ClinVar for Gene (Select 657) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24998631.	NM_004329.3(BMPR1A):c.1194G>C (p.Leu398Phe) GRCh37: Chr10:88681304 GRCh38: Chr10:86921547	BMPR1A	L284F, L370F, L396F, L398F, L414F, L423F	not provided	Uncertain significance (Oct 20, 2022)	criteria provided, single submitter
Select item 24975522.	NM_004329.3(BMPR1A):c.1166+731A>G GRCh37: Chr10:88679957 GRCh38: Chr10:86920200	BMPR1A		Hereditary cancer-predisposing syndrome	Likely pathogenic (Dec 9, 2022)	criteria provided, single submitter
Select item 24562113.	NM_004329.3(BMPR1A):c.272A>G (p.Gln91Arg) GRCh37: Chr10:88651925 GRCh38: Chr10:86892168	BMPR1A	Q63R, Q91R	Hereditary cancer-predisposing syndrome	Uncertain significance (Jan 22, 2023)	criteria provided, single submitter
Select item 24502854.	NM_004329.3(BMPR1A):c.1350G>A (p.Val450=) GRCh37: Chr10:88683140 GRCh38: Chr10:86923383	BMPR1A		Hereditary cancer-predisposing syndrome	Likely benign (Mar 9, 2023)	criteria provided, single submitter
Select item 24502845.	NM_004329.3(BMPR1A):c.317C>T (p.Ser106Phe) GRCh37: Chr10:88651970 GRCh38: Chr10:86892213	BMPR1A	S106F, S78F	Hereditary cancer-predisposing syndrome	Uncertain significance (Feb 16, 2023)	criteria provided, single submitter
Select item 24502836.	NM_004329.3(BMPR1A):c.753C>G (p.Gly251=) GRCh37: Chr10:88676968 GRCh38: Chr10:86917211	BMPR1A		Hereditary cancer-predisposing syndrome	Likely benign (Feb 3, 2023)	criteria provided, single submitter
Select item 24502827.	NM_004329.3(BMPR1A):c.951C>A (p.Leu317=) GRCh37: Chr10:88679011 GRCh38: Chr10:86919254	BMPR1A		Hereditary cancer-predisposing syndrome	Likely benign (Jan 27, 2023)	criteria provided, single submitter
Select item 24502808.	NM_004329.3(BMPR1A):c.306A>G (p.Lys102=) GRCh37: Chr10:88651959 GRCh38: Chr10:86892202	BMPR1A		Hereditary cancer-predisposing syndrome	Likely benign (Jan 22, 2023)	criteria provided, single submitter
Select item 24502799.	NM_004329.3(BMPR1A):c.868+4_868+5dup GRCh37: Chr10:88677085-88677086 GRCh38: Chr10:86917328-86917329	BMPR1A		Hereditary cancer-predisposing syndrome	Uncertain significance (Feb 5, 2023)	criteria provided, single submitter
Select item 245027810.	NM_004329.3(BMPR1A):c.1557G>A (p.Lys519=) GRCh37: Chr10:88683434 GRCh38: Chr10:86923677	BMPR1A		Hereditary cancer-predisposing syndrome	Likely benign (Jan 9, 2023)	criteria provided, single submitter
Select item 245027711.	NM_004329.3(BMPR1A):c.144A>G (p.Val48=) GRCh37: Chr10:88649895 GRCh38: Chr10:86890138	BMPR1A		Hereditary cancer-predisposing syndrome	Likely benign (Jan 8, 2023)	criteria provided, single submitter
Select item 245027612.	NM_004329.3(BMPR1A):c.147C>G (p.Thr49=) GRCh37: Chr10:88649898 GRCh38: Chr10:86890141	BMPR1A		Hereditary cancer-predisposing syndrome	Likely benign (Jan 2, 2023)	criteria provided, single submitter
Select item 245027513.	NM_004329.3(BMPR1A):c.1479A>T (p.Leu493=) GRCh37: Chr10:88683356 GRCh38: Chr10:86923599	BMPR1A		Hereditary cancer-predisposing syndrome	Likely benign (Jan 2, 2023)	criteria provided, single submitter
Select item 245027414.	NM_004329.3(BMPR1A):c.153A>C (p.Ala51=) GRCh37: Chr10:88649904 GRCh38: Chr10:86890147	BMPR1A		Hereditary cancer-predisposing syndrome	Likely benign (Jan 1, 2023)	criteria provided, single submitter
Select item 245027315.	NM_004329.3(BMPR1A):c.1083A>G (p.Arg361=) GRCh37: Chr10:88679143 GRCh38: Chr10:86919386	BMPR1A		Hereditary cancer-predisposing syndrome	Likely benign (Dec 24, 2022)	criteria provided, single submitter
Select item 245027216.	NM_004329.3(BMPR1A):c.1038C>T (p.His346=) GRCh37: Chr10:88679098 GRCh38: Chr10:86919341	BMPR1A		Hereditary cancer-predisposing syndrome	Likely benign (Dec 23, 2022)	criteria provided, single submitter
Select item 245027117.	NM_004329.3(BMPR1A):c.879G>T (p.Ala293=) GRCh37: Chr10:88678939 GRCh38: Chr10:86919182	BMPR1A		Hereditary cancer-predisposing syndrome	Likely benign (Dec 19, 2022)	criteria provided, single submitter
