ClinVar for MedGen (Select 479841) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066092	NM_000313.4(PROS1):c.1492+6T>G	PROS1	Single nucleotide variant (intron variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GUncertain significance
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 2683979	NM_000313.4(PROS1):c.122G>A (p.Arg41His)	PROS1 (R41H +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive +1 more	GConflicting classifications of pathogenicity
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 2664772	NM_000313.4(PROS1):c.684C>G (p.Cys228Trp)	PROS1 (C228W +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 2572156	NM_000313.4(PROS1):c.346+1G>T	PROS1	Single nucleotide variant (splice donor variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GLikely pathogenic
Select item 2572141	NM_000313.4(PROS1):c.1916G>T (p.Cys639Phe)	PROS1 (C639F +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GUncertain significance
Select item 2415145	NM_000313.4(PROS1):c.301C>T (p.Arg101Cys)	PROS1 (R101C +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive +1 more	GConflicting classifications of pathogenicity
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 1703789	NM_000313.4(PROS1):c.905T>G (p.Leu302Trp)	PROS1 (L302W +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GUncertain significance
Select item 1703788	NM_000313.4(PROS1):c.1544G>A (p.Arg515His)	PROS1 (R515H +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GUncertain significance
Select item 1684345	NM_000313.4(PROS1):c.1088T>C (p.Leu363Pro)	PROS1 (L363P +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GUncertain significance
Select item 1684344	NM_000313.4(PROS1):c.1337T>C (p.Leu446Pro)	PROS1 (L446P +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GLikely pathogenic
Select item 1684341	NM_000313.4(PROS1):c.1764_1765del (p.Pro589fs)	PROS1 (P589fs +1 more)	Microsatellite (frameshift variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GPathogenic
Select item 1684340	NM_000313.4(PROS1):c.293C>G (p.Thr98Ser)	PROS1 (T130S +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal dominant +1 more	GUncertain significance
Select item 1684338	NM_000313.4(PROS1):c.988C>T (p.Arg330Trp)	PROS1 (R330W +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GUncertain significance
Select item 1677268	NM_000313.4(PROS1):c.1862G>T (p.Gly621Val)	PROS1 (G621V +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GLikely pathogenic
Select item 1676738	NM_000313.4(PROS1):c.1055T>G (p.Ile352Ser)	PROS1 (I352S +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal dominant	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 dominant +1 more	GConflicting classifications of pathogenicity
Select item 1421408	NM_000313.4(PROS1):c.449A>G (p.Gln150Arg)	PROS1 (Q182R +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal dominant +1 more	GUncertain significance
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 1330277	NM_000313.4(PROS1):c.1043C>T (p.Ala348Val)	PROS1 (A348V +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive +1 more	GUncertain significance
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 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 1065561	NM_000313.4(PROS1):c.1820T>C (p.Leu607Ser)	PROS1 (L607S +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GUncertain significance
Select item 1064419	NM_000313.4(PROS1):c.1904T>C (p.Phe635Ser)	PROS1 (F635S +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal dominant	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 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 1002628	NM_000313.4(PROS1):c.119G>A (p.Arg40His)	PROS1 (R40H +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive +1 more	GUncertain significance
Select item 983112	NM_000313.4(PROS1):c.947G>A (p.Arg316His)	PROS1 (R316H +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive +1 more	GUncertain significance
Select item 969063	NM_000313.4(PROS1):c.258A>G (p.Leu86=)	PROS1	Single nucleotide variant (synonymous variant)	PROS1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 959346	NM_000313.4(PROS1):c.1323_1323+1del	PROS1	Deletion (splice donor variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GLikely pathogenic
Select item 956390	NM_000313.4(PROS1):c.1064G>A (p.Arg355His)	PROS1 (R387H +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive +1 more	GLikely pathogenic
