"Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 255211	NM_000130.5(F5):c.5419+12A>G	F5	Single nucleotide variant (intron variant)	Congenital factor V deficiency +5 more	GBenign/Likely benign
Select item 255210	NM_000130.5(F5):c.5290A>G (p.Met1764Val)	F5 (M1764V)	Single nucleotide variant (missense variant)	Congenital factor V deficiency +3 more	GConflicting classifications of pathogenicity
Select item 255206	NM_000130.5(F5):c.3948C>T (p.Leu1316=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency +6 more	GBenign/Likely benign
Select item 255204	NM_000130.5(F5):c.3804T>C (p.Ser1268=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency +6 more	GBenign/Likely benign
Select item 255202	NM_000130.5(F5):c.2773A>G (p.Lys925Glu)	F5 (K925E)	Single nucleotide variant (missense variant)	Congenital factor V deficiency +6 more	GBenign/Likely benign
Select item 255201	NM_000130.5(F5):c.2594A>G (p.His865Arg)	F5 (H865R)	Single nucleotide variant (missense variant)	Congenital factor V deficiency +6 more	GBenign/Likely benign
Select item 255200	NM_000130.5(F5):c.2573A>G (p.Lys858Arg)	F5 (K858R)	Single nucleotide variant (missense variant)	Congenital factor V deficiency +3 more	GConflicting classifications of pathogenicity
Select item 255196	NM_000130.5(F5):c.2301A>G (p.Ser767=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency +6 more	GBenign/Likely benign
Select item 255194	NM_000130.5(F5):c.2235T>C (p.Asn745=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency +6 more	GBenign/Likely benign
Select item 255193	NM_000130.5(F5):c.2208C>T (p.Ile736=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency +6 more	GBenign/Likely benign
Select item 255197	NM_000130.5(F5):c.237A>G (p.Gln79=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency +6 more	GBenign/Likely benign