Select item 245027018.	NM_004329.3(BMPR1A):c.231-5_252dup GRCh37: Chr10:88651878-88651879 GRCh38: Chr10:86892121-86892122	BMPR1A		Hereditary cancer-predisposing syndrome	Uncertain significance (Dec 22, 2022)	criteria provided, single submitter
Select item 245026919.	NM_004329.3(BMPR1A):c.1594A>G (p.Ile532Val) GRCh37: Chr10:88683471 GRCh38: Chr10:86923714	BMPR1A	I418V, I530V, I557V, I532V, I504V, I548V	Hereditary cancer-predisposing syndrome	Uncertain significance (Dec 2, 2022)	criteria provided, single submitter
Select item 245026720.	NM_004329.3(BMPR1A):c.899G>A (p.Gly300Asp) GRCh37: Chr10:88678959 GRCh38: Chr10:86919202	BMPR1A	G300D, G316D, G272D, G325D, G186D, G298D	Hereditary cancer-predisposing syndrome	Uncertain significance (Nov 17, 2022)	criteria provided, single submitter
Select item 245026621.	NM_004329.3(BMPR1A):c.587A>C (p.Asp196Ala) GRCh37: Chr10:88672053 GRCh38: Chr10:86912296	BMPR1A	D221A, D212A, D168A, D196A	Hereditary cancer-predisposing syndrome	Uncertain significance (Nov 6, 2022)	criteria provided, single submitter
Select item 243953722.	NM_004329.3(BMPR1A):c.364A>G (p.Ile122Val) GRCh37: Chr10:88659581 GRCh38: Chr10:86899824	BMPR1A	I122V, I94V	not provided	Uncertain significance (Jul 31, 2022)	criteria provided, single submitter
Select item 243953623.	NM_004329.3(BMPR1A):c.647C>T (p.Ser216Phe) GRCh37: Chr10:88672113 GRCh38: Chr10:86912356	BMPR1A	S188F, S216F, S232F, S241F	not provided	Uncertain significance (Mar 1, 2019)	criteria provided, single submitter
Select item 242965224.	NM_004329.3(BMPR1A):c.964A>G (p.Lys322Glu) GRCh37: Chr10:88679024 GRCh38: Chr10:86919267	BMPR1A	K208E, K294E, K320E, K322E, K338E, K347E	not provided	Uncertain significance (Aug 11, 2022)	criteria provided, single submitter
Select item 242507025.	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 242506926.	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 242506827.	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 242506728.	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 242506629.	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 242286530.	NC_000010.10:g.(?_88428449)_(89725229_?)del GRCh37: Chr10:88428449-89725229	ADIRF, ADIRF-AS1, AGAP11, ATAD1, BMPR1A, FAM25A, GLUD1, KLLN, LDB3, MINPP1, MMRN2, NUTM2A, PAPSS2, PTEN, SHLD2, SNCG		PTEN hamartoma tumor syndrome	Pathogenic (Jul 4, 2022)	criteria provided, single submitter
Select item 241703331.	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 219804332.	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 219721333.	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 219671934.	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 217411735.	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 217188536.	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 216813537.	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 216760938.	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 216622439.	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 216448540.	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 216367141.	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 216357642.	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 215903343.	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 215634344.	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 215531245.	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 215423146.	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 215356547.	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 215258448.	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 214119349.	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 214027250.	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 213690651.	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 213690552.	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 213690453.	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 213452354.	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 213127055.	