"NIHR Bioresource Rare Diseases, University of Cambridge"[submitter] A - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 627030	NM_000313.4(PROS1):c.1996T>C (p.Cys666Arg)	PROS1 (C666R +1 more)	Single nucleotide variant (missense variant)	Protein S deficiency disease	GPathogenic
Select item 627026	NM_000313.4(PROS1):c.1973A>G (p.His658Arg)	PROS1 (H658R +1 more)	Single nucleotide variant (missense variant)	Protein S deficiency disease	GUncertain significance
Select item 627025	NM_000313.4(PROS1):c.1916G>A (p.Cys639Tyr)	PROS1 (C639Y +1 more)	Single nucleotide variant (missense variant)	Protein S deficiency disease +1 more	GConflicting classifications of pathogenicity
Select item 627024	NM_000313.4(PROS1):c.1908del (p.Phe635_Tyr636insTer)	PROS1	Deletion (nonsense)	Protein S deficiency disease	GPathogenic
Select item 13323	NM_000313.4(PROS1):c.1681C>G (p.Arg561Gly)	PROS1 (R561G +1 more)	Single nucleotide variant (missense variant)	Protein S deficiency disease	GUncertain significance
Select item 627172	NM_000313.4(PROS1):c.1680T>A (p.Tyr560Ter)	PROS1 (Y560* +1 more)	Single nucleotide variant (nonsense)	Protein S deficiency disease +1 more	GPathogenic/Likely pathogenic
Select item 627010	NM_000313.4(PROS1):c.1553C>T (p.Thr518Met)	PROS1 (T518M +1 more)	Single nucleotide variant (missense variant)	Protein S deficiency disease +2 more	GUncertain significance
Select item 627008	NM_000313.4(PROS1):c.1543C>T (p.Arg515Cys)	PROS1 (R515C +1 more)	Single nucleotide variant (missense variant)	Protein S deficiency disease	GLikely pathogenic
Select item 627006	NM_000313.4(PROS1):c.1514del (p.Gly505fs)	PROS1 (G505fs +1 more)	Deletion (frameshift variant)	Protein S deficiency disease	GLikely pathogenic
Select item 576236	NM_000313.4(PROS1):c.1454A>C (p.Tyr485Ser)	PROS1 (Y485S +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 627241	NM_000313.4(PROS1):c.1451A>G (p.Tyr484Cys)	PROS1 (Y484C +1 more)	Single nucleotide variant (missense variant)	Protein S deficiency disease +1 more	GUncertain significance
Select item 627232	NM_000313.4(PROS1):c.1405G>T (p.Glu469Ter)	PROS1 (E469* +1 more)	Single nucleotide variant (nonsense)	Protein S deficiency disease	GLikely pathogenic
Select item 503726	NM_000313.4(PROS1):c.1351C>T (p.Arg451Ter)	PROS1 (R451* +1 more)	Single nucleotide variant (nonsense)	Thrombophilia due to protein S deficiency, autosomal dominant +3 more	GPathogenic/Likely pathogenic
Select item 626924	NM_000313.4(PROS1):c.1284del (p.Gly429fs)	PROS1 (G461fs +1 more)	Deletion (frameshift variant)	Protein S deficiency disease	GLikely pathogenic
Select item 627212	NM_000313.4(PROS1):c.1155+5G>A	PROS1	Single nucleotide variant (intron variant)	Protein S deficiency disease +3 more	GPathogenic/Likely pathogenic
Select item 627208	NM_000313.4(PROS1):c.1126G>A (p.Asp376Asn)	PROS1 (D376N +1 more)	Single nucleotide variant (missense variant)	Protein S deficiency disease	GLikely pathogenic
Select item 626974	NM_000313.4(PROS1):c.1112T>C (p.Ile371Thr)	PROS1 (I371T +1 more)	Single nucleotide variant (missense variant)	Abnormal thrombosis	GUncertain significance
Select item 626965	NM_000313.4(PROS1):c.1079A>G (p.Glu360Gly)	PROS1 (E360G +1 more)	Single nucleotide variant (missense variant)	Protein S deficiency disease +1 more	GConflicting classifications of pathogenicity
