ClinVar for Gene (Select 657) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3379368	NM_004329.3(BMPR1A):c.117C>A (p.Ser39=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GBenign
Select item 3379354	NM_004329.3(BMPR1A):c.676-19T>C	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 3379334	NM_004329.3(BMPR1A):c.431-19T>C	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 3379332	NM_004329.3(BMPR1A):c.675+9A>G	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 3379319	NM_004329.3(BMPR1A):c.642A>G (p.Gln214=)	BMPR1A	Single nucleotide variant (synonymous variant +2 more)	Juvenile polyposis syndrome	GBenign
Select item 3379318	NM_004329.3(BMPR1A):c.1527C>T (p.Ala509=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GBenign
Select item 3379314	NM_004329.3(BMPR1A):c.817C>A (p.Arg273=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GBenign
Select item 3379304	NM_004329.3(BMPR1A):c.1474-20A>T	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 3379303	NM_004329.3(BMPR1A):c.315A>T (p.Gly105=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GBenign
Select item 3379302	NM_004329.3(BMPR1A):c.1065G>A (p.Lys355=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GBenign
Select item 3379295	NM_004329.3(BMPR1A):c.912G>A (p.Gln304=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GBenign
Select item 3379290	NM_004329.3(BMPR1A):c.525T>C (p.Cys175=)	BMPR1A	Single nucleotide variant (synonymous variant +2 more)	Juvenile polyposis syndrome	GBenign
Select item 3379222	NM_004329.3(BMPR1A):c.486C>G (p.Val162=)	BMPR1A	Single nucleotide variant (synonymous variant +2 more)	Juvenile polyposis syndrome	GBenign
Select item 3379209	NM_004329.3(BMPR1A):c.67+6dup	BMPR1A	Duplication (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 3379206	NM_004329.3(BMPR1A):c.1342+10dup	BMPR1A	Duplication (intron variant)	Juvenile polyposis syndrome	GBenign
Select item 3379198	NM_004329.3(BMPR1A):c.67+8A>T	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 3379196	NM_004329.3(BMPR1A):c.1305A>T (p.Leu435=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GBenign
Select item 3379168	NM_004329.3(BMPR1A):c.681G>A (p.Gln227=)	BMPR1A	Single nucleotide variant (synonymous variant +2 more)	Juvenile polyposis syndrome	GBenign
Select item 3379157	NM_004329.3(BMPR1A):c.230+8T>G	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 3379146	NM_004329.3(BMPR1A):c.627T>G (p.Leu209=)	BMPR1A	Single nucleotide variant (synonymous variant +2 more)	Juvenile polyposis syndrome	GBenign
Select item 3379145	NM_004329.3(BMPR1A):c.1474-9dup	BMPR1A	Duplication (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 3379122	NM_004329.3(BMPR1A):c.9_13delinsACATT	BMPR1A	Indel (3 prime UTR variant +1 more)	Juvenile polyposis syndrome	GBenign
Select item 3379085	NM_004329.3(BMPR1A):c.1473+6_1473+10dup	BMPR1A	Duplication (intron variant)	Juvenile polyposis syndrome	GBenign
Select item 3379080	NM_004329.3(BMPR1A):c.603A>C (p.Pro201=)	BMPR1A	Single nucleotide variant (synonymous variant +2 more)	Juvenile polyposis syndrome	GBenign
Select item 3379056	NM_004329.3(BMPR1A):c.216T>A (p.Ile72=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GBenign
Select item 3379052	NM_004329.3(BMPR1A):c.945A>T (p.Gly315=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GBenign
Select item 3379049	NM_004329.3(BMPR1A):c.825A>G (p.Thr275=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GBenign
Select item 3379031	NM_004329.3(BMPR1A):c.1343-19T>C	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 3379024	NM_004329.3(BMPR1A):c.855T>C (p.His285=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GBenign
Select item 3379021	NM_004329.3(BMPR1A):c.*3G>C	BMPR1A	Single nucleotide variant (3 prime UTR variant +1 more)	Juvenile polyposis syndrome	GBenign
