ClinVar for Gene (Select 5054) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3317627	NM_000602.5(SERPINE1):c.1129A>G (p.Met377Val)	SERPINE1 (M377V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317626	NM_000602.5(SERPINE1):c.732C>T (p.Tyr244=)	SERPINE1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3317623	NM_000602.5(SERPINE1):c.554G>A (p.Arg185Gln)	SERPINE1 (R101Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317622	NM_000602.5(SERPINE1):c.1157G>A (p.Arg386Gln)	SERPINE1 (G341S +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317621	NM_000602.5(SERPINE1):c.616A>G (p.Ser206Gly)	SERPINE1 (S122G +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3317620	NM_000602.5(SERPINE1):c.586G>A (p.Gly196Ser)	SERPINE1 (G112S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3257412	NM_000602.5(SERPINE1):c.1114C>G (p.Pro372Ala)	SERPINE1 (P288A +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3245893	NC_000007.13:g.(?_94024344)_(100860555_?)del	ACHE, ACTL6B +106 more	Deletion	not provided	GPathogenic
Select item 3160469	NM_000602.5(SERPINE1):c.217A>G (p.Thr73Ala)	SERPINE1 (T6A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062972	GRCh37/hg19 7q22.1(chr7:98396469-102108193)x1	ACHE, ACTL6B +93 more	Copy number loss	not specified	GLikely pathogenic
Select item 3062968	GRCh37/hg19 7q22.1(chr7:100454649-101886704)x1	ACHE, AP1S1 +20 more	Copy number loss	not specified	GPathogenic
Select item 3046476	NM_000602.5(SERPINE1):c.114C>T (p.Phe38=)	SERPINE1	Single nucleotide variant (synonymous variant +1 more)	SERPINE1-related disorder	GLikely benign
Select item 3039903	NM_000602.5(SERPINE1):c.695A>G (p.Asn232Ser)	SERPINE1 (N148S +4 more)	Single nucleotide variant (missense variant)	SERPINE1-related disorder	GLikely benign
Select item 3027120	NM_000602.5(SERPINE1):c.957C>T (p.Thr319=)	SERPINE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2685254	GRCh37/hg19 7q22.1(chr7:99114000-101878272)x1	CYP3A4, CYP3A43 +73 more	Copy number loss	not provided	GPathogenic
Select item 2684496	GRCh37/hg19 7q22.1(chr7:100532371-101116321)x3	AP1S1, CLDN15 +13 more	Copy number gain	not provided	GUncertain significance
Select item 2614390	NM_000602.5(SERPINE1):c.247G>A (p.Ala83Thr)	SERPINE1 (A81T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607723	NM_000602.5(SERPINE1):c.1160A>T (p.His387Leu)	SERPINE1 (H387L +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590054	NM_000602.5(SERPINE1):c.497A>T (p.His166Leu)	SERPINE1 (H166L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2572165	NM_000602.5(SERPINE1):c.421C>T (p.Arg141Trp)	SERPINE1 (R139W +4 more)	Single nucleotide variant (missense variant)	Thrombus	GUncertain significance
Select item 2520193	NM_000602.5(SERPINE1):c.157C>T (p.Arg53Cys)	SERPINE1 (R53C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2509698	NM_000602.5(SERPINE1):c.650G>A (p.Gly217Asp)	SERPINE1 (G150D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483658	NM_000602.5(SERPINE1):c.376C>A (p.Leu126Met)	SERPINE1 (L134M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464736	NM_000602.5(SERPINE1):c.399G>A (p.Met133Ile)	SERPINE1 (M131I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424700	NC_000007.13:g.(?_98507659)_(100860555_?)dup	ACHE, ACTL6B +79 more	Duplication	not provided	GUncertain significance
Select item 2279527	NM_000602.5(SERPINE1):c.253A>G (p.Met85Val)	SERPINE1 (M18V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239033	NM_000602.5(SERPINE1):c.509T>C (p.Met170Thr)	SERPINE1 (M168T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1710298	NM_000602.5(SERPINE1):c.1172-3C>G	SERPINE1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	Gnot provided
