Related gene-specific medical variations for Gene (Select 5627) - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246924	NC_000003.11:g.(?_93615400)_(93617433_?)del	PROS1	Deletion	Thrombophilia due to protein S deficiency, autosomal recessive	GPathogenic
Select item 3246923	NC_000003.11:g.(?_93595790)_(93596055_?)del	PROS1	Deletion	Thrombophilia due to protein S deficiency, autosomal recessive	GPathogenic
Select item 3246922	NC_000003.11:g.(?_93597987)_(93598178_?)del	PROS1	Deletion	Thrombophilia due to protein S deficiency, autosomal recessive	GPathogenic
Select item 2690684	NM_000313.4(PROS1):c.234+1G>C	PROS1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2683980	NM_000313.4(PROS1):c.263G>A (p.Cys88Tyr)	PROS1 (C120Y +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GPathogenic
Select item 2683976	NM_000313.4(PROS1):c.1085A>G (p.Gln362Arg)	PROS1 (Q362R +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GLikely pathogenic
Select item 2683968	NM_000313.4(PROS1):c.832G>T (p.Asp278Tyr)	PROS1 (D278Y +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GLikely pathogenic
Select item 2627739	NM_000313.4(PROS1):c.346+2T>A	PROS1	Single nucleotide variant (splice donor variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GLikely pathogenic
Select item 2627071	NM_000313.4(PROS1):c.1459G>C (p.Gly487Arg)	PROS1 (G487R +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GLikely pathogenic
Select item 2432858	NM_000313.4(PROS1):c.1579del (p.Val527fs)	PROS1 (V527fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1992367	NM_000313.4(PROS1):c.447G>T (p.Trp149Cys)	PROS1 (W149C +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GLikely pathogenic
Select item 1330284	NM_000313.4(PROS1):c.76+2_76+3del	PROS1	Microsatellite (splice donor variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GPathogenic
Select item 1330283	NM_000313.4(PROS1):c.1870+1G>C	PROS1	Single nucleotide variant (splice donor variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GPathogenic
Select item 1330276	NM_000313.4(PROS1):c.154G>C (p.Gly52Arg)	PROS1 (G52R +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GLikely pathogenic
Select item 1330273	NM_000313.4(PROS1):c.595T>C (p.Cys199Arg)	PROS1 (C199R +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GLikely pathogenic
Select item 1324964	NM_000313.4(PROS1):c.262dup (p.Cys88fs)	PROS1 (C120fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1048665	NM_000313.4(PROS1):c.1252A>T (p.Asn418Tyr)	PROS1 (N418Y +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GLikely pathogenic
Select item 1048664	NM_000313.4(PROS1):c.740G>C (p.Cys247Ser)	PROS1 (C247S +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GPathogenic
Select item 812150	NM_000313.4(PROS1):c.766T>A (p.Cys256Ser)	PROS1 (C288S +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GLikely pathogenic
Select item 442233	GRCh37/hg19 3q11.1(chr3:93519464-93600241)x3	PROS1	Copy number gain	See cases	GLikely benign
Select item 154124	GRCh38/hg38 3q11.1(chr3:93800621-93955268)x3	PROS1	Copy number gain	See cases	GUncertain significance
Select item 29848	PROS1, ARG410TER	PROS1	Variation	Thrombophilia due to protein S deficiency, autosomal recessive	GPathogenic
Select item 29847	PROS1, 1-BP INS, 146A	PROS1	Insertion	Thrombophilia due to protein S deficiency, autosomal recessive	GPathogenic
Select item 13319	PROS1, IVS10DS, G-A, +5	PROS1	Single nucleotide variant	Thrombophilia due to protein S deficiency, autosomal dominant	GPathogenic

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Items: 24