Total 23 pathogenic variants reported for Plasminogen deficiency 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000301.5(PLG):c.1858G>A (p.Ala620Thr) SNV
Germline		 Chr6:160738593 Conflicting classifications of pathogenicity Dysplasminogenemia
Plasminogen deficiency, type I
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA123263 rs_121918027

6 SubmittersRCV000014542RCV000490289RCV003317035RCV002513047
NM_000301.5(PLG):c.704G>A (p.Arg235His) SNV
Germline		 Chr6:160716680 Pathogenic Plasminogen deficiency, type I No Assertion Criteria Provided
 CA123269 rs_121918030

1 SubmittersRCV000014545
NM_000301.5(PLG):c.1848G>A (p.Trp616Ter) SNV
Germline		 Chr6:160738583 Pathogenic Plasminogen deficiency, type I No Assertion Criteria Provided
 CA123271 rs_121918031

1 SubmittersRCV000014546
NM_000301.5(PLG):c.1435G>T (p.Glu479Ter) SNV
Germline		 Chr6:160731229 Pathogenic Plasminogen deficiency, type I No Assertion Criteria Provided
 CA123274 rs_121918032

1 SubmittersRCV000014547
NM_000301.5(PLG):c.112A>G (p.Lys38Glu) SNV
Germline		 Chr6:160706469 Pathogenic/Likely pathogenic Plasminogen deficiency, type I
Condition: not provided
Otitis media, susceptibility to
Deep venous thrombosis
Angioedema, hereditary, 4
Plasminogen deficiency, type I		 Criteria Provided
Multiple Submitters
No Conflicts
 CA123283 rs_73015965

17 SubmittersRCV000014551RCV000725124RCV000999694RCV002221996RCV005042050
NM_000301.5(PLG):c.1469G>A (p.Arg490Gln) SNV
Germline		 Chr6:160731775 Conflicting classifications of pathogenicity Plasminogen deficiency, type I
Abnormal bleeding
Thrombocytopenia
Deep venous thrombosis
Thrombus
Condition: not provided
PLG-related disorder		 Criteria Provided
Conflicting Classifications
 CA4087798 rs_140537724

6 SubmittersRCV000625418RCV001270566RCV002222014RCV002280865RCV001579765RCV003935005
NM_000301.5(PLG):c.988A>G (p.Lys330Glu) SNV
Germline		 Chr6:160718730 Pathogenic Hereditary angioneurotic edema
Angioedema, hereditary, 4
Condition: not provided
PLG-related disorder
Angioedema, hereditary, 4
Plasminogen deficiency, type I		 Criteria Provided
Multiple Submitters
No Conflicts
 CA151219801 rs_889957249

7 SubmittersRCV000768407RCV001507288RCV001862090RCV003420282RCV005034336
NM_000301.5(PLG):c.782G>A (p.Arg261His) SNV
Germline		 Chr6:160716758 Conflicting classifications of pathogenicity Otitis media, susceptibility to
Condition: not provided
PLG-related disorder
Plasminogen deficiency, type I
Angioedema, hereditary, 4		 Criteria Provided
Conflicting Classifications
 CA4087567 rs_4252187

6 SubmittersRCV000999695RCV000886591RCV003908140RCV005392468
NM_000301.5(PLG):c.2045T>A (p.Ile682Asn) SNV
Germline		 Chr6:160741337 Conflicting classifications of pathogenicity Otitis media, susceptibility to
Plasminogen deficiency, type I
Condition: not provided
Deep venous thrombosis
not specified		 Criteria Provided
Conflicting Classifications
 CA4087975 rs_147175166

6 SubmittersRCV000999697RCV001331144RCV002064421RCV002222053RCV004586955
NM_000301.5(PLG):c.1259G>A (p.Gly420Asp) SNV
Germline		 Chr6:160731053 Conflicting classifications of pathogenicity Condition: not provided
PLG-related disorder
Plasminogen deficiency, type I
Angioedema, hereditary, 4
not specified		 Criteria Provided
Conflicting Classifications
 CA4087736 rs_139071351

8 SubmittersRCV000890732RCV003930785RCV005392512RCV004768734
NM_000301.5(PLG):c.886T>G (p.Cys296Gly) SNV
Unknown		 Chr6:160718392 Pathogenic Plasminogen deficiency, type I No Assertion Criteria Provided
 CA366362675 rs_1777777927

1 SubmittersRCV001030447
NM_000301.5(PLG):c.185+14C>A SNV
Germline		 Chr6:160706556 Conflicting classifications of pathogenicity Condition: not provided
Plasminogen deficiency, type I
Angioedema, hereditary, 4		 Criteria Provided
Conflicting Classifications
 CA4087317 rs_369616302

3 SubmittersRCV001358161RCV002476640
NM_000301.5(PLG):c.2019-1G>A SNV
Unknown		 Chr6:160741310 Likely pathogenic Plasminogen deficiency, type I Criteria Provided
Single Submitter
 CA366366126 rs_2115181746

1 SubmittersRCV001535942
NM_000301.5(PLG):c.1335G>T (p.Arg445Ser) SNV
Germline		 Chr6:160731129 Conflicting classifications of pathogenicity Condition: not provided
Plasminogen deficiency, type I
Angioedema, hereditary, 4		 Criteria Provided
Conflicting Classifications
 CA4087753 rs_371661937

2 SubmittersRCV002994005RCV005399053
NM_000301.5(PLG):c.313A>G (p.Thr105Ala) SNV
Germline		 Chr6:160711097 Conflicting classifications of pathogenicity Condition: not provided
Angioedema, hereditary, 4
Plasminogen deficiency, type I		 Criteria Provided
Conflicting Classifications
 CA4087394 rs_750185991

2 SubmittersRCV003553793RCV005036860
NM_000301.5(PLG):c.1987C>T (p.Arg663Ter) SNV
Germline		 Chr6:160739177 Likely pathogenic Angioedema, hereditary, 4
Plasminogen deficiency, type I		 Criteria Provided
Single Submitter

1 SubmittersRCV005039575
NM_000301.5(PLG):c.292+1G>C SNV
Germline		 Chr6:160707807 Likely pathogenic Angioedema, hereditary, 4
Plasminogen deficiency, type I		 Criteria Provided
Single Submitter

1 SubmittersRCV005039530
NM_000301.5(PLG):c.910C>G (p.Pro304Ala) SNV
Germline		 Chr6:160718416 Likely pathogenic Angioedema, hereditary, 4
Plasminogen deficiency, type I		 Criteria Provided
Single Submitter

1 SubmittersRCV005039548
NM_000301.5(PLG):c.948C>A (p.Cys316Ter) SNV
Germline		 Chr6:160718454 Likely pathogenic Angioedema, hereditary, 4
Plasminogen deficiency, type I		 Criteria Provided
Single Submitter

1 SubmittersRCV005039550
NM_000301.5(PLG):c.992G>C (p.Arg331Thr) SNV
Germline		 Chr6:160718734 Conflicting classifications of pathogenicity Plasminogen deficiency, type I
Angioedema, hereditary, 4
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV005039552RCV005105271RCV005392939
NM_000301.5(PLG):c.1458G>T (p.Gly486=) SNV
Germline		 Chr6:160731764 Conflicting classifications of pathogenicity Plasminogen deficiency, type I
Angioedema, hereditary, 4
Condition: not provided		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV005039563RCV005063316