C0345893[trait identifier] AND "All of Us Research Program, National I - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3073631	NM_004329.3(BMPR1A):c.-15del	BMPR1A	Deletion (5 prime UTR variant +2 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 506301	NM_004329.3(BMPR1A):c.-14A>G	BMPR1A	Single nucleotide variant (5 prime UTR variant)	Juvenile polyposis syndrome +2 more	GConflicting classifications of pathogenicity
Select item 511690	NM_004329.3(BMPR1A):c.-6T>C	BMPR1A	Single nucleotide variant (5 prime UTR variant)	Juvenile polyposis syndrome +3 more	GConflicting classifications of pathogenicity
Select item 41782	NM_004329.3(BMPR1A):c.4C>A (p.Pro2Thr)	BMPR1A (P2T)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 182062	NM_004329.3(BMPR1A):c.5C>T (p.Pro2Leu)	BMPR1A (P2L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 215828	NM_004329.3(BMPR1A):c.12A>G (p.Leu4=)	BMPR1A	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 216580	NM_004329.3(BMPR1A):c.22A>G (p.Ile8Val)	BMPR1A (I8V)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +2 more	GConflicting classifications of pathogenicity
Select item 383960	NM_004329.3(BMPR1A):c.27A>G (p.Arg9=)	BMPR1A	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 824353	NM_004329.3(BMPR1A):c.38C>G (p.Ala13Gly)	BMPR1A (A13G)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +1 more	GUncertain significance
Select item 3075410	NM_004329.3(BMPR1A):c.45G>T (p.Leu15Phe)	BMPR1A (L15F)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 950370	NM_004329.3(BMPR1A):c.47T>A (p.Phe16Tyr)	BMPR1A (F16Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 231113	NM_004329.3(BMPR1A):c.49A>C (p.Ile17Leu)	BMPR1A (I17L)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +4 more	GConflicting classifications of pathogenicity
Select item 460507	NM_004329.3(BMPR1A):c.58C>T (p.Arg20Cys)	BMPR1A (R20C)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +1 more	GUncertain significance
Select item 220321	NM_004329.3(BMPR1A):c.59G>A (p.Arg20His)	BMPR1A (R20H)	Single nucleotide variant (missense variant)	Generalized juvenile polyposis/juvenile polyposis coli +3 more	GConflicting classifications of pathogenicity
Select item 3074109	NM_004329.3(BMPR1A):c.67+2T>C	BMPR1A	Single nucleotide variant (splice donor variant +1 more)	Juvenile polyposis syndrome	GLikely pathogenic
Select item 491011	NM_004329.3(BMPR1A):c.68-12A>G	BMPR1A	Single nucleotide variant (intron variant)	Generalized juvenile polyposis/juvenile polyposis coli +3 more	GBenign/Likely benign
Select item 411645	NM_004329.3(BMPR1A):c.74A>G (p.Asn25Ser)	BMPR1A (N25S)	Single nucleotide variant (missense variant)	Polyposis syndrome, hereditary mixed, 2 +3 more	GConflicting classifications of pathogenicity
Select item 216584	NM_004329.3(BMPR1A):c.83G>A (p.Ser28Asn)	BMPR1A (S28N)	Single nucleotide variant (missense variant)	Generalized juvenile polyposis/juvenile polyposis coli +4 more	GConflicting classifications of pathogenicity
Select item 411643	NM_004329.3(BMPR1A):c.94G>C (p.Gly32Arg)	BMPR1A (G32R)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1016885	NM_004329.3(BMPR1A):c.95G>A (p.Gly32Asp)	BMPR1A (G32D)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome	GUncertain significance
Select item 460519	NM_004329.3(BMPR1A):c.97A>G (p.Thr33Ala)	BMPR1A (T33A)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1513917	NM_004329.3(BMPR1A):c.104T>A (p.Met35Lys)	BMPR1A (M35K)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome	GUncertain significance
Select item 482856	NM_004329.3(BMPR1A):c.114C>G (p.Asp38Glu)	BMPR1A (D38E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 460476	NM_004329.3(BMPR1A):c.117C>T (p.Ser39=)	BMPR1A	Single nucleotide variant (synonymous variant)	Juvenile polyposis syndrome +3 more	GLikely benign