Select item 627164	NM_000313.4(PROS1):c.970T>C (p.Ser324Pro)	PROS1 (S324P +1 more)	Single nucleotide variant (missense variant)	Protein S deficiency disease	GLikely pathogenic
Select item 627405	NM_000313.4(PROS1):c.913C>T (p.Gln305Ter)	PROS1 (Q305* +1 more)	Single nucleotide variant (nonsense)	Protein S deficiency disease	GLikely pathogenic
Select item 627385	NM_000313.4(PROS1):c.785del (p.Gly262fs)	PROS1 (G294fs +1 more)	Deletion (frameshift variant)	Protein S deficiency disease	GPathogenic
Select item 161346	NM_000313.4(PROS1):c.698G>A (p.Arg233Lys)	PROS1 (R233K +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal dominant +3 more	GConflicting classifications of pathogenicity
Select item 627089	NM_000313.4(PROS1):c.550del (p.Cys184fs)	PROS1 (C184fs +1 more)	Deletion (frameshift variant)	Protein S deficiency disease	GUncertain significance
Select item 627086	NM_000313.4(PROS1):c.511T>G (p.Cys171Gly)	PROS1 (C171G +1 more)	Single nucleotide variant (missense variant)	Protein S deficiency disease	GUncertain significance
Select item 626959	NM_000313.4(PROS1):c.353C>T (p.Pro118Leu)	PROS1 (P118L +1 more)	Single nucleotide variant (missense variant)	Protein S deficiency disease	GLikely pathogenic
Select item 161354	NM_000313.4(PROS1):c.284G>A (p.Gly95Glu)	PROS1 (G95E +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 215991	NM_000313.4(PROS1):c.233C>T (p.Thr78Met)	PROS1 (T78M +1 more)	Single nucleotide variant (missense variant)	Protein S deficiency disease +4 more	GConflicting classifications of pathogenicity
Select item 627000	NM_000313.4(PROS1):c.148A>G (p.Lys50Glu)	PROS1 (K50E +1 more)	Single nucleotide variant (missense variant)	Abnormal bleeding +2 more	GUncertain significance
Select item 626998	NM_000313.4(PROS1):c.137T>C (p.Leu46Pro)	PROS1 (L46P +1 more)	Single nucleotide variant (missense variant)	Protein S deficiency disease	GUncertain significance
Select item 627219	NM_000313.4(PROS1):c.128A>G (p.Asn43Ser)	PROS1 (N43S +1 more)	Single nucleotide variant (missense variant)	Thromboembolism +1 more	GUncertain significance
Select item 346893	NM_000313.4(PROS1):c.119G>T (p.Arg40Leu)	PROS1 (R40L +1 more)	Single nucleotide variant (missense variant)	Protein S deficiency disease +3 more	GConflicting classifications of pathogenicity
Select item 627134	NM_000313.4(PROS1):c.77-1346A>G	PROS1 (I41V)	Single nucleotide variant (missense variant +1 more)	Thromboembolism	GUncertain significance
Select item 215729	NM_000313.4(PROS1):c.76+7A>G	PROS1	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 627080	NM_000313.4(PROS1):c.49dup (p.Leu17fs)	PROS1 (L17fs)	Duplication (frameshift variant)	Thrombophilia due to protein S deficiency, autosomal dominant +1 more	GLikely pathogenic
Select item 626921	NM_000313.3(PROS1):c.-168C>T	PROS1	Single nucleotide variant	Protein S deficiency disease	GLikely pathogenic
Select item 813267	Single allele	ARL13B, DHFR2 +3 more	Deletion	Protein S deficiency disease +1 more	GLikely pathogenic
Select item 627511	Single allele	PROS1	Deletion	Protein S deficiency disease	GLikely pathogenic

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Items: 37