"GeneDx"[submitter] AND "PROS1"[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ABHD10, ABI3BP +431 more	Copy number loss	See cases	GPathogenic
Select item 255811	NM_000313.4(PROS1):c.2001A>G (p.Pro667=)	PROS1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 2580615	NM_000313.4(PROS1):c.1990C>T (p.His664Tyr)	PROS1 (H664Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1290540	NM_000313.4(PROS1):c.1871-263C>T	PROS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181602	NM_000313.4(PROS1):c.1870+195A>T	PROS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1302468	NM_000313.4(PROS1):c.1865T>C (p.Leu622Pro)	PROS1 (L622P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312442	NM_000313.4(PROS1):c.1811T>G (p.Leu604Arg)	PROS1 (L604R +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive +1 more	GUncertain significance
Select item 2446142	NM_000313.4(PROS1):c.1644+4A>T	PROS1	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 13316	NM_000313.4(PROS1):c.1501T>C (p.Ser501Pro)	PROS1 (S501P +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal dominant +4 more	GConflicting classifications of pathogenicity
Select item 450625	NM_000313.4(PROS1):c.1445G>A (p.Gly482Asp)	PROS1 (G482D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1288209	NM_000313.4(PROS1):c.1323+54T>C	PROS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 523822	NM_000313.4(PROS1):c.1204G>T (p.Glu402Ter)	PROS1 (E402* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 429810	NM_000313.4(PROS1):c.1156-1G>A	PROS1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
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 2446255	NM_000313.4(PROS1):c.716A>T (p.Lys239Met)	PROS1 (K239M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1209462	NM_000313.4(PROS1):c.470A>G (p.Asp157Gly)	PROS1 (D157G +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 1186975	NM_000313.4(PROS1):c.260-89T>C	PROS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1289099	NM_000313.4(PROS1):c.260-235G>A	PROS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222774	NM_000313.4(PROS1):c.234+169G>A	PROS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225558	NM_000313.4(PROS1):c.234+127T>A	PROS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186336	NM_000313.4(PROS1):c.234+113T>G	PROS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219906	NM_000313.4(PROS1):c.234+72T>C	PROS1	Single nucleotide variant (intron variant)	Thrombophilia due to protein S deficiency, autosomal dominant +1 more	GConflicting classifications of pathogenicity
Select item 581502	NM_000313.4(PROS1):c.77-1G>C	PROS1	Single nucleotide variant (splice acceptor variant)	Thrombophilia due to protein S deficiency, autosomal recessive +3 more	GPathogenic
Select item 1264572	NM_000313.4(PROS1):c.77-145G>A	PROS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2136244	NM_000313.4(PROS1):c.24C>G (p.Cys8Trp)	PROS1 (C8W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 902481	NC_000003.12:g.93973939G>C	PROS1	Single nucleotide variant	Thrombophilia due to protein S deficiency, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 253850	GRCh37/hg19 3q11.1(chr3:93617407-93747377)x3	ARL13B, PROS1 +1 more	Copy number gain	See cases	GUncertain significance
Select item 253784	GRCh37/hg19 3q11.1(chr3:93592858-93747377)x3	ARL13B, STX19 +1 more	Copy number gain	See cases	GUncertain significance

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Items: 30