Select item 239853	NM_004329.3(BMPR1A):c.117C>G (p.Ser39=)	BMPR1A	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 141179	NM_004329.3(BMPR1A):c.118G>A (p.Asp40Asn)	BMPR1A (D40N)	Single nucleotide variant (missense variant)	Polyposis syndrome, hereditary mixed, 2 +3 more	GConflicting classifications of pathogenicity
Select item 529912	NM_004329.3(BMPR1A):c.119A>G (p.Asp40Gly)	BMPR1A (D40G)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +1 more	GUncertain significance
Select item 186702	NM_004329.3(BMPR1A):c.124A>G (p.Lys42Glu)	BMPR1A (K42E)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +3 more	GUncertain significance
Select item 482871	NM_004329.3(BMPR1A):c.132A>C (p.Ser44=)	BMPR1A	Single nucleotide variant (synonymous variant)	Juvenile polyposis syndrome +1 more	GLikely benign
Select item 419865	NM_004329.3(BMPR1A):c.140G>T (p.Gly47Val)	BMPR1A (G47V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 186884	NM_004329.3(BMPR1A):c.140G>A (p.Gly47Glu)	BMPR1A (G47E)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +4 more	GConflicting classifications of pathogenicity
Select item 482855	NM_004329.3(BMPR1A):c.148T>C (p.Leu50=)	BMPR1A	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 486820	NM_004329.3(BMPR1A):c.151G>A (p.Ala51Thr)	BMPR1A (A51T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 819566	NM_004329.3(BMPR1A):c.156A>G (p.Pro52=)	BMPR1A	Single nucleotide variant (synonymous variant)	Juvenile polyposis syndrome +1 more	GLikely benign
Select item 371995	NM_004329.3(BMPR1A):c.170C>G (p.Pro57Arg)	BMPR1A (P57R)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +3 more	GUncertain significance
Select item 482845	NM_004329.3(BMPR1A):c.183C>T (p.Cys61=)	BMPR1A	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 416805	NM_004329.3(BMPR1A):c.195G>A (p.Gly65=)	BMPR1A	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 416800	NM_004329.3(BMPR1A):c.195G>C (p.Gly65=)	BMPR1A	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 136050	NM_004329.3(BMPR1A):c.198C>T (p.His66=)	BMPR1A	Single nucleotide variant (synonymous variant)	Generalized juvenile polyposis/juvenile polyposis coli +3 more	GBenign/Likely benign
Select item 2574374	NM_004329.3(BMPR1A):c.205G>C (p.Asp69His)	BMPR1A (D41H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 422358	NM_004329.3(BMPR1A):c.214A>G (p.Ile72Val)	BMPR1A (I72V)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +2 more	GConflicting classifications of pathogenicity
Select item 239859	NM_004329.3(BMPR1A):c.229A>G (p.Ile77Val)	BMPR1A (I77V)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +1 more	GUncertain significance
Select item 1608678	NM_004329.3(BMPR1A):c.231-11T>A	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 1097654	NM_004329.3(BMPR1A):c.231-9C>A	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GConflicting classifications of pathogenicity
Select item 460493	NM_004329.3(BMPR1A):c.241C>T (p.His81Tyr)	BMPR1A (H81Y)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +3 more	GUncertain significance
Select item 239860	NM_004329.3(BMPR1A):c.271C>A (p.Gln91Lys)	BMPR1A (Q91K)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +1 more	GUncertain significance
Select item 416807	NM_004329.3(BMPR1A):c.294A>G (p.Ser98=)	BMPR1A	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 490990	NM_004329.3(BMPR1A):c.297G>T (p.Gly99=)	BMPR1A	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 629244	NM_004329.3(BMPR1A):c.309T>C (p.Tyr103=)	BMPR1A	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 3074384	NM_004329.3(BMPR1A):c.319G>A (p.Asp107Asn)	BMPR1A (D107N +1 more)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 3072325	NM_004329.3(BMPR1A):c.321T>C (p.Asp107=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2709218	NM_004329.3(BMPR1A):c.334-13A>T	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 482865	NM_004329.3(BMPR1A):c.350A>G (p.Gln117Arg)	BMPR1A (Q117R)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +2 more	GUncertain significance
