ClinVar for MedGen (Select 369859) - ClinVar

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Items: 53

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 16939401.	NM_000301.5(PLG):c.1394C>T (p.Pro465Leu) GRCh37: Chr6:161152220 GRCh38: Chr6:160731188	PLG	P465L	not provided, Plasminogen deficiency, type I, Angioedema, hereditary, 4	Uncertain significance (Oct 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16939392.	NM_000301.5(PLG):c.814A>G (p.Thr272Ala) GRCh37: Chr6:161139352 GRCh38: Chr6:160718320	PLG	T272A	not provided, Plasminogen deficiency, type I, Angioedema, hereditary, 4	Uncertain significance (Dec 18, 2021)	criteria provided, multiple submitters, no conflicts
Select item 16939383.	NM_000301.5(PLG):c.745G>A (p.Asp249Asn) GRCh37: Chr6:161137753 GRCh38: Chr6:160716721	PLG	D249N	not provided, Plasminogen deficiency, type I, Angioedema, hereditary, 4	Uncertain significance (Mar 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16939374.	NM_000301.5(PLG):c.17T>C (p.Val6Ala) GRCh37: Chr6:161123353 GRCh38: Chr6:160702321	PLG	V6A	not provided, Inborn genetic diseases, Plasminogen deficiency, type I, Angioedema, hereditary, 4	Uncertain significance (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16843515.	NM_000301.5(PLG):c.86A>C (p.Gln29Pro) GRCh37: Chr6:161127475 GRCh38: Chr6:160706443	PLG	Q29P	not provided	Uncertain significance (Oct 14, 2022)	criteria provided, single submitter
Select item 15855926.	NM_000301.5(PLG):c.1803-17C>A GRCh37: Chr6:161159553 GRCh38: Chr6:160738521	LOC126859861, PLG		not provided, Angioedema, hereditary, 4, Plasminogen deficiency, type I	Benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14367227.	NM_000301.5(PLG):c.669-3C>G GRCh37: Chr6:161137674 GRCh38: Chr6:160716642	PLG		Angioedema, hereditary, 4, Plasminogen deficiency, type I, not provided	Uncertain significance (Jun 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14346968.	NM_000301.5(PLG):c.505C>A (p.Pro169Thr) GRCh37: Chr6:161134115 GRCh38: Chr6:160713083	PLG	P169T	Plasminogen deficiency, type I, Angioedema, hereditary, 4, not provided	Uncertain significance (Apr 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13655919.	NM_000301.5(PLG):c.1329C>A (p.Ser443Arg) GRCh37: Chr6:161152155 GRCh38: Chr6:160731123	PLG	S443R	not provided, Angioedema, hereditary, 4, Plasminogen deficiency, type I	Uncertain significance (May 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134611810.	NM_000301.5(PLG):c.317G>C (p.Gly106Ala) GRCh37: Chr6:161132133 GRCh38: Chr6:160711101	PLG	G106A	Angioedema, hereditary, 4, Plasminogen deficiency, type I, Inborn genetic diseases, not provided	Uncertain significance (Sep 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133974211.	NM_000301.5(PLG):c.848A>G (p.Tyr283Cys) GRCh37: Chr6:161139386 GRCh38: Chr6:160718354	PLG	Y283C	not specified, Plasminogen deficiency, type I, Angioedema, hereditary, 4	Uncertain significance (May 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 126388412.	NM_000301.5(PLG):c.1878-17G>A GRCh37: Chr6:161160083 GRCh38: Chr6:160739051	PLG		Plasminogen deficiency, type I, Angioedema, hereditary, 4, not provided	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 124750613.	NM_000301.5(PLG):c.