C3281092[trait identifier] AND "Labcorp Genetics (formerly Invitae), L - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 472995	NC_000003.12:g.(?_93874239)_(94053268_?)del	LOC129937098, LOC129937099 +4 more	Deletion	Thrombophilia due to protein S deficiency, autosomal recessive	GPathogenic
Select item 870244	NM_000313.4(PROS1):c.1_2insSVAelement	PROS1	Insertion	Thrombophilia due to protein S deficiency, autosomal recessive	GUncertain significance
Select item 581192	NM_000313.4(PROS1):c.2018C>A (p.Thr673Lys)	PROS1 (T705K +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GUncertain significance
Select item 1523041	NM_000313.4(PROS1):c.2000_2001inv (p.Pro667Leu)	PROS1 (P699L +1 more)	Inversion (missense variant)	PROS1-related disorder +1 more	GConflicting classifications of pathogenicity
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 567962	NM_000313.4(PROS1):c.1998T>A (p.Cys666Ter)	PROS1 (C698* +1 more)	Single nucleotide variant (nonsense)	Thrombophilia due to protein S deficiency, autosomal recessive	GPathogenic
Select item 2734544	NM_000313.4(PROS1):c.1994C>T (p.Ser665Leu)	PROS1 (S665L +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GUncertain significance
Select item 472998	NM_000313.4(PROS1):c.1991dup (p.His664fs)	PROS1 (H664fs +1 more)	Duplication (frameshift variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GPathogenic
Select item 1017210	NM_000313.4(PROS1):c.1981A>G (p.Ile661Val)	PROS1 (I661V +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive +1 more	GUncertain significance
Select item 1999459	NM_000313.4(PROS1):c.1977del (p.Asn659fs)	PROS1 (N659fs +1 more)	Deletion (frameshift variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GPathogenic
Select item 640936	NM_000313.4(PROS1):c.1956T>G (p.Asp652Glu)	PROS1 (D652E +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GUncertain significance
Select item 2822331	NM_000313.4(PROS1):c.1938T>A (p.Gly646=)	PROS1	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GLikely benign
Select item 1113086	NM_000313.4(PROS1):c.1938T>C (p.Gly646=)	PROS1	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GLikely benign
Select item 1371590	NM_000313.4(PROS1):c.1936G>T (p.Gly646Cys)	PROS1 (G678C +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GUncertain significance
Select item 941623	NM_000313.4(PROS1):c.1919T>C (p.Met640Thr)	PROS1 (M640T +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GPathogenic
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 416409	NM_000313.4(PROS1):c.1902C>T (p.Ala634=)	PROS1	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GLikely benign
Select item 1476728	NM_000313.4(PROS1):c.1891C>T (p.Pro631Ser)	PROS1 (P663S +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GUncertain significance
Select item 3007153	NM_000313.4(PROS1):c.1878A>G (p.Pro626=)	PROS1	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GLikely benign
Select item 1406689	NM_000313.4(PROS1):c.1871-1G>A	PROS1	Single nucleotide variant (splice acceptor variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GPathogenic
Select item 1068259	NM_000313.4(PROS1):c.1871-2A>G	PROS1	Single nucleotide variant (splice acceptor variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GPathogenic
Select item 801989	NM_000313.4(PROS1):c.1871-14T>G	PROS1	Single nucleotide variant (intron variant)	Thrombophilia due to protein S deficiency, autosomal recessive +1 more	GUncertain significance
Select item 2709649	NM_000313.4(PROS1):c.1871-18A>G	PROS1	Single nucleotide variant (intron variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GLikely benign
Select item 2986573	NM_000313.4(PROS1):c.1870+13T>C	PROS1	Single nucleotide variant (intron variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GLikely benign
Select item 2886068	NM_000313.4(PROS1):c.1866T>C (p.Leu622=)	PROS1	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GLikely benign
Select item 1623125	NM_000313.4(PROS1):c.1863C>T (p.Gly621=)	PROS1	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GLikely benign
Select item 2027054	NM_000313.4(PROS1):c.1857G>A (p.Leu619=)	PROS1	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GLikely benign
Select item 1719598	NM_000313.4(PROS1):c.1856T>C (p.Leu619Pro)	PROS1 (L619P +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GUncertain significance
Select item 1488865	NM_000313.4(PROS1):c.1849A>G (p.Thr617Ala)	PROS1 (T649A +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GUncertain significance
Select item 2853093	NM_000313.4(PROS1):c.1847C>T (p.Ala616Val)	PROS1 (A616V +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GUncertain significance
Select item 2890189	NM_000313.4(PROS1):c.1840A>G (p.Lys614Glu)	PROS1 (K646E +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GUncertain significance
Select item 1503626	NM_000313.4(PROS1):c.1832T>C (p.Met611Thr)	PROS1 (M611T +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 220400	NM_000313.4(PROS1):c.1816G>A (p.Val606Ile)	PROS1 (V638I +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive +1 more	GUncertain significance