Select item 142379	NM_004329.3(BMPR1A):c.352C>G (p.Leu118Val)	BMPR1A (L118V)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +1 more	GUncertain significance
Select item 489693	NM_004329.3(BMPR1A):c.356G>A (p.Arg119His)	BMPR1A (R119H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 529962	NM_004329.3(BMPR1A):c.357C>G (p.Arg119=)	BMPR1A	Single nucleotide variant (synonymous variant)	Juvenile polyposis syndrome +1 more	GLikely benign
Select item 411632	NM_004329.3(BMPR1A):c.359G>A (p.Arg120Gln)	BMPR1A (R120Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 490994	NM_004329.3(BMPR1A):c.377G>A (p.Arg126Gln)	BMPR1A (R126Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 186487	NM_004329.3(BMPR1A):c.383A>G (p.Asn128Ser)	BMPR1A (N128S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 233491	NM_004329.3(BMPR1A):c.405dup (p.Pro136fs)	BMPR1A (P136fs)	Duplication (frameshift variant)	Juvenile polyposis syndrome +2 more	GPathogenic
Select item 824590	NM_004329.3(BMPR1A):c.409A>T (p.Thr137Ser)	BMPR1A (T137S)	Single nucleotide variant (missense variant)	Polyposis syndrome, hereditary mixed, 2 +3 more	GUncertain significance
Select item 1034893	NM_004329.3(BMPR1A):c.410C>T (p.Thr137Ile)	BMPR1A (T137I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 231706	NM_004329.3(BMPR1A):c.415C>T (p.Pro139Ser)	BMPR1A (P139S)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +2 more	GConflicting classifications of pathogenicity
Select item 438903	NM_004329.3(BMPR1A):c.418C>T (p.Pro140Ser)	BMPR1A (P140S)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +4 more	GUncertain significance
Select item 489695	NM_004329.3(BMPR1A):c.419C>T (p.Pro140Leu)	BMPR1A (P140L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 569170	NM_004329.3(BMPR1A):c.424G>C (p.Val142Leu)	BMPR1A (V142L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2856110	NM_004329.3(BMPR1A):c.430+4G>A	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GUncertain significance
Select item 142248	NM_004329.3(BMPR1A):c.431-5G>A	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome +1 more	GLikely benign
Select item 1739688	NM_004329.3(BMPR1A):c.431G>A (p.Gly144Asp)	BMPR1A (G144D +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 133718	NM_004329.3(BMPR1A):c.437T>C (p.Phe146Ser)	BMPR1A (F146S)	Single nucleotide variant (missense variant)	Polyposis syndrome, hereditary mixed, 2 +3 more	GConflicting classifications of pathogenicity
Select item 491003	NM_004329.3(BMPR1A):c.452T>C (p.Ile151Thr)	BMPR1A (I151T)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +1 more	GUncertain significance
Select item 482878	NM_004329.3(BMPR1A):c.455G>A (p.Arg152Gln)	BMPR1A (R152Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 187206	NM_004329.3(BMPR1A):c.499A>T (p.Met167Leu)	BMPR1A (M167L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 850582	NM_004329.3(BMPR1A):c.505A>C (p.Ile169Leu)	BMPR1A (I169L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 239862	NM_004329.3(BMPR1A):c.505A>T (p.Ile169Phe)	BMPR1A (I169F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 517196	NM_004329.3(BMPR1A):c.506_507insTCC (p.Ile169_Phe170insPro)	BMPR1A	Insertion (inframe_insertion)	Juvenile polyposis syndrome +2 more	GUncertain significance
