ClinVar for MedGen (Select 479841) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26277391.	NM_000313.4(PROS1):c.346+2T>A GRCh37: Chr3:93629461 GRCh38: Chr3:93910617	PROS1		Thrombophilia due to protein S deficiency, autosomal dominant	Likely pathogenic (Nov 2, 2023)	criteria provided, single submitter
Select item 26270712.	NM_000313.4(PROS1):c.1459G>C (p.Gly487Arg) GRCh37: Chr3:93603605 GRCh38: Chr3:93884761	PROS1	G487R, G519R	Thrombophilia due to protein S deficiency, autosomal dominant	Likely pathogenic (Oct 30, 2023)	no assertion criteria provided
Select item 25721563.	NM_000313.4(PROS1):c.346+1G>T GRCh37: Chr3:93629462 GRCh38: Chr3:93910618	PROS1		Thrombophilia due to protein S deficiency, autosomal dominant	Likely pathogenic	criteria provided, single submitter
Select item 25721414.	NM_000313.4(PROS1):c.1916G>T (p.Cys639Phe) GRCh37: Chr3:93593204 GRCh38: Chr3:93874360	PROS1	C639F, C671F	Thrombophilia due to protein S deficiency, autosomal dominant	Uncertain significance	criteria provided, single submitter
Select item 19923675.	NM_000313.4(PROS1):c.447G>T (p.Trp149Cys) GRCh37: Chr3:93624887 GRCh38: Chr3:93906043	PROS1	W149C, W181C	Thrombophilia due to protein S deficiency, autosomal dominant	Likely pathogenic (Apr 7, 2022)	criteria provided, single submitter
Select item 17037896.	NM_000313.4(PROS1):c.905T>G (p.Leu302Trp) GRCh37: Chr3:93615480 GRCh38: Chr3:93896636	PROS1	L302W, L334W	Thrombophilia due to protein S deficiency, autosomal dominant	Uncertain significance	criteria provided, single submitter
Select item 17037887.	NM_000313.4(PROS1):c.1544G>A (p.Arg515His) GRCh37: Chr3:93598107 GRCh38: Chr3:93879263	PROS1	R515H, R547H	Thrombophilia due to protein S deficiency, autosomal dominant	Uncertain significance	criteria provided, single submitter
Select item 16843458.	NM_000313.4(PROS1):c.1088T>C (p.Leu363Pro) GRCh37: Chr3:93611844 GRCh38: Chr3:93893000	PROS1	L363P, L395P	Thrombophilia due to protein S deficiency, autosomal dominant	Uncertain significance	criteria provided, single submitter
Select item 16843449.	NM_000313.4(PROS1):c.1337T>C (p.Leu446Pro) GRCh37: Chr3:93603727 GRCh38: Chr3:93884883	PROS1	L446P, L478P	Thrombophilia due to protein S deficiency, autosomal dominant	Likely pathogenic	criteria provided, single submitter
Select item 168434110.	NM_000313.4(PROS1):c.1764_1765del (p.Pro589fs) GRCh37: Chr3:93595915-93595916 GRCh38: Chr3:93877071-93877072	PROS1	P589fs, P621fs	Thrombophilia due to protein S deficiency, autosomal dominant	Pathogenic (Jul 22, 2020)	criteria provided, single submitter
Select item 168434011.	NM_000313.4(PROS1):c.293C>G (p.Thr98Ser) GRCh37: Chr3:93629516 GRCh38: Chr3:93910672	PROS1	T130S, T98S	Thrombophilia due to protein S deficiency, autosomal dominant, Thrombophilia due to protein S deficiency, autosomal recessive, Thrombophilia due to protein S deficiency, autosomal recessive	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 168433812.	NM_000313.4(PROS1):c.988C>T (p.Arg330Trp) GRCh37: Chr3:93611944 GRCh38: Chr3:93893100	PROS1	R330W, R362W	Thrombophilia due to protein S deficiency, autosomal dominant	Uncertain significance	criteria provided, single submitter
Select item 167726813.	NM_000313.4(PROS1):c.1862G>T (p.Gly621Val) GRCh37: Chr3:93595818 GRCh38: Chr3:93876974	PROS1	G621V, G653V	Thrombophilia due to protein S deficiency, autosomal dominant	Likely pathogenic	criteria provided, single submitter