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 945955	NM_000313.4(PROS1):c.200A>C (p.Glu67Ala)	PROS1 (E67A +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal dominant +2 more	GPathogenic/Likely pathogenic
Select item 903266	NM_000313.4(PROS1):c.563A>G (p.Asn188Ser)	PROS1 (N188S +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GUncertain significance
Select item 903265	NM_000313.4(PROS1):c.728-12T>C	PROS1	Single nucleotide variant (intron variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GUncertain significance
Select item 903198	NM_000313.4(PROS1):c.*380A>T	PROS1	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GLikely benign
Select item 903197	NM_000313.4(PROS1):c.*385A>G	PROS1	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GUncertain significance
Select item 903196	NM_000313.4(PROS1):c.*454G>A	PROS1	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GLikely benign
Select item 903195	NM_000313.4(PROS1):c.*469A>C	PROS1	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GLikely benign
Select item 903194	NM_000313.4(PROS1):c.*550G>A	PROS1	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to protein S deficiency, autosomal dominant +1 more	GUncertain significance
Select item 902481	NM_000313.3(PROS1):c.-190C>G	PROS1	Single nucleotide variant	Thrombophilia due to protein S deficiency, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 902480	NM_000313.3(PROS1):c.-187G>T	PROS1	Single nucleotide variant	Thrombophilia due to protein S deficiency, autosomal dominant	GUncertain significance
Select item 902411	NM_000313.4(PROS1):c.965+9C>T	PROS1	Single nucleotide variant (intron variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GUncertain significance
Select item 902410	NM_000313.4(PROS1):c.1457C>G (p.Pro486Arg)	PROS1 (P518R +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GUncertain significance
Select item 902409	NM_000313.4(PROS1):c.1483A>G (p.Ile495Val)	PROS1 (I495V +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GUncertain significance
Select item 902335	NM_000313.4(PROS1):c.*737G>C	PROS1	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GUncertain significance
Select item 902334	NM_000313.4(PROS1):c.*887C>A	PROS1	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GUncertain significance
Select item 902333	NM_000313.4(PROS1):c.*972C>T	PROS1	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GUncertain significance
Select item 902332	NM_000313.4(PROS1):c.*992T>G	PROS1	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GLikely benign
Select item 900812	NM_000313.3(PROS1):c.-167G>T	PROS1	Single nucleotide variant	Thrombophilia due to protein S deficiency, autosomal dominant	GUncertain significance
Select item 900811	NM_000313.4(PROS1):c.-48C>A	PROS1	Single nucleotide variant (5 prime UTR variant)	PROS1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 900730	NM_000313.4(PROS1):c.1502C>G (p.Ser501Cys)	PROS1 (S501C +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GUncertain significance
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 recessive +1 more	GUncertain significance
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 recessive +1 more	GConflicting classifications of pathogenicity
Select item 900727	NM_000313.4(PROS1):c.1876C>T (p.Pro626Ser)	PROS1 (P658S +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GUncertain significance
Select item 900655	NM_000313.4(PROS1):c.*1014T>C	PROS1	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GUncertain significance
Select item 900654	NM_000313.4(PROS1):c.*1046T>C	PROS1	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GUncertain significance
Select item 900653	NM_000313.4(PROS1):c.*1082A>G	PROS1	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GUncertain significance
Select item 900652	NM_000313.4(PROS1):c.*1103A>G	PROS1	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to protein S deficiency, autosomal dominant +1 more	GUncertain significance
Select item 900651	NM_000313.4(PROS1):c.*1186C>T	PROS1	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GUncertain significance
Select item 900650	NM_000313.3(PROS1):c.*1195C>G	PROS1	Single nucleotide variant	Thrombophilia due to protein S deficiency, autosomal dominant	GUncertain significance
Select item 899664	NM_000313.4(PROS1):c.228G>A (p.Pro76=)	PROS1	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein S deficiency, autosomal dominant +1 more	GConflicting classifications of pathogenicity