*45A>G GRCh37: Chr6:161174138 GRCh38: Chr6:160753106	PLG		Angioedema, hereditary, 4, not provided, Plasminogen deficiency, type I	Benign (Oct 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 124278714.	NM_000301.5(PLG):c.330C>T (p.Asn110=) GRCh37: Chr6:161132146 GRCh38: Chr6:160711114	PLG		Plasminogen deficiency, type I, Angioedema, hereditary, 4, not provided	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 124159615.	NM_000301.5(PLG):c.2286T>G (p.Gly762=) GRCh37: Chr6:161173946 GRCh38: Chr6:160752914	PLG		Plasminogen deficiency, type I, Angioedema, hereditary, 4, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 117909616.	NM_000301.5(PLG):c.2019-1G>A GRCh37: Chr6:161162342 GRCh38: Chr6:160741310	PLG		Plasminogen deficiency, type I	Likely pathogenic (Jun 30, 2021)	criteria provided, single submitter
Select item 117511617.	NM_000301.5(PLG):c.771T>C (p.Cys257=) GRCh37: Chr6:161137779 GRCh38: Chr6:160716747	PLG		Plasminogen deficiency, type I, Angioedema, hereditary, 4, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 117479718.	NM_000301.5(PLG):c.942C>T (p.Phe314=) GRCh37: Chr6:161139480 GRCh38: Chr6:160718448	PLG		Plasminogen deficiency, type I, Angioedema, hereditary, 4, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 117464219.	NM_000301.5(PLG):c.950+14G>A GRCh37: Chr6:161139502 GRCh38: Chr6:160718470	PLG		not provided, Plasminogen deficiency, type I, Angioedema, hereditary, 4	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116346320.	NM_000301.5(PLG):c.1997T>C (p.Ile666Thr) GRCh37: Chr6:161160219 GRCh38: Chr6:160739187	PLG	I666T	not provided, Plasminogen deficiency, type I, Angioedema, hereditary, 4	Uncertain significance (Jan 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116300221.	NM_000301.5(PLG):c.514A>G (p.Arg172Gly) GRCh37: Chr6:161134124 GRCh38: Chr6:160713092	PLG	R172G	not provided, Plasminogen deficiency, type I, Angioedema, hereditary, 4	Uncertain significance (Sep 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116300022.	NM_000301.5(PLG):c.368C>T (p.Thr123Ile) GRCh37: Chr6:161132184 GRCh38: Chr6:160711152	PLG	T123I	not provided, Angioedema, hereditary, 4, Plasminogen deficiency, type I	Uncertain significance (Apr 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116299723.	NM_000301.5(PLG):c.115A>C (p.Lys39Gln) GRCh37: Chr6:161127504 GRCh38: Chr6:160706472	PLG	K39Q	not provided, Angioedema, hereditary, 4, Plasminogen deficiency, type I	Uncertain significance (Sep 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 105057124.	NM_000301.5(PLG):c.185+14C>A GRCh37: Chr6:161127588 GRCh38: Chr6:160706556	PLG		not provided, Plasminogen deficiency, type I, Angioedema, hereditary, 4	Conflicting interpretations of pathogenicity (Aug 6, 2022)	criteria provided, conflicting interpretations
Select item 104985925.	NM_000301.5(PLG):c.646G>A (p.Ala216Thr) GRCh37: Chr6:161135924 GRCh38: Chr6:160714892	PLG	A216T	Angioedema, hereditary, 4, Plasminogen deficiency, type I	Uncertain significance (Dec 10, 2021)	criteria provided, single submitter
