"Myriad Genetics, Inc."[submitter] AND "BMPR1A"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 429102	NM_004329.3(BMPR1A):c.1A>C (p.Met1Leu)	BMPR1A (M1L)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome +1 more	GPathogenic/Likely pathogenic
Select item 224521	NM_004329.3(BMPR1A):c.3G>C (p.Met1Ile)	BMPR1A (M1I)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome +1 more	GPathogenic/Likely pathogenic
Select item 182062	NM_004329.3(BMPR1A):c.5C>T (p.Pro2Leu)	BMPR1A (P2L)	Single nucleotide variant (missense variant)	Generalized juvenile polyposis/juvenile polyposis coli +3 more	GConflicting classifications of pathogenicity
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 619782	NM_004329.3(BMPR1A):c.39del (p.Tyr14fs)	BMPR1A (Y14fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 220321	NM_004329.3(BMPR1A):c.59G>A (p.Arg20His)	BMPR1A (R20H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 452092	NM_004329.3(BMPR1A):c.64C>T (p.Gln22Ter)	BMPR1A (Q22*)	Single nucleotide variant (nonsense)	Juvenile polyposis syndrome +2 more	GPathogenic
Select item 491011	NM_004329.3(BMPR1A):c.68-12A>G	BMPR1A	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 216584	NM_004329.3(BMPR1A):c.83G>A (p.Ser28Asn)	BMPR1A (S28N)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1797298	NM_004329.3(BMPR1A):c.111dup (p.Asp38fs)	BMPR1A (D38fs)	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 567654	NM_004329.3(BMPR1A):c.139G>T (p.Gly47Ter)	BMPR1A (G47*)	Single nucleotide variant (nonsense)	Juvenile polyposis syndrome	GPathogenic
Select item 186884	NM_004329.3(BMPR1A):c.140G>A (p.Gly47Glu)	BMPR1A (G47E)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2583821	NM_004329.3(BMPR1A):c.158dup (p.Asp54fs)	BMPR1A (D26fs +1 more)	Duplication (frameshift variant +1 more)	Juvenile polyposis syndrome	GPathogenic
Select item 2583795	NM_004329.3(BMPR1A):c.176dup (p.Leu59fs)	BMPR1A (L31fs +1 more)	Duplication (frameshift variant +1 more)	Juvenile polyposis syndrome	GPathogenic
Select item 371995	NM_004329.3(BMPR1A):c.170C>G (p.Pro57Arg)	BMPR1A (P57R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
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 2583667	NM_004329.3(BMPR1A):c.181_182dup (p.Tyr62fs)	BMPR1A (Y34fs +1 more)	Duplication (frameshift variant +1 more)	Juvenile polyposis syndrome	GPathogenic
Select item 136050	NM_004329.3(BMPR1A):c.198C>T (p.His66=)	BMPR1A	Single nucleotide variant (synonymous variant)	Juvenile polyposis syndrome +3 more	GBenign/Likely benign
Select item 184498	NM_004329.3(BMPR1A):c.216dup (p.Asn73Ter)	BMPR1A (N73*)	Duplication (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 188270	NM_004329.3(BMPR1A):c.247_251del (p.Phe83fs)	BMPR1A (F83fs)	Deletion (frameshift variant)	Juvenile polyposis syndrome +1 more	GPathogenic
Select item 2584193	NM_004329.3(BMPR1A):c.262del (p.Glu88fs)	BMPR1A (E60fs +1 more)	Deletion (frameshift variant +1 more)	Juvenile polyposis syndrome	GPathogenic
Select item 182065	NM_004329.3(BMPR1A):c.262G>T (p.Glu88Ter)	BMPR1A (E88*)	Single nucleotide variant (nonsense)	Juvenile polyposis syndrome +2 more	GPathogenic
Select item 2583453	NM_004329.3(BMPR1A):c.294dup (p.Gly99fs)	BMPR1A (G71fs +1 more)	Duplication (frameshift variant +1 more)	Juvenile polyposis syndrome	GPathogenic
Select item 3148059	NM_004329.3(BMPR1A):c.333A>G (p.Lys111=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GLikely benign
Select item 371878	NM_004329.3(BMPR1A):c.334-16A>G	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome +1 more	GLikely benign
Select item 2584273	NM_004329.3(BMPR1A):c.349C>T (p.Gln117Ter)	BMPR1A (Q117* +1 more)	Single nucleotide variant (nonsense +2 more)	Juvenile polyposis syndrome	GPathogenic
Select item 142484	NM_004329.3(BMPR1A):c.355C>T (p.Arg119Cys)	BMPR1A (R119C)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +2 more	GConflicting classifications of pathogenicity