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703795	NM_000602.5(SERPINE1):c.1172-2A>C	SERPINE1	Single nucleotide variant (3 prime UTR variant +2 more)	Gastrointestinal hemorrhage +1 more	GUncertain significance
Select item 1703794	NM_000602.5(SERPINE1):c.403C>T (p.His135Tyr)	SERPINE1 (H133Y +4 more)	Single nucleotide variant (missense variant)	Hemorrhage	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1684474	NM_000602.5(SERPINE1):c.79C>A (p.Pro27Thr)	SERPINE1 (P25T +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital plasminogen activator inhibitor type 1 deficiency	GUncertain significance
Select item 1527380	GRCh37/hg19 7q22.1-31.31(chr7:100676872-119156160)	ALKBH4, ANKRD7 +95 more	Copy number loss	not specified	GPathogenic
Select item 1527379	GRCh37/hg19 7q22.1-31.1(chr7:99417471-111586308)	ACHE, ACTL6B +123 more	Copy number loss	not specified	GPathogenic
Select item 1373858	NC_000007.13:g.(?_98983338)_(100860555_?)del	ACHE, ACTL6B +75 more	Deletion	not provided	GUncertain significance
Select item 1299082	NM_000602.5(SERPINE1):c.149C>T (p.Ser50Phe)	SERPINE1 (S48F +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1273479	NM_000602.5(SERPINE1):c.899+93T>C	SERPINE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269339	NM_000602.5(SERPINE1):c.506-301A>G	SERPINE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266230	NM_000602.5(SERPINE1):c.506-286A>C	SERPINE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253721	NM_000602.5(SERPINE1):c.1088-106A>G	SERPINE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246591	NM_000602.5(SERPINE1):c.701-45G>A	SERPINE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244356	NM_000602.5(SERPINE1):c.272-243T>C	SERPINE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234277	NM_000602.5(SERPINE1):c.900-233_900-222del	SERPINE1	Deletion (intron variant)	not provided	GBenign
Select item 1228316	NM_000602.5(SERPINE1):c.701-241T>C	SERPINE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1123294	NM_000602.5(SERPINE1):c.74A>C (p.His25Pro)	SERPINE1 (H23P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1031641	NM_000602.5(SERPINE1):c.719A>G (p.Asp240Gly)	SERPINE1 (D156G +4 more)	Single nucleotide variant (missense variant)	Congenital plasminogen activator inhibitor type 1 deficiency	GUncertain significance
Select item 979637	GRCh37/hg19 7q22.1(chr7:100685746-100789623)x1	MUC17, SERPINE1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 929826	GRCh37/hg19 7q22.1(chr7:99593346-102470275)x1	ACHE, ACTL6B +77 more	Copy number loss	See cases	GLikely pathogenic
Select item 912192	NM_000602.5(SERPINE1):c.*1787T>C	SERPINE1	Single nucleotide variant (3 prime UTR variant)	Congenital plasminogen activator inhibitor type 1 deficiency	GLikely benign
Select item 912191	NM_000602.5(SERPINE1):c.*1545T>C	SERPINE1	Single nucleotide variant (3 prime UTR variant)	Congenital plasminogen activator inhibitor type 1 deficiency	GUncertain significance
Select item 912190	NM_000602.5(SERPINE1):c.*1521T>A	SERPINE1	Single nucleotide variant (3 prime UTR variant)	Congenital plasminogen activator inhibitor type 1 deficiency	GLikely benign
Select item 912130	NM_000602.5(SERPINE1):c.*617T>A	SERPINE1	Single nucleotide variant (3 prime UTR variant)	Congenital plasminogen activator inhibitor type 1 deficiency +1 more	GUncertain significance
Select item 912129	NM_000602.5(SERPINE1):c.*585G>T	SERPINE1	Single nucleotide variant (3 prime UTR variant)	Congenital plasminogen activator inhibitor type 1 deficiency	GUncertain significance
