C2717906[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 305010	NM_000062.2(SERPING1):c.-105C>A	SERPING1	Single nucleotide variant	Hereditary angioedema type 1	GUncertain significance
Select item 877957	NM_000062.2(SERPING1):c.-100C>G	SERPING1	Single nucleotide variant	SERPING1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 305011	NM_000062.2(SERPING1):c.-99C>G	SERPING1	Single nucleotide variant	SERPING1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 877958	NM_000062.2(SERPING1):c.-94C>G	SERPING1	Single nucleotide variant	Hereditary angioedema type 1	GUncertain significance
Select item 305012	NM_000062.3(SERPING1):c.-56T>G	SERPING1	Single nucleotide variant (5 prime UTR variant)	Hereditary angioedema type 1	GUncertain significance
Select item 305013	NM_000062.3(SERPING1):c.-36A>T	SERPING1	Single nucleotide variant (5 prime UTR variant)	Hereditary angioedema type 1	GUncertain significance
Select item 305014	NM_000062.3(SERPING1):c.-24G>C	SERPING1	Single nucleotide variant (5 prime UTR variant)	Hereditary angioedema type 1	GBenign
Select item 305015	NM_000062.3(SERPING1):c.-21T>C	SERPING1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 305016	NM_000062.3(SERPING1):c.5C>T (p.Ala2Val)	SERPING1 (A2V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 305017	NM_000062.3(SERPING1):c.51G>C (p.Gly17=)	SERPING1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 305018	NM_000062.3(SERPING1):c.117C>G (p.Asp39Glu)	SERPING1 (D39E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 305019	NM_000062.3(SERPING1):c.135C>T (p.Val45=)	SERPING1	Single nucleotide variant (synonymous variant)	Hereditary angioedema type 1	GUncertain significance
Select item 878120	NM_000062.3(SERPING1):c.142A>G (p.Thr48Ala)	SERPING1 (T48A)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1 +1 more	GBenign
Select item 305020	NM_000062.3(SERPING1):c.167T>C (p.Val56Ala)	SERPING1 (V56A)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 879578	NM_000062.3(SERPING1):c.169G>A (p.Glu57Lys)	SERPING1 (E57K)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 305021	NM_000062.3(SERPING1):c.227C>T (p.Thr76Ile)	SERPING1 (T76I)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1 +1 more	GConflicting classifications of pathogenicity
Select item 879579	NM_000062.3(SERPING1):c.244A>T (p.Thr82Ser)	SERPING1 (T82S)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1 +2 more	GConflicting classifications of pathogenicity
Select item 305022	NM_000062.3(SERPING1):c.285C>A (p.Thr95=)	SERPING1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 879580	NM_000062.3(SERPING1):c.293C>T (p.Pro98Leu)	SERPING1 (P98L)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1	GUncertain significance
Select item 879581	NM_000062.3(SERPING1):c.330A>G (p.Pro110=)	SERPING1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 68250	NM_000062.3(SERPING1):c.352A>G (p.Thr118Ala)	SERPING1 (T118A)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1 +2 more	GBenign
Select item 305023	NM_000062.3(SERPING1):c.465C>T (p.His155=)	SERPING1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 305024	NM_000062.3(SERPING1):c.468C>T (p.Ala156=)	SERPING1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 879934	NM_000062.3(SERPING1):c.497A>C (p.Asn166Thr)	SERPING1 (N166T)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1	GUncertain significance
Select item 695507	NM_000062.3(SERPING1):c.550+9C>G	SERPING1	Single nucleotide variant (intron variant)	SERPING1-related condition +2 more	GLikely benign
Select item 92194	NM_000062.3(SERPING1):c.686-9T>C	SERPING1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 305025	NM_000062.3(SERPING1):c.686-5C>G	SERPING1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 879935	NM_000062.3(SERPING1):c.721C>T (p.Arg241Trp)	SERPING1 (R241W)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1 +1 more	GUncertain significance
Select item 305026	NM_000062.3(SERPING1):c.751C>T (p.Leu251=)	SERPING1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 305027	NM_000062.3(SERPING1):c.849C>T (p.Ser283=)	SERPING1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 877129	NM_000062.3(SERPING1):c.856C>G (p.Arg286Gly)	SERPING1 (R286G)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1	GUncertain significance
Select item 877130	NM_000062.3(SERPING1):c.872A>G (p.Asn291Ser)	SERPING1 (N291S)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1	GUncertain significance
Select item 877131	NM_000062.3(SERPING1):c.981C>T (p.Ser327=)	SERPING1	Single nucleotide variant (synonymous variant)	Hereditary angioedema type 1 +1 more	GConflicting classifications of pathogenicity
Select item 877132	NM_000062.3(SERPING1):c.1029+5G>T	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1 +1 more	GBenign
Select item 877133	NM_000062.3(SERPING1):c.1164G>A (p.Met388Ile)	SERPING1 (M388I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 305028	NM_000062.3(SERPING1):c.1218C>T (p.Ser406=)	SERPING1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 877134	NM_000062.3(SERPING1):c.1409T>A (p.Val470Asp)	SERPING1 (V470D)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1	GUncertain significance
Select item 877135	NM_000062.3(SERPING1):c.1434C>T (p.Leu478=)	SERPING1	Single nucleotide variant (synonymous variant)	Hereditary angioedema type 1 +1 more	GLikely benign
Select item 254786	NM_000062.3(SERPING1):c.1438G>A (p.Val480Met)	SERPING1 (V480M)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 878165	NM_000062.3(SERPING1):c.*66T>C	SERPING1	Single nucleotide variant (3 prime UTR variant)	Hereditary angioedema type 1	GUncertain significance

ClinVar

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Items: 40