5054[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 59713	GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3	ACHE, ACTL6B +300 more	Copy number gain	See cases	GPathogenic
Select item 146501	GRCh38/hg38 7q22.1(chr7:99195836-102258175)x1	ACHE, ACTL6B +310 more	Copy number loss	See cases	GPathogenic
Select item 149050	GRCh38/hg38 7q22.1(chr7:99932610-102473188)x3	ACHE, ACTL6B +283 more	Copy number gain	See cases	GUncertain significance
Select item 60281	GRCh38/hg38 7q22.1(chr7:100419914-102482826)x1	ACHE, ACTL6B +207 more	Copy number loss	See cases	GPathogenic
Select item 13572	NM_000602.4(SERPINE1):c.-820_-817G(4_5)	SERPINE1	Duplication	Transcription level of plasminogen activator inhibitor 1	GPathogenic; other
Select item 627494	NM_000602.4(SERPINE1):c.0_-2+51del	SERPINE1	Deletion	Abnormal bleeding	GLikely pathogenic
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 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 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 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 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 13573	NM_000602.5(SERPINE1):c.43G>A (p.Ala15Thr)	SERPINE1 (A13T)	Single nucleotide variant (missense variant +1 more)	Congenital plasminogen activator inhibitor type 1 deficiency +2 more	GBenign/Likely benign
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 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 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 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 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 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 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 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 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 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 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 1244356	NM_000602.5(SERPINE1):c.272-243T>C	SERPINE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3379785	NM_000602.5(SERPINE1):c.339G>T (p.Glu113Asp)	SERPINE1 (E111D +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 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 1703794	NM_000602.5(SERPINE1):c.403C>T (p.His135Tyr)	SERPINE1 (H133Y +4 more)	Single nucleotide variant (missense variant)	Hemorrhage	GUncertain significance
Select item 147676	GRCh38/hg38 7q22.1(chr7:101130561-101255628)x3	AP1S1, CLDN15 +23 more	Copy number gain	See cases	GBenign
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 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 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 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 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 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 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 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 358311	NM_000602.5(SERPINE1):c.555G>C (p.Arg185=)	SERPINE1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 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 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 768189	NM_000602.5(SERPINE1):c.648C>T (p.Asp216=)	SERPINE1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 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 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 13571	NM_000602.5(SERPINE1):c.699_700del (p.Tyr233_Thr234insTer)	SERPINE1	Microsatellite (frameshift variant)	Congenital plasminogen activator inhibitor type 1 deficiency	GPathogenic
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 1228316	NM_000602.5(SERPINE1):c.701-241T>C	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 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 3317626	NM_000602.5(SERPINE1):c.732C>T (p.Tyr244=)	SERPINE1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 740992	NM_000602.5(SERPINE1):c.816C>A (p.Ala272=)	SERPINE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 1273479	NM_000602.5(SERPINE1):c.899+93T>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 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 3027120	NM_000602.5(SERPINE1):c.957C>T (p.Thr319=)	SERPINE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 1253721	NM_000602.5(SERPINE1):c.1088-106A>G	SERPINE1	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 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 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 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 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 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 910896	NM_000602.5(SERPINE1):c.*180C>T	SERPINE1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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

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