"OMIM"[submitter] AND "F2"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 627289	NM_000506.5(F2):c.260A>G (p.Tyr87Cys)	F2 (Y87C)	Single nucleotide variant (missense variant)	Coagulation factor deficiency syndrome	GLikely pathogenic
Select item 13309	NM_000506.5(F2):c.462_463insT (p.Asn155Ter)	F2 (N155*)	Insertion (nonsense)	Congenital prothrombin deficiency	GPathogenic
Select item 13302	NM_000506.3(F2):c.598G>A (p.Glu200Lys)	F2 (E200K)	Single nucleotide variant (missense variant)	Cerebral palsy +3 more	GConflicting classifications of pathogenicity; risk factor
Select item 13303	NM_000506.3(F2):c.940C>T (p.Arg314Cys)	F2 (R314C)	Single nucleotide variant (missense variant)	Congenital prothrombin deficiency	GPathogenic
Select item 13311	NM_000506.3(F2):c.1027G>A (p.Glu343Lys)	F2 (E343K)	Single nucleotide variant (missense variant)	Congenital prothrombin deficiency	GPathogenic
Select item 13312	NM_000506.3(F2):c.1054G>A (p.Glu352Lys)	F2 (E352K)	Single nucleotide variant (missense variant)	Congenital prothrombin deficiency	GPathogenic
Select item 13307	NM_000506.3(F2):c.1139T>C (p.Met380Thr)	F2 (M380T)	Single nucleotide variant (missense variant)	Congenital prothrombin deficiency	GPathogenic
Select item 13305	NM_000506.3(F2):c.1273C>T (p.Arg425Cys)	F2 (R425C)	Single nucleotide variant (missense variant)	Congenital prothrombin deficiency	GLikely pathogenic
Select item 13313	NM_000506.5(F2):c.1274G>A (p.Arg425His)	F2 (R425H)	Single nucleotide variant (missense variant)	Congenital prothrombin deficiency	GPathogenic
Select item 13308	NM_000506.3(F2):c.1292G>A (p.Arg431His)	F2 (R431H)	Single nucleotide variant (missense variant)	DYSPROTHROMBINEMIA PROTHROMBIN HIMI-II	GPathogenic
Select item 13304	NM_000506.3(F2):c.1381C>T (p.Arg461Trp)	F2 (R461W)	Single nucleotide variant (missense variant)	Congenital prothrombin deficiency	GPathogenic
Select item 13314	NM_000506.3(F2):c.1785C>G (p.Asp595Glu)	F2 (D595E)	Single nucleotide variant (missense variant)	Congenital prothrombin deficiency	GPathogenic
Select item 31922	NM_000506.5(F2):c.1787G>T (p.Arg596Leu)	F2 (R596L)	Single nucleotide variant (missense variant)	Thrombophilia due to thrombin defect	GPathogenic
Select item 13306	NM_000506.3(F2):c.1802G>T (p.Gly601Val)	F2 (G601V)	Single nucleotide variant (missense variant)	Congenital prothrombin deficiency	GPathogenic
Select item 13310	NM_000506.5(F2):c.*97G>A	F2	Single nucleotide variant	not provided +4 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance; risk factor