"Ambry Genetics"[submitter] AND "F2"[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2444550	NM_000506.5(F2):c.103C>T (p.Arg35Trp)	F2 (R35W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3276947	NM_000506.5(F2):c.104G>A (p.Arg35Gln)	F2 (R35Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1777888	NM_000506.5(F2):c.167T>C (p.Leu56Pro)	F2 (L56P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 878742	NM_000506.5(F2):c.191C>T (p.Thr64Met)	F2 (T64M)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2588649	NM_000506.5(F2):c.233C>T (p.Thr78Met)	F2 (T78M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1796814	NM_000506.5(F2):c.284C>T (p.Thr95Met)	F2 (T95M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 878744	NM_000506.5(F2):c.285G>A (p.Thr95=)	F2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2584872	NM_000506.5(F2):c.350G>A (p.Arg117Gln)	F2 (R117Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3091422	NM_000506.5(F2):c.370C>T (p.Arg124Trp)	F2 (R124W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2567223	NM_000506.5(F2):c.432C>T (p.Ser144=)	F2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1740278	NM_000506.5(F2):c.439C>G (p.His147Asp)	F2 (H147D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334519	NM_000506.5(F2):c.449C>T (p.Ala150Val)	F2 (A150V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276954	NM_000506.5(F2):c.457C>A (p.Gln153Lys)	F2 (Q153K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 756801	NM_000506.5(F2):c.495G>A (p.Thr165=)	F2	Single nucleotide variant (synonymous variant)	Thrombophilia due to thrombin defect +3 more	GConflicting classifications of pathogenicity
Select item 2488512	NM_000506.5(F2):c.500C>T (p.Pro167Leu)	F2 (P167L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593528	NM_000506.5(F2):c.517G>C (p.Asp173His)	F2 (D173H)	Single nucleotide variant (missense variant)	Congenital prothrombin deficiency +1 more	GUncertain significance
Select item 1746997	NM_000506.5(F2):c.534G>A (p.Arg178=)	F2	Single nucleotide variant (synonymous variant)	Congenital prothrombin deficiency +1 more	GLikely benign
Select item 3091423	NM_000506.5(F2):c.564G>C (p.Gln188His)	F2 (Q188H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276953	NM_000506.5(F2):c.589C>A (p.Pro197Thr)	F2 (P197T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091424	NM_000506.5(F2):c.629T>C (p.Leu210Ser)	F2 (L210S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1809637	NM_000506.5(F2):c.650G>A (p.Arg217Gln)	F2 (R217Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2567222	NM_000506.5(F2):c.669G>A (p.Gly223=)	F2	Single nucleotide variant (synonymous variant)	Congenital prothrombin deficiency +1 more	GLikely benign
Select item 2441322	NM_000506.5(F2):c.670C>T (p.Arg224Cys)	F2 (R224C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3276949	NM_000506.5(F2):c.671G>A (p.Arg224His)	F2 (R224H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2587185	NM_000506.5(F2):c.695T>A (p.Leu232His)	F2 (L232H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1756516	NM_000506.5(F2):c.699C>T (p.Pro233=)	F2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1758005	NM_000506.5(F2):c.726C>T (p.Ala242=)	F2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3276956	NM_000506.5(F2):c.772G>A (p.Val258Met)	F2 (V258M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 304810	NM_000506.5(F2):c.798C>T (p.Asp266=)	F2	Single nucleotide variant (synonymous variant)	Congenital prothrombin deficiency +3 more	GConflicting classifications of pathogenicity
Select item 708725	NM_000506.5(F2):c.843C>T (p.Gly281=)	F2	Single nucleotide variant (synonymous variant)	Thrombophilia due to thrombin defect +2 more	GConflicting classifications of pathogenicity
Select item 2273425	NM_000506.5(F2):c.940C>A (p.Arg314Ser)	F2 (R314S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1768675	NM_000506.5(F2):c.993G>A (p.Ser331=)	F2	Single nucleotide variant (synonymous variant)	Congenital prothrombin deficiency +1 more	GLikely benign
Select item 3276945	NM_000506.5(F2):c.1066C>T (p.Leu356=)	F2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2401242	NM_000506.5(F2):c.1103C>T (p.Ser368Leu)	F2 (S368L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1749516	NM_000506.5(F2):c.1209C>T (p.Thr403=)	F2	Single nucleotide variant (synonymous variant)	Congenital prothrombin deficiency +1 more	GLikely benign
Select item 1761478	NM_000506.5(F2):c.1254C>T (p.Thr418=)	F2	Single nucleotide variant (synonymous variant)	Congenital prothrombin deficiency +1 more	GLikely benign
Select item 2558440	NM_000506.5(F2):c.1307G>A (p.Arg436Gln)	F2 (R436Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276955	NM_000506.5(F2):c.1309A>T (p.Asn437Tyr)	F2 (N437Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538209	NM_000506.5(F2):c.1355G>A (p.Arg452Lys)	F2 (R452K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276950	NM_000506.5(F2):c.1396A>T (p.Met466Leu)	F2 (M466L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2488062	NM_000506.5(F2):c.1411C>A (p.Pro471Thr)	F2 (P471T)	Single nucleotide variant (missense variant)	Congenital prothrombin deficiency +1 more	GUncertain significance
Select item 1772370	NM_000506.5(F2):c.1425T>C (p.Ser475=)	F2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 304816	NM_000506.5(F2):c.1464G>A (p.Thr488=)	F2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2261240	NM_000506.5(F2):c.1473-3_1473-2del	F2	Deletion (splice acceptor variant)	Inborn genetic diseases	GUncertain significance
Select item 3276946	NM_000506.5(F2):c.1528A>C (p.Thr510Pro)	F2 (T510P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091420	NM_000506.5(F2):c.1535C>T (p.Thr512Ile)	F2 (T512I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275166	NM_000506.5(F2):c.1543G>A (p.Val515Ile)	F2 (V515I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1775708	NM_000506.5(F2):c.1581C>T (p.Asn527=)	F2	Single nucleotide variant (synonymous variant)	Congenital prothrombin deficiency +1 more	GLikely benign
Select item 2555252	NM_000506.5(F2):c.1603G>A (p.Val535Ile)	F2 (V535I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 986165	NM_000506.5(F2):c.1621C>T (p.Arg541Trp)	F2 (R541W)	Single nucleotide variant (missense variant)	Thrombophilia due to thrombin defect +1 more	GConflicting classifications of pathogenicity
Select item 1778483	NM_000506.5(F2):c.1707G>A (p.Gly569=)	F2	Single nucleotide variant (synonymous variant)	Congenital prothrombin deficiency +1 more	GLikely benign
Select item 1778641	NM_000506.5(F2):c.1716T>C (p.Phe572=)	F2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3231942	NM_000506.5(F2):c.1732T>C (p.Phe578Leu)	F2 (F578L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3276948	NM_000506.5(F2):c.1789G>T (p.Asp597Tyr)	F2 (D597Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091421	NM_000506.5(F2):c.1823G>A (p.Arg608His)	F2 (R608H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 256314	NM_000506.5(F2):c.1824C>T (p.Arg608=)	F2	Single nucleotide variant (synonymous variant)	Congenital prothrombin deficiency +4 more	GConflicting classifications of pathogenicity
Select item 779195	NM_000506.5(F2):c.1857G>A (p.Gln619=)	F2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign

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Items: 57