ClinVar for MedGen (Select 350500) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2680205	NM_004329.3(BMPR1A):c.79_83del (p.Asp27fs)	BMPR1A (D27fs)	Deletion (frameshift variant +2 more)	Polyposis syndrome, hereditary mixed, 2	GLikely pathogenic
Select item 2680204	NM_004329.3(BMPR1A):c.702del (p.Gln235fs)	BMPR1A (Q121fs +5 more)	Deletion (frameshift variant +1 more)	Polyposis syndrome, hereditary mixed, 2	GLikely pathogenic
Select item 2680203	NM_004329.3(BMPR1A):c.686C>G (p.Thr229Ser)	BMPR1A (T115S +5 more)	Single nucleotide variant (missense variant +1 more)	Polyposis syndrome, hereditary mixed, 2	GUncertain significance
Select item 2680202	NM_004329.3(BMPR1A):c.956A>T (p.Asp319Val)	BMPR1A (D205V +5 more)	Single nucleotide variant (missense variant +1 more)	Polyposis syndrome, hereditary mixed, 2	GUncertain significance
Select item 2680201	NM_004329.3(BMPR1A):c.707T>A (p.Met236Lys)	BMPR1A (M122K +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Polyposis syndrome, hereditary mixed, 2	GUncertain significance
Select item 2680200	NM_004329.3(BMPR1A):c.196C>T (p.His66Tyr)	BMPR1A (H38Y +1 more)	Single nucleotide variant (missense variant +1 more)	Polyposis syndrome, hereditary mixed, 2	GUncertain significance
Select item 2680199	NM_004329.3(BMPR1A):c.1473+6T>A	BMPR1A	Single nucleotide variant (intron variant)	Polyposis syndrome, hereditary mixed, 2	GUncertain significance
Select item 2680198	NM_004329.3(BMPR1A):c.778G>C (p.Val260Leu)	BMPR1A (V146L +5 more)	Single nucleotide variant (missense variant +1 more)	Polyposis syndrome, hereditary mixed, 2	GUncertain significance
Select item 2680197	NM_004329.3(BMPR1A):c.1444A>T (p.Ile482Phe)	BMPR1A (I368F +5 more)	Single nucleotide variant (missense variant +1 more)	Polyposis syndrome, hereditary mixed, 2	GUncertain significance
Select item 2680195	NM_004329.3(BMPR1A):c.803A>C (p.Glu268Ala)	BMPR1A (E154A +5 more)	Single nucleotide variant (missense variant +1 more)	Polyposis syndrome, hereditary mixed, 2	GUncertain significance
Select item 2680194	NM_004329.3(BMPR1A):c.736G>A (p.Gly246Arg)	BMPR1A (G218R +5 more)	Single nucleotide variant (missense variant +1 more)	Polyposis syndrome, hereditary mixed, 2	GUncertain significance
Select item 2583147	NM_004329.3(BMPR1A):c.974dup (p.Leu326fs)	BMPR1A (L212fs +5 more)	Duplication (frameshift variant +1 more)	Polyposis syndrome, hereditary mixed, 2	GLikely pathogenic
Select item 2429652	NM_004329.3(BMPR1A):c.964A>G (p.Lys322Glu)	BMPR1A (K208E +5 more)	Single nucleotide variant (missense variant)	Polyposis syndrome, hereditary mixed, 2 +1 more	GUncertain significance
Select item 2154231	NM_004329.3(BMPR1A):c.982A>G (p.Thr328Ala)	BMPR1A (T344A +5 more)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +1 more	GUncertain significance
Select item 1999160	NM_004329.3(BMPR1A):c.1480C>G (p.Arg494Gly)	BMPR1A (R492G +5 more)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +1 more	GUncertain significance
Select item 1793638	NM_004329.3(BMPR1A):c.25A>T (p.Arg9Ter)	BMPR1A (R9*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1772471	NM_004329.3(BMPR1A):c.142G>A (p.Val48Ile)	BMPR1A (V48I +1 more)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +3 more	GUncertain significance
Select item 1768501	NM_004329.3(BMPR1A):c.988G>C (p.Ala330Pro)	BMPR1A (A302P +5 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1761862	NM_004329.3(BMPR1A):c.806C>G (p.Ala269Gly)	BMPR1A (A241G +5 more)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +2 more	GUncertain significance
Select item 1738902	NM_004329.3(BMPR1A):c.420TGT[3] (p.Val142_Ile143insVal)	BMPR1A	Microsatellite (inframe_indel +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1507072	NM_004329.3(BMPR1A):c.649G>A (p.Gly217Ser)	BMPR1A (G217S)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +1 more	GUncertain significance
