ClinVar for PubMed (Select 12417513) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2866138	NM_004329.3(BMPR1A):c.231-2A>G	BMPR1A	Single nucleotide variant (splice acceptor variant)	Juvenile polyposis syndrome	GLikely pathogenic
Select item 2834938	NM_004329.3(BMPR1A):c.15C>G (p.Tyr5Ter)	BMPR1A (Y5*)	Single nucleotide variant (nonsense +3 more)	Juvenile polyposis syndrome	GPathogenic
Select item 2826693	NM_004329.3(BMPR1A):c.510del (p.Ser171fs)	BMPR1A (S171fs +1 more)	Deletion (frameshift variant +2 more)	Juvenile polyposis syndrome	GPathogenic
Select item 2812455	NM_004329.3(BMPR1A):c.483dup (p.Val162fs)	BMPR1A (V162fs +1 more)	Duplication (frameshift variant +2 more)	Juvenile polyposis syndrome	GPathogenic
Select item 2770421	NM_004329.3(BMPR1A):c.1019del (p.Cys340fs)	BMPR1A (C226fs +5 more)	Deletion (frameshift variant +1 more)	Juvenile polyposis syndrome	GPathogenic
Select item 2765370	NM_004329.3(BMPR1A):c.842_843del (p.Val281fs)	BMPR1A (V253fs +5 more)	Microsatellite (frameshift variant +1 more)	Juvenile polyposis syndrome	GPathogenic
Select item 2756906	NM_004329.3(BMPR1A):c.675+1G>T	BMPR1A	Single nucleotide variant (splice donor variant +1 more)	Juvenile polyposis syndrome	GLikely pathogenic
Select item 2752694	NM_004329.3(BMPR1A):c.1132_1133insCCTGGAG (p.Ile378fs)	BMPR1A (I264fs +5 more)	Insertion (frameshift variant +1 more)	Juvenile polyposis syndrome	GPathogenic
Select item 2752693	NM_004329.3(BMPR1A):c.1131del (p.Cys376_Cys377insTer)	BMPR1A	Deletion (nonsense +1 more)	Juvenile polyposis syndrome	GPathogenic
Select item 2746483	NM_004329.3(BMPR1A):c.121C>T (p.Gln41Ter)	BMPR1A (Q41* +1 more)	Single nucleotide variant (nonsense +1 more)	Juvenile polyposis syndrome	GPathogenic
Select item 2565024	NM_004329.3(BMPR1A):c.889A>T (p.Lys297Ter)	BMPR1A (K183* +5 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 2425066	NC_000010.10:g.(?_88676881)_(88679236_?)del	BMPR1A	Deletion	Juvenile polyposis syndrome	GPathogenic
Select item 2136906	NM_004329.3(BMPR1A):c.431-1G>A	BMPR1A	Single nucleotide variant (splice acceptor variant +1 more)	Juvenile polyposis syndrome	GLikely pathogenic
Select item 2109841	NM_004329.3(BMPR1A):c.746G>A (p.Trp249Ter)	BMPR1A (W274* +5 more)	Single nucleotide variant (nonsense)	Juvenile polyposis syndrome	GPathogenic
Select item 2091722	NM_004329.3(BMPR1A):c.364dup (p.Ile122fs)	BMPR1A (I122fs)	Duplication (frameshift variant)	Juvenile polyposis syndrome	GPathogenic
Select item 2087232	NM_004329.3(BMPR1A):c.1171dup (p.Thr391fs)	BMPR1A (T391fs)	Duplication (frameshift variant)	Juvenile polyposis syndrome	GPathogenic
Select item 2035724	NM_004329.3(BMPR1A):c.349dup (p.Gln117fs)	BMPR1A (Q117fs)	Duplication (frameshift variant)	Juvenile polyposis syndrome	GPathogenic
Select item 2028430	NM_004329.3(BMPR1A):c.192_193del (p.Gly65fs)	BMPR1A (G65fs)	Deletion (frameshift variant)	Juvenile polyposis syndrome	GPathogenic
Select item 2006853	NM_004329.3(BMPR1A):c.338del (p.Ser113fs)	BMPR1A (S113fs)	Deletion (frameshift variant)	Juvenile polyposis syndrome	GPathogenic
