Related gene-specific medical variations for Gene (Select 5340) - ClinVar - NCBI

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Links from Gene

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246082	NC_000006.11:g.(?_161123337)_(161155140_?)dup	PLG	Duplication	not provided	GUncertain significance
Select item 3058536	NM_000301.5(PLG):c.1869C>T (p.Cys623=)	LOC126859861, PLG	Single nucleotide variant (synonymous variant)	PLG-related disorder	GLikely benign
Select item 2989963	NM_000301.5(PLG):c.1877+8T>C	LOC126859861, PLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2734967	NM_000301.5(PLG):c.1848G>C (p.Trp616Cys)	LOC126859861, PLG (W616C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2727365	NM_000301.5(PLG):c.1851G>T (p.Val617=)	LOC126859861, PLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2435084	NM_000301.5(PLG):c.435G>T (p.Glu145Asp)	PLG (E145D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2050622	NM_000301.5(PLG):c.1875G>A (p.Glu625=)	LOC126859861, PLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1653288	NM_000301.5(PLG):c.1877+15C>A	LOC126859861, PLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1585592	NM_000301.5(PLG):c.1803-17C>A	LOC126859861, PLG	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1248977	NM_000301.5(PLG):c.1803-204T>G	LOC126859861, PLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 930467	NM_000301.5(PLG):c.2263A>G (p.Ser755Gly)	PLG (S755G)	Single nucleotide variant (missense variant)	Plasminogen deficiency, type I	GUncertain significance
Select item 713789	NM_000301.5(PLG):c.1852T>C (p.Leu618=)	LOC126859861, PLG	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 13578	NM_000301.5(PLG):c.1848G>A (p.Trp616Ter)	LOC126859861, PLG (W616*)	Single nucleotide variant (nonsense)	Plasminogen deficiency, type I	GPathogenic
Select item 13574	NM_000301.5(PLG):c.1858G>A (p.Ala620Thr)	LOC126859861, PLG (A620T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity