"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "SERPINC1"[gene - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 18023	NM_000488.4(SERPINC1):c.1246G>T (p.Ala416Ser)	SERPINC1 (A416S +6 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 18020	NM_000488.4(SERPINC1):c.1240G>A (p.Ala414Thr)	SERPINC1 (A414T +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency +1 more	GPathogenic
Select item 2683224	NM_000488.4(SERPINC1):c.1109T>C (p.Met370Thr)	SERPINC1 (M298T +6 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 627161	NM_000488.4(SERPINC1):c.953C>T (p.Pro318Leu)	SERPINC1 (P318L +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GPathogenic FDA Recognized database
Select item 3381065	NM_000488.4(SERPINC1):c.949T>G (p.Leu317Val)	SERPINC1 (L245V +6 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3381071	NM_000488.4(SERPINC1):c.894_901del (p.Thr299fs)	SERPINC1 (T227fs +6 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 410383	NM_000488.4(SERPINC1):c.805G>A (p.Glu269Lys)	SERPINC1 (E269K +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary antithrombin deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2682678	NM_000488.4(SERPINC1):c.762G>A (p.Lys254=)	SERPINC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1455332	NM_000488.4(SERPINC1):c.685C>T (p.Arg229Ter)	SERPINC1 (R157* +3 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2683229	NM_000488.4(SERPINC1):c.663G>A (p.Trp221Ter)	SERPINC1 (W149* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2429353	NM_000488.4(SERPINC1):c.490C>T (p.Arg164Ter)	SERPINC1 (R116* +2 more)	Single nucleotide variant (nonsense +1 more)	Hereditary antithrombin deficiency +1 more	GPathogenic/Likely pathogenic
Select item 188092	NM_000488.4(SERPINC1):c.456CTT[2] (p.Phe155del)	SERPINC1 (F155del +2 more)	Microsatellite (inframe_deletion +1 more)	Hereditary antithrombin deficiency +1 more	GPathogenic/Likely pathogenic
Select item 654211	NM_000488.4(SERPINC1):c.449A>C (p.Gln150Pro)	SERPINC1 (Q102P +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary antithrombin deficiency	GLikely pathogenic FDA Recognized database
Select item 1705949	NM_000488.4(SERPINC1):c.373G>T (p.Gly125Cys)	SERPINC1 (G125C +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2633530	NM_000488.4(SERPINC1):c.277del (p.Thr93fs)	SERPINC1 (T120fs +2 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 18004	NM_000488.4(SERPINC1):c.235C>T (p.Arg79Cys)	SERPINC1 (R79C +2 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GPathogenic FDA Recognized database
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 627247	NM_000488.4(SERPINC1):c.159C>A (p.Cys53Ter)	SERPINC1 (C53* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 3380207	NM_000488.4(SERPINC1):c.158G>T (p.Cys53Phe)	SERPINC1 (C53F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 18012	NM_000488.4(SERPINC1):c.89T>A (p.Val30Glu)	SERPINC1 (V57E)	Single nucleotide variant (missense variant +1 more)	Deep venous thrombosis +3 more	GConflicting classifications of pathogenicity
Select item 870846	NM_000488.4(SERPINC1):c.29C>A (p.Thr10Asn)	SERPINC1 (T10N)	Single nucleotide variant (missense variant +2 more)	Hereditary antithrombin deficiency	GLikely benign FDA Recognized database

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Items: 22