Select item 1075769	NM_004329.3(BMPR1A):c.127_137del (p.Lys43fs)	BMPR1A (K43fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 1017728	NM_004329.3(BMPR1A):c.1254C>G (p.Asn418Lys)	BMPR1A (N418K)	Single nucleotide variant (missense variant)	Polyposis syndrome, hereditary mixed, 2 +2 more	GUncertain significance
Select item 997670	NM_004329.3(BMPR1A):c.979G>A (p.Asp327Asn)	BMPR1A (D327N)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +1 more	GUncertain significance
Select item 941110	NM_004329.3(BMPR1A):c.4C>T (p.Pro2Ser)	BMPR1A (P2S)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +1 more	GUncertain significance
Select item 937107	NM_004329.3(BMPR1A):c.1448T>C (p.Val483Ala)	BMPR1A (V483A)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +1 more	GUncertain significance
Select item 935902	NM_004329.3(BMPR1A):c.1015G>A (p.Ala339Thr)	BMPR1A (A339T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
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 825895	NM_004329.3(BMPR1A):c.568A>G (p.Asn190Asp)	BMPR1A (N190D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
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 824590	NM_004329.3(BMPR1A):c.409A>T (p.Thr137Ser)	BMPR1A (T137S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 823974	NM_004329.3(BMPR1A):c.35G>A (p.Gly12Glu)	BMPR1A (G12E)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +2 more	GUncertain significance
Select item 823741	NM_004329.3(BMPR1A):c.340C>G (p.Pro114Ala)	BMPR1A (P114A)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +2 more	GUncertain significance
Select item 822701	NM_004329.3(BMPR1A):c.874A>G (p.Ile292Val)	BMPR1A (I292V)	Single nucleotide variant (missense variant)	Polyposis syndrome, hereditary mixed, 2 +2 more	GUncertain significance
Select item 660599	NM_004329.3(BMPR1A):c.1000T>A (p.Leu334Met)	BMPR1A (L334M)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +2 more	GUncertain significance
Select item 655397	NM_004329.3(BMPR1A):c.100G>A (p.Gly34Arg)	BMPR1A (G34R)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +2 more	GUncertain significance
Select item 648592	NM_004329.3(BMPR1A):c.494T>C (p.Ile165Thr)	BMPR1A (I165T)	Single nucleotide variant (missense variant)	Polyposis syndrome, hereditary mixed, 2 +2 more	GUncertain significance
Select item 581263	NM_004329.3(BMPR1A):c.1260C>G (p.Asn420Lys)	BMPR1A (N420K)	Single nucleotide variant (missense variant)	Polyposis syndrome, hereditary mixed, 2 +2 more	GUncertain significance
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 573771	NM_004329.3(BMPR1A):c.708G>A (p.Met236Ile)	BMPR1A (M236I)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +2 more	GUncertain significance
Select item 529943	NM_004329.3(BMPR1A):c.322T>C (p.Phe108Leu)	BMPR1A (F108L)	Single nucleotide variant (missense variant)	Polyposis syndrome, hereditary mixed, 2 +1 more	GUncertain significance
Select item 529905	NM_004329.3(BMPR1A):c.496G>A (p.Ala166Thr)	BMPR1A (A166T)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +3 more	GUncertain significance
Select item 491007	NM_004329.3(BMPR1A):c.640C>A (p.Gln214Lys)	BMPR1A (Q214K)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +3 more	GUncertain significance
Select item 490994	NM_004329.3(BMPR1A):c.377G>A (p.Arg126Gln)	BMPR1A (R126Q)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +2 more	GUncertain significance
Select item 489699	NM_004329.3(BMPR1A):c.68-20A>G	BMPR1A	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 489698	NM_004329.3(BMPR1A):c.571C>T (p.Arg191Cys)	BMPR1A (R191C)	Single nucleotide variant (missense variant)	Polyposis syndrome, hereditary mixed, 2 +3 more	GUncertain significance