Select item 912128	NM_000602.5(SERPINE1):c.*533C>T	SERPINE1	Single nucleotide variant (3 prime UTR variant)	Congenital plasminogen activator inhibitor type 1 deficiency	GUncertain significance
Select item 912127	NM_000602.5(SERPINE1):c.*478A>C	SERPINE1	Single nucleotide variant (3 prime UTR variant)	Congenital plasminogen activator inhibitor type 1 deficiency	GUncertain significance
Select item 912126	NM_000602.5(SERPINE1):c.*456G>C	SERPINE1	Single nucleotide variant (3 prime UTR variant)	Congenital plasminogen activator inhibitor type 1 deficiency	GUncertain significance
Select item 912125	NM_000602.5(SERPINE1):c.*456G>A	SERPINE1	Single nucleotide variant (3 prime UTR variant)	Congenital plasminogen activator inhibitor type 1 deficiency	GUncertain significance
Select item 912124	NM_000602.5(SERPINE1):c.*455C>T	SERPINE1	Single nucleotide variant (3 prime UTR variant)	Congenital plasminogen activator inhibitor type 1 deficiency	GUncertain significance
Select item 912123	NM_000602.5(SERPINE1):c.*440T>C	SERPINE1	Single nucleotide variant (3 prime UTR variant)	Congenital plasminogen activator inhibitor type 1 deficiency	GLikely benign
Select item 912064	NM_000602.5(SERPINE1):c.149C>G (p.Ser50Cys)	SERPINE1 (S50C)	Single nucleotide variant (missense variant)	Congenital plasminogen activator inhibitor type 1 deficiency	GUncertain significance
Select item 912063	NM_000602.5(SERPINE1):c.-20G>C	SERPINE1	Single nucleotide variant (5 prime UTR variant)	Congenital plasminogen activator inhibitor type 1 deficiency	GUncertain significance
Select item 912062	NM_000602.5(SERPINE1):c.-109G>A	SERPINE1	Single nucleotide variant (5 prime UTR variant)	Congenital plasminogen activator inhibitor type 1 deficiency	GUncertain significance
Select item 910965	NM_000602.5(SERPINE1):c.*1449C>T	SERPINE1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 910964	NM_000602.5(SERPINE1):c.*1437C>A	SERPINE1	Single nucleotide variant (3 prime UTR variant)	Congenital plasminogen activator inhibitor type 1 deficiency	GUncertain significance
Select item 910963	NM_000602.5(SERPINE1):c.*1296G>A	SERPINE1	Single nucleotide variant (3 prime UTR variant)	Congenital plasminogen activator inhibitor type 1 deficiency	GUncertain significance
Select item 910900	NM_000602.5(SERPINE1):c.*425T>C	SERPINE1	Single nucleotide variant (3 prime UTR variant)	Congenital plasminogen activator inhibitor type 1 deficiency	GUncertain significance
Select item 910899	NM_000602.5(SERPINE1):c.*294T>G	SERPINE1	Single nucleotide variant (3 prime UTR variant)	Congenital plasminogen activator inhibitor type 1 deficiency	GUncertain significance
Select item 910898	NM_000602.5(SERPINE1):c.*275C>T	SERPINE1	Single nucleotide variant (3 prime UTR variant)	Congenital plasminogen activator inhibitor type 1 deficiency	GUncertain significance
Select item 910897	NM_000602.5(SERPINE1):c.*236C>T	SERPINE1	Single nucleotide variant (3 prime UTR variant)	Congenital plasminogen activator inhibitor type 1 deficiency	GUncertain significance
Select item 910896	NM_000602.5(SERPINE1):c.*180C>T	SERPINE1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 910011	NM_000602.5(SERPINE1):c.1088-11T>C	SERPINE1	Single nucleotide variant (intron variant)	Congenital plasminogen activator inhibitor type 1 deficiency	GUncertain significance
Select item 910010	NM_000602.5(SERPINE1):c.995T>C (p.Leu332Pro)	SERPINE1 (L332P)	Single nucleotide variant (missense variant)	Congenital plasminogen activator inhibitor type 1 deficiency	GUncertain significance
Select item 910009	NM_000602.5(SERPINE1):c.989C>T (p.Thr330Met)	SERPINE1 (T330M)	Single nucleotide variant (missense variant)	Congenital plasminogen activator inhibitor type 1 deficiency	GUncertain significance