Select item 1122256	NM_000313.4(PROS1):c.1815C>T (p.Ala605=)	PROS1	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GLikely benign
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 2762840	NM_000313.4(PROS1):c.1802A>G (p.Gln601Arg)	PROS1 (Q601R +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GUncertain significance
Select item 161344	NM_000313.4(PROS1):c.1762A>G (p.Thr588Ala)	PROS1 (T588A +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal dominant +1 more	GConflicting classifications of pathogenicity
Select item 900728	NM_000313.4(PROS1):c.1752G>A (p.Leu584=)	PROS1	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein S deficiency, autosomal dominant +1 more	GConflicting classifications of pathogenicity
Select item 161349	NM_000313.4(PROS1):c.1747A>C (p.Asn583His)	PROS1 (N583H +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive +2 more	GUncertain significance
Select item 1037863	NM_000313.4(PROS1):c.1727A>T (p.Glu576Val)	PROS1 (E608V +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GUncertain significance
Select item 2744826	NM_000313.4(PROS1):c.1726G>T (p.Glu576Ter)	PROS1 (E576* +1 more)	Single nucleotide variant (nonsense)	Thrombophilia due to protein S deficiency, autosomal recessive	GPathogenic
Select item 2905156	NM_000313.4(PROS1):c.1724T>C (p.Leu575Pro)	PROS1 (L575P +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GUncertain significance
Select item 472997	NM_000313.4(PROS1):c.1713A>G (p.Gln571=)	PROS1	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GBenign
Select item 900729	NM_000313.4(PROS1):c.1708G>A (p.Asp570Asn)	PROS1 (D602N +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal dominant +1 more	GUncertain significance
Select item 697493	NM_000313.4(PROS1):c.1707C>T (p.Ser569=)	PROS1	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein S deficiency, autosomal dominant +1 more	GConflicting classifications of pathogenicity
Select item 2203404	NM_000313.4(PROS1):c.1703G>A (p.Cys568Tyr)	PROS1 (C568Y +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GUncertain significance
Select item 1491043	NM_000313.4(PROS1):c.1684A>T (p.Ile562Leu)	PROS1 (I594L +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GLikely pathogenic
Select item 1978833	NM_000313.4(PROS1):c.1682G>A (p.Arg561Gln)	PROS1 (R561Q +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GUncertain significance
Select item 219837	NM_000313.4(PROS1):c.1681C>T (p.Arg561Trp)	PROS1 (R593W +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GPathogenic
Select item 627172	NM_000313.4(PROS1):c.1680T>A (p.Tyr560Ter)	PROS1 (Y560* +1 more)	Single nucleotide variant (nonsense)	Thrombophilia due to protein S deficiency, autosomal recessive +2 more	GPathogenic/Likely pathogenic
Select item 2912621	NM_000313.4(PROS1):c.1654T>C (p.Leu552=)	PROS1	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GLikely benign
Select item 2418049	NM_000313.4(PROS1):c.1645-8C>T	PROS1	Single nucleotide variant (intron variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GLikely benign
Select item 2834852	NM_000313.4(PROS1):c.1645-14G>A	PROS1	Single nucleotide variant (intron variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GLikely benign
Select item 2739102	NM_000313.4(PROS1):c.1644+18C>A	PROS1	Single nucleotide variant (intron variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GLikely benign
Select item 472996	NM_000313.4(PROS1):c.1644+2_1644+3insTT	PROS1	Insertion (splice donor variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GUncertain significance
Select item 417527	NC_000003.12:g.(?_93879163)_(93879314_?)del	PROS1	Deletion	Thrombophilia due to protein S deficiency, autosomal recessive	GPathogenic
Select item 1100062	NM_000313.4(PROS1):c.1641A>G (p.Ser547=)	PROS1	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GLikely benign
Select item 1570393	NM_000313.4(PROS1):c.1629C>T (p.Thr543=)	PROS1	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GLikely benign
Select item 2917136	NM_000313.4(PROS1):c.1617G>T (p.Leu539Phe)	PROS1 (L539F +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GUncertain significance
Select item 2919255	NM_000313.4(PROS1):c.1608T>C (p.Ala536=)	PROS1	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GLikely benign
Select item 1145516	NM_000313.4(PROS1):c.1599G>A (p.Val533=)	PROS1	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GLikely benign
Select item 161350	NM_000313.4(PROS1):c.1594A>G (p.Thr532Ala)	PROS1 (T532A +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive +1 more	GUncertain significance
Select item 1081355	NM_000313.4(PROS1):c.1566T>A (p.Val522=)	PROS1	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GLikely benign
Select item 1467608	NM_000313.4(PROS1):c.1565T>A (p.Val522Asp)	PROS1 (V554D +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GUncertain significance
Select item 1015333	NM_000313.4(PROS1):c.1564G>A (p.Val522Ile)	PROS1 (V522I +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GUncertain significance