Select item 489690	NM_004329.3(BMPR1A):c.1481G>A (p.Arg494Gln)	BMPR1A (R494Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 489689	NM_004329.3(BMPR1A):c.1471G>A (p.Glu491Lys)	BMPR1A (E491K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 486813	NM_004329.3(BMPR1A):c.1416G>C (p.Glu472Asp)	BMPR1A (E472D)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +2 more	GUncertain significance
Select item 485368	NM_004329.3(BMPR1A):c.1048T>C (p.Tyr350His)	BMPR1A (Y350H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
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 482842	NM_004329.3(BMPR1A):c.242A>T (p.His81Leu)	BMPR1A (H81L)	Single nucleotide variant (missense variant)	Polyposis syndrome, hereditary mixed, 2 +2 more	GUncertain significance
Select item 460519	NM_004329.3(BMPR1A):c.97A>G (p.Thr33Ala)	BMPR1A (T33A)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 460487	NM_004329.3(BMPR1A):c.1456C>T (p.Arg486Trp)	BMPR1A (R486W)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 460486	NM_004329.3(BMPR1A):c.1444A>G (p.Ile482Val)	BMPR1A (I482V)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +3 more	GUncertain significance
Select item 460484	NM_004329.3(BMPR1A):c.1380G>C (p.Met460Ile)	BMPR1A (M460I)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +3 more	GUncertain significance
Select item 460475	NM_004329.3(BMPR1A):c.1171A>T (p.Thr391Ser)	BMPR1A (T391S)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +1 more	GUncertain significance
Select item 449255	NM_004329.3(BMPR1A):c.712C>G (p.Arg238Gly)	BMPR1A (R238G)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +4 more	GConflicting classifications of pathogenicity
Select item 438903	NM_004329.3(BMPR1A):c.418C>T (p.Pro140Ser)	BMPR1A (P140S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 422008	NM_004329.3(BMPR1A):c.1237_1239dup (p.Leu413dup)	BMPR1A	Duplication (inframe_insertion)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 418873	NM_004329.3(BMPR1A):c.233C>T (p.Thr78Ile)	BMPR1A (T78I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 418744	NM_004329.3(BMPR1A):c.1572G>T (p.Met524Ile)	BMPR1A (M524I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 411647	NM_004329.3(BMPR1A):c.761G>A (p.Arg254His)	BMPR1A (R254H)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +4 more	GUncertain significance
Select item 411645	NM_004329.3(BMPR1A):c.74A>G (p.Asn25Ser)	BMPR1A (N25S)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +3 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 411642	NM_004329.3(BMPR1A):c.949_952del (p.Leu317fs)	BMPR1A (L317fs)	Microsatellite (frameshift variant)	Juvenile polyposis syndrome +2 more	GPathogenic
Select item 411639	NM_004329.3(BMPR1A):c.731G>A (p.Arg244Gln)	BMPR1A (R244Q)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +3 more	GConflicting classifications of pathogenicity
Select item 411628	NM_004329.3(BMPR1A):c.967T>C (p.Cys323Arg)	BMPR1A (C323R)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +3 more	GUncertain significance
Select item 411624	NM_004329.3(BMPR1A):c.1513G>A (p.Ala505Thr)	BMPR1A (A505T)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +3 more	GConflicting classifications of pathogenicity
Select item 411619	NM_004329.3(BMPR1A):c.1069G>A (p.Ala357Thr)	BMPR1A (A357T)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +3 more	GConflicting classifications of pathogenicity
Select item 411618	NM_004329.3(BMPR1A):c.1153G>A (p.Val385Ile)	BMPR1A (V385I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 374165	NM_004329.3(BMPR1A):c.502ATC[1] (p.Ile169del)	BMPR1A (I169del)	Microsatellite (inframe_deletion)	Aplasia/Hypoplasia involving the metacarpal bones +4 more	GUncertain significance
Select item 301360	NM_004329.3(BMPR1A):c.*487A>G	BMPR1A	Single nucleotide variant (3 prime UTR variant)	Polyposis syndrome, hereditary mixed, 2 +2 more	GUncertain significance
Select item 301353	NM_004329.3(BMPR1A):c.1498A>G (p.Met500Val)	BMPR1A (M500V)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension associated with congenital heart disease +6 more	GConflicting classifications of pathogenicity
