ClinVar for OMIM (Select 106100) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from OMIM

Items: 1 to 100 of 162

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2575091	NM_000062.3(SERPING1):c.1196C>G (p.Pro399Arg)	SERPING1 (P399R)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1	GPathogenic
Select item 1683559	NM_000062.3(SERPING1):c.346C>T (p.Gln116Ter)	SERPING1 (Q116*)	Single nucleotide variant (nonsense)	Hereditary angioedema type 1	GPathogenic
Select item 1675130	NM_000062.3(SERPING1):c.1450C>T (p.Gln484Ter)	SERPING1 (Q484*)	Single nucleotide variant (nonsense)	C1 inhibitor deficiency +1 more	GPathogenic
Select item 1675129	NM_000062.3(SERPING1):c.1147A>G (p.Met383Val)	SERPING1 (M383V)	Single nucleotide variant (missense variant)	C1 inhibitor deficiency +1 more	GUncertain significance
Select item 1379992	NM_000062.3(SERPING1):c.997G>A (p.Ala333Thr)	SERPING1 (A333T)	Single nucleotide variant (missense variant)	C1 inhibitor deficiency +2 more	GUncertain significance
Select item 1064580	NM_000062.3(SERPING1):c.890-14C>G	SERPING1	Single nucleotide variant (intron variant)	SERPING1-related condition +2 more	GLikely pathogenic
Select item 1032160	NM_000062.3(SERPING1):c.1324C>G (p.Gln442Glu)	SERPING1 (Q442E)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1	GUncertain significance
Select item 983260	NM_000062.3(SERPING1):c.1029+2111G>A	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1	GBenign
Select item 983259	NM_000062.3(SERPING1):c.1029+2110T>C	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1	GBenign
Select item 983258	NM_000062.3(SERPING1):c.1029+1497A>G	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1	GBenign
Select item 983257	NM_000062.3(SERPING1):c.1029+1443G>C	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1	GBenign
Select item 983256	NM_000062.3(SERPING1):c.1029+926G>T	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1	GBenign
Select item 983255	NM_000062.3(SERPING1):c.1029+851C>G	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1	GBenign
Select item 983254	NM_000062.3(SERPING1):c.1029+312T>C	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1 +1 more	GBenign
Select item 983253	NM_000062.3(SERPING1):c.1029+260G>A	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1	GBenign
Select item 983252	NM_000062.3(SERPING1):c.686-179A>G	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1	GLikely benign
Select item 983251	NM_000062.3(SERPING1):c.686-957A>G	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1	GBenign
Select item 983250	NM_000062.3(SERPING1):c.686-1333A>T	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1	GLikely benign
Select item 983249	NM_000062.3(SERPING1):c.686-1335T>A	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1	GLikely benign
Select item 983248	NM_000062.3(SERPING1):c.686-1488_686-1487insT	SERPING1	Insertion (intron variant)	Hereditary angioedema type 1	GLikely benign
Select item 983247	NM_000062.3(SERPING1):c.686-1565G>A	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1	GBenign
Select item 983246	NM_000062.3(SERPING1):c.686-1572G>T	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1	GBenign
Select item 983245	NM_000062.3(SERPING1):c.685+1100C>T	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1	GBenign
Select item 983244	NM_000062.3(SERPING1):c.1250-154C>G	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1	GBenign
Select item 983243	NM_000062.3(SERPING1):c.551-155A>G	SERPING1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 983242	NM_000062.3(SERPING1):c.551-156A>G	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1	GBenign