Select item 910008	NM_000602.5(SERPINE1):c.934C>T (p.Pro312Ser)	SERPINE1 (P312S)	Single nucleotide variant (missense variant)	Congenital plasminogen activator inhibitor type 1 deficiency	GUncertain significance
Select item 910007	NM_000602.5(SERPINE1):c.899+12C>T	SERPINE1	Single nucleotide variant (intron variant)	Congenital plasminogen activator inhibitor type 1 deficiency	GBenign
Select item 910006	NM_000602.5(SERPINE1):c.801G>A (p.Glu267=)	SERPINE1	Single nucleotide variant (synonymous variant)	Congenital plasminogen activator inhibitor type 1 deficiency	GUncertain significance
Select item 908117	NM_000602.5(SERPINE1):c.*863C>T	SERPINE1	Single nucleotide variant (3 prime UTR variant)	Congenital plasminogen activator inhibitor type 1 deficiency	GUncertain significance
Select item 908116	NM_000602.5(SERPINE1):c.*685C>T	SERPINE1	Single nucleotide variant (3 prime UTR variant)	Congenital plasminogen activator inhibitor type 1 deficiency +1 more	GBenign
Select item 908115	NM_000602.5(SERPINE1):c.*684T>C	SERPINE1	Single nucleotide variant (3 prime UTR variant)	Congenital plasminogen activator inhibitor type 1 deficiency	GUncertain significance
Select item 908114	NM_000602.5(SERPINE1):c.*661T>C	SERPINE1	Single nucleotide variant (3 prime UTR variant)	Congenital plasminogen activator inhibitor type 1 deficiency	GLikely benign
Select item 908055	NM_000602.5(SERPINE1):c.700+10A>G	SERPINE1	Single nucleotide variant (intron variant)	Congenital plasminogen activator inhibitor type 1 deficiency	GUncertain significance
Select item 908054	NM_000602.5(SERPINE1):c.626G>A (p.Arg209His)	SERPINE1 (R209H)	Single nucleotide variant (missense variant)	Congenital plasminogen activator inhibitor type 1 deficiency	GUncertain significance
Select item 810154	NM_000602.5(SERPINE1):c.469T>C (p.Phe157Leu)	SERPINE1 (F157L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 771414	NM_000602.5(SERPINE1):c.1088-9C>T	SERPINE1	Single nucleotide variant (intron variant)	Congenital plasminogen activator inhibitor type 1 deficiency +1 more	GBenign/Likely benign
Select item 768189	NM_000602.5(SERPINE1):c.648C>T (p.Asp216=)	SERPINE1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 740992	NM_000602.5(SERPINE1):c.816C>A (p.Ala272=)	SERPINE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 717078	NM_000602.5(SERPINE1):c.357G>A (p.Ala119=)	SERPINE1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 627494	NM_000602.4(SERPINE1):c.0_-2+51del	SERPINE1	Deletion	Abnormal bleeding	GLikely pathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563415	GRCh37/hg19 7q22.1(chr7:98847725-102472176)x1	CYP3A43, GJC3 +99 more	Copy number loss	not provided	GPathogenic
Select item 560088	Single allele	VGF, TRIM56 +5 more	Duplication	Congenital plasminogen activator inhibitor type 1 deficiency	GUncertain significance
Select item 487667	NM_000602.5(SERPINE1):c.699_700dup (p.Thr234fs)	SERPINE1 (T234fs +4 more)	Microsatellite (frameshift variant)	Congenital plasminogen activator inhibitor type 1 deficiency	Gnot provided
Select item 487666	NM_000602.5(SERPINE1):c.356dup (p.Ile120fs)	SERPINE1 (I120fs +4 more)	Duplication (frameshift variant)	Congenital plasminogen activator inhibitor type 1 deficiency	Gnot provided
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 358339	NM_000602.5(SERPINE1):c.*1784del	SERPINE1	Deletion (3 prime UTR variant)	Congenital plasminogen activator inhibitor type 1 deficiency	GUncertain significance
Select item 358338	NM_000602.5(SERPINE1):c.*1737G>A	SERPINE1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign

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