Select item 167673814.	NM_000313.4(PROS1):c.1055T>G (p.Ile352Ser) GRCh37: Chr3:93611877 GRCh38: Chr3:93893033	PROS1	I352S, I384S	Thrombophilia due to protein S deficiency, autosomal dominant	Uncertain significance	criteria provided, single submitter
Select item 150362615.	NM_000313.4(PROS1):c.1832T>C (p.Met611Thr) GRCh37: Chr3:93595848 GRCh38: Chr3:93877004	PROS1	M611T, M643T	Thrombophilia due to protein S deficiency, autosomal dominant, Thrombophilia due to protein S deficiency, autosomal recessive	Conflicting interpretations of pathogenicity (Mar 31, 2022)	criteria provided, conflicting interpretations
Select item 142140816.	NM_000313.4(PROS1):c.449A>G (p.Gln150Arg) GRCh37: Chr3:93624885 GRCh38: Chr3:93906041	PROS1	Q182R, Q150R	Thrombophilia due to protein S deficiency, autosomal recessive, Thrombophilia due to protein S deficiency, autosomal dominant, Thrombophilia due to protein S deficiency, autosomal recessive	Uncertain significance (Nov 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 133028417.	NM_000313.4(PROS1):c.76+2_76+3del GRCh37: Chr3:93692515-93692516 GRCh38: Chr3:93973671-93973672	PROS1		Thrombophilia due to protein S deficiency, autosomal dominant	Pathogenic (Oct 6, 2021)	criteria provided, single submitter
Select item 133028318.	NM_000313.4(PROS1):c.1870+1G>C GRCh37: Chr3:93595809 GRCh38: Chr3:93876965	PROS1		Thrombophilia due to protein S deficiency, autosomal dominant	Pathogenic (Sep 8, 2021)	criteria provided, single submitter
Select item 133027719.	NM_000313.4(PROS1):c.1043C>T (p.Ala348Val) GRCh37: Chr3:93611889 GRCh38: Chr3:93893045	PROS1	A348V, A380V	Thrombophilia due to protein S deficiency, autosomal dominant	Uncertain significance (Apr 21, 2021)	criteria provided, single submitter
Select item 133027620.	NM_000313.4(PROS1):c.154G>C (p.Gly52Arg) GRCh37: Chr3:93646174 GRCh38: Chr3:93927330	PROS1	G52R, G84R	Thrombophilia due to protein S deficiency, autosomal dominant	Likely pathogenic (Jun 17, 2021)	criteria provided, single submitter
Select item 133027321.	NM_000313.4(PROS1):c.595T>C (p.Cys199Arg) GRCh37: Chr3:93624634 GRCh38: Chr3:93905790	PROS1	C199R, C231R	Thrombophilia due to protein S deficiency, autosomal dominant	Likely pathogenic (Mar 22, 2021)	criteria provided, single submitter
Select item 121990622.	NM_000313.4(PROS1):c.234+72T>C GRCh37: Chr3:93646022 GRCh38: Chr3:93927178	PROS1		Thrombophilia due to protein S deficiency, autosomal dominant, not provided	Conflicting interpretations of pathogenicity (Jul 6, 2018)	criteria provided, conflicting interpretations
Select item 106556123.	NM_000313.4(PROS1):c.1820T>C (p.Leu607Ser) GRCh37: Chr3:93595860 GRCh38: Chr3:93877016	PROS1	L607S, L639S	Thrombophilia due to protein S deficiency, autosomal dominant	Uncertain significance (Apr 7, 2021)	no assertion criteria provided
Select item 106441924.	NM_000313.4(PROS1):c.1904T>C (p.Phe635Ser) GRCh37: Chr3:93593216 GRCh38: Chr3:93874372	PROS1	F635S, F667S	Thrombophilia due to protein S deficiency, autosomal dominant	Likely pathogenic (Jan 15, 2021)	no assertion criteria provided
Select item 104866525.	NM_000313.4(PROS1):c.1252A>T (p.Asn418Tyr) GRCh37: Chr3:93605251 GRCh38: Chr3:93886407	PROS1	N418Y, N450Y	Thrombophilia due to protein S deficiency, autosomal dominant	Likely pathogenic (Feb 23, 2021)	criteria provided, single submitter
Select item 104866426.	NM_000313.4(PROS1):c.740G>C (p.Cys247Ser) GRCh37: Chr3:93617401 GRCh38: Chr3:93898557	PROS1	C247S, C279S	Thrombophilia due to protein S deficiency, autosomal dominant	Pathogenic (Feb 17, 2021)	criteria provided, single submitter