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 2203405	NM_000313.4(PROS1):c.1544G>C (p.Arg515Pro)	PROS1 (R547P +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GLikely pathogenic
Select item 161343	NM_000313.4(PROS1):c.1528G>A (p.Val510Met)	PROS1 (V510M +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 1900051	NM_000313.4(PROS1):c.1527T>C (p.Asn509=)	PROS1	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GLikely benign
Select item 2203406	NM_000313.4(PROS1):c.1518G>A (p.Trp506Ter)	PROS1 (W506* +1 more)	Single nucleotide variant (nonsense)	Thrombophilia due to protein S deficiency, autosomal recessive	GPathogenic
Select item 540212	NM_000313.4(PROS1):c.1506T>C (p.Ser502=)	PROS1	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GLikely benign
Select item 951427	NM_000313.4(PROS1):c.1501T>G (p.Ser501Ala)	PROS1 (S501A +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive +1 more	GUncertain significance
Select item 13316	NM_000313.4(PROS1):c.1501T>C (p.Ser501Pro)	PROS1 (S501P +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +6 more	GConflicting classifications of pathogenicity
Select item 1953332	NM_000313.4(PROS1):c.1500A>G (p.Val500=)	PROS1	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GLikely benign
Select item 346881	NM_000313.4(PROS1):c.1494T>C (p.Asn498=)	PROS1	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein S deficiency, autosomal recessive +1 more	GBenign/Likely benign
Select item 2983660	NM_000313.4(PROS1):c.1493-9T>C	PROS1	Single nucleotide variant (intron variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GLikely benign
Select item 2137861	NM_000313.4(PROS1):c.1493-17T>C	PROS1	Single nucleotide variant (intron variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GLikely benign
Select item 2734545	NM_000313.4(PROS1):c.1490A>G (p.Tyr497Cys)	PROS1 (Y497C +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GUncertain significance
Select item 839380	NM_000313.4(PROS1):c.1479T>A (p.Phe493Leu)	PROS1 (F525L +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GUncertain significance
Select item 2734546	NM_000313.4(PROS1):c.1465G>T (p.Gly489Ter)	PROS1 (G489* +1 more)	Single nucleotide variant (nonsense)	Thrombophilia due to protein S deficiency, autosomal recessive	GPathogenic
Select item 1077700	NM_000313.4(PROS1):c.1464T>C (p.Ser488=)	PROS1	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GLikely benign
Select item 1063105	NM_000313.4(PROS1):c.1460G>A (p.Gly487Asp)	PROS1 (G487D +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GUncertain significance
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 696478	NM_000313.4(PROS1):c.1446C>T (p.Gly482=)	PROS1	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein S deficiency, autosomal dominant +2 more	GBenign/Likely benign
Select item 2883998	NM_000313.4(PROS1):c.1445G>T (p.Gly482Val)	PROS1 (G514V +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GUncertain significance
Select item 2734547	NM_000313.4(PROS1):c.1424G>T (p.Cys475Phe)	PROS1 (C507F +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GPathogenic
Select item 851947	NM_000313.4(PROS1):c.1424G>A (p.Cys475Tyr)	PROS1 (C475Y +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GUncertain significance
Select item 2161192	NM_000313.4(PROS1):c.1398T>C (p.Ile466=)	PROS1	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GLikely benign
Select item 346882	NM_000313.4(PROS1):c.1377A>G (p.Gly459=)	PROS1	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein S deficiency, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 2729314	NM_000313.4(PROS1):c.1352G>A (p.Arg451Gln)	PROS1 (R451Q +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive	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 recessive +3 more	GPathogenic/Likely pathogenic
Select item 2734548	NM_000313.4(PROS1):c.1345T>A (p.Cys449Ser)	PROS1 (C481S +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GUncertain significance
Select item 1598415	NM_000313.4(PROS1):c.1335T>C (p.Arg445=)	PROS1	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GLikely benign
Select item 1158234	NM_000313.4(PROS1):c.1335T>G (p.Arg445=)	PROS1	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GLikely benign
Select item 2060676	NM_000313.4(PROS1):c.1334G>A (p.Arg445His)	PROS1 (R477H +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GUncertain significance
Select item 2170788	NM_000313.4(PROS1):c.1333C>T (p.Arg445Cys)	PROS1 (R477C +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GUncertain significance
Select item 161351	NM_000313.4(PROS1):c.1331C>T (p.Pro444Leu)	PROS1 (P444L +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal dominant +1 more	GUncertain significance
Select item 1055351	NM_000313.4(PROS1):c.1324A>G (p.Ile442Val)	PROS1 (I442V +1 more)	Single nucleotide variant (missense variant)	PROS1-related disorder +2 more	GUncertain significance
Select item 809513	NM_000313.4(PROS1):c.1324-3T>G	PROS1	Single nucleotide variant (intron variant)	Thrombophilia due to protein S deficiency, autosomal recessive +1 more	GUncertain significance

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