Select item 419669	NM_004329.3(BMPR1A):c.360del (p.Thr121fs)	BMPR1A (T121fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	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 233491	NM_004329.3(BMPR1A):c.405dup (p.Pro136fs)	BMPR1A (P136fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 2583586	NM_004329.3(BMPR1A):c.430_430+55del	BMPR1A	Deletion (splice donor variant +1 more)	Juvenile polyposis syndrome	GLikely pathogenic
Select item 2584235	NM_004329.3(BMPR1A):c.430+1G>T	BMPR1A	Single nucleotide variant (splice donor variant +1 more)	Juvenile polyposis syndrome	GLikely pathogenic
Select item 2583227	NM_004329.3(BMPR1A):c.431-1G>C	BMPR1A	Single nucleotide variant (splice acceptor variant +1 more)	Juvenile polyposis syndrome	GLikely pathogenic
Select item 2583194	NM_004329.3(BMPR1A):c.441del (p.Phe147fs)	BMPR1A (F147fs)	Deletion (frameshift variant)	Juvenile polyposis syndrome	GPathogenic
Select item 429099	NM_004329.3(BMPR1A):c.454C>T (p.Arg152Ter)	BMPR1A (R152*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 2673977	NM_004329.3(BMPR1A):c.485del (p.Val162fs)	BMPR1A (V134fs +1 more)	Deletion (frameshift variant +2 more)	Juvenile polyposis syndrome	GPathogenic
Select item 188242	NM_004329.3(BMPR1A):c.499A>G (p.Met167Val)	BMPR1A (M167V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 183788	NM_004329.3(BMPR1A):c.510C>T (p.Phe170=)	BMPR1A	Single nucleotide variant (synonymous variant)	Generalized juvenile polyposis/juvenile polyposis coli +4 more	GBenign/Likely benign
Select item 2584111	NM_004329.3(BMPR1A):c.528C>A (p.Tyr176Ter)	BMPR1A (Y148* +1 more)	Single nucleotide variant (nonsense +2 more)	Juvenile polyposis syndrome	GPathogenic
Select item 429107	NM_004329.3(BMPR1A):c.551C>G (p.Ser184Ter)	BMPR1A (S184*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 136051	NM_004329.3(BMPR1A):c.569A>G (p.Asn190Ser)	BMPR1A (N190S)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +4 more	GUncertain significance
Select item 460506	NM_004329.3(BMPR1A):c.578dup (p.Leu193fs)	BMPR1A (L193fs)	Duplication (frameshift variant)	Juvenile polyposis syndrome	GPathogenic
Select item 2583504	NM_004329.3(BMPR1A):c.587_612del (p.Asp196fs)	BMPR1A (D168fs +3 more)	Deletion (frameshift variant +2 more)	Juvenile polyposis syndrome	GPathogenic
Select item 132739	NM_004329.3(BMPR1A):c.618A>G (p.Leu206=)	BMPR1A	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 2584156	NM_004329.3(BMPR1A):c.634del (p.Gln212fs)	BMPR1A (Q184fs +3 more)	Deletion (frameshift variant +2 more)	Juvenile polyposis syndrome	GPathogenic
Select item 2583343	NM_004329.3(BMPR1A):c.671del (p.Leu224fs)	BMPR1A (L196fs +3 more)	Deletion (frameshift variant +2 more)	Juvenile polyposis syndrome	GPathogenic
Select item 2583813	NM_004329.3(BMPR1A):c.674dup (p.Leu225fs)	BMPR1A (L197fs +3 more)	Duplication (frameshift variant +2 more)	Juvenile polyposis syndrome	GPathogenic
Select item 136053	NM_004329.3(BMPR1A):c.676-6A>C	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome +5 more	GConflicting classifications of pathogenicity
Select item 142843	NM_004329.3(BMPR1A):c.676-3A>C	BMPR1A	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2584130	NM_004329.3(BMPR1A):c.676-2A>G	BMPR1A	Single nucleotide variant (splice acceptor variant +1 more)	Juvenile polyposis syndrome	GLikely pathogenic
Select item 142735	NM_004329.3(BMPR1A):c.682C>T (p.Arg228Ter)	BMPR1A (R228*)	Single nucleotide variant (nonsense)	Generalized juvenile polyposis/juvenile polyposis coli +2 more	GPathogenic
Select item 141277	NM_004329.3(BMPR1A):c.713G>A (p.Arg238Gln)	BMPR1A (R238Q)	Single nucleotide variant (missense variant)	Generalized juvenile polyposis/juvenile polyposis coli +4 more	GConflicting classifications of pathogenicity
Select item 141942	NM_004329.3(BMPR1A):c.733T>A (p.Tyr245Asn)	BMPR1A (Y245N)	Single nucleotide variant (missense variant)	Generalized juvenile polyposis/juvenile polyposis coli +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)	Polyposis syndrome, hereditary mixed, 2 +6 more	GConflicting classifications of pathogenicity
Select item 1760075	NM_004329.3(BMPR1A):c.767_777del (p.Glu256fs)	BMPR1A (E256fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 2583533	NM_004329.3(BMPR1A):c.772del (p.Val258fs)	BMPR1A (V144fs +5 more)	Deletion (frameshift variant +1 more)	Juvenile polyposis syndrome	GPathogenic