Select item 103230026.	NM_000301.5(PLG):c.266G>C (p.Arg89Thr) GRCh37: Chr6:161128812 GRCh38: Chr6:160707780	PLG	R89T	Plasminogen deficiency, type I, Plasminogen deficiency, type I, Angioedema, hereditary, 4	Uncertain significance (Aug 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 102978227.	NM_000301.5(PLG):c.466G>A (p.Asp156Asn) GRCh37: Chr6:161134076 GRCh38: Chr6:160713044	PLG	D156N	Plasminogen deficiency, type I, Plasminogen deficiency, type I, Angioedema, hereditary, 4	Uncertain significance (Nov 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 98822728.	NM_000301.5(PLG):c.1735G>A (p.Gly579Arg) GRCh37: Chr6:161157972 GRCh38: Chr6:160736940	PLG	G579R	Inborn genetic diseases, not provided, Plasminogen deficiency, type I, Angioedema, hereditary, 4	Uncertain significance (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93046729.	NM_000301.5(PLG):c.2263A>G (p.Ser755Gly) GRCh37: Chr6:161173284 GRCh38: Chr6:160752252	PLG	S755G	Plasminogen deficiency, type I	Uncertain significance (Apr 25, 2019)	criteria provided, single submitter
Select item 83023630.	NM_000301.5(PLG):c.886T>G (p.Cys296Gly) GRCh37: Chr6:161139424 GRCh38: Chr6:160718392	PLG	C296G	Plasminogen deficiency, type I	Pathogenic (Jul 29, 2018)	no assertion criteria provided
Select item 81003631.	NM_000301.5(PLG):c.2134G>A (p.Gly712Arg) GRCh37: Chr6:161173155 GRCh38: Chr6:160752123	PLG	G712R	Plasminogen deficiency, type I, Angioedema, hereditary, 4, not provided	Uncertain significance (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80002932.	NM_000301.5(PLG):c.1722G>A (p.Pro574=) GRCh37: Chr6:161157959 GRCh38: Chr6:160736927	PLG		Plasminogen deficiency, type I, Angioedema, hereditary, 4, not provided	Likely benign (Sep 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 78886133.	NM_000301.5(PLG):c.1281G>A (p.Arg427=) GRCh37: Chr6:161152107 GRCh38: Chr6:160731075	PLG		not provided, Angioedema, hereditary, 4, Plasminogen deficiency, type I	Benign/Likely benign (Oct 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 78375934.	NM_000301.5(PLG):c.36A>G (p.Leu12=) GRCh37: Chr6:161123372 GRCh38: Chr6:160702340	PLG		Plasminogen deficiency, type I, Angioedema, hereditary, 4, not provided	Likely benign (Oct 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 78294935.	NM_000301.5(PLG):c.1962G>T (p.Val654=) GRCh37: Chr6:161160184 GRCh38: Chr6:160739152	PLG		Angioedema, hereditary, 4, Plasminogen deficiency, type I, not provided	Likely benign (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 77827536.	NM_000301.5(PLG):c.1380T>A (p.Ser460Arg) GRCh37: Chr6:161152206 GRCh38: Chr6:160731174	PLG	S460R	Angioedema, hereditary, 4, Plasminogen deficiency, type I, not provided	Benign (Oct 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 77036737.	NM_000301.5(PLG):c.1567C>T (p.Arg523Trp) GRCh37: Chr6:161152905 GRCh38: Chr6:160731873	PLG	R523W	not provided, Plasminogen deficiency, type I, Angioedema, hereditary, 4	Benign/Likely benign (Jan 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 73390238.	NM_000301.5(PLG):c.1468C>A (p.Arg490=) GRCh37: Chr6:161152806 GRCh38: Chr6:160731774	PLG		Plasminogen deficiency, type I, Angioedema, hereditary, 4, not provided	Likely benign (May 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 71971339.	NM_000301.5(PLG):c.1431C>T (p.Ser477=) GRCh37: Chr6:161152257 GRCh38: Chr6:160731225	PLG		not provided, Angioedema, hereditary, 4, Plasminogen deficiency, type I	Benign (Sep 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 71587740.	NM_000301.5(PLG):c.2087G>A (p.Arg696Gln) GRCh37: Chr6:161162411 GRCh38: Chr6:160741379	PLG	R696Q	not provided, Plasminogen deficiency, type I, Angioedema, hereditary, 4	Likely benign (Dec 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 69220341.	NM_000301.5(PLG):c.2045T>A (p.Ile682Asn) GRCh37: Chr6:161162369 GRCh38: Chr6:160741337	PLG	I682N	Plasminogen deficiency, type I, not provided, Deep venous thrombosis	Conflicting interpretations of pathogenicity (Jul 22, 2022)	criteria provided, conflicting interpretations