Select item 983241	NM_000062.3(SERPING1):c.551-495A>C	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1	GBenign
Select item 983240	NM_000062.3(SERPING1):c.551-500C>G	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1	GBenign
Select item 983239	NM_000062.3(SERPING1):c.52-130C>T	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1 +1 more	GBenign
Select item 983238	NM_000062.3(SERPING1):c.52-696C>T	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1	GBenign
Select item 983237	NM_000062.3(SERPING1):c.51+612GT[8]	SERPING1	Microsatellite (intron variant)	Hereditary angioedema type 1	GBenign
Select item 983236	NM_000062.3(SERPING1):c.1250-282T>C	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1 +1 more	GBenign
Select item 983235	NM_000062.3(SERPING1):c.1250-538T>C	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1	GBenign
Select item 983234	NM_000062.3(SERPING1):c.1030-865C>T	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1	GBenign
Select item 983233	NM_000062.3(SERPING1):c.1030-1198G>T	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1	GBenign
Select item 983232	NM_000062.3(SERPING1):c.1030-1222A>G	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1	GBenign
Select item 983231	NM_000062.3(SERPING1):c.1030-1513del	SERPING1	Deletion (intron variant)	Hereditary angioedema type 1	GBenign
Select item 983230	NM_000062.3(SERPING1):c.1030-1975G>C	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1	GBenign
Select item 983229	NM_000062.3(SERPING1):c.51+101G>A	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1 +1 more	GBenign
Select item 979219	NM_000062.3(SERPING1):c.1233_1234insTC (p.Ile412fs)	SERPING1 (I412fs)	Insertion (frameshift variant)	Hereditary angioedema type 1	GPathogenic
Select item 979218	NM_000062.3(SERPING1):c.985A>T (p.Lys329Ter)	SERPING1 (K329*)	Single nucleotide variant (nonsense)	Hereditary angioedema type 1	GPathogenic
Select item 979217	NM_000062.3(SERPING1):c.902del (p.Thr301fs)	SERPING1 (T301fs)	Deletion (frameshift variant)	Hereditary angioedema type 1	GPathogenic
Select item 979216	NM_000062.3(SERPING1):c.686-1G>A	SERPING1	Single nucleotide variant (splice acceptor variant)	Hereditary angioedema type 1	GPathogenic
Select item 979215	NM_000062.3(SERPING1):c.576_583dup (p.Ser195fs)	SERPING1 (S195fs)	Duplication (frameshift variant)	Hereditary angioedema type 1	GPathogenic
Select item 979214	NM_000062.3(SERPING1):c.314_317del (p.Pro105fs)	SERPING1 (P105fs)	Microsatellite (frameshift variant)	Hereditary angioedema type 1	GPathogenic
Select item 979213	NM_000062.3(SERPING1):c.195del (p.Leu65fs)	SERPING1 (L65fs)	Deletion (frameshift variant)	Hereditary angioedema type 1	GPathogenic
Select item 976258	NM_000062.3(SERPING1):c.1193T>C (p.Leu398Pro)	SERPING1 (L398P)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1	GLikely pathogenic
Select item 879935	NM_000062.3(SERPING1):c.721C>T (p.Arg241Trp)	SERPING1 (R241W)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1 +1 more	GUncertain significance
Select item 879934	NM_000062.3(SERPING1):c.497A>C (p.Asn166Thr)	SERPING1 (N166T)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1	GUncertain significance
Select item 879581	NM_000062.3(SERPING1):c.330A>G (p.Pro110=)	SERPING1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 879580	NM_000062.3(SERPING1):c.293C>T (p.Pro98Leu)	SERPING1 (P98L)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1	GUncertain significance
Select item 879579	NM_000062.3(SERPING1):c.244A>T (p.Thr82Ser)	SERPING1 (T82S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 879578	NM_000062.3(SERPING1):c.169G>A (p.Glu57Lys)	SERPING1 (E57K)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 878165	NM_000062.3(SERPING1):c.*66T>C	SERPING1	Single nucleotide variant (3 prime UTR variant)	Hereditary angioedema type 1	GUncertain significance