Select item 1997806	NM_004329.3(BMPR1A):c.530+1G>T	BMPR1A	Single nucleotide variant (splice donor variant +1 more)	Juvenile polyposis syndrome	GLikely pathogenic
Select item 1978044	NM_004329.3(BMPR1A):c.111delinsCCATGGCACTGGGAT (p.Asp38fs)	BMPR1A (D38fs)	Indel (frameshift variant)	Juvenile polyposis syndrome	GPathogenic
Select item 1770673	NM_004329.3(BMPR1A):c.1354G>T (p.Glu452Ter)	BMPR1A (E468* +5 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 1769934	NM_004329.3(BMPR1A):c.1322dup (p.Arg442fs)	BMPR1A (R442fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 1767721	NM_004329.3(BMPR1A):c.128_137del (p.Lys43fs)	BMPR1A (K43fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 1516559	NM_004329.3(BMPR1A):c.1343-2A>G	BMPR1A	Single nucleotide variant (splice acceptor variant)	Juvenile polyposis syndrome	GLikely pathogenic
Select item 1500697	NM_004329.3(BMPR1A):c.333+2T>A	BMPR1A	Single nucleotide variant (splice donor variant)	Juvenile polyposis syndrome	GLikely pathogenic
Select item 1459905	NC_000010.10:g.(?_88659541)_(88659893_?)del	BMPR1A	Deletion	Juvenile polyposis syndrome	GPathogenic
Select item 1459799	NM_004329.3(BMPR1A):c.497del (p.Ala166fs)	BMPR1A (A166fs)	Deletion (frameshift variant)	Juvenile polyposis syndrome	GPathogenic
Select item 1458755	NM_004329.3(BMPR1A):c.829del (p.Ile277fs)	BMPR1A (I277fs)	Deletion (frameshift variant)	Juvenile polyposis syndrome	GPathogenic
Select item 1456917	NM_004329.3(BMPR1A):c.924del (p.Thr309fs)	BMPR1A (T309fs)	Deletion (frameshift variant)	Juvenile polyposis syndrome	GPathogenic
Select item 1455939	NC_000010.10:g.(?_88678919)_(88679236_?)del	BMPR1A	Deletion	Juvenile polyposis syndrome	GPathogenic
Select item 1453421	NC_000010.10:g.(?_88441193)_(88722432_?)del	BMPR1A, LDB3 +2 more	Deletion	Juvenile polyposis syndrome	GPathogenic
Select item 1452995	NM_004329.3(BMPR1A):c.1193dup (p.Leu398fs)	BMPR1A (L398fs)	Duplication (frameshift variant)	Juvenile polyposis syndrome	GPathogenic
Select item 1452517	NM_004329.3(BMPR1A):c.1064del (p.Lys355fs)	BMPR1A (K355fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 1446949	NM_004329.3(BMPR1A):c.97dup (p.Thr33fs)	BMPR1A (T33fs)	Duplication (frameshift variant)	Juvenile polyposis syndrome	GPathogenic
Select item 1437360	NM_004329.3(BMPR1A):c.1022del (p.Gly341fs)	BMPR1A (G341fs)	Deletion (frameshift variant)	Juvenile polyposis syndrome	GPathogenic
Select item 1435228	NM_004329.3(BMPR1A):c.1372dup (p.Tyr458fs)	BMPR1A (Y458fs)	Duplication (frameshift variant)	Juvenile polyposis syndrome	GPathogenic
Select item 1416153	NM_004329.3(BMPR1A):c.357_360del (p.Arg120fs)	BMPR1A (R120fs)	Deletion (frameshift variant)	Juvenile polyposis syndrome	GPathogenic
Select item 1393823	NM_004329.3(BMPR1A):c.1101_1102dup (p.Ile368fs)	BMPR1A (I368fs)	Duplication (frameshift variant)	Juvenile polyposis syndrome	GPathogenic
Select item 1375333	NM_004329.3(BMPR1A):c.1255A>T (p.Lys419Ter)	BMPR1A (K419*)	Single nucleotide variant (nonsense)	Juvenile polyposis syndrome +1 more	GPathogenic