Select item 3379018	NM_004329.3(BMPR1A):c.675+7del	BMPR1A	Deletion (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 3379012	NM_004329.3(BMPR1A):c.1343-12_1343-9del	BMPR1A	Deletion (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 3378999	NM_004329.3(BMPR1A):c.1474-10dup	BMPR1A	Duplication (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 3378988	NM_004329.3(BMPR1A):c.334-8del	BMPR1A	Deletion (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 3378937	NM_004329.3(BMPR1A):c.231-19_231-18dup	BMPR1A	Duplication (intron variant)	Juvenile polyposis syndrome	GBenign
Select item 3378921	NM_004329.3(BMPR1A):c.1005T>A (p.Ala335=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GBenign
Select item 3378902	NM_004329.3(BMPR1A):c.676-17dup	BMPR1A	Duplication (intron variant)	Juvenile polyposis syndrome	GBenign
Select item 3378894	NM_004329.3(BMPR1A):c.68-19A>C	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 3378891	NM_004329.3(BMPR1A):c.675+10A>T	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 3378883	NM_004329.3(BMPR1A):c.231-33TGTTT[2]	BMPR1A	Microsatellite (intron variant)	Juvenile polyposis syndrome	GBenign
Select item 3378880	NM_004329.3(BMPR1A):c.1041A>T (p.Thr347=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GBenign
Select item 3378871	NM_004329.3(BMPR1A):c.431-21_431-13del	BMPR1A	Microsatellite (intron variant)	Juvenile polyposis syndrome	GBenign
Select item 3378869	NM_004329.3(BMPR1A):c.531-5A>T	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 3378868	NM_004329.3(BMPR1A):c.915C>T (p.Leu305=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GBenign
Select item 3378851	NM_004329.3(BMPR1A):c.531-6dup	BMPR1A	Duplication (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 3378845	NM_004329.3(BMPR1A):c.294A>T (p.Ser98=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GBenign
Select item 3378829	NM_004329.3(BMPR1A):c.*10C>A	BMPR1A	Single nucleotide variant (3 prime UTR variant +1 more)	Juvenile polyposis syndrome	GBenign
Select item 3378826	NM_004329.3(BMPR1A):c.318T>G (p.Ser106=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GBenign
Select item 3378807	NM_004329.3(BMPR1A):c.462G>C (p.Leu154=)	BMPR1A	Single nucleotide variant (synonymous variant +2 more)	Juvenile polyposis syndrome	GBenign
Select item 3378802	NM_004329.3(BMPR1A):c.*9C>T	BMPR1A	Single nucleotide variant (3 prime UTR variant +1 more)	Juvenile polyposis syndrome	GBenign
Select item 3378801	NM_004329.3(BMPR1A):c.102G>C (p.Gly34=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GBenign
Select item 3378784	NM_004329.3(BMPR1A):c.1503A>C (p.Ser501=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GBenign
Select item 3378780	NM_004329.3(BMPR1A):c.334-12C>T	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 3378777	NM_004329.3(BMPR1A):c.531-20G>T	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 3378771	NM_004329.3(BMPR1A):c.663A>T (p.Gly221=)	BMPR1A	Single nucleotide variant (synonymous variant +2 more)	Juvenile polyposis syndrome	GBenign
Select item 3378770	NM_004329.3(BMPR1A):c.869-11C>T	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 3378767	NM_004329.3(BMPR1A):c.711C>T (p.Val237=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GBenign
Select item 3378761	NM_004329.3(BMPR1A):c.1170C>T (p.Asp390=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GBenign
Select item 3378752	NM_004329.3(BMPR1A):c.1173A>G (p.Thr391=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GBenign
Select item 3378750	NM_004329.3(BMPR1A):c.334-15T>C	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 3378741	NM_004329.3(BMPR1A):c.1363T>C (p.Leu455=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GBenign
Select item 3378726	NM_004329.3(BMPR1A):c.1104C>A (p.Ile368=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GBenign
Select item 3378719	NM_004329.3(BMPR1A):c.1392T>C (p.Asp464=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GBenign
Select item 3378680	NM_004329.3(BMPR1A):c.651T>C (p.Gly217=)	BMPR1A	Single nucleotide variant (synonymous variant +2 more)	Juvenile polyposis syndrome	GBenign
Select item 3378679	NM_004329.3(BMPR1A):c.1342+7G>T	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 3378672	NM_004329.3(BMPR1A):c.336T>C (p.Asp112=)	BMPR1A	Single nucleotide variant (synonymous variant +2 more)	Juvenile polyposis syndrome	GBenign
