	SERPING1 (L367R)	Single nucleotide variant (missense variant)	Hereditary angioedema with C1Inh deficiency	GLikely pathogenic
Select item 1299730	NM_000062.3(SERPING1):c.1094dup (p.His365fs)	SERPING1 (H365fs)	Duplication (frameshift variant)	Hereditary angioedema with C1Inh deficiency	GPathogenic
Select item 1299729	NM_000062.3(SERPING1):c.1051del (p.His351fs)	SERPING1 (H351fs)	Deletion (frameshift variant)	Hereditary angioedema with C1Inh deficiency	GPathogenic
Select item 1299728	NM_000062.3(SERPING1):c.100C>A (p.Pro34Thr)	SERPING1 (P34T)	Single nucleotide variant (missense variant)	Hereditary angioedema with C1Inh deficiency	GUncertain significance
Select item 1299727	NM_000062.3(SERPING1):c.1019del (p.Thr339_Leu340insTer)	SERPING1	Deletion (nonsense)	Hereditary angioedema with C1Inh deficiency	GPathogenic
Select item 1299726	NM_000062.3(SERPING1):c.983_984delinsC (p.Lys328fs)	SERPING1 (K328fs)	Indel (frameshift variant)	Hereditary angioedema with C1Inh deficiency	GPathogenic
Select item 1299725	NM_000062.3(SERPING1):c.951dup (p.Ser318fs)	SERPING1 (S318fs)	Duplication (frameshift variant)	Hereditary angioedema with C1Inh deficiency	GPathogenic
Select item 1299724	NM_000062.3(SERPING1):c.941_942insTC (p.Phe315fs)	SERPING1 (F315fs)	Insertion (frameshift variant)	Hereditary angioedema with C1Inh deficiency	GPathogenic
Select item 1299723	NM_000062.3(SERPING1):c.785dup (p.Asn263fs)	SERPING1 (N263fs)	Duplication (frameshift variant)	Hereditary angioedema with C1Inh deficiency	GPathogenic
Select item 1299722	NM_000062.3(SERPING1):c.779dup (p.Leu261fs)	SERPING1 (L261fs)	Duplication (frameshift variant)	Hereditary angioedema with C1Inh deficiency	GPathogenic
Select item 1299721	NM_000062.3(SERPING1):c.733_736dup (p.Ser246fs)	SERPING1 (S246fs)	Duplication (frameshift variant)	Hereditary angioedema with C1Inh deficiency	GPathogenic
Select item 1299720	NM_000062.3(SERPING1):c.708T>G (p.Phe236Leu)	SERPING1 (F236L)	Single nucleotide variant (missense variant)	Hereditary angioedema with C1Inh deficiency	GLikely pathogenic
Select item 1299719	NM_000062.3(SERPING1):c.673_675del (p.Phe225del)	SERPING1 (F225del)	Deletion (inframe_deletion)	Hereditary angioedema with C1Inh deficiency	GPathogenic
Select item 1299718	NM_000062.3(SERPING1):c.635dup (p.Phe213fs)	SERPING1 (F213fs)	Duplication (frameshift variant)	Hereditary angioedema with C1Inh deficiency	GPathogenic
Select item 1299717	NM_000062.3(SERPING1):c.74del (p.Asn25fs)	SERPING1 (N25fs)	Deletion (frameshift variant)	Hereditary angioedema with C1Inh deficiency	GPathogenic
Select item 689537	NM_000062.3(SERPING1):c.1249+5G>C	SERPING1	Single nucleotide variant (intron variant)	Angioedema	GUncertain significance
Select item 689536	NM_000062.3(SERPING1):c.369C>G (p.Cys123Trp)	SERPING1 (C123W)	Single nucleotide variant (missense variant)	Angioedema	GUncertain significance
Select item 689535	NM_000062.3(SERPING1):c.51+1del	SERPING1	Deletion (splice donor variant)	Angioedema	GLikely pathogenic
Select item 427759	NM_000062.3(SERPING1):c.1475T>C (p.Met492Thr)	SERPING1 (M492T)	Single nucleotide variant (missense variant)	Angioedema	GLikely pathogenic
Select item 92195	NM_000062.3(SERPING1):c.51G>A (p.Gly17=)	SERPING1	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 68256	NM_000062.3(SERPING1):c.895T>C (p.Trp299Arg)	SERPING1 (W299R)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 68252	NM_000062.3(SERPING1):c.509C>T (p.Ser170Phe)	SERPING1 (S170F)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 68248	NM_000062.3(SERPING1):c.1418T>G (p.Val473Gly)	SERPING1 (V473G)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 68246	NM_000062.3(SERPING1):c.1340T>C (p.Leu447Pro)	SERPING1 (L447P)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 68245	NM_000062.3(SERPING1):c.1322T>C (p.Met441Thr)	SERPING1 (M441T)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 3944	NG_009625.1:g.(13995_19163)_(19384_21774)del	SERPING1	Deletion	Hereditary angioedema type 1	GPathogenic

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Links from Gene

Items: 46