ClinVar for MedGen (Select 87518) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25732211.	NM_005359.6(SMAD4):c.904+35T>A GRCh37: Chr18:48584861 GRCh38: Chr18:51058491	SMAD4		Juvenile polyposis syndrome	Benign (Jul 7, 2023)	criteria provided, single submitter
Select item 25035212.	NM_004329.3(BMPR1A):c.428T>C (p.Ile143Thr) GRCh37: Chr10:88659645 GRCh38: Chr10:86899888	BMPR1A	I115T, I143T	Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome	Uncertain significance (May 3, 2023)	criteria provided, multiple submitters, no conflicts
Select item 24253433.	NC_000018.9:g.(?_48573397)_(48573685_?)dup GRCh37: Chr18:48573397-48573685	SMAD4		Juvenile polyposis syndrome	Likely benign (Sep 29, 2022)	criteria provided, single submitter
Select item 24253424.	NC_000018.9:g.(?_48604616)_(48604837_?)dup GRCh37: Chr18:48604616-48604837	SMAD4		Juvenile polyposis syndrome	Likely benign (Oct 27, 2022)	criteria provided, single submitter
Select item 24253415.	NC_000018.9:g.(?_48591783)_(48593567_?)del GRCh37: Chr18:48591783-48593567	SMAD4		Juvenile polyposis syndrome	Pathogenic (Nov 26, 2021)	criteria provided, single submitter
Select item 24253406.	NC_000018.9:g.(?_48602988)_(48604837_?)del GRCh37: Chr18:48602988-48604837	SMAD4		Juvenile polyposis syndrome	Pathogenic (Nov 9, 2021)	criteria provided, single submitter
Select item 24250707.	NC_000010.10:g.(?_88683123)_(88683476_?)del GRCh37: Chr10:88683123-88683476	BMPR1A		Juvenile polyposis syndrome	Pathogenic (Sep 15, 2021)	criteria provided, single submitter
Select item 24250698.	NC_000010.10:g.(?_88635625)_(88651996_?)dup GRCh37: Chr10:88635625-88651996	BMPR1A		Juvenile polyposis syndrome	Uncertain significance (Sep 25, 2022)	criteria provided, single submitter
Select item 24250689.	NC_000010.10:g.(?_88635625)_(88683476_?)dup GRCh37: Chr10:88635625-88683476	BMPR1A		Juvenile polyposis syndrome	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 242506710.	NC_000010.10:g.(?_88676881)_(88683476_?)del GRCh37: Chr10:88676881-88683476	BMPR1A		Juvenile polyposis syndrome	Pathogenic (Jan 14, 2022)	criteria provided, single submitter
Select item 242506611.	NC_000010.10:g.(?_88676881)_(88679236_?)del GRCh37: Chr10:88676881-88679236	BMPR1A		Juvenile polyposis syndrome	Pathogenic (Jun 3, 2022)	criteria provided, single submitter
Select item 241703312.	NM_004329.3(BMPR1A):c.334-18T>G GRCh37: Chr10:88659533 GRCh38: Chr10:86899776	BMPR1A		Juvenile polyposis syndrome	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 241695013.	NM_005359.6(SMAD4):c.930C>T (p.Phe310=) GRCh37: Chr18:48586261 GRCh38: Chr18:51059891	SMAD4		Juvenile polyposis syndrome	Likely benign (Jul 28, 2022)	criteria provided, single submitter
Select item 220224814.	NM_005359.6(SMAD4):c.292C>G (p.Leu98Val) GRCh37: Chr18:48575098 GRCh38: Chr18:51048728	SMAD4	L98V	Juvenile polyposis syndrome	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 220072915.	NM_005359.6(SMAD4):c.139C>T (p.Leu47=) GRCh37: Chr18:48573555 GRCh38: Chr18:51047185	SMAD4		Juvenile polyposis syndrome	Likely benign (Apr 7, 2022)	criteria provided, single submitter