Select item 1076985	NC_000010.10:g.(?_88598623)_(88659889_?)del	BMPR1A	Deletion	Juvenile polyposis syndrome	GPathogenic
Select item 1076984	NC_000010.10:g.(?_88598623)_(88635852_?)del	BMPR1A	Deletion	Juvenile polyposis syndrome	GPathogenic
Select item 1075769	NM_004329.3(BMPR1A):c.127_137del (p.Lys43fs)	BMPR1A (K43fs)	Deletion (frameshift variant)	Juvenile polyposis syndrome +1 more	GPathogenic
Select item 1075317	NM_004329.3(BMPR1A):c.813del (p.Trp271fs)	BMPR1A (W271fs)	Deletion (frameshift variant)	Juvenile polyposis syndrome	GPathogenic
Select item 1075137	NM_004329.3(BMPR1A):c.1151dup (p.Val385fs)	BMPR1A (V385fs)	Duplication (frameshift variant)	Juvenile polyposis syndrome	GPathogenic
Select item 1073369	NM_004329.3(BMPR1A):c.394C>T (p.Gln132Ter)	BMPR1A (Q132*)	Single nucleotide variant (nonsense)	Juvenile polyposis syndrome +1 more	GPathogenic
Select item 1072349	NM_004329.3(BMPR1A):c.1119dup (p.Gly374fs)	BMPR1A (G374fs)	Duplication (frameshift variant)	Juvenile polyposis syndrome	GPathogenic
Select item 1071410	NM_004329.3(BMPR1A):c.156_165del (p.Glu53fs)	BMPR1A (E53fs)	Deletion (frameshift variant)	Juvenile polyposis syndrome	GPathogenic
Select item 1068880	NC_000010.10:g.(?_88669791)_88681457del	BMPR1A	Deletion	Juvenile polyposis syndrome	GPathogenic
Select item 1068878	NC_000010.10:g.(?_88651874)_(88651996_?)del	BMPR1A	Deletion	Juvenile polyposis syndrome	GPathogenic
Select item 1066654	NM_004329.3(BMPR1A):c.1166+1G>A	BMPR1A	Single nucleotide variant (splice donor variant)	Juvenile polyposis syndrome	GLikely pathogenic
Select item 993133	NM_004329.3(BMPR1A):c.455del (p.Arg152fs)	BMPR1A (R152fs)	Deletion (frameshift variant)	Juvenile polyposis syndrome +1 more	GPathogenic
Select item 962535	NM_004329.3(BMPR1A):c.650del (p.Gly217fs)	BMPR1A (G217fs)	Deletion (frameshift variant)	Juvenile polyposis syndrome	GPathogenic
Select item 951998	NM_004329.3(BMPR1A):c.897_1029del (p.Gly300fs)	BMPR1A (G300fs)	Deletion (frameshift variant)	Juvenile polyposis syndrome	GPathogenic
Select item 950069	NM_004329.3(BMPR1A):c.1167-2A>G	BMPR1A	Single nucleotide variant (splice acceptor variant)	Juvenile polyposis syndrome	GPathogenic
Select item 944516	NM_004329.3(BMPR1A):c.954dup (p.Asp319Ter)	BMPR1A (D319*)	Duplication (nonsense)	Juvenile polyposis syndrome	GPathogenic
Select item 935800	NM_004329.3(BMPR1A):c.230+1G>A	BMPR1A	Single nucleotide variant (splice donor variant)	Juvenile polyposis syndrome	GLikely pathogenic
Select item 859429	NM_004329.3(BMPR1A):c.1100del (p.Asn367fs)	BMPR1A (N367fs)	Deletion (frameshift variant)	Juvenile polyposis syndrome	GPathogenic
Select item 854188	NM_004329.3(BMPR1A):c.1152del (p.Val385fs)	BMPR1A (V385fs)	Deletion (frameshift variant)	Juvenile polyposis syndrome	GPathogenic
Select item 852393	NM_004329.3(BMPR1A):c.184_187dup (p.Cys63fs)	BMPR1A (C63fs)	Duplication (frameshift variant)	Juvenile polyposis syndrome	GPathogenic