Select item 301352	NM_004329.3(BMPR1A):c.1342+6A>G	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome +4 more	GBenign
Select item 259287	NM_004329.3(BMPR1A):c.675+12G>A	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome +4 more	GBenign
Select item 246466	NM_004329.3(BMPR1A):c.562C>T (p.Arg188Cys)	BMPR1A (R188C)	Single nucleotide variant (missense variant)	BMPR1A-related condition +5 more	GConflicting classifications of pathogenicity
Select item 246321	NM_004329.3(BMPR1A):c.987A>C (p.Arg329Ser)	BMPR1A (R329S)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +4 more	GConflicting classifications of pathogenicity
Select item 246018	NM_004329.3(BMPR1A):c.1166G>A (p.Ser389Asn)	BMPR1A (S389N)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +3 more	GUncertain significance
Select item 239862	NM_004329.3(BMPR1A):c.505A>T (p.Ile169Phe)	BMPR1A (I169F)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +3 more	GConflicting classifications of pathogenicity
Select item 239858	NM_004329.3(BMPR1A):c.1568A>G (p.Lys523Arg)	BMPR1A (K523R)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +3 more	GUncertain significance
Select item 239857	NM_004329.3(BMPR1A):c.1520A>G (p.Asn507Ser)	BMPR1A (N507S)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +6 more	GConflicting classifications of pathogenicity
Select item 232773	NM_004329.3(BMPR1A):c.560G>A (p.Arg187His)	BMPR1A (R187H)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 231113	NM_004329.3(BMPR1A):c.49A>C (p.Ile17Leu)	BMPR1A (I17L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 230621	NM_004329.3(BMPR1A):c.347C>T (p.Ala116Val)	BMPR1A (A116V)	Single nucleotide variant (missense variant)	Polyposis syndrome, hereditary mixed, 2 +2 more	GUncertain significance
Select item 230346	NM_004329.3(BMPR1A):c.1438C>T (p.Arg480Trp)	BMPR1A (R480W)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +3 more	GConflicting classifications of pathogenicity
Select item 229681	NM_004329.3(BMPR1A):c.634C>A (p.Gln212Lys)	BMPR1A (Q212K)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 220527	NM_004329.3(BMPR1A):c.1141C>G (p.Leu381Val)	BMPR1A (L381V)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +3 more	GUncertain significance
Select item 219715	NM_004329.3(BMPR1A):c.563G>A (p.Arg188His)	BMPR1A (R188H)	Single nucleotide variant (missense variant)	not provided +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)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 216583	NM_004329.3(BMPR1A):c.519C>G (p.Cys173Trp)	BMPR1A (C173W)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 216577	NM_004329.3(BMPR1A):c.1274A>T (p.Tyr425Phe)	BMPR1A (Y425F)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
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 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 185192	NM_004329.3(BMPR1A):c.1379T>C (p.Met460Thr)	BMPR1A (M460T)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +4 more	GConflicting classifications of pathogenicity
Select item 183728	NM_004329.3(BMPR1A):c.1081C>T (p.Arg361Ter)	BMPR1A (R361*)	Single nucleotide variant (nonsense)	Juvenile polyposis syndrome +4 more	GPathogenic
Select item 183708	NM_004329.3(BMPR1A):c.435G>A (p.Pro145=)	BMPR1A	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 182070	NM_004329.3(BMPR1A):c.1082G>A (p.Arg361Gln)	BMPR1A (R361Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 182068	NM_004329.3(BMPR1A):c.911A>G (p.Gln304Arg)	BMPR1A (Q304R)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +4 more	GConflicting classifications of pathogenicity
Select item 142599	NM_004329.3(BMPR1A):c.760C>T (p.Arg254Cys)	BMPR1A (R254C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity

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