Select item 219804316.	NM_004329.3(BMPR1A):c.533A>G (p.His178Arg) GRCh37: Chr10:88671999 GRCh38: Chr10:86912242	BMPR1A	H178R, H194R, H150R, H203R	Juvenile polyposis syndrome	Uncertain significance (Aug 13, 2022)	criteria provided, single submitter
Select item 219721317.	NM_004329.3(BMPR1A):c.857A>T (p.Glu286Val) GRCh37: Chr10:88677072 GRCh38: Chr10:86917315	BMPR1A	E284V, E172V, E302V, E258V, E286V, E311V	Juvenile polyposis syndrome	Uncertain significance (Sep 3, 2022)	criteria provided, single submitter
Select item 219671918.	NM_004329.3(BMPR1A):c.842T>C (p.Val281Ala) GRCh37: Chr10:88677057 GRCh38: Chr10:86917300	BMPR1A	V281A, V167A, V253A, V279A, V297A, V306A	Juvenile polyposis syndrome	Uncertain significance (Apr 24, 2022)	criteria provided, single submitter
Select item 219007619.	NM_005359.6(SMAD4):c.249+12A>G GRCh37: Chr18:48573677 GRCh38: Chr18:51047307	SMAD4		Juvenile polyposis syndrome	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 218903520.	NM_005359.6(SMAD4):c.1171T>C (p.Cys391Arg) GRCh37: Chr18:48593420 GRCh38: Chr18:51067050	SMAD4	C391R	Juvenile polyposis syndrome	Uncertain significance (Dec 9, 2021)	criteria provided, single submitter
Select item 218123521.	NM_005359.6(SMAD4):c.455-19T>C GRCh37: Chr18:48581132 GRCh38: Chr18:51054762	SMAD4		Juvenile polyposis syndrome	Likely benign (Aug 29, 2022)	criteria provided, single submitter
Select item 218010522.	NM_005359.6(SMAD4):c.454G>A (p.Ala152Thr) GRCh37: Chr18:48575694 GRCh38: Chr18:51049324	SMAD4	A152T	Juvenile polyposis syndrome	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 217956523.	NM_005359.6(SMAD4):c.2T>C (p.Met1Thr) GRCh37: Chr18:48573418 GRCh38: Chr18:51047048	SMAD4	M1T	Juvenile polyposis syndrome	Uncertain significance (May 19, 2022)	criteria provided, single submitter
Select item 217411724.	NM_004329.3(BMPR1A):c.1062A>G (p.Gly354=) GRCh37: Chr10:88679122 GRCh38: Chr10:86919365	BMPR1A		Juvenile polyposis syndrome	Likely benign (May 28, 2022)	criteria provided, single submitter
Select item 217188525.	NM_004329.3(BMPR1A):c.706A>G (p.Met236Val) GRCh37: Chr10:88676921 GRCh38: Chr10:86917164	BMPR1A	M122V, M234V, M236V, M208V, M252V, M261V	Juvenile polyposis syndrome	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 216813526.	NM_004329.3(BMPR1A):c.868+10C>T GRCh37: Chr10:88677093 GRCh38: Chr10:86917336	BMPR1A		Juvenile polyposis syndrome	Likely benign (Sep 10, 2022)	criteria provided, single submitter
Select item 216760927.	NM_004329.3(BMPR1A):c.675+11C>T GRCh37: Chr10:88672152 GRCh38: Chr10:86912395	BMPR1A		Juvenile polyposis syndrome	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 216622428.	NM_004329.3(BMPR1A):c.169C>A (p.Pro57Thr) GRCh37: Chr10:88649920 GRCh38: Chr10:86890163	BMPR1A	P29T, P57T	Juvenile polyposis syndrome	Uncertain significance (Oct 4, 2022)	criteria provided, single submitter
