C0272375[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 874662	NM_000488.4(SERPINC1):c.1342C>T (p.Pro448Ser)	SERPINC1 (P448S +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GUncertain significance
Select item 874663	NM_000488.4(SERPINC1):c.1172G>A (p.Arg391Gln)	SERPINC1 (R343Q +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GUncertain significance
Select item 293836	NM_000488.4(SERPINC1):c.1096C>G (p.Gln366Glu)	SERPINC1 (Q366E +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GUncertain significance
Select item 874664	NM_000488.4(SERPINC1):c.1066C>T (p.Arg356Cys)	SERPINC1 (R308C +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GUncertain significance
Select item 293837	NM_000488.4(SERPINC1):c.1054A>G (p.Met352Val)	SERPINC1 (M352V +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GUncertain significance
Select item 256247	NM_000488.4(SERPINC1):c.1011A>G (p.Gln337=)	SERPINC1	Single nucleotide variant (synonymous variant)	Hereditary antithrombin deficiency	GBenign FDA Recognized database
Select item 293838	NM_000488.4(SERPINC1):c.1005G>A (p.Val335=)	SERPINC1	Single nucleotide variant (synonymous variant)	Hereditary antithrombin deficiency	GBenign/Likely benign
Select item 256248	NM_000488.4(SERPINC1):c.981A>G (p.Val327=)	SERPINC1	Single nucleotide variant (synonymous variant)	Hereditary antithrombin deficiency	GBenign FDA Recognized database
Select item 875607	NM_000488.4(SERPINC1):c.975C>G (p.Ala325=)	SERPINC1	Single nucleotide variant (synonymous variant)	Hereditary antithrombin deficiency	GUncertain significance
Select item 597303	NM_000488.4(SERPINC1):c.914C>A (p.Pro305His)	SERPINC1 (P305H +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GBenign FDA Recognized database
Select item 161390	NM_000488.4(SERPINC1):c.886G>C (p.Ala296Pro)	SERPINC1 (A296P +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GUncertain significance
Select item 293839	NM_000488.4(SERPINC1):c.870C>T (p.Phe290=)	SERPINC1	Single nucleotide variant (synonymous variant)	Hereditary antithrombin deficiency	GConflicting classifications of pathogenicity
Select item 219483	NM_000488.4(SERPINC1):c.678C>T (p.Thr226=)	SERPINC1	Single nucleotide variant (synonymous variant)	Hereditary antithrombin deficiency	GBenign/Likely benign
Select item 529743	NM_000488.4(SERPINC1):c.594T>C (p.Tyr198=)	SERPINC1	Single nucleotide variant (synonymous variant +1 more)	Hereditary antithrombin deficiency	GConflicting classifications of pathogenicity
Select item 876601	NM_000488.4(SERPINC1):c.408+4C>T	SERPINC1	Single nucleotide variant (intron variant)	Hereditary antithrombin deficiency	GLikely benign FDA Recognized database
Select item 635233	NM_000488.4(SERPINC1):c.299A>G (p.Asp100Gly)	SERPINC1 (D100G +2 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GConflicting classifications of pathogenicity
Select item 18014	NM_000488.4(SERPINC1):c.236G>A (p.Arg79His)	SERPINC1 (R79H +2 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GPathogenic FDA Recognized database
Select item 876602	NM_000488.4(SERPINC1):c.233G>A (p.Arg78Gln)	SERPINC1 (R78Q +2 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GUncertain significance
Select item 18011	NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu)	SERPINC1 (P73L +2 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GPathogenic FDA Recognized database
Select item 18012	NM_000488.4(SERPINC1):c.89T>A (p.Val30Glu)	SERPINC1 (V57E)	Single nucleotide variant (missense variant +1 more)	Hereditary antithrombin deficiency +3 more	GConflicting classifications of pathogenicity
Select item 876603	NM_000488.4(SERPINC1):c.47T>C (p.Val16Ala)	SERPINC1 (V16A +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary antithrombin deficiency	GUncertain significance
Select item 870846	NM_000488.4(SERPINC1):c.29C>A (p.Thr10Asn)	SERPINC1 (T10N)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 293840	NM_000488.4(SERPINC1):c.-57G>A	SERPINC1	Single nucleotide variant (5 prime UTR variant)	Hereditary antithrombin deficiency	GUncertain significance
Select item 293841	NM_000488.3(SERPINC1):c.-88G>A	SERPINC1	Single nucleotide variant	Hereditary antithrombin deficiency	GUncertain significance

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Items: 24