Total 11 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

5 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 Conflicting classifications of pathogenicity Plasminogen deficiency, type I
Condition: not provided
Otitis media, susceptibility to
Deep venous thrombosis		 Criteria Provided
Conflicting Classifications
 CA123283 rs_73015965

16 SubmittersRCV000014551RCV000725124RCV000999694RCV002221996
NM_000301.5(PLG):c.1469G>A (p.Arg490Gln) SNV
Germline		 Chr6:160731775 Conflicting classifications of pathogenicity Plasminogen deficiency, type I
Thrombocytopenia
Abnormal bleeding
Condition: not provided
Thrombus
Deep venous thrombosis
PLG-related disorder		 Criteria Provided
Conflicting Classifications
 CA4087798 rs_140537724

6 SubmittersRCV000625418RCV001270566RCV001579765RCV002280865RCV002222014RCV003935005
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		 Criteria Provided
Conflicting Classifications
 rs_147175166

5 SubmittersRCV000999697RCV001331144RCV002064421RCV002222053
NM_000301.5(PLG):c.886T>G (p.Cys296Gly) SNV
Unknown		 Chr6:160718392 Pathogenic Plasminogen deficiency, type I No Assertion Criteria Provided
 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
 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
 rs_2115181746

1 SubmittersRCV001535942