Select item 216508129.	NM_005359.6(SMAD4):c.1448-15A>C GRCh37: Chr18:48604611 GRCh38: Chr18:51078241	SMAD4		Juvenile polyposis syndrome	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 216448530.	NM_004329.3(BMPR1A):c.676-16A>G GRCh37: Chr10:88676875 GRCh38: Chr10:86917118	BMPR1A		Juvenile polyposis syndrome	Likely benign (Jul 22, 2022)	criteria provided, single submitter
Select item 216367131.	NM_004329.3(BMPR1A):c.654T>C (p.Ser218=) GRCh37: Chr10:88672120 GRCh38: Chr10:86912363	BMPR1A		Juvenile polyposis syndrome	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 216357632.	NM_004329.3(BMPR1A):c.1474-8C>A GRCh37: Chr10:88683343 GRCh38: Chr10:86923586	BMPR1A		Juvenile polyposis syndrome	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 216328633.	NM_005359.6(SMAD4):c.117A>G (p.Ala39=) GRCh37: Chr18:48573533 GRCh38: Chr18:51047163	SMAD4		Juvenile polyposis syndrome	Likely benign (Jan 6, 2022)	criteria provided, single submitter
Select item 216048434.	NM_005359.6(SMAD4):c.1308+16A>G GRCh37: Chr18:48593573 GRCh38: Chr18:51067203	SMAD4		Juvenile polyposis syndrome	Likely benign (Sep 3, 2022)	criteria provided, single submitter
Select item 216041735.	NM_005359.6(SMAD4):c.668-14T>G GRCh37: Chr18:48584481 GRCh38: Chr18:51058111	SMAD4		Juvenile polyposis syndrome	Likely benign (Feb 27, 2022)	criteria provided, single submitter
Select item 215903336.	NM_004329.3(BMPR1A):c.1473+8G>A GRCh37: Chr10:88683271 GRCh38: Chr10:86923514	BMPR1A		Juvenile polyposis syndrome	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 215880037.	NM_005359.6(SMAD4):c.1309-17A>G GRCh37: Chr18:48602991 GRCh38: Chr18:51076621	SMAD4		Juvenile polyposis syndrome	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 215689438.	NM_005359.6(SMAD4):c.454+12G>C GRCh37: Chr18:48575706 GRCh38: Chr18:51049336	SMAD4		Juvenile polyposis syndrome	Likely benign (Sep 21, 2022)	criteria provided, single submitter
Select item 215634339.	NM_004329.3(BMPR1A):c.984C>T (p.Thr328=) GRCh37: Chr10:88679044 GRCh38: Chr10:86919287	BMPR1A		Juvenile polyposis syndrome	Likely benign (Oct 23, 2022)	criteria provided, single submitter
Select item 215531240.	NM_004329.3(BMPR1A):c.1443A>C (p.Pro481=) GRCh37: Chr10:88683233 GRCh38: Chr10:86923476	BMPR1A		Juvenile polyposis syndrome	Likely benign (Feb 11, 2022)	criteria provided, single submitter
Select item 215523341.	NM_005359.6(SMAD4):c.847C>T (p.His283Tyr) GRCh37: Chr18:48584769 GRCh38: Chr18:51058399	SMAD4	H283Y	Juvenile polyposis syndrome	Uncertain significance (Aug 14, 2021)	criteria provided, single submitter
Select item 215445242.	NM_005359.6(SMAD4):c.1139+14A>C GRCh37: Chr18:48591990 GRCh38: Chr18:51065620	SMAD4		Juvenile polyposis syndrome	Likely benign (Jan 22, 2022)	criteria provided, single submitter
Select item 215423143.	NM_004329.3(BMPR1A):c.982A>G (p.Thr328Ala) GRCh37: Chr10:88679042 GRCh38: Chr10:86919285	BMPR1A	T344A, T353A, T214A, T328A, T300A, T326A	Juvenile polyposis syndrome	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 215356544.	NM_004329.3(BMPR1A):c.858A>C (p.Glu286Asp) GRCh37: Chr10:88677073 GRCh38: Chr10:86917316	BMPR1A	E286D, E302D, E258D, E284D, E172D, E311D	Juvenile polyposis syndrome	Uncertain significance (Apr 4, 2022)	criteria provided, single submitter