Select item 62728142.	NM_000301.5(PLG):c.2278A>G (p.Ser760Gly) GRCh37: Chr6:161173938 GRCh38: Chr6:160752906	PLG	S760G	Plasminogen deficiency, type I	Uncertain significance (Feb 1, 2019)	criteria provided, single submitter
Select item 62716043.	NM_000301.5(PLG):c.950+4A>G GRCh37: Chr6:161139492 GRCh38: Chr6:160718460	PLG		Plasminogen deficiency, type I	Uncertain significance (Feb 1, 2019)	criteria provided, single submitter
Select item 62698244.	NM_000301.5(PLG):c.1217C>A (p.Pro406Gln) GRCh37: Chr6:161143560 GRCh38: Chr6:160722528	PLG	P406Q	Plasminogen deficiency, type I	Uncertain significance (Feb 1, 2019)	criteria provided, single submitter
Select item 54611345.	NM_000301.5(PLG):c.1657G>A (p.Asp553Asn) GRCh37: Chr6:161155096 GRCh38: Chr6:160734064	PLG	D553N	not provided, Plasminogen deficiency, type I, Angioedema, hereditary, 4	Uncertain significance (Aug 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 7622446.	NM_000301.5(PLG):c.1469G>A (p.Arg490Gln) GRCh37: Chr6:161152807 GRCh38: Chr6:160731775	PLG	R490Q	Deep venous thrombosis, Thrombus, not provided, Plasminogen deficiency, type I	Conflicting interpretations of pathogenicity (Oct 3, 2022)	criteria provided, conflicting interpretations
Select item 1358347.	NM_000301.5(PLG):c.112A>G (p.Lys38Glu) GRCh37: Chr6:161127501 GRCh38: Chr6:160706469	PLG	K38E	not provided, Plasminogen deficiency, type I, Deep venous thrombosis	Conflicting interpretations of pathogenicity (Oct 30, 2022)	criteria provided, conflicting interpretations
Select item 1358248.	NM_000301.5(PLG):c.2125+1del GRCh37: Chr6:161162449 GRCh38: Chr6:160741417	PLG		Plasminogen deficiency, type I	Pathogenic (May 15, 1999)	no assertion criteria provided
Select item 1358149.	NM_000301.5(PLG):c.687GAA[2] (p.Lys231del) GRCh37: Chr6:161137695-161137697 GRCh38: Chr6:160716663-160716665	PLG	K231del	not provided	Uncertain significance (Aug 29, 2022)	criteria provided, single submitter
Select item 1357950.	NM_000301.5(PLG):c.1435G>T (p.Glu479Ter) GRCh37: Chr6:161152261 GRCh38: Chr6:160731229	PLG	E479*	Plasminogen deficiency, type I	Pathogenic (Dec 3, 1998)	no assertion criteria provided
Select item 1357851.	NM_000301.5(PLG):c.1848G>A (p.Trp616Ter) GRCh37: Chr6:161159615 GRCh38: Chr6:160738583	LOC126859861, PLG	W616*	Plasminogen deficiency, type I	Pathogenic (Aug 1, 1997)	no assertion criteria provided
Select item 1357752.	NM_000301.5(PLG):c.704G>A (p.Arg235His) GRCh37: Chr6:161137712 GRCh38: Chr6:160716680	PLG	R235H	Plasminogen deficiency, type I	Pathogenic (May 15, 1999)	no assertion criteria provided
Select item 1357453.	NM_000301.5(PLG):c.1858G>A (p.Ala620Thr) GRCh37: Chr6:161159625 GRCh38: Chr6:160738593	LOC126859861, PLG	A620T	not specified, not provided, Plasminogen deficiency, type I	Conflicting interpretations of pathogenicity (Jun 28, 2023)	criteria provided, conflicting interpretations

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Items: 53