"NIHR Bioresource Rare Diseases, University of Cambridge"[submitter] A - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 627231	NM_000488.4(SERPINC1):c.1393T>C (p.Ter465Gln)	SERPINC1	Single nucleotide variant (stop lost)	Hereditary antithrombin deficiency	GLikely pathogenic
Select item 626996	NM_000488.4(SERPINC1):c.1376C>A (p.Ala459Asp)	SERPINC1 (A459D +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GLikely pathogenic
Select item 627228	NM_000488.4(SERPINC1):c.1315C>A (p.Pro439Thr)	SERPINC1 (P439T +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GPathogenic FDA Recognized database
Select item 529741	NM_000488.4(SERPINC1):c.1315C>T (p.Pro439Ser)	SERPINC1 (P439S +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GUncertain significance FDA Recognized database
Select item 627224	NM_000488.4(SERPINC1):c.1301T>G (p.Phe434Cys)	SERPINC1 (F434C +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GUncertain significance FDA Recognized database
Select item 627501	NM_000488.4(SERPINC1):c.1154-50_1218+50del	SERPINC1	Deletion (splice acceptor variant +1 more)	Hereditary antithrombin deficiency	GLikely pathogenic
Select item 410384	NM_000488.4(SERPINC1):c.1154-14G>A	SERPINC1	Single nucleotide variant (intron variant)	Hereditary antithrombin deficiency	GPathogenic FDA Recognized database
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 627149	NM_000488.4(SERPINC1):c.851T>A (p.Met284Lys)	SERPINC1 (M284K +6 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GUncertain significance
Select item 627145	NM_000488.4(SERPINC1):c.830del (p.Glu277fs)	SERPINC1 (E229fs +6 more)	Deletion (frameshift variant)	Hereditary antithrombin deficiency	GLikely pathogenic
Select item 627141	NM_000488.4(SERPINC1):c.801_805del (p.Lys268fs)	SERPINC1 (K220fs +5 more)	Deletion (frameshift variant +1 more)	Hereditary antithrombin deficiency	GLikely pathogenic
Select item 627140	NM_000488.4(SERPINC1):c.797C>A (p.Thr266Lys)	SERPINC1 (T266K +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary antithrombin deficiency	GUncertain significance
Select item 627374	NM_000488.4(SERPINC1):c.771del (p.Leu256_Trp257insTer)	SERPINC1	Deletion (nonsense +1 more)	Hereditary antithrombin deficiency	GLikely pathogenic
Select item 627507	NC_000001.11:g.173911749_173917428del	SERPINC1	Deletion	Hereditary antithrombin deficiency	GLikely pathogenic
Select item 627341	NM_000488.4(SERPINC1):c.592T>C (p.Tyr198His)	SERPINC1 (Y198H +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary antithrombin deficiency	GUncertain significance FDA Recognized database
Select item 627335	NM_000488.4(SERPINC1):c.550del (p.Thr185fs)	SERPINC1 (T185fs +2 more)	Deletion (frameshift variant +1 more)	Hereditary antithrombin deficiency	GLikely pathogenic
Select item 627059	NM_000488.4(SERPINC1):c.400del (p.Gln133_Leu134insTer)	SERPINC1	Deletion (nonsense)	Hereditary antithrombin deficiency	GLikely pathogenic
Select item 18034	NM_000488.4(SERPINC1):c.391C>T (p.Leu131Phe)	SERPINC1 (L131F +2 more)	Single nucleotide variant (missense variant)	Hereditary antithrombin deficiency	GPathogenic FDA Recognized database
Select item 627301	NM_000488.4(SERPINC1):c.322_327del (p.Ile108_Phe109del)	SERPINC1	Deletion (inframe_deletion)	Hereditary antithrombin deficiency	GLikely 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 627017	NM_000488.4(SERPINC1):c.173dup (p.Glu59fs)	SERPINC1 (E11fs +2 more)	Duplication (frameshift variant)	Hereditary antithrombin deficiency	GLikely pathogenic
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 627245	NM_000488.4(SERPINC1):c.155del (p.Met52fs)	SERPINC1 (M4fs +2 more)	Deletion (frameshift variant)	Hereditary antithrombin deficiency	GLikely pathogenic
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 627502	NC_000001.11:g.173916290_173918404del	SERPINC1	Deletion	Hereditary antithrombin deficiency	GLikely pathogenic
Select item 627500	Single allele	SERPINC1	Deletion	Hereditary antithrombin deficiency	GLikely pathogenic

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Items: 28