Select item 101721027.	NM_000313.4(PROS1):c.1981A>G (p.Ile661Val) GRCh37: Chr3:93593139 GRCh38: Chr3:93874295	PROS1	I661V, I693V	Thrombophilia due to protein S deficiency, autosomal recessive, Thrombophilia due to protein S deficiency, autosomal dominant, Thrombophilia due to protein S deficiency, autosomal recessive	Uncertain significance (Aug 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 100262828.	NM_000313.4(PROS1):c.119G>A (p.Arg40His) GRCh37: Chr3:93646209 GRCh38: Chr3:93927365	PROS1	R40H, R72H	Thrombophilia due to protein S deficiency, autosomal recessive, Thrombophilia due to protein S deficiency, autosomal dominant, Thrombophilia due to protein S deficiency, autosomal recessive	Uncertain significance (Dec 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 98311229.	NM_000313.4(PROS1):c.947G>A (p.Arg316His) GRCh37: Chr3:93615438 GRCh38: Chr3:93896594	PROS1	R316H, R348H	Thrombophilia due to protein S deficiency, autosomal dominant, Thrombophilia due to protein S deficiency, autosomal recessive, Thrombophilia due to protein S deficiency, autosomal dominant, Thrombophilia due to protein S deficiency, autosomal recessive	Uncertain significance (Apr 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 96906330.	NM_000313.4(PROS1):c.258A>G (p.Leu86=) GRCh37: Chr3:93643085 GRCh38: Chr3:93924241	PROS1		Thrombophilia due to protein S deficiency, autosomal dominant, Thrombophilia due to protein S deficiency, autosomal recessive, Thrombophilia due to protein S deficiency, autosomal recessive	Uncertain significance (Sep 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 95639031.	NM_000313.4(PROS1):c.1064G>A (p.Arg355His) GRCh37: Chr3:93611868 GRCh38: Chr3:93893024	PROS1	R387H, R355H	Thrombophilia due to protein S deficiency, autosomal dominant, Thrombophilia due to protein S deficiency, autosomal recessive, Thrombophilia due to protein S deficiency, autosomal recessive	Likely pathogenic (May 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 95142732.	NM_000313.4(PROS1):c.1501T>G (p.Ser501Ala) GRCh37: Chr3:93598150 GRCh38: Chr3:93879306	PROS1	S501A, S533A	Thrombophilia due to protein S deficiency, autosomal recessive, Thrombophilia due to protein S deficiency, autosomal dominant	Uncertain significance (Jul 7, 2019)	criteria provided, multiple submitters, no conflicts
Select item 94595533.	NM_000313.4(PROS1):c.200A>C (p.Glu67Ala) GRCh37: Chr3:93646128 GRCh38: Chr3:93927284	PROS1	E67A, E99A	Thrombophilia due to protein S deficiency, autosomal recessive, Thrombophilia due to protein S deficiency, autosomal dominant, Thrombophilia due to protein S deficiency, autosomal dominant, Thrombophilia due to protein S deficiency, autosomal recessive	Pathogenic/Likely pathogenic (Jun 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90326634.	NM_000313.4(PROS1):c.563A>G (p.Asn188Ser) GRCh37: Chr3:93624666 GRCh38: Chr3:93905822	PROS1	N188S, N220S	Thrombophilia due to protein S deficiency, autosomal dominant	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90326535.	NM_000313.4(PROS1):c.728-12T>C GRCh37: Chr3:93617425 GRCh38: Chr3:93898581	PROS1		Thrombophilia due to protein S deficiency, autosomal dominant	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90319836.	NM_000313.4(PROS1):c.*380A>T GRCh37: Chr3:93592709 GRCh38: Chr3:93873865	PROS1		Thrombophilia due to protein S deficiency, autosomal dominant	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 90319737.	NM_000313.4(PROS1):c.*385A>G GRCh37: Chr3:93592704 GRCh38: Chr3:93873860	PROS1		Thrombophilia due to protein S deficiency, autosomal dominant	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90319638.	