C1864730[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 941110	NM_004329.3(BMPR1A):c.4C>T (p.Pro2Ser)	BMPR1A (P2S)	Single nucleotide variant (missense variant)	Polyposis syndrome, hereditary mixed, 2 +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 449879	NM_004329.3(BMPR1A):c.26G>C (p.Arg9Thr)	BMPR1A (R9T)	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)	Hereditary cancer-predisposing syndrome +2 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 421650	NM_004329.3(BMPR1A):c.65A>C (p.Gln22Pro)	BMPR1A (Q22P)	Single nucleotide variant (missense variant)	Polyposis syndrome, hereditary mixed, 2 +3 more	GUncertain significance
Select item 2851621	NM_004329.3(BMPR1A):c.67+1G>A	BMPR1A	Single nucleotide variant (splice donor variant +1 more)	Polyposis syndrome, hereditary mixed, 2 +1 more	GPathogenic/Likely pathogenic
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 918991	NM_004329.3(BMPR1A):c.71A>G (p.Gln24Arg)	BMPR1A (Q24R)	Single nucleotide variant (missense variant)	Polyposis syndrome, hereditary mixed, 2 +2 more	GUncertain significance
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 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 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)	not provided +3 more	GConflicting classifications of pathogenicity
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 655397	NM_004329.3(BMPR1A):c.100G>A (p.Gly34Arg)	BMPR1A (G34R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1016290	NM_004329.3(BMPR1A):c.103A>G (p.Met35Val)	BMPR1A (M35V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 230945	NM_004329.3(BMPR1A):c.116C>T (p.Ser39Phe)	BMPR1A (S39F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
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 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 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 1772471	NM_004329.3(BMPR1A):c.142G>A (p.Val48Ile)	BMPR1A (V48I +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	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 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 489692	NM_004329.3(BMPR1A):c.256A>G (p.Ile86Val)	BMPR1A (I86V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 232019	NM_004329.3(BMPR1A):c.257T>C (p.Ile86Thr)	BMPR1A (I86T)	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)	Juvenile polyposis syndrome +1 more	GUncertain significance
Select item 823741	NM_004329.3(BMPR1A):c.340C>G (p.Pro114Ala)	BMPR1A (P114A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
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	GConflicting classifications of pathogenicity
Select item 482865	NM_004329.3(BMPR1A):c.350A>G (p.Gln117Arg)	BMPR1A (Q117R)	Single nucleotide variant (missense variant)	Polyposis syndrome, hereditary mixed, 2 +3 more	GUncertain significance
Select item 2136905	NM_004329.3(BMPR1A):c.359G>C (p.Arg120Pro)	BMPR1A (R120P +1 more)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +1 more	GUncertain significance
Select item 460498	NM_004329.3(BMPR1A):c.365T>C (p.Ile122Thr)	BMPR1A (I122T)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +2 more	GUncertain significance
Select item 8234	NM_004329.3(BMPR1A):c.370T>C (p.Cys124Arg)	BMPR1A (C124R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 490994	NM_004329.3(BMPR1A):c.377G>A (p.Arg126Gln)	BMPR1A (R126Q)	Single nucleotide variant (missense variant)	Polyposis syndrome, hereditary mixed, 2 +2 more	GUncertain significance
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 490997	NM_004329.3(BMPR1A):c.416C>G (p.Pro139Arg)	BMPR1A (P139R)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +2 more	GUncertain significance
Select item 438903	NM_004329.3(BMPR1A):c.418C>T (p.Pro140Ser)	BMPR1A (P140S)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 1738902	NM_004329.3(BMPR1A):c.420TGT[3] (p.Val142_Ile143insVal)	BMPR1A	Microsatellite (inframe_indel +1 more)	Polyposis syndrome, hereditary mixed, 2 +1 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 3240936	NM_004329.3(BMPR1A):c.460C>A (p.Leu154Met)	BMPR1A (L126M +1 more)	Single nucleotide variant (missense variant +2 more)	Polyposis syndrome, hereditary mixed, 2	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 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 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 924435	NM_004329.3(BMPR1A):c.511T>C (p.Ser171Pro)	BMPR1A (S171P)	Single nucleotide variant (missense variant)	Polyposis syndrome, hereditary mixed, 2 +3 more	GUncertain significance
Select item 216583	NM_004329.3(BMPR1A):c.519C>G (p.Cys173Trp)	BMPR1A (C173W)	Single nucleotide variant (missense variant)	Polyposis syndrome, hereditary mixed, 2 +2 more	GUncertain significance
Select item 187666	NM_004329.3(BMPR1A):c.524G>A (p.Cys175Tyr)	BMPR1A (C175Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1747588	NM_004329.3(BMPR1A):c.544A>G (p.Ser182Gly)	BMPR1A (S182G +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 142098	NM_004329.3(BMPR1A):c.559C>T (p.Arg187Cys)	BMPR1A (R187C)	Single nucleotide variant (missense variant)	Polyposis syndrome, hereditary mixed, 2 +3 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 specified +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 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 136051	NM_004329.3(BMPR1A):c.569A>G (p.Asn190Ser)	BMPR1A (N190S)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