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 213100556.	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 212827257.	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 212683958.	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 212587959.	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 212530360.	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 212308161.	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 212307362.	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 212092763.	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 212009364.	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 211828765.	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 211182566.	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 211181867.	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 210984168.	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 210980969.	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 210707170.	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 210582271.	NM_004329.3(BMPR1A):c.809G>A (p.Ser270Asn) GRCh37: Chr10:88677024 GRCh38: Chr10:86917267	BMPR1A	S242N, S286N, S295N, S268N, S270N, S156N	Juvenile polyposis syndrome	Uncertain significance (Mar 3, 2022)	criteria provided, single submitter
Select item 210515272.	NM_004329.3(BMPR1A):c.1224G>T (p.Met408Ile) GRCh37: Chr10:88681334 GRCh38: Chr10:86921577	BMPR1A	M294I, M380I, M406I, M424I, M408I, M433I	Juvenile polyposis syndrome	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 210446873.	NM_004329.3(BMPR1A):c.530+6A>G GRCh37: Chr10:88659889 GRCh38: Chr10:86900132	BMPR1A		Juvenile polyposis syndrome	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 210084674.	NM_004329.3(BMPR1A):c.823A>G (p.Thr275Ala) GRCh37: Chr10:88677038 GRCh38: Chr10:86917281	BMPR1A	T291A, T247A, T273A, T161A, T275A, T300A	Juvenile polyposis syndrome	Uncertain significance (Feb 21, 2022)	criteria provided, single submitter
Select item 209970275.	NM_004329.3(BMPR1A):c.571C>A (p.Arg191Ser) GRCh37: Chr10:88672037 GRCh38: Chr10:86912280	BMPR1A	R207S, R216S, R163S, R191S	Juvenile polyposis syndrome	Uncertain significance (Feb 19, 2022)	criteria provided, single submitter
Select item 209956776.	NM_004329.3(BMPR1A):c.1539A>G (p.Thr513=) GRCh37: Chr10:88683416 GRCh38: Chr10:86923659	BMPR1A		Juvenile polyposis syndrome	Likely benign (Mar 27, 2022)	criteria provided, single submitter
Select item 209861777.	NM_004329.3(BMPR1A):c.182G>A (p.Cys61Tyr) GRCh37: Chr10:88649933 GRCh38: Chr10:86890176	BMPR1A	C61Y, C33Y	Juvenile polyposis syndrome	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 209682778.	NM_004329.3(BMPR1A):c.1061G>A (p.Gly354Glu) GRCh37: Chr10:88679121 GRCh38: Chr10:86919364	BMPR1A	G379E, G240E, G326E, G352E, G354E, G370E	Juvenile polyposis syndrome	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 209567579.	NM_004329.3(BMPR1A):c.416C>T (p.Pro139Leu) GRCh37: Chr10:88659633 GRCh38: Chr10:86899876	BMPR1A	P111L, P139L	Juvenile polyposis syndrome	Uncertain significance (Apr 29, 2022)	criteria provided, single submitter
Select item 209534080.	NM_004329.3(BMPR1A):c.230+5G>A GRCh37: Chr10:88649986 GRCh38: Chr10:86890229	BMPR1A		Juvenile polyposis syndrome	Uncertain significance (Dec 14, 2021)	criteria provided, single submitter
Select item 209408881.	NM_004329.3(BMPR1A):c.1158A>G (p.Lys386=) GRCh37: Chr10:88679218 GRCh38: Chr10:86919461	BMPR1A		Juvenile polyposis syndrome	Uncertain significance (Feb 6, 2022)	criteria provided, single submitter
Select item 209197082.	NM_004329.3(BMPR1A):c.561T>C (p.Arg187=) GRCh37: Chr10:88672027 GRCh38: Chr10:86912270	BMPR1A		Juvenile polyposis syndrome	Likely benign (Feb 2, 2022)	criteria provided, single submitter