Select item 840888	NM_004329.3(BMPR1A):c.1131_1153dup (p.Val385fs)	BMPR1A (V385fs)	Duplication (frameshift variant)	Juvenile polyposis syndrome	GPathogenic
Select item 839418	NM_004329.3(BMPR1A):c.834C>G (p.Tyr278Ter)	BMPR1A (Y278*)	Single nucleotide variant (nonsense)	Juvenile polyposis syndrome	GPathogenic
Select item 835681	NM_004329.3(BMPR1A):c.430+1G>A	BMPR1A	Single nucleotide variant (splice donor variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 832863	NC_000010.11:g.(?_86875868)_(86876095_?)del	BMPR1A	Deletion	Juvenile polyposis syndrome +1 more	GPathogenic
Select item 832499	NC_000010.11:g.(?_86755016)_(86923719_?)del	BMPR1A	Deletion	Generalized juvenile polyposis/juvenile polyposis coli +1 more	GPathogenic
Select item 826609	NM_004329.3(BMPR1A):c.676-1G>C	BMPR1A	Single nucleotide variant (splice acceptor variant +1 more)	Juvenile polyposis syndrome +1 more	GLikely pathogenic
Select item 825638	NM_004329.3(BMPR1A):c.531-1G>T	BMPR1A	Single nucleotide variant (splice acceptor variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely pathogenic
Select item 822968	NM_004329.3(BMPR1A):c.905G>A (p.Trp302Ter)	BMPR1A (W302*)	Single nucleotide variant (nonsense)	Juvenile polyposis syndrome +1 more	GPathogenic
Select item 802600	NM_004329.3(BMPR1A):c.583C>T (p.Gln195Ter)	BMPR1A (Q195*)	Single nucleotide variant (nonsense)	Generalized juvenile polyposis/juvenile polyposis coli +1 more	GPathogenic
Select item 661530	NM_004329.3(BMPR1A):c.244del (p.Cys82fs)	BMPR1A (C82fs)	Deletion (frameshift variant)	Juvenile polyposis syndrome	GPathogenic
Select item 657706	NM_004329.3(BMPR1A):c.1342+2T>G	BMPR1A	Single nucleotide variant (splice donor variant)	Juvenile polyposis syndrome	GLikely pathogenic
Select item 649955	NM_004329.3(BMPR1A):c.868+1G>A	BMPR1A	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely pathogenic
Select item 646709	NM_004329.3(BMPR1A):c.1267del (p.Gln423fs)	BMPR1A (Q423fs)	Deletion (frameshift variant)	Juvenile polyposis syndrome	GPathogenic
Select item 642114	NM_004329.3(BMPR1A):c.813G>A (p.Trp271Ter)	BMPR1A (W271*)	Single nucleotide variant (nonsense)	Juvenile polyposis syndrome	GPathogenic
Select item 617784	NM_004329.3(BMPR1A):c.176T>A (p.Leu59Ter)	BMPR1A (L59*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 584294	NC_000010.11:g.(?_86912230)_(86917336_?)del	BMPR1A	Deletion	Juvenile polyposis syndrome +1 more	GPathogenic
Select item 581321	NM_004329.3(BMPR1A):c.133_134del (p.Glu45fs)	BMPR1A (E45fs)	Deletion (frameshift variant)	Juvenile polyposis syndrome +1 more	GPathogenic
Select item 578684	NM_004329.3(BMPR1A):c.1374C>A (p.Tyr458Ter)	BMPR1A (Y458*)	Single nucleotide variant (nonsense)	Juvenile polyposis syndrome +1 more	GPathogenic
Select item 577341	NM_004329.3(BMPR1A):c.869-2_871del	BMPR1A	Deletion (splice acceptor variant)	Juvenile polyposis syndrome	GLikely pathogenic