NM_000313.4(PROS1):c.*454G>A GRCh37: Chr3:93592635 GRCh38: Chr3:93873791	PROS1		Thrombophilia due to protein S deficiency, autosomal dominant	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 90319539.	NM_000313.4(PROS1):c.*469A>C GRCh37: Chr3:93592620 GRCh38: Chr3:93873776	PROS1		Thrombophilia due to protein S deficiency, autosomal dominant	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 90319440.	NM_000313.4(PROS1):c.*550G>A GRCh37: Chr3:93592539 GRCh38: Chr3:93873695	PROS1		Thrombophilia due to protein S deficiency, autosomal dominant, Thrombophilia due to protein S deficiency, autosomal dominant, Thrombophilia due to protein S deficiency, autosomal recessive	Uncertain significance (Sep 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 90248141.	NM_000313.3(PROS1):c.-190C>G GRCh37: Chr3:93692783 GRCh38: Chr3:93973939	PROS1		Thrombophilia due to protein S deficiency, autosomal recessive, Thrombophilia due to protein S deficiency, autosomal dominant	Conflicting interpretations of pathogenicity (Oct 29, 2022)	criteria provided, conflicting interpretations
Select item 90248042.	NM_000313.3(PROS1):c.-187G>T GRCh37: Chr3:93692780 GRCh38: Chr3:93973936	PROS1		Thrombophilia due to protein S deficiency, autosomal dominant	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90241143.	NM_000313.4(PROS1):c.965+9C>T GRCh37: Chr3:93615411 GRCh38: Chr3:93896567	PROS1		Thrombophilia due to protein S deficiency, autosomal dominant	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90241044.	NM_000313.4(PROS1):c.1457C>G (p.Pro486Arg) GRCh37: Chr3:93603607 GRCh38: Chr3:93884763	PROS1	P518R, P486R	Thrombophilia due to protein S deficiency, autosomal dominant	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 90240945.	NM_000313.4(PROS1):c.1483A>G (p.Ile495Val) GRCh37: Chr3:93603581 GRCh38: Chr3:93884737	PROS1	I495V, I527V	Thrombophilia due to protein S deficiency, autosomal dominant	Uncertain significance (Mar 30, 2018)	criteria provided, single submitter
Select item 90233546.	NM_000313.4(PROS1):c.*737G>C GRCh37: Chr3:93592352 GRCh38: Chr3:93873508	PROS1		Thrombophilia due to protein S deficiency, autosomal dominant	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90233447.	NM_000313.4(PROS1):c.*887C>A GRCh37: Chr3:93592202 GRCh38: Chr3:93873358	PROS1		Thrombophilia due to protein S deficiency, autosomal dominant	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90233348.	NM_000313.4(PROS1):c.*972C>T GRCh37: Chr3:93592117 GRCh38: Chr3:93873273	PROS1		Thrombophilia due to protein S deficiency, autosomal dominant	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90233249.	NM_000313.4(PROS1):c.*992T>G GRCh37: Chr3:93592097 GRCh38: Chr3:93873253	PROS1		Thrombophilia due to protein S deficiency, autosomal dominant	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 90081250.	NM_000313.3(PROS1):c.-167G>T GRCh37: Chr3:93692760 GRCh38: Chr3:93973916	PROS1		Thrombophilia due to protein S deficiency, autosomal dominant	Uncertain significance (Mar 16, 2018)	criteria provided, single submitter
