C4317320[trait identifier] AND "NIHR Bioresource Rare Diseases, Univer - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 654	NM_000130.5(F5):c.6304C>T (p.Arg2102Cys)	F5 (R2102C)	Single nucleotide variant (missense variant)	Factor V deficiency	GLikely pathogenic
Select item 627349	NM_000130.5(F5):c.6179G>A (p.Gly2060Asp)	F5 (G2060D)	Single nucleotide variant (missense variant)	Factor V deficiency +2 more	GConflicting classifications of pathogenicity
Select item 627181	NM_000130.5(F5):c.5408A>G (p.His1803Arg)	F5 (H1803R)	Single nucleotide variant (missense variant)	Factor V deficiency +1 more	GConflicting classifications of pathogenicity
Select item 627332	NM_000130.5(F5):c.5365C>T (p.Arg1789Ter)	F5 (R1789*)	Single nucleotide variant (nonsense)	Factor V deficiency	GPathogenic
Select item 627318	NM_000130.5(F5):c.4744T>A (p.Tyr1582Asn)	F5 (Y1582N)	Single nucleotide variant (missense variant)	Factor V deficiency	GUncertain significance
Select item 627300	NM_000130.5(F5):c.3170_3174del (p.Asn1057fs)	F5 (N1057fs)	Deletion (frameshift variant)	Factor V deficiency	GLikely pathogenic
Select item 627051	NM_000130.5(F5):c.2862del (p.Ser955fs)	F5 (S955fs)	Deletion (frameshift variant)	Congenital factor V deficiency +1 more	GPathogenic/Likely pathogenic
Select item 627287	NM_000130.5(F5):c.2539del (p.Ile847fs)	F5 (I847fs)	Deletion (frameshift variant)	Congenital factor V deficiency +1 more	GPathogenic/Likely pathogenic
Select item 627029	NM_000130.5(F5):c.1975G>A (p.Gly659Arg)	F5 (G659R)	Single nucleotide variant (missense variant)	Factor V deficiency	GUncertain significance
Select item 627264	NM_000130.5(F5):c.1830_1831dup (p.His611fs)	F5 (H611fs)	Duplication (frameshift variant)	Factor V deficiency +1 more	GPathogenic/Likely pathogenic
Select item 627013	NM_000130.5(F5):c.1671G>C (p.Trp557Cys)	F5 (W557C)	Single nucleotide variant (missense variant)	Factor V deficiency	GLikely pathogenic
Select item 627004	NM_000130.5(F5):c.1498T>G (p.Cys500Gly)	F5 (C500G)	Single nucleotide variant (missense variant)	Congenital factor V deficiency +1 more	GConflicting classifications of pathogenicity
Select item 627229	NM_000130.5(F5):c.1321C>T (p.Arg441Cys)	F5 (R441C)	Single nucleotide variant (missense variant)	Thrombophilia due to activated protein C resistance +1 more	GConflicting classifications of pathogenicity
Select item 627222	NM_000130.5(F5):c.1297-2A>G	F5	Single nucleotide variant (splice acceptor variant)	Factor V deficiency	GLikely pathogenic
Select item 627209	NM_000130.5(F5):c.1128G>T (p.Arg376Ser)	F5 (R376S)	Single nucleotide variant (missense variant)	Thromboembolism +6 more	GUncertain significance
Select item 627404	NM_000130.5(F5):c.911G>A (p.Gly304Glu)	F5 (G304E)	Single nucleotide variant (missense variant)	Congenital factor V deficiency +1 more	GLikely pathogenic
Select item 627377	NM_000130.5(F5):c.773T>C (p.Leu258Pro)	F5 (L258P)	Single nucleotide variant (missense variant)	Factor V deficiency	GUncertain significance
Select item 626961	NM_000130.5(F5):c.358A>G (p.Ser120Gly)	F5 (S120G)	Single nucleotide variant (missense variant)	Factor V deficiency	GUncertain significance
Select item 626955	NM_000130.5(F5):c.333C>A (p.Ser111Arg)	F5 (S111R)	Single nucleotide variant (missense variant)	Factor V deficiency	GUncertain significance