Select item 572096	NM_004329.3(BMPR1A):c.674del (p.Leu225fs)	BMPR1A (L225fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 571137	NM_004329.3(BMPR1A):c.566dup (p.Tyr189Ter)	BMPR1A (Y189*)	Duplication (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 569831	NM_004329.3(BMPR1A):c.1314G>A (p.Trp438Ter)	BMPR1A (W438*)	Single nucleotide variant (nonsense)	Juvenile polyposis syndrome	GPathogenic
Select item 567998	NM_004329.3(BMPR1A):c.231-1G>C	BMPR1A	Single nucleotide variant (splice acceptor variant)	Juvenile polyposis syndrome	GLikely pathogenic
Select item 567654	NM_004329.3(BMPR1A):c.139G>T (p.Gly47Ter)	BMPR1A (G47*)	Single nucleotide variant (nonsense)	Juvenile polyposis syndrome	GPathogenic
Select item 566699	NM_004329.3(BMPR1A):c.847dup (p.Met283fs)	BMPR1A (M283fs)	Duplication (frameshift variant)	Juvenile polyposis syndrome	GPathogenic
Select item 545791	NM_004329.3(BMPR1A):c.40dup (p.Tyr14fs)	BMPR1A (Y14fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 529921	NM_004329.3(BMPR1A):c.731dup (p.Tyr245fs)	BMPR1A (Y245fs)	Duplication (frameshift variant)	Juvenile polyposis syndrome	GPathogenic
Select item 529920	NM_004329.3(BMPR1A):c.864dup (p.Leu289fs)	BMPR1A (L289fs)	Duplication (frameshift variant)	Juvenile polyposis syndrome	GPathogenic
Select item 529908	NM_004329.3(BMPR1A):c.44_47del (p.Leu15fs)	BMPR1A (L15fs)	Deletion (frameshift variant)	Generalized juvenile polyposis/juvenile polyposis coli +2 more	GPathogenic
Select item 529904	NM_004329.3(BMPR1A):c.419del (p.Pro140fs)	BMPR1A (P140fs)	Deletion (frameshift variant)	Juvenile polyposis syndrome	GPathogenic
Select item 529903	NM_004329.3(BMPR1A):c.910C>T (p.Gln304Ter)	BMPR1A (Q304*)	Single nucleotide variant (nonsense)	Juvenile polyposis syndrome	GPathogenic
Select item 490989	NM_004329.3(BMPR1A):c.275del (p.Gly92fs)	BMPR1A (G92fs)	Deletion (frameshift variant)	Juvenile polyposis syndrome +1 more	GPathogenic
Select item 486804	NM_004329.3(BMPR1A):c.15C>A (p.Tyr5Ter)	BMPR1A (Y5*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 486799	NM_004329.3(BMPR1A):c.1010C>A (p.Ser337Ter)	BMPR1A (S337*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 486794	NM_004329.3(BMPR1A):c.1360C>T (p.Gln454Ter)	BMPR1A (Q454*)	Single nucleotide variant (nonsense)	Juvenile polyposis syndrome +1 more	GPathogenic
Select item 482869	NM_004329.3(BMPR1A):c.68-1G>A	BMPR1A	Single nucleotide variant (splice acceptor variant +1 more)	Juvenile polyposis syndrome +1 more	GPathogenic/Likely pathogenic
Select item 482862	NM_004329.3(BMPR1A):c.1061del (p.Gly354fs)	BMPR1A (G354fs)	Deletion (frameshift variant)	Juvenile polyposis syndrome +1 more	GPathogenic
Select item 460517	NM_004329.3(BMPR1A):c.957dup (p.Phe320fs)	BMPR1A (F320fs)	Duplication (frameshift variant)	Juvenile polyposis syndrome	GPathogenic
Select item 460512	NM_004329.3(BMPR1A):c.834C>A (p.Tyr278Ter)	BMPR1A (Y278*)	Single nucleotide variant (nonsense)	Juvenile polyposis syndrome	GPathogenic
Select item 460506	NM_004329.3(BMPR1A):c.578dup (p.Leu193fs)	BMPR1A (L193fs)	Duplication (frameshift variant)	Juvenile polyposis syndrome	GPathogenic

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