C1968804[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1693937	NM_000301.5(PLG):c.17T>C (p.Val6Ala)	PLG (V6A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 783759	NM_000301.5(PLG):c.36A>G (p.Leu12=)	PLG	Single nucleotide variant (synonymous variant)	Plasminogen deficiency, type I +2 more	GLikely benign
Select item 13583	NM_000301.5(PLG):c.112A>G (p.Lys38Glu)	PLG (K38E)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1162997	NM_000301.5(PLG):c.115A>C (p.Lys39Gln)	PLG (K39Q)	Single nucleotide variant (missense variant)	Plasminogen deficiency, type I +2 more	GUncertain significance
Select item 1050571	NM_000301.5(PLG):c.185+14C>A	PLG	Single nucleotide variant (intron variant)	Angioedema, hereditary, 4 +2 more	GConflicting classifications of pathogenicity
Select item 1032300	NM_000301.5(PLG):c.266G>C (p.Arg89Thr)	PLG (R89T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1346118	NM_000301.5(PLG):c.317G>C (p.Gly106Ala)	PLG (G106A)	Single nucleotide variant (missense variant)	Angioedema, hereditary, 4 +3 more	GUncertain significance
Select item 1163000	NM_000301.5(PLG):c.368C>T (p.Thr123Ile)	PLG (T123I)	Single nucleotide variant (missense variant)	Plasminogen deficiency, type I +2 more	GUncertain significance
Select item 1029782	NM_000301.5(PLG):c.466G>A (p.Asp156Asn)	PLG (D156N)	Single nucleotide variant (missense variant)	Plasminogen deficiency, type I +1 more	GUncertain significance
Select item 1434696	NM_000301.5(PLG):c.505C>A (p.Pro169Thr)	PLG (P169T)	Single nucleotide variant (missense variant)	Angioedema, hereditary, 4 +2 more	GUncertain significance
Select item 1163002	NM_000301.5(PLG):c.514A>G (p.Arg172Gly)	PLG (R172G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1049859	NM_000301.5(PLG):c.646G>A (p.Ala216Thr)	PLG (A216T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1436722	NM_000301.5(PLG):c.669-3C>G	PLG	Single nucleotide variant (intron variant)	Plasminogen deficiency, type I +2 more	GUncertain significance
Select item 1693938	NM_000301.5(PLG):c.745G>A (p.Asp249Asn)	PLG (D249N)	Single nucleotide variant (missense variant)	Angioedema, hereditary, 4 +2 more	GUncertain significance
Select item 1693939	NM_000301.5(PLG):c.814A>G (p.Thr272Ala)	PLG (T272A)	Single nucleotide variant (missense variant)	Angioedema, hereditary, 4 +2 more	GUncertain significance
Select item 1339742	NM_000301.5(PLG):c.848A>G (p.Tyr283Cys)	PLG (Y283C)	Single nucleotide variant (missense variant)	Angioedema, hereditary, 4 +2 more	GUncertain significance
Select item 788861	NM_000301.5(PLG):c.1281G>A (p.Arg427=)	PLG	Single nucleotide variant (synonymous variant)	Plasminogen deficiency, type I +2 more	GBenign/Likely benign
Select item 1365591	NM_000301.5(PLG):c.1329C>A (p.Ser443Arg)	PLG (S443R)	Single nucleotide variant (missense variant)	Plasminogen deficiency, type I +2 more	GUncertain significance
Select item 778275	NM_000301.5(PLG):c.1380T>A (p.Ser460Arg)	PLG (S460R)	Single nucleotide variant (missense variant)	Angioedema, hereditary, 4 +2 more	GBenign
Select item 1693940	NM_000301.5(PLG):c.1394C>T (p.Pro465Leu)	PLG (P465L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 719713	NM_000301.5(PLG):c.1431C>T (p.Ser477=)	PLG	Single nucleotide variant (synonymous variant)	Plasminogen deficiency, type I +2 more	GBenign
Select item 733902	NM_000301.5(PLG):c.1468C>A (p.Arg490=)	PLG	Single nucleotide variant (synonymous variant)	Angioedema, hereditary, 4 +2 more	GLikely benign
Select item 770367	NM_000301.5(PLG):c.1567C>T (p.Arg523Trp)	PLG (R523W)	Single nucleotide variant (missense variant)	Plasminogen deficiency, type I +2 more	GBenign/Likely benign
Select item 546113	NM_000301.5(PLG):c.1657G>A (p.Asp553Asn)	PLG (D553N)	Single nucleotide variant (missense variant)	Plasminogen deficiency, type I +2 more	GUncertain significance
Select item 800029	NM_000301.5(PLG):c.1722G>A (p.Pro574=)	PLG	Single nucleotide variant (synonymous variant)	Plasminogen deficiency, type I +2 more	GLikely benign
Select item 988227	NM_000301.5(PLG):c.1735G>A (p.Gly579Arg)	PLG (G579R)	Single nucleotide variant (missense variant)	Plasminogen deficiency, type I +3 more	GUncertain significance
Select item 1585592	NM_000301.5(PLG):c.1803-17C>A	PLG, LOC126859861	Single nucleotide variant (intron variant)	Plasminogen deficiency, type I +2 more	GBenign
Select item 782949	NM_000301.5(PLG):c.1962G>T (p.Val654=)	PLG	Single nucleotide variant (synonymous variant)	Angioedema, hereditary, 4 +2 more	GLikely benign
Select item 1163463	NM_000301.5(PLG):c.1997T>C (p.Ile666Thr)	PLG (I666T)	Single nucleotide variant (missense variant)	Angioedema, hereditary, 4 +2 more	GUncertain significance
Select item 1179096	NM_000301.5(PLG):c.2019-1G>A	PLG	Single nucleotide variant (splice acceptor variant)	Plasminogen deficiency, type I	GLikely pathogenic
Select item 715877	NM_000301.5(PLG):c.2087G>A (p.Arg696Gln)	PLG (R696Q)	Single nucleotide variant (missense variant)	Plasminogen deficiency, type I +2 more	GLikely benign
Select item 810036	NM_000301.5(PLG):c.2134G>A (p.Gly712Arg)	PLG (G712R)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance

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Items: 32