Select item 878120	NM_000062.3(SERPING1):c.142A>G (p.Thr48Ala)	SERPING1 (T48A)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1 +1 more	GBenign
Select item 877958	NM_000062.2(SERPING1):c.-94C>G	SERPING1	Single nucleotide variant	Hereditary angioedema type 1	GUncertain significance
Select item 877957	NM_000062.2(SERPING1):c.-100C>G	SERPING1	Single nucleotide variant	Hereditary angioedema type 1 +1 more	GConflicting classifications of pathogenicity
Select item 877135	NM_000062.3(SERPING1):c.1434C>T (p.Leu478=)	SERPING1	Single nucleotide variant (synonymous variant)	Hereditary angioedema type 1 +1 more	GLikely benign
Select item 877134	NM_000062.3(SERPING1):c.1409T>A (p.Val470Asp)	SERPING1 (V470D)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1	GUncertain significance
Select item 877133	NM_000062.3(SERPING1):c.1164G>A (p.Met388Ile)	SERPING1 (M388I)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1 +2 more	GConflicting classifications of pathogenicity
Select item 877132	NM_000062.3(SERPING1):c.1029+5G>T	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1 +1 more	GBenign
Select item 877131	NM_000062.3(SERPING1):c.981C>T (p.Ser327=)	SERPING1	Single nucleotide variant (synonymous variant)	Hereditary angioedema type 1 +1 more	GConflicting classifications of pathogenicity
Select item 877130	NM_000062.3(SERPING1):c.872A>G (p.Asn291Ser)	SERPING1 (N291S)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1	GUncertain significance
Select item 877129	NM_000062.3(SERPING1):c.856C>G (p.Arg286Gly)	SERPING1 (R286G)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1	GUncertain significance
Select item 870445	NM_000062.3(SERPING1):c.1029+384A>G	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1	GPathogenic
Select item 870444	NM_000062.3(SERPING1):c.-22-155G>T	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1	GPathogenic
Select item 830237	NM_000062.3(SERPING1):c.9del (p.Arg4fs)	SERPING1 (R4fs)	Deletion (frameshift variant)	Hereditary angioedema type 1	GLikely pathogenic
Select item 695507	NM_000062.3(SERPING1):c.550+9C>G	SERPING1	Single nucleotide variant (intron variant)	SERPING1-related condition +2 more	GLikely benign
Select item 694737	NM_000062.3(SERPING1):c.124G>T (p.Glu42Ter)	SERPING1 (E42*)	Single nucleotide variant (nonsense)	Hereditary angioedema type 1	GPathogenic
Select item 692101	NM_000062.3(SERPING1):c.1104del (p.Asp369fs)	SERPING1 (D369fs)	Deletion (frameshift variant)	Hereditary angioedema type 1	GLikely pathogenic
Select item 690358	NM_000062.3(SERPING1):c.1038_1052del (p.Gln346_Ser350del)	SERPING1	Deletion (inframe_deletion)	Hereditary angioedema type 1	GLikely pathogenic
Select item 690357	NM_000062.3(SERPING1):c.1373C>T (p.Ala458Val)	SERPING1 (A458V)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1	GPathogenic
Select item 690356	NM_000062.3(SERPING1):c.1180del (p.Thr394fs)	SERPING1 (T394fs)	Deletion (frameshift variant)	Hereditary angioedema type 1	GPathogenic
Select item 690355	NM_000062.3(SERPING1):c.1417G>A (p.Val473Met)	SERPING1 (V473M)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1 +1 more	GPathogenic
Select item 690354	NM_000062.3(SERPING1):c.508del (p.Ser170fs)	SERPING1 (S170fs)	Deletion (frameshift variant)	Hereditary angioedema type 1	GPathogenic
Select item 690353	NM_000062.3(SERPING1):c.347del (p.Gln116fs)	SERPING1 (Q116fs)	Deletion (frameshift variant)	Hereditary angioedema type 1	GPathogenic
Select item 690352	NM_000062.3(SERPING1):c.239C>G (p.Ala80Gly)	SERPING1 (A80G)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1	GUncertain significance
Select item 690351	NM_000062.3(SERPING1):c.1446G>A (p.Trp482Ter)	SERPING1 (W482*)	Single nucleotide variant (nonsense)	Hereditary angioedema type 1	GPathogenic
Select item 690350	NM_000062.3(SERPING1):c.600dup (p.Lys201fs)	SERPING1 (K201fs)	Duplication (frameshift variant)	Hereditary angioedema type 1	GPathogenic
Select item 690349	NM_000062.3(SERPING1):c.1342_1349dup (p.Thr450_Glu451insAsnTer)	SERPING1	Duplication (nonsense +1 more)	Hereditary angioedema type 1	GPathogenic
Select item 690348	NM_000062.3(SERPING1):c.1036C>T (p.Gln346Ter)	SERPING1 (Q346*)	Single nucleotide variant (nonsense)	Hereditary angioedema type 1	GPathogenic
Select item 690347	NM_000062.3(SERPING1):c.908T>C (p.Phe303Ser)	SERPING1 (F303S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 690346	NM_000062.3(SERPING1):c.878T>C (p.Ile293Thr)	SERPING1 (I293T)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1	GLikely pathogenic
Select item 633776	NM_000062.3(SERPING1):c.491_502del (p.Glu164_Met167del)	SERPING1	Deletion (inframe_deletion)	Hereditary angioedema type 1	GLikely pathogenic
Select item 626356	NM_000062.3(SERPING1):c.586_589del (p.Ile196fs)	SERPING1 (I196fs)	Deletion (frameshift variant)	Hereditary angioedema type 1	GPathogenic
Select item 626355	NM_000062.3(SERPING1):c.1106del (p.Asp369fs)	SERPING1 (D369fs)	Deletion (frameshift variant)	Hereditary angioedema type 1	GPathogenic
Select item 626354	NM_000062.3(SERPING1):c.1420C>T (p.Gln474Ter)	SERPING1 (Q474*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 626353	NM_000062.3(SERPING1):c.1A>C (p.Met1Leu)	SERPING1 (M1L)	Single nucleotide variant (missense variant +1 more)	Hereditary angioedema type 1	GPathogenic
Select item 626352	NM_000062.3(SERPING1):c.1A>G (p.Met1Val)	SERPING1 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 626351	NM_000062.3(SERPING1):c.342_345del (p.Thr115fs)	SERPING1 (T115fs)	Deletion (frameshift variant)	Hereditary angioedema type 1	GPathogenic
Select item 626350	NM_000062.3(SERPING1):c.674_675delinsAA (p.Phe225Ter)	SERPING1 (F225*)	Indel (nonsense)	Hereditary angioedema type 1	GPathogenic
Select item 626349	NM_000062.3(SERPING1):c.106_107del (p.Ser36fs)	SERPING1 (S36fs)	Microsatellite (frameshift variant)	Hereditary angioedema type 1	GPathogenic
Select item 626348	NM_000062.3(SERPING1):c.1012C>T (p.Gln338Ter)	SERPING1 (Q338*)	Single nucleotide variant (nonsense)	Hereditary angioedema type 1	GPathogenic
Select item 626347	NM_000062.3(SERPING1):c.1480C>T (p.Arg494Ter)	SERPING1 (R494*)	Single nucleotide variant (nonsense)	SERPING1-related condition +2 more	GPathogenic
Select item 619176	NM_000062.3(SERPING1):c.1247T>A (p.Leu416Ter)	SERPING1 (L416*)	Single nucleotide variant (nonsense)	Hereditary angioedema type 1	GPathogenic
Select item 619175	NM_000062.3(SERPING1):c.55A>T (p.Arg19Ter)	SERPING1 (R19*)	Single nucleotide variant (nonsense)	Hereditary angioedema type 1	GPathogenic
Select item 590291	NM_000301.5(PLG):c.988A>G (p.Lys330Glu)	PLG (K330E)	Single nucleotide variant (missense variant)	Angioedema, hereditary, 4 +2 more	GPathogenic
Select item 559595	NM_000062.3(SERPING1):c.615dup (p.Val206fs)	SERPING1 (V206fs)	Duplication (frameshift variant)	Hereditary angioedema type 1	GPathogenic
Select item 503707	NM_000062.3(SERPING1):c.1353_1354del (p.Glu451fs)	SERPING1 (E451fs)	Microsatellite (frameshift variant)	Hereditary angioedema type 1 +1 more	GPathogenic/Likely pathogenic
Select item 487526	NM_000062.3(SERPING1):c.646delinsTCAGTGTCGTG (p.Lys216delinsSerValSerTer)	SERPING1	Indel (nonsense)	Hereditary angioedema type 1	GPathogenic

<< First< Prev

Page of 2