Select item 3378661	NM_004329.3(BMPR1A):c.675+7T>C	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 3378658	NM_004329.3(BMPR1A):c.960C>T (p.Phe320=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GBenign
Select item 3378647	NM_004329.3(BMPR1A):c.963G>A (p.Leu321=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GBenign
Select item 3378634	NM_004329.3(BMPR1A):c.531-19T>C	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 3378630	NM_004329.3(BMPR1A):c.431-20T>C	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 3378620	NM_004329.3(BMPR1A):c.712C>A (p.Arg238=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GBenign
Select item 3378611	NM_004329.3(BMPR1A):c.453T>C (p.Ile151=)	BMPR1A	Single nucleotide variant (synonymous variant +2 more)	Juvenile polyposis syndrome	GBenign
Select item 3378608	NM_004329.3(BMPR1A):c.1474-17A>G	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 3378605	NM_004329.3(BMPR1A):c.165C>T (p.Thr55=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GBenign
Select item 3378604	NM_004329.3(BMPR1A):c.231-17del	BMPR1A	Deletion (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 3378603	NM_004329.3(BMPR1A):c.231-17G>T	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 3378592	NM_004329.3(BMPR1A):c.120C>T (p.Asp40=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GBenign
Select item 3378575	NM_004329.3(BMPR1A):c.1098A>G (p.Lys366=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GBenign
Select item 3378571	NM_004329.3(BMPR1A):c.255C>A (p.Ile85=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GBenign
Select item 3378558	NM_004329.3(BMPR1A):c.333+8A>G	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 3378553	NM_004329.3(BMPR1A):c.1167-17G>A	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 3378548	NM_004329.3(BMPR1A):c.192A>C (p.Ser64=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GBenign
Select item 3378545	NM_004329.3(BMPR1A):c.*8A>G	BMPR1A	Single nucleotide variant (3 prime UTR variant +1 more)	Juvenile polyposis syndrome	GBenign
Select item 3378540	NM_004329.3(BMPR1A):c.1343-12A>C	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 3378539	NM_004329.3(BMPR1A):c.*8A>C	BMPR1A	Single nucleotide variant (3 prime UTR variant +1 more)	Juvenile polyposis syndrome	GBenign
Select item 3378527	NM_004329.3(BMPR1A):c.360G>A (p.Arg120=)	BMPR1A	Single nucleotide variant (synonymous variant +2 more)	Juvenile polyposis syndrome	GBenign
Select item 3378523	NM_004329.3(BMPR1A):c.618A>T (p.Leu206=)	BMPR1A	Single nucleotide variant (synonymous variant +2 more)	Juvenile polyposis syndrome	GBenign
Select item 3378520	NM_004329.3(BMPR1A):c.54T>C (p.Ile18=)	BMPR1A	Single nucleotide variant (synonymous variant +3 more)	Juvenile polyposis syndrome	GBenign
Select item 3378518	NM_004329.3(BMPR1A):c.1218C>A (p.Arg406=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GBenign
Select item 3378516	NM_004329.3(BMPR1A):c.531-9T>C	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 3378509	NM_004329.3(BMPR1A):c.67+5A>G	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 3378506	NM_004329.3(BMPR1A):c.334-18T>C	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 3378505	NM_004329.3(BMPR1A):c.1473+8G>T	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 3378502	NM_004329.3(BMPR1A):c.531-8T>C	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 3378501	NM_004329.3(BMPR1A):c.1166+9T>G	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 3378500	NM_004329.3(BMPR1A):c.900T>G (p.Gly300=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GBenign
Select item 3378497	NM_004329.3(BMPR1A):c.1011A>G (p.Ser337=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GBenign
Select item 3378495	NM_004329.3(BMPR1A):c.1005T>G (p.Ala335=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GBenign
Select item 3378494	NM_004329.3(BMPR1A):c.1284T>G (p.Ala428=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GBenign

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