Select item 90081151.	NM_000313.4(PROS1):c.-48C>A GRCh37: Chr3:93692641 GRCh38: Chr3:93973797	PROS1		Thrombophilia due to protein S deficiency, autosomal dominant	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90073052.	NM_000313.4(PROS1):c.1502C>G (p.Ser501Cys) GRCh37: Chr3:93598149 GRCh38: Chr3:93879305	PROS1	S501C, S533C	Thrombophilia due to protein S deficiency, autosomal dominant	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90072953.	NM_000313.4(PROS1):c.1708G>A (p.Asp570Asn) GRCh37: Chr3:93595972 GRCh38: Chr3:93877128	PROS1	D602N, D570N	Thrombophilia due to protein S deficiency, autosomal dominant	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90072854.	NM_000313.4(PROS1):c.1752G>A (p.Leu584=) GRCh37: Chr3:93595928 GRCh38: Chr3:93877084	PROS1		Thrombophilia due to protein S deficiency, autosomal recessive, Thrombophilia due to protein S deficiency, autosomal dominant	Conflicting interpretations of pathogenicity (Oct 12, 2021)	criteria provided, conflicting interpretations
Select item 90072755.	NM_000313.4(PROS1):c.1876C>T (p.Pro626Ser) GRCh37: Chr3:93593244 GRCh38: Chr3:93874400	PROS1	P658S, P626S	Thrombophilia due to protein S deficiency, autosomal dominant	Uncertain significance (Sep 14, 2017)	criteria provided, single submitter
Select item 90065556.	NM_000313.4(PROS1):c.*1014T>C GRCh37: Chr3:93592075 GRCh38: Chr3:93873231	PROS1		Thrombophilia due to protein S deficiency, autosomal dominant	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90065457.	NM_000313.4(PROS1):c.*1046T>C GRCh37: Chr3:93592043 GRCh38: Chr3:93873199	PROS1		Thrombophilia due to protein S deficiency, autosomal dominant	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90065358.	NM_000313.4(PROS1):c.*1082A>G GRCh37: Chr3:93592007 GRCh38: Chr3:93873163	PROS1		Thrombophilia due to protein S deficiency, autosomal dominant	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90065259.	NM_000313.4(PROS1):c.*1103A>G GRCh37: Chr3:93591986 GRCh38: Chr3:93873142	PROS1		Thrombophilia due to protein S deficiency, autosomal dominant, Thrombophilia due to protein S deficiency, autosomal recessive, Thrombophilia due to protein S deficiency, autosomal dominant	Uncertain significance (Aug 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 90065160.	NM_000313.4(PROS1):c.*1186C>T GRCh37: Chr3:93591903 GRCh38: Chr3:93873059	PROS1		Thrombophilia due to protein S deficiency, autosomal dominant	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90065061.	NM_000313.3(PROS1):c.*1195C>G GRCh37: Chr3:93591894 GRCh38: Chr3:93873050	PROS1		Thrombophilia due to protein S deficiency, autosomal dominant	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89966462.	NM_000313.4(PROS1):c.228G>A (p.Pro76=) GRCh37: Chr3:93646100 GRCh38: Chr3:93927256	PROS1		Thrombophilia due to protein S deficiency, autosomal recessive, Thrombophilia due to protein S deficiency, autosomal dominant	Conflicting interpretations of pathogenicity (Oct 7, 2022)	criteria provided, conflicting interpretations
Select item 89966363.	NM_000313.4(PROS1):c.311C>A (p.Thr104Asn) GRCh37: Chr3:93629498 GRCh38: Chr3:93910654	PROS1	T104N, T136N	Thrombophilia due to protein S deficiency, autosomal dominant	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89966264.	NM_000313.4(PROS1):c.346+15C>T GRCh37: Chr3:93629448 GRCh38: Chr3:93910604	PROS1		Thrombophilia due to protein S deficiency, autosomal dominant	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89958965.	NM_000313.4(PROS1):c.1889C>T (p.Thr630Ile) GRCh37: Chr3:93593231 GRCh38: Chr3:93874387	PROS1	T630I, T662I	Thrombophilia due to protein S deficiency, autosomal dominant	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 85929166.	NM_000313.4(PROS1):c.688G>A (p.Glu230Lys) GRCh37: Chr3:93619687 GRCh38: Chr3:93900843	PROS1	E230K, E262K	Thrombophilia due to protein S deficiency, autosomal recessive, Thrombophilia due to protein S deficiency, autosomal dominant, Thrombophilia due to protein S deficiency, autosomal recessive	Uncertain significance (Feb 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85693667.	