Select item 215353945.	NM_005359.6(SMAD4):c.425-12T>C GRCh37: Chr18:48575653 GRCh38: Chr18:51049283	SMAD4		Juvenile polyposis syndrome	Likely benign (Feb 10, 2022)	criteria provided, single submitter
Select item 215258446.	NM_004329.3(BMPR1A):c.230+12A>C GRCh37: Chr10:88649993 GRCh38: Chr10:86890236	BMPR1A		Juvenile polyposis syndrome	Likely benign (Feb 10, 2022)	criteria provided, single submitter
Select item 214995747.	NM_005359.6(SMAD4):c.904+20G>A GRCh37: Chr18:48584846 GRCh38: Chr18:51058476	SMAD4		Juvenile polyposis syndrome	Likely benign (May 16, 2022)	criteria provided, single submitter
Select item 214711848.	NM_005359.6(SMAD4):c.1371A>T (p.Ala457=) GRCh37: Chr18:48603070 GRCh38: Chr18:51076700	SMAD4		Juvenile polyposis syndrome	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 214705049.	NM_005359.6(SMAD4):c.1572G>T (p.Trp524Cys) GRCh37: Chr18:48604750 GRCh38: Chr18:51078380	SMAD4	W524C	Juvenile polyposis syndrome	Likely pathogenic (Jul 6, 2022)	criteria provided, single submitter
Select item 214119350.	NM_004329.3(BMPR1A):c.676-18T>C GRCh37: Chr10:88676873 GRCh38: Chr10:86917116	BMPR1A		Juvenile polyposis syndrome	Likely benign (Jul 31, 2022)	criteria provided, single submitter
Select item 214027251.	NM_004329.3(BMPR1A):c.509T>G (p.Phe170Cys) GRCh37: Chr10:88659862 GRCh38: Chr10:86900105	BMPR1A	F170C, F142C	Juvenile polyposis syndrome	Uncertain significance (Mar 16, 2022)	criteria provided, single submitter
Select item 213923652.	NM_005359.6(SMAD4):c.905-11C>G GRCh37: Chr18:48586225 GRCh38: Chr18:51059855	SMAD4		Juvenile polyposis syndrome	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 213913653.	NM_005359.6(SMAD4):c.668-13_668-11del GRCh37: Chr18:48584478-48584480 GRCh38: Chr18:51058108-51058110	SMAD4		Juvenile polyposis syndrome	Likely benign (May 16, 2022)	criteria provided, single submitter
Select item 213815554.	NM_005359.6(SMAD4):c.538C>T (p.Gln180Ter) GRCh37: Chr18:48581234 GRCh38: Chr18:51054864	SMAD4	Q180*	Juvenile polyposis syndrome	Pathogenic (Jul 29, 2022)	criteria provided, single submitter
Select item 213690655.	NM_004329.3(BMPR1A):c.431-1G>A GRCh37: Chr10:88659783 GRCh38: Chr10:86900026	BMPR1A		Juvenile polyposis syndrome	Likely pathogenic (Sep 27, 2022)	criteria provided, single submitter
Select item 213690556.	NM_004329.3(BMPR1A):c.359G>C (p.Arg120Pro) GRCh37: Chr10:88659576 GRCh38: Chr10:86899819	BMPR1A	R120P, R92P	Juvenile polyposis syndrome	Uncertain significance (Sep 25, 2022)	criteria provided, single submitter
Select item 213690457.	NM_004329.3(BMPR1A):c.245G>A (p.Cys82Tyr) GRCh37: Chr10:88651898 GRCh38: Chr10:86892141	BMPR1A	C82Y, C54Y	Juvenile polyposis syndrome	Uncertain significance (Jul 31, 2022)	criteria provided, single submitter
Select item 213473558.	NM_005359.6(SMAD4):c.1650T>C (p.Pro550=) GRCh37: Chr18:48604828 GRCh38: Chr18:51078458	SMAD4		Juvenile polyposis syndrome	Likely benign (May 6, 2022)	criteria provided, single submitter