Select item 899663	NM_000313.4(PROS1):c.311C>A (p.Thr104Asn)	PROS1 (T104N +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GUncertain significance
Select item 899662	NM_000313.4(PROS1):c.346+15C>T	PROS1	Single nucleotide variant (intron variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GUncertain significance
Select item 899589	NM_000313.4(PROS1):c.1889C>T (p.Thr630Ile)	PROS1 (T630I +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GUncertain significance
Select item 859291	NM_000313.4(PROS1):c.688G>A (p.Glu230Lys)	PROS1 (E230K +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive +1 more	GUncertain significance
Select item 856936	NM_000313.4(PROS1):c.469+5G>A	PROS1	Single nucleotide variant (intron variant)	Thrombophilia due to protein S deficiency, autosomal dominant +1 more	GUncertain significance
Select item 835217	NM_000313.4(PROS1):c.601+1G>A	PROS1	Single nucleotide variant (splice donor variant)	Thrombophilia due to protein S deficiency, autosomal recessive +1 more	GLikely pathogenic
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 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 697493	NM_000313.4(PROS1):c.1707C>T (p.Ser569=)	PROS1	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein S deficiency, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 696478	NM_000313.4(PROS1):c.1446C>T (p.Gly482=)	PROS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
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 627010	NM_000313.4(PROS1):c.1553C>T (p.Thr518Met)	PROS1 (T518M +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive +2 more	GUncertain significance
Select item 627000	NM_000313.4(PROS1):c.148A>G (p.Lys50Glu)	PROS1 (K50E +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal dominant +2 more	GUncertain significance
Select item 581502	NM_000313.4(PROS1):c.77-1G>C	PROS1	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GPathogenic
Select item 540211	NM_000313.4(PROS1):c.227C>T (p.Pro76Leu)	PROS1 (P76L +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 521331	NM_000313.4(PROS1):c.496A>C (p.Asn166His)	PROS1 (N166H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	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 346900	NM_000313.3(PROS1):c.-261C>T	PROS1	Single nucleotide variant	Thrombophilia due to protein S deficiency, autosomal dominant +1 more	GUncertain significance
Select item 346899	NM_000313.4(PROS1):c.-135C>T	PROS1	Single nucleotide variant (5 prime UTR variant)	Thrombophilia due to protein S deficiency, autosomal recessive +1 more	GUncertain significance
Select item 346898	NM_000313.4(PROS1):c.-116C>T	PROS1	Single nucleotide variant (5 prime UTR variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GUncertain significance
Select item 346897	NM_000313.4(PROS1):c.-62T>G	PROS1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 346896	NM_000313.4(PROS1):c.-60G>C	PROS1	Single nucleotide variant (5 prime UTR variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GUncertain significance
Select item 346895	NM_000313.4(PROS1):c.-43G>A	PROS1	Single nucleotide variant (5 prime UTR variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GUncertain significance
Select item 346894	NM_000313.4(PROS1):c.111T>C (p.Val37=)	PROS1	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GUncertain significance
Select item 346893	NM_000313.4(PROS1):c.119G>T (p.Arg40Leu)	PROS1 (R40L +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 346892	NM_000313.4(PROS1):c.234G>A (p.Thr78=)	PROS1	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GUncertain significance
Select item 346891	NM_000313.4(PROS1):c.503A>G (p.Asn168Ser)	PROS1 (N168S +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 346890	NM_000313.4(PROS1):c.585T>C (p.Asn195=)	PROS1	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein S deficiency, autosomal dominant +1 more	GConflicting classifications of pathogenicity
Select item 346889	NM_000313.4(PROS1):c.601+12A>G	PROS1	Single nucleotide variant (intron variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GUncertain significance
Select item 346888	NM_000313.4(PROS1):c.684C>T (p.Cys228=)	PROS1	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein S deficiency, autosomal dominant +1 more	GConflicting classifications of pathogenicity

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