NM_000313.4(PROS1):c.469+5G>A GRCh37: Chr3:93624860 GRCh38: Chr3:93906016	PROS1		Thrombophilia due to protein S deficiency, autosomal recessive, Thrombophilia due to protein S deficiency, autosomal dominant, Thrombophilia due to protein S deficiency, autosomal recessive	Uncertain significance (Oct 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 81215068.	NM_000313.4(PROS1):c.766T>A (p.Cys256Ser) GRCh37: Chr3:93617375 GRCh38: Chr3:93898531	PROS1	C288S, C256S	Thrombophilia due to protein S deficiency, autosomal dominant	Likely pathogenic (Aug 12, 2019)	criteria provided, single submitter
Select item 80198969.	NM_000313.4(PROS1):c.1871-14T>G GRCh37: Chr3:93593263 GRCh38: Chr3:93874419	PROS1		Thrombophilia due to protein S deficiency, autosomal dominant, Thrombophilia due to protein S deficiency, autosomal recessive	Uncertain significance (Oct 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 69749370.	NM_000313.4(PROS1):c.1707C>T (p.Ser569=) GRCh37: Chr3:93595973 GRCh38: Chr3:93877129	PROS1		Thrombophilia due to protein S deficiency, autosomal dominant, Thrombophilia due to protein S deficiency, autosomal recessive	Conflicting interpretations of pathogenicity (May 24, 2018)	criteria provided, conflicting interpretations
Select item 69647871.	NM_000313.4(PROS1):c.1446C>T (p.Gly482=) GRCh37: Chr3:93603618 GRCh38: Chr3:93884774	PROS1		Thrombophilia due to protein S deficiency, autosomal dominant, Thrombophilia due to protein S deficiency, autosomal recessive, not provided	Benign/Likely benign (Dec 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 62708072.	NM_000313.4(PROS1):c.49dup (p.Leu17fs) GRCh37: Chr3:93692544-93692545 GRCh38: Chr3:93973700-93973701	PROS1	L17fs	Thrombophilia due to protein S deficiency, autosomal dominant, Protein S deficiency disease	Likely pathogenic (Feb 1, 2019)	criteria provided, multiple submitters, no conflicts
Select item 62701073.	NM_000313.4(PROS1):c.1553C>T (p.Thr518Met) GRCh37: Chr3:93598098 GRCh38: Chr3:93879254	PROS1	T518M, T550M	Thrombophilia due to protein S deficiency, autosomal dominant, Thrombophilia due to protein S deficiency, autosomal recessive, Thrombophilia due to protein S deficiency, autosomal recessive, Protein S deficiency disease	Uncertain significance (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 62700074.	NM_000313.4(PROS1):c.148A>G (p.Lys50Glu) GRCh37: Chr3:93646180 GRCh38: Chr3:93927336	PROS1	K50E, K82E	Thrombophilia due to protein S deficiency, autosomal recessive, Abnormal bleeding, Thrombophilia due to protein S deficiency, autosomal recessive, Thrombophilia due to protein S deficiency, autosomal dominant	Uncertain significance (Oct 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 58150275.	NM_000313.4(PROS1):c.77-1G>C GRCh37: Chr3:93646252 GRCh38: Chr3:93927408	PROS1		not provided, Thrombophilia due to protein S deficiency, autosomal recessive, PROS1-related condition, Thrombophilia due to protein S deficiency, autosomal dominant	Pathogenic (Jun 26, 2023)	criteria provided, multiple submitters, no conflicts
Select item 54021176.	NM_000313.4(PROS1):c.227C>T (p.Pro76Leu) GRCh37: Chr3:93646101 GRCh38: Chr3:93927257	PROS1	P76L, P108L	Thrombophilia due to protein S deficiency, autosomal dominant, not provided, Thrombophilia due to protein S deficiency, autosomal recessive	Conflicting interpretations of pathogenicity (Oct 11, 2022)	criteria provided, conflicting interpretations