Select item 213452359.	NM_004329.3(BMPR1A):c.794C>A (p.Thr265Asn) GRCh37: Chr10:88677009 GRCh38: Chr10:86917252	BMPR1A	T151N, T281N, T265N, T290N, T237N, T263N	Juvenile polyposis syndrome	Uncertain significance (Nov 24, 2021)	criteria provided, single submitter
Select item 213437960.	NM_005359.6(SMAD4):c.425-9A>G GRCh37: Chr18:48575656 GRCh38: Chr18:51049286	SMAD4		Juvenile polyposis syndrome	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 213389661.	NM_005359.6(SMAD4):c.156T>G (p.Asp52Glu) GRCh37: Chr18:48573572 GRCh38: Chr18:51047202	SMAD4	D52E	Juvenile polyposis syndrome	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 213384662.	NM_005359.6(SMAD4):c.424+9A>C GRCh37: Chr18:48575239 GRCh38: Chr18:51048869	SMAD4		Juvenile polyposis syndrome	Likely benign (May 4, 2022)	criteria provided, single submitter
Select item 213127063.	NM_004329.3(BMPR1A):c.431-17T>C GRCh37: Chr10:88659767 GRCh38: Chr10:86900010	BMPR1A		Juvenile polyposis syndrome	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 213102864.	NM_005359.6(SMAD4):c.894C>G (p.Pro298=) GRCh37: Chr18:48584816 GRCh38: Chr18:51058446	SMAD4		Juvenile polyposis syndrome	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 213100565.	NM_004329.3(BMPR1A):c.1342+8T>A GRCh37: Chr10:88681460 GRCh38: Chr10:86921703	BMPR1A		Juvenile polyposis syndrome	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 213097366.	NM_005359.6(SMAD4):c.1260T>C (p.Arg420=) GRCh37: Chr18:48593509 GRCh38: Chr18:51067139	SMAD4		Juvenile polyposis syndrome	Likely benign (Apr 27, 2022)	criteria provided, single submitter
Select item 212878867.	NM_005359.6(SMAD4):c.1257G>T (p.Gly419=) GRCh37: Chr18:48593506 GRCh38: Chr18:51067136	SMAD4		Juvenile polyposis syndrome	Likely benign (Jul 22, 2022)	criteria provided, single submitter
Select item 212827268.	NM_004329.3(BMPR1A):c.1473+13del GRCh37: Chr10:88683276 GRCh38: Chr10:86923519	BMPR1A		Juvenile polyposis syndrome	Likely benign (Apr 20, 2022)	criteria provided, single submitter
Select item 212684169.	NM_005359.6(SMAD4):c.1308+16A>T GRCh37: Chr18:48593573 GRCh38: Chr18:51067203	SMAD4		Juvenile polyposis syndrome	Likely benign (Apr 16, 2022)	criteria provided, single submitter
Select item 212683970.	NM_004329.3(BMPR1A):c.1299C>G (p.Phe433Leu) GRCh37: Chr10:88681409 GRCh38: Chr10:86921652	BMPR1A	F319L, F431L, F405L, F433L, F449L, F458L	Juvenile polyposis syndrome	Uncertain significance (Apr 16, 2022)	criteria provided, single submitter
Select item 212587971.	NM_004329.3(BMPR1A):c.1418T>C (p.Val473Ala) GRCh37: Chr10:88683208 GRCh38: Chr10:86923451	BMPR1A	V471A, V473A, V489A, V359A, V445A, V498A	Juvenile polyposis syndrome	Uncertain significance (Apr 13, 2022)	criteria provided, single submitter
