ClinVar for OMIM (Select 613329) - ClinVar

Links from OMIM

Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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
Select item 358337	NM_000602.5(SERPINE1):c.*1668G>C	SERPINE1	Single nucleotide variant (3 prime UTR variant)	Congenital plasminogen activator inhibitor type 1 deficiency	GUncertain significance
Select item 358336	NM_000602.5(SERPINE1):c.*1590A>G	SERPINE1	Single nucleotide variant (3 prime UTR variant)	Congenital plasminogen activator inhibitor type 1 deficiency	GUncertain significance
Select item 358335	NM_000602.5(SERPINE1):c.*1443C>A	SERPINE1	Single nucleotide variant (3 prime UTR variant)	Congenital plasminogen activator inhibitor type 1 deficiency	GUncertain significance
Select item 358334	NM_000602.5(SERPINE1):c.*1388G>A	SERPINE1	Single nucleotide variant (3 prime UTR variant)	Congenital plasminogen activator inhibitor type 1 deficiency	GUncertain significance
Select item 358333	NM_000602.5(SERPINE1):c.*1358T>C	SERPINE1	Single nucleotide variant (3 prime UTR variant)	Congenital plasminogen activator inhibitor type 1 deficiency	GBenign
Select item 358332	NM_000602.5(SERPINE1):c.*1295C>T	SERPINE1	Single nucleotide variant (3 prime UTR variant)	Congenital plasminogen activator inhibitor type 1 deficiency	GUncertain significance
Select item 358331	NM_000602.5(SERPINE1):c.*1266G>C	SERPINE1	Single nucleotide variant (3 prime UTR variant)	Congenital plasminogen activator inhibitor type 1 deficiency	GUncertain significance
Select item 358330	NM_000602.5(SERPINE1):c.*1192G>C	SERPINE1	Single nucleotide variant (3 prime UTR variant)	Congenital plasminogen activator inhibitor type 1 deficiency	GUncertain significance
Select item 358329	NM_000602.5(SERPINE1):c.*1186C>T	SERPINE1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 358328	NM_000602.5(SERPINE1):c.*1155T>C	SERPINE1	Single nucleotide variant (3 prime UTR variant)	Congenital plasminogen activator inhibitor type 1 deficiency	GUncertain significance
Select item 358327	NM_000602.5(SERPINE1):c.*1147G>C	SERPINE1	Single nucleotide variant (3 prime UTR variant)	Congenital plasminogen activator inhibitor type 1 deficiency	GUncertain significance
Select item 358326	NM_000602.5(SERPINE1):c.*1006T>C	SERPINE1	Single nucleotide variant (3 prime UTR variant)	Congenital plasminogen activator inhibitor type 1 deficiency	GUncertain significance
Select item 358325	NM_000602.5(SERPINE1):c.997_1005dup	SERPINE1	Duplication (3 prime UTR variant)	Congenital plasminogen activator inhibitor type 1 deficiency	GBenign
Select item 358324	NM_000602.5(SERPINE1):c.*950C>T	SERPINE1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 358323	NM_000602.5(SERPINE1):c.*892G>A	SERPINE1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 358322	NM_000602.5(SERPINE1):c.*891C>T	SERPINE1	Single nucleotide variant (3 prime UTR variant)	Congenital plasminogen activator inhibitor type 1 deficiency	GUncertain significance
Select item 358321	NM_000602.5(SERPINE1):c.*859C>T	SERPINE1	Single nucleotide variant (3 prime UTR variant)	Congenital plasminogen activator inhibitor type 1 deficiency	GUncertain significance
Select item 358320	NM_000602.5(SERPINE1):c.*752C>A	SERPINE1	Single nucleotide variant (3 prime UTR variant)	Congenital plasminogen activator inhibitor type 1 deficiency	GBenign
Select item 358319	NM_000602.5(SERPINE1):c.*722T>G	SERPINE1	Single nucleotide variant (3 prime UTR variant)	Congenital plasminogen activator inhibitor type 1 deficiency +1 more	GBenign
Select item 358318	NM_000602.5(SERPINE1):c.*690T>C	SERPINE1	Single nucleotide variant (3 prime UTR variant)	Congenital plasminogen activator inhibitor type 1 deficiency +1 more	GBenign
Select item 358317	NM_000602.5(SERPINE1):c.*508C>A	SERPINE1	Single nucleotide variant (3 prime UTR variant +2 more)	Congenital plasminogen activator inhibitor type 1 deficiency	GUncertain significance
Select item 358316	NM_000602.5(SERPINE1):c.*361T>C	SERPINE1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GBenign
Select item 358315	NM_000602.5(SERPINE1):c.*207C>T	SERPINE1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital plasminogen activator inhibitor type 1 deficiency	GUncertain significance
Select item 358314	NM_000602.5(SERPINE1):c.1020C>T (p.Val340=)	SERPINE1	Single nucleotide variant (synonymous variant +1 more)	Congenital plasminogen activator inhibitor type 1 deficiency	GUncertain significance
Select item 358313	NM_000602.5(SERPINE1):c.845T>G (p.Ile282Ser)	SERPINE1 (I282S +4 more)	Single nucleotide variant (missense variant)	Congenital plasminogen activator inhibitor type 1 deficiency	GUncertain significance
Select item 358312	NM_000602.5(SERPINE1):c.649G>A (p.Gly217Ser)	SERPINE1 (G217S +4 more)	Single nucleotide variant (missense variant)	Congenital plasminogen activator inhibitor type 1 deficiency	GUncertain significance
Select item 358311	NM_000602.5(SERPINE1):c.555G>C (p.Arg185=)	SERPINE1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 358310	NM_000602.5(SERPINE1):c.537C>T (p.Ala179=)	SERPINE1	Single nucleotide variant (synonymous variant)	Congenital plasminogen activator inhibitor type 1 deficiency	GUncertain significance
Select item 358309	NM_000602.5(SERPINE1):c.456G>C (p.Val152=)	SERPINE1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 358308	NM_000602.5(SERPINE1):c.191C>T (p.Ser64Leu)	SERPINE1 (S64L +1 more)	Single nucleotide variant (missense variant +2 more)	Congenital plasminogen activator inhibitor type 1 deficiency	GUncertain significance
Select item 358307	NM_000602.5(SERPINE1):c.49G>A (p.Val17Ile)	SERPINE1 (V17I +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital plasminogen activator inhibitor type 1 deficiency +1 more	GBenign
Select item 358306	NM_000602.5(SERPINE1):c.-54C>T	SERPINE1	Single nucleotide variant (5 prime UTR variant)	Congenital plasminogen activator inhibitor type 1 deficiency	GUncertain significance
Select item 358305	NM_000602.5(SERPINE1):c.-93C>T	SERPINE1	Single nucleotide variant (5 prime UTR variant)	Congenital plasminogen activator inhibitor type 1 deficiency	GUncertain significance
Select item 358304	NM_000602.5(SERPINE1):c.-101G>A	SERPINE1	Single nucleotide variant (5 prime UTR variant)	Congenital plasminogen activator inhibitor type 1 deficiency	GUncertain significance
Select item 13573	NM_000602.5(SERPINE1):c.43G>A (p.Ala15Thr)	SERPINE1 (A13T)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 13571	NM_000602.5(SERPINE1):c.699_700del (p.Tyr233_Thr234insTer)	SERPINE1	Microsatellite (frameshift variant)	Congenital plasminogen activator inhibitor type 1 deficiency	GPathogenic

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Items: 79