Select item 52133177.	NM_000313.4(PROS1):c.496A>C (p.Asn166His) GRCh37: Chr3:93624733 GRCh38: Chr3:93905889	PROS1	N166H, N198H	Inborn genetic diseases, Thrombophilia due to protein S deficiency, autosomal recessive, Thrombophilia due to protein S deficiency, autosomal recessive, Thrombophilia due to protein S deficiency, autosomal dominant	Uncertain significance (Sep 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 50372678.	NM_000313.4(PROS1):c.1351C>T (p.Arg451Ter) GRCh37: Chr3:93603713 GRCh38: Chr3:93884869	PROS1	R451, R483	not provided, Thrombophilia due to protein S deficiency, autosomal recessive, Thrombophilia due to protein S deficiency, autosomal dominant, Protein S deficiency disease	Pathogenic/Likely pathogenic (Jan 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34690079.	NM_000313.3(PROS1):c.-261C>T GRCh37: Chr3:93692854 GRCh38: Chr3:93974010	PROS1		Thrombophilia due to protein S deficiency, autosomal dominant, Thrombophilia due to protein S deficiency, autosomal recessive, Thrombophilia due to protein S deficiency, autosomal dominant	Uncertain significance (Aug 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 34689980.	NM_000313.4(PROS1):c.-135C>T GRCh37: Chr3:93692728 GRCh38: Chr3:93973884	PROS1		Thrombophilia due to protein S deficiency, autosomal recessive, Thrombophilia due to protein S deficiency, autosomal dominant, Thrombophilia due to protein S deficiency, autosomal dominant	Uncertain significance (Feb 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34689881.	NM_000313.4(PROS1):c.-116C>T GRCh37: Chr3:93692709 GRCh38: Chr3:93973865	PROS1		Thrombophilia due to protein S deficiency, autosomal dominant	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34689782.	NM_000313.4(PROS1):c.-62T>G GRCh37: Chr3:93692655 GRCh38: Chr3:93973811	PROS1		Thrombophilia due to protein S deficiency, autosomal dominant	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 34689683.	NM_000313.4(PROS1):c.-60G>C GRCh37: Chr3:93692653 GRCh38: Chr3:93973809	PROS1		Thrombophilia due to protein S deficiency, autosomal dominant	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34689584.	NM_000313.4(PROS1):c.-43G>A GRCh37: Chr3:93692636 GRCh38: Chr3:93973792	PROS1		Thrombophilia due to protein S deficiency, autosomal dominant	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34689485.	NM_000313.4(PROS1):c.111T>C (p.Val37=) GRCh37: Chr3:93646217 GRCh38: Chr3:93927373	PROS1		Thrombophilia due to protein S deficiency, autosomal dominant	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34689386.	NM_000313.4(PROS1):c.119G>T (p.Arg40Leu) GRCh37: Chr3:93646209 GRCh38: Chr3:93927365	PROS1	R40L, R72L	not provided, Thrombophilia due to protein S deficiency, autosomal dominant, Thrombophilia due to protein S deficiency, autosomal recessive, Protein S deficiency disease	Conflicting interpretations of pathogenicity (Oct 20, 2022)	criteria provided, conflicting interpretations
Select item 34689287.	NM_000313.4(PROS1):c.234G>A (p.Thr78=) GRCh37: Chr3:93646094 GRCh38: Chr3:93927250	PROS1		Thrombophilia due to protein S deficiency, autosomal dominant	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34689188.	NM_000313.4(PROS1):c.503A>G (p.Asn168Ser) GRCh37: Chr3:93624726 GRCh38: Chr3:93905882	PROS1	N168S, N200S	Thrombophilia due to protein S deficiency, autosomal dominant, Thrombophilia due to protein S deficiency, autosomal recessive	Conflicting interpretations of pathogenicity (Sep 30, 2022)	criteria provided, conflicting interpretations