Select item 212536572.	NM_005359.6(SMAD4):c.892C>T (p.Pro298Ser) GRCh37: Chr18:48584814 GRCh38: Chr18:51058444	SMAD4	P298S	Juvenile polyposis syndrome	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 212530373.	NM_004329.3(BMPR1A):c.650G>T (p.Gly217Val) GRCh37: Chr10:88672116 GRCh38: Chr10:86912359	BMPR1A	G217V, G242V, G189V, G233V	Juvenile polyposis syndrome	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 212312674.	NM_005359.6(SMAD4):c.1420T>A (p.Ser474Thr) GRCh37: Chr18:48603119 GRCh38: Chr18:51076749	SMAD4	S474T	Juvenile polyposis syndrome	Uncertain significance (Apr 8, 2022)	criteria provided, single submitter
Select item 212308175.	NM_004329.3(BMPR1A):c.1342+19_1342+30del GRCh37: Chr10:88681468-88681479 GRCh38: Chr10:86921711-86921722	BMPR1A		Juvenile polyposis syndrome	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 212307376.	NM_004329.3(BMPR1A):c.1150G>A (p.Ala384Thr) GRCh37: Chr10:88679210 GRCh38: Chr10:86919453	BMPR1A	A384T, A356T, A382T, A409T, A270T, A400T	Juvenile polyposis syndrome	Uncertain significance (Apr 8, 2022)	criteria provided, single submitter
Select item 212283477.	NM_005359.6(SMAD4):c.250-5del GRCh37: Chr18:48575047 GRCh38: Chr18:51048677	SMAD4		Juvenile polyposis syndrome	Benign (Apr 8, 2022)	criteria provided, single submitter
Select item 212235578.	NM_005359.6(SMAD4):c.495C>T (p.Asp165=) GRCh37: Chr18:48581191 GRCh38: Chr18:51054821	SMAD4		Juvenile polyposis syndrome	Likely benign (Apr 7, 2022)	criteria provided, single submitter
Select item 212132379.	NM_005359.6(SMAD4):c.1357A>G (p.Thr453Ala) GRCh37: Chr18:48603056 GRCh38: Chr18:51076686	SMAD4	T453A	Juvenile polyposis syndrome	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 212092780.	NM_004329.3(BMPR1A):c.1396T>C (p.Ser466Pro) GRCh37: Chr10:88683186 GRCh38: Chr10:86923429	BMPR1A	S352P, S438P, S464P, S491P, S482P, S466P	Juvenile polyposis syndrome	Uncertain significance (Apr 2, 2022)	criteria provided, single submitter
Select item 212031381.	NM_005359.6(SMAD4):c.1537T>A (p.Tyr513Asn) GRCh37: Chr18:48604715 GRCh38: Chr18:51078345	SMAD4	Y513N	Juvenile polyposis syndrome	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 212009382.	NM_004329.3(BMPR1A):c.390T>C (p.Cys130=) GRCh37: Chr10:88659607 GRCh38: Chr10:86899850	BMPR1A		Juvenile polyposis syndrome	Likely benign (Apr 1, 2022)	criteria provided, single submitter
Select item 211997583.	NM_005359.6(SMAD4):c.33A>T (p.Thr11=) GRCh37: Chr18:48573449 GRCh38: Chr18:51047079	SMAD4		Juvenile polyposis syndrome	Likely benign (Mar 31, 2022)	criteria provided, single submitter
Select item 211828784.	NM_004329.3(BMPR1A):c.530+9A>G GRCh37: Chr10:88659892 GRCh38: Chr10:86900135	BMPR1A		Juvenile polyposis syndrome	Uncertain significance (Mar 27, 2022)	criteria provided, single submitter
Select item 211788185.	NM_005359.6(SMAD4):c.130G>T (p.Val44Leu) GRCh37: Chr18:48573546 GRCh38: Chr18:51047176	SMAD4	V44L	Juvenile polyposis syndrome	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 211781486.	NM_005359.6(SMAD4):c.766C>T (p.Gln256Ter) GRCh37: Chr18:48584593 GRCh38: Chr18:51058223	SMAD4	Q256*	Juvenile polyposis syndrome	Pathogenic (Aug 30, 2022)	criteria provided, single submitter