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 951616	NM_004329.3(BMPR1A):c.586G>A (p.Asp196Asn)	BMPR1A (D196N)	Single nucleotide variant (missense variant)	Polyposis syndrome, hereditary mixed, 2 +1 more	GUncertain significance
Select item 411627	NM_004329.3(BMPR1A):c.587A>G (p.Asp196Gly)	BMPR1A (D196G)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1507738	NM_004329.3(BMPR1A):c.629T>G (p.Ile210Ser)	BMPR1A (I210S)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +1 more	GUncertain significance
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 491007	NM_004329.3(BMPR1A):c.640C>A (p.Gln214Lys)	BMPR1A (Q214K)	Single nucleotide variant (missense variant)	not provided +3 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 3240935	NM_004329.3(BMPR1A):c.667C>T (p.Pro223Ser)	BMPR1A (P195S +3 more)	Single nucleotide variant (missense variant +2 more)	Polyposis syndrome, hereditary mixed, 2	GUncertain significance
Select item 127902	NM_004329.3(BMPR1A):c.676G>T (p.Val226Phe)	BMPR1A (V226F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 826657	NM_004329.3(BMPR1A):c.683G>A (p.Arg228Gln)	BMPR1A (R228Q)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +2 more	GUncertain significance
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 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 529901	NM_004329.3(BMPR1A):c.703C>G (p.Gln235Glu)	BMPR1A (Q235E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	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 573771	NM_004329.3(BMPR1A):c.708G>A (p.Met236Ile)	BMPR1A (M236I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 449255	NM_004329.3(BMPR1A):c.712C>G (p.Arg238Gly)	BMPR1A (R238G)	Single nucleotide variant (missense variant)	BMPR1A-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 411637	NM_004329.3(BMPR1A):c.718G>A (p.Val240Ile)	BMPR1A (V240I)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +3 more	GUncertain significance
Select item 648038	NM_004329.3(BMPR1A):c.730C>G (p.Arg244Gly)	BMPR1A (R244G)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
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 141942	NM_004329.3(BMPR1A):c.733T>A (p.Tyr245Asn)	BMPR1A (Y245N)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +4 more	GConflicting classifications of pathogenicity
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 460511	NM_004329.3(BMPR1A):c.751G>T (p.Gly251Cys)	BMPR1A (G251C)	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)	Generalized juvenile polyposis/juvenile polyposis coli +5 more	GConflicting classifications of pathogenicity
Select item 411647	NM_004329.3(BMPR1A):c.761G>A (p.Arg254His)	BMPR1A (R254H)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +4 more	GConflicting classifications of pathogenicity
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 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 1761862	NM_004329.3(BMPR1A):c.806C>G (p.Ala269Gly)	BMPR1A (A241G +5 more)	Single nucleotide variant (missense variant)	Polyposis syndrome, hereditary mixed, 2 +2 more	GUncertain significance
Select item 418880	NM_004329.3(BMPR1A):c.839C>G (p.Thr280Ser)	BMPR1A (T280S)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +3 more	GUncertain significance
Select item 1763463	NM_004329.3(BMPR1A):c.845T>C (p.Leu282Pro)	BMPR1A (L254P +5 more)	Single nucleotide variant (missense variant)	Polyposis syndrome, hereditary mixed, 2 +1 more	GUncertain significance
Select item 822701	NM_004329.3(BMPR1A):c.874A>G (p.Ile292Val)	BMPR1A (I292V)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +2 more	GUncertain significance
Select item 460515	NM_004329.3(BMPR1A):c.886A>G (p.Ile296Val)	BMPR1A (I296V)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +2 more	GUncertain significance
Select item 182068	NM_004329.3(BMPR1A):c.911A>G (p.Gln304Arg)	BMPR1A (Q304R)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 182069	NM_004329.3(BMPR1A):c.943G>A (p.Gly315Arg)	BMPR1A (G315R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing 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 127903	NM_004329.3(BMPR1A):c.953A>G (p.Tyr318Cys)	BMPR1A (Y318C)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +5 more	GConflicting classifications of pathogenicity
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 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 411628	NM_004329.3(BMPR1A):c.967T>C (p.Cys323Arg)	BMPR1A (C323R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 460518	NM_004329.3(BMPR1A):c.973A>G (p.Thr325Ala)	BMPR1A (T325A)	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)	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 246321	NM_004329.3(BMPR1A):c.987A>C (p.Arg329Ser)	BMPR1A (R329S)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1768501	NM_004329.3(BMPR1A):c.988G>C (p.Ala330Pro)	BMPR1A (A302P +5 more)	Single nucleotide variant (missense variant)	Polyposis syndrome, hereditary mixed, 2 +1 more	GUncertain significance
Select item 141898	NM_004329.3(BMPR1A):c.989C>T (p.Ala330Val)	BMPR1A (A330V)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +2 more	GConflicting classifications of pathogenicity

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