Select item 34689089.	NM_000313.4(PROS1):c.585T>C (p.Asn195=) GRCh37: Chr3:93624644 GRCh38: Chr3:93905800	PROS1		Thrombophilia due to protein S deficiency, autosomal dominant, Thrombophilia due to protein S deficiency, autosomal recessive	Conflicting interpretations of pathogenicity (Aug 3, 2021)	criteria provided, conflicting interpretations
Select item 34688990.	NM_000313.4(PROS1):c.601+12A>G GRCh37: Chr3:93624616 GRCh38: Chr3:93905772	PROS1		Thrombophilia due to protein S deficiency, autosomal dominant	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34688891.	NM_000313.4(PROS1):c.684C>T (p.Cys228=) GRCh37: Chr3:93619691 GRCh38: Chr3:93900847	PROS1		Thrombophilia due to protein S deficiency, autosomal recessive, Thrombophilia due to protein S deficiency, autosomal dominant	Conflicting interpretations of pathogenicity (Jul 2, 2022)	criteria provided, conflicting interpretations
Select item 34688792.	NM_000313.4(PROS1):c.710A>C (p.Lys237Thr) GRCh37: Chr3:93619665 GRCh38: Chr3:93900821	PROS1	K269T, K237T	Thrombophilia due to protein S deficiency, autosomal dominant	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34688693.	NM_000313.4(PROS1):c.805G>A (p.Gly269Arg) GRCh37: Chr3:93617336 GRCh38: Chr3:93898492	PROS1	G269R, G301R	Thrombophilia due to protein S deficiency, autosomal dominant	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34688594.	NM_000313.4(PROS1):c.1021G>A (p.Ala341Thr) GRCh37: Chr3:93611911 GRCh38: Chr3:93893067	PROS1	A341T, A373T	Thrombophilia due to protein S deficiency, autosomal recessive, Thrombophilia due to protein S deficiency, autosomal dominant	Conflicting interpretations of pathogenicity (Nov 18, 2019)	criteria provided, conflicting interpretations
Select item 34688495.	NM_000313.4(PROS1):c.1032C>T (p.Ile344=) GRCh37: Chr3:93611900 GRCh38: Chr3:93893056	PROS1		Thrombophilia due to protein S deficiency, autosomal recessive, Thrombophilia due to protein S deficiency, autosomal dominant	Benign/Likely benign (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34688396.	NM_000313.4(PROS1):c.1323+8T>G GRCh37: Chr3:93605172 GRCh38: Chr3:93886328	PROS1		Thrombophilia due to protein S deficiency, autosomal recessive, Thrombophilia due to protein S deficiency, autosomal dominant	Conflicting interpretations of pathogenicity (Jul 6, 2022)	criteria provided, conflicting interpretations
Select item 34688297.	NM_000313.4(PROS1):c.1377A>G (p.Gly459=) GRCh37: Chr3:93603687 GRCh38: Chr3:93884843	PROS1		Thrombophilia due to protein S deficiency, autosomal recessive, Thrombophilia due to protein S deficiency, autosomal dominant	Conflicting interpretations of pathogenicity (Oct 26, 2022)	criteria provided, conflicting interpretations
Select item 34688198.	NM_000313.4(PROS1):c.1494T>C (p.Asn498=) GRCh37: Chr3:93598157 GRCh38: Chr3:93879313	PROS1		Thrombophilia due to protein S deficiency, autosomal recessive, Thrombophilia due to protein S deficiency, autosomal dominant	Benign/Likely benign (Oct 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34688099.	NM_000313.4(PROS1):c.2003C>T (p.Ser668Leu) GRCh37: Chr3:93593117 GRCh38: Chr3:93874273	PROS1	S668L, S700L	Thrombophilia due to protein S deficiency, autosomal dominant	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 346879100.	NM_000313.4(PROS1):c.*86T>C GRCh37: Chr3:93593003 GRCh38: Chr3:93874159	PROS1		Thrombophilia due to protein S deficiency, autosomal dominant	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter

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