Related gene-specific medical variations for Gene (Select 2147) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244539	NC_000011.9:g.(?_46746328)_(46748347_?)del	F2	Deletion	Congenital prothrombin deficiency	GLikely pathogenic
Select item 2683974	NM_000506.5(F2):c.1088G>A (p.Arg363His)	F2 (R363H)	Single nucleotide variant (missense variant)	Congenital prothrombin deficiency	GPathogenic
Select item 2582746	NM_000506.5(F2):c.799G>T (p.Gly267Trp)	F2 (G267W)	Single nucleotide variant (missense variant)	Thrombophilia due to thrombin defect	GUncertain significance
Select item 2441323	NM_000506.5(F2):c.118C>T (p.Arg40Trp)	F2 (R40W)	Single nucleotide variant (missense variant)	Congenital prothrombin deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1676511	NM_000506.5(F2):c.533G>T (p.Arg178Met)	F2 (R178M)	Single nucleotide variant	Congenital prothrombin deficiency +1 more	GUncertain significance
Select item 1098523	NM_000506.5(F2):c.1496G>A (p.Gly499Glu)	F2 (G499E)	Single nucleotide variant (missense variant)	Congenital prothrombin deficiency	GLikely pathogenic
Select item 1098522	NM_000506.5(F2):c.1270G>A (p.Val424Met)	F2 (V424M)	Single nucleotide variant (missense variant)	Congenital prothrombin deficiency	GLikely pathogenic
Select item 1098521	NM_000506.5(F2):c.1131-5C>T	F2	Single nucleotide variant (intron variant)	Congenital prothrombin deficiency	GUncertain significance
Select item 1098520	NM_000506.5(F2):c.1070A>G (p.Glu357Gly)	F2 (E357G)	Single nucleotide variant (missense variant)	Congenital prothrombin deficiency	GLikely pathogenic
Select item 1098519	NM_000506.5(F2):c.995G>C (p.Gly332Ala)	F2 (G332A)	Single nucleotide variant (missense variant)	Congenital prothrombin deficiency	GLikely pathogenic
Select item 1098518	NM_000506.5(F2):c.954T>G (p.Ser318Arg)	F2 (S318R)	Single nucleotide variant (missense variant)	Congenital prothrombin deficiency	GUncertain significance
Select item 1098517	NM_000506.5(F2):c.607A>G (p.Ser203Gly)	F2 (S203G)	Single nucleotide variant (missense variant)	Congenital prothrombin deficiency	GUncertain significance
Select item 256311	NM_000506.3(F2):c.*292G>A	F2	Single nucleotide variant	not specified	GLikely benign
Select item 161469	NM_000506.5(F2):c.734del (p.Leu245fs)	F2 (L245fs)	Deletion (frameshift variant)	Malignant tumor of prostate	GUncertain significance
Select item 143995	NM_000506.5(F2):c.*96C>T	F2	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to thrombin defect	Gnot provided