Select item 847294	NM_004329.3(BMPR1A):c.512C>G (p.Ser171Cys)	BMPR1A (S171C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 460501	NM_004329.3(BMPR1A):c.516C>T (p.Ser172=)	BMPR1A	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 216583	NM_004329.3(BMPR1A):c.519C>G (p.Cys173Trp)	BMPR1A (C173W)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +2 more	GUncertain significance
Select item 187666	NM_004329.3(BMPR1A):c.524G>A (p.Cys175Tyr)	BMPR1A (C175Y)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +3 more	GConflicting classifications of pathogenicity
Select item 628513	NM_004329.3(BMPR1A):c.526T>C (p.Tyr176His)	BMPR1A (Y176H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1582787	NM_004329.3(BMPR1A):c.530+7_530+9del	BMPR1A	Microsatellite (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 460503	NM_004329.3(BMPR1A):c.558A>G (p.Arg186=)	BMPR1A	Single nucleotide variant (synonymous variant)	Juvenile polyposis syndrome +1 more	GLikely benign
Select item 232773	NM_004329.3(BMPR1A):c.560G>A (p.Arg187His)	BMPR1A (R187H)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +4 more	GConflicting classifications of pathogenicity
Select item 246466	NM_004329.3(BMPR1A):c.562C>T (p.Arg188Cys)	BMPR1A (R188C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 1042223	NM_004329.3(BMPR1A):c.563G>T (p.Arg188Leu)	BMPR1A (R188L)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 219715	NM_004329.3(BMPR1A):c.563G>A (p.Arg188His)	BMPR1A (R188H)	Single nucleotide variant (missense variant)	Polyposis syndrome, hereditary mixed, 2 +3 more	GConflicting classifications of pathogenicity
Select item 1749008	NM_004329.3(BMPR1A):c.567C>T (p.Tyr189=)	BMPR1A	Single nucleotide variant (synonymous variant +2 more)	Juvenile polyposis syndrome +1 more	GLikely benign
Select item 825895	NM_004329.3(BMPR1A):c.568A>G (p.Asn190Asp)	BMPR1A (N190D)	Single nucleotide variant (missense variant)	Polyposis syndrome, hereditary mixed, 2 +2 more	GConflicting classifications of pathogenicity
Select item 489698	NM_004329.3(BMPR1A):c.571C>T (p.Arg191Cys)	BMPR1A (R191C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 418763	NM_004329.3(BMPR1A):c.572G>A (p.Arg191His)	BMPR1A (R191H)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +3 more	GConflicting classifications of pathogenicity
Select item 411627	NM_004329.3(BMPR1A):c.587A>G (p.Asp196Gly)	BMPR1A (D196G)	Single nucleotide variant (missense variant)	Polyposis syndrome, hereditary mixed, 2 +4 more	GConflicting classifications of pathogenicity
Select item 826064	NM_004329.3(BMPR1A):c.593C>A (p.Ala198Glu)	BMPR1A (A198E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 142824	NM_004329.3(BMPR1A):c.608G>A (p.Gly203Glu)	BMPR1A (G203E)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +1 more	GUncertain significance
Select item 3070321	NM_004329.3(BMPR1A):c.611A>C (p.Glu204Ala)	BMPR1A (E176A +3 more)	Single nucleotide variant (missense variant +2 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 3075338	NM_004329.3(BMPR1A):c.623A>C (p.Asp208Ala)	BMPR1A (D180A +3 more)	Single nucleotide variant (missense variant +2 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 182066	NM_004329.3(BMPR1A):c.629T>C (p.Ile210Thr)	BMPR1A (I210T)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +2 more	GUncertain significance
Select item 229681	NM_004329.3(BMPR1A):c.634C>A (p.Gln212Lys)	BMPR1A (Q212K)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +3 more	GConflicting classifications of pathogenicity
Select item 3070164	NM_004329.3(BMPR1A):c.637T>G (p.Ser213Ala)	BMPR1A (S185A +3 more)	Single nucleotide variant (missense variant +2 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 491007	NM_004329.3(BMPR1A):c.640C>A (p.Gln214Lys)	BMPR1A (Q214K)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance

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