Select item 209172283.	NM_004329.3(BMPR1A):c.364dup (p.Ile122fs) GRCh37: Chr10:88659579-88659580 GRCh38: Chr10:86899822-86899823	BMPR1A	I122fs	Juvenile polyposis syndrome	Pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 209092984.	NM_004329.3(BMPR1A):c.20A>C (p.Tyr7Ser) GRCh37: Chr10:88635795 GRCh38: Chr10:86876038	BMPR1A	Y7S	Juvenile polyposis syndrome	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 208996085.	NM_004329.3(BMPR1A):c.1343-11_1343-10delinsCC GRCh37: Chr10:88683122-88683123 GRCh38: Chr10:86923365-86923366	BMPR1A		Juvenile polyposis syndrome	Likely benign (Jan 26, 2022)	criteria provided, single submitter
Select item 208884886.	NM_004329.3(BMPR1A):c.787T>C (p.Phe263Leu) GRCh37: Chr10:88677002 GRCh38: Chr10:86917245	BMPR1A	F149L, F279L, F288L, F261L, F235L, F263L	Juvenile polyposis syndrome	Uncertain significance (Jan 21, 2022)	criteria provided, single submitter
Select item 208723287.	NM_004329.3(BMPR1A):c.1171dup (p.Thr391fs) GRCh37: Chr10:88681280-88681281 GRCh38: Chr10:86921523-86921524	BMPR1A	T391fs	Juvenile polyposis syndrome	Pathogenic (Apr 5, 2022)	criteria provided, single submitter
Select item 208568288.	NM_004329.3(BMPR1A):c.1343-8C>G GRCh37: Chr10:88683125 GRCh38: Chr10:86923368	BMPR1A		Juvenile polyposis syndrome	Likely benign (Jun 8, 2022)	criteria provided, single submitter
Select item 208297489.	NM_004329.3(BMPR1A):c.413T>G (p.Leu138Arg) GRCh37: Chr10:88659630 GRCh38: Chr10:86899873	BMPR1A	L110R, L138R	Juvenile polyposis syndrome	Uncertain significance (Jan 15, 2022)	criteria provided, single submitter
Select item 208168190.	NM_004329.3(BMPR1A):c.1331G>A (p.Cys444Tyr) GRCh37: Chr10:88681441 GRCh38: Chr10:86921684	BMPR1A	C442Y, C416Y, C444Y, C460Y, C330Y, C469Y	Juvenile polyposis syndrome	Uncertain significance (Feb 15, 2022)	criteria provided, single submitter
Select item 207374291.	NM_004329.3(BMPR1A):c.1167-19T>C GRCh37: Chr10:88681258 GRCh38: Chr10:86921501	BMPR1A		Juvenile polyposis syndrome	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 206850692.	NM_004329.3(BMPR1A):c.104T>G (p.Met35Arg) GRCh37: Chr10:88649855 GRCh38: Chr10:86890098	BMPR1A	M35R, M7R	Juvenile polyposis syndrome	Uncertain significance (Apr 19, 2022)	criteria provided, single submitter
Select item 206790193.	NM_004329.3(BMPR1A):c.1445T>C (p.Ile482Thr) GRCh37: Chr10:88683235 GRCh38: Chr10:86923478	BMPR1A	I480T, I368T, I498T, I507T, I454T, I482T	Juvenile polyposis syndrome	Uncertain significance (Dec 31, 2021)	criteria provided, single submitter
Select item 206628894.	NM_004329.3(BMPR1A):c.1089A>T (p.Leu363=) GRCh37: Chr10:88679149 GRCh38: Chr10:86919392	BMPR1A		Juvenile polyposis syndrome	Likely benign (Dec 30, 2021)	criteria provided, single submitter
Select item 206454795.	NM_004329.3(BMPR1A):c.1166+4A>G GRCh37: Chr10:88679230 GRCh38: Chr10:86919473	BMPR1A		Juvenile polyposis syndrome	Uncertain significance (May 21, 2022)	criteria provided, single submitter
Select item 206443596.	NM_004329.3(BMPR1A):c.1473+10A>T GRCh37: Chr10:88683273 GRCh38: Chr10:86923516	BMPR1A		Juvenile polyposis syndrome	Likely benign (Dec 29, 2021)	criteria provided, single submitter
Select item 205797797.	NM_004329.3(BMPR1A):c.1132A>G (p.Ile378Val) GRCh37: Chr10:88679192 GRCh38: Chr10:86919435	BMPR1A	I376V, I264V, I378V, I394V, I350V, I403V	Juvenile polyposis syndrome	Uncertain significance (Dec 24, 2021)	criteria provided, single submitter
Select item 205513198.	NM_004329.3(BMPR1A):c.67+9G>C GRCh37: Chr10:88635851 GRCh38: Chr10:86876094	BMPR1A		Juvenile polyposis syndrome	Likely benign (Dec 23, 2021)	criteria provided, single submitter
Select item 205493399.	NM_004329.3(BMPR1A):c.729C>G (p.Gly243=) GRCh37: Chr10:88676944 GRCh38: Chr10:86917187	BMPR1A		Juvenile polyposis syndrome	Likely benign (Dec 23, 2021)	criteria provided, single submitter
Select item 2054464100.	NM_004329.3(BMPR1A):c.424_426del (p.Val142del) GRCh37: Chr10:88659641-88659643 GRCh38: Chr10:86899884-86899886	BMPR1A	V114del, V142del	Juvenile polyposis syndrome	Uncertain significance (Dec 23, 2021)	criteria provided, single submitter

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