Select item 211637787.	NM_005359.6(SMAD4):c.1586T>G (p.Leu529Ter) GRCh37: Chr18:48604764 GRCh38: Chr18:51078394	SMAD4	L529*	Juvenile polyposis syndrome	Pathogenic (Aug 16, 2022)	criteria provided, single submitter
Select item 211593388.	NM_005359.6(SMAD4):c.667+6T>A GRCh37: Chr18:48581369 GRCh38: Chr18:51054999	SMAD4		Juvenile polyposis syndrome	Uncertain significance (Mar 23, 2022)	criteria provided, single submitter
Select item 211592789.	NM_005359.6(SMAD4):c.420A>G (p.Gly140=) GRCh37: Chr18:48575226 GRCh38: Chr18:51048856	SMAD4		Juvenile polyposis syndrome	Likely benign (Mar 23, 2022)	criteria provided, single submitter
Select item 211550390.	NM_005359.6(SMAD4):c.454+20C>G GRCh37: Chr18:48575714 GRCh38: Chr18:51049344	SMAD4		Juvenile polyposis syndrome	Likely benign (Mar 21, 2022)	criteria provided, single submitter
Select item 211367291.	NM_005359.6(SMAD4):c.170_173del (p.Ser56_Leu57insTer) GRCh37: Chr18:48573585-48573588 GRCh38: Chr18:51047215-51047218	SMAD4		Juvenile polyposis syndrome	Pathogenic (Mar 18, 2022)	criteria provided, single submitter
Select item 211182592.	NM_004329.3(BMPR1A):c.530+17T>G GRCh37: Chr10:88659900 GRCh38: Chr10:86900143	BMPR1A		Juvenile polyposis syndrome	Likely benign (Mar 14, 2022)	criteria provided, single submitter
Select item 211181893.	NM_004329.3(BMPR1A):c.166T>C (p.Leu56=) GRCh37: Chr10:88649917 GRCh38: Chr10:86890160	BMPR1A		Juvenile polyposis syndrome	Likely benign (Mar 14, 2022)	criteria provided, single submitter
Select item 211170694.	NM_005359.6(SMAD4):c.340T>G (p.Tyr114Asp) GRCh37: Chr18:48575146 GRCh38: Chr18:51048776	SMAD4	Y114D	Juvenile polyposis syndrome	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 210984195.	NM_004329.3(BMPR1A):c.746G>A (p.Trp249Ter) GRCh37: Chr10:88676961 GRCh38: Chr10:86917204	BMPR1A	W274, W221, W247, W265, W135, W249	Juvenile polyposis syndrome	Pathogenic (Mar 12, 2022)	criteria provided, single submitter
Select item 210980996.	NM_004329.3(BMPR1A):c.430+11C>G GRCh37: Chr10:88659658 GRCh38: Chr10:86899901	BMPR1A		Juvenile polyposis syndrome	Likely benign (Mar 12, 2022)	criteria provided, single submitter
Select item 210850197.	NM_005359.6(SMAD4):c.778_779dup (p.His261fs) GRCh37: Chr18:48584604-48584605 GRCh38: Chr18:51058234-51058235	SMAD4	H261fs	Juvenile polyposis syndrome	Pathogenic (Mar 10, 2022)	criteria provided, single submitter
Select item 210839398.	NM_005359.6(SMAD4):c.455-18G>A GRCh37: Chr18:48581133 GRCh38: Chr18:51054763	SMAD4		Juvenile polyposis syndrome	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 210707199.	NM_004329.3(BMPR1A):c.1239G>A (p.Leu413=) GRCh37: Chr10:88681349 GRCh38: Chr10:86921592	BMPR1A		Juvenile polyposis syndrome	Likely benign (Mar 5, 2022)	criteria provided, single submitter
Select item 2106582100.	NM_005359.6(SMAD4):c.1204C>A (p.Leu402Ile) GRCh37: Chr18:48593453 GRCh38: Chr18:51067083	SMAD4	L402I	Juvenile polyposis syndrome	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter

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