Select item 142351	NM_004329.3(BMPR1A):c.817C>T (p.Arg273Ter)	BMPR1A (R273*)	Single nucleotide variant (nonsense)	Juvenile polyposis syndrome +2 more	GPathogenic
Select item 411631	NM_004329.3(BMPR1A):c.829A>G (p.Ile277Val)	BMPR1A (I277V)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +1 more	GUncertain significance
Select item 839418	NM_004329.3(BMPR1A):c.834C>G (p.Tyr278Ter)	BMPR1A (Y278*)	Single nucleotide variant (nonsense)	Juvenile polyposis syndrome	GPathogenic
Select item 182068	NM_004329.3(BMPR1A):c.911A>G (p.Gln304Arg)	BMPR1A (Q304R)	Single nucleotide variant (missense variant)	Polyposis syndrome, hereditary mixed, 2 +4 more	GConflicting classifications of pathogenicity
Select item 1456917	NM_004329.3(BMPR1A):c.924del (p.Thr309fs)	BMPR1A (T309fs)	Deletion (frameshift variant)	Juvenile polyposis syndrome	GPathogenic
Select item 411641	NM_004329.3(BMPR1A):c.934del (p.His312fs)	BMPR1A (H312fs)	Deletion (frameshift variant)	Juvenile polyposis syndrome +1 more	GPathogenic
Select item 2584300	NM_004329.3(BMPR1A):c.943G>T (p.Gly315Ter)	BMPR1A (G201* +5 more)	Single nucleotide variant (nonsense +1 more)	Juvenile polyposis syndrome	GPathogenic
Select item 2583193	NM_004329.3(BMPR1A):c.951_952dup (p.Tyr318fs)	BMPR1A (Y204fs +5 more)	Microsatellite (frameshift variant +1 more)	Juvenile polyposis syndrome	GPathogenic
Select item 411642	NM_004329.3(BMPR1A):c.949_952del (p.Leu317fs)	BMPR1A (L317fs)	Microsatellite (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 127903	NM_004329.3(BMPR1A):c.953A>G (p.Tyr318Cys)	BMPR1A (Y318C)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 2583613	NM_004329.3(BMPR1A):c.972dup (p.Thr325fs)	BMPR1A (T211fs +5 more)	Duplication (frameshift variant +1 more)	Juvenile polyposis syndrome	GPathogenic
Select item 545847	NM_004329.3(BMPR1A):c.987_992delinsTGTA (p.Arg329fs)	BMPR1A (R329fs)	Indel (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 186278	NM_004329.3(BMPR1A):c.993G>A (p.Leu331=)	BMPR1A	Single nucleotide variant (synonymous variant)	Juvenile polyposis syndrome +2 more	GBenign/Likely benign
Select item 2584264	NM_004329.3(BMPR1A):c.1029C>A (p.Cys343Ter)	BMPR1A (C229* +5 more)	Single nucleotide variant (nonsense +1 more)	Juvenile polyposis syndrome	GPathogenic
Select item 2583275	NM_004329.3(BMPR1A):c.1029_1032delinsGT (p.Cys343fs)	BMPR1A (C229fs +5 more)	Indel (frameshift variant +1 more)	Juvenile polyposis syndrome	GPathogenic
Select item 2583696	NM_004329.3(BMPR1A):c.1041del (p.Glu348fs)	BMPR1A (E234fs +5 more)	Deletion (frameshift variant +1 more)	Juvenile polyposis syndrome	GPathogenic
Select item 411640	NM_004329.3(BMPR1A):c.1059A>G (p.Gln353=)	BMPR1A	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 482862	NM_004329.3(BMPR1A):c.1061del (p.Gly354fs)	BMPR1A (G354fs)	Deletion (frameshift variant)	Juvenile polyposis syndrome +1 more	GPathogenic
Select item 489681	NM_004329.3(BMPR1A):c.1081C>G (p.Arg361Gly)	BMPR1A (R361G)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +2 more	GConflicting classifications of pathogenicity
Select item 183728	NM_004329.3(BMPR1A):c.1081C>T (p.Arg361Ter)	BMPR1A (R361*)	Single nucleotide variant (nonsense)	Polyposis syndrome, hereditary mixed, 2 +4 more	GPathogenic
Select item 2583701	NM_004329.3(BMPR1A):c.1127dup (p.Cys376fs)	BMPR1A (C262fs +5 more)	Duplication (frameshift variant +1 more)	Juvenile polyposis syndrome	GPathogenic
Select item 1332675	NM_004329.3(BMPR1A):c.1166+2T>C	BMPR1A	Single nucleotide variant (splice donor variant)	Juvenile polyposis syndrome +1 more	GLikely pathogenic
Select item 371910	NM_004329.3(BMPR1A):c.1167-13T>G	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2584231	NM_004329.3(BMPR1A):c.1208del (p.Gly403fs)	BMPR1A (G289fs +5 more)	Deletion (frameshift variant +1 more)	Juvenile polyposis syndrome	GPathogenic
Select item 141138	NM_004329.3(BMPR1A):c.1215A>C (p.Lys405Asn)	BMPR1A (K405N)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 140868	NM_004329.3(BMPR1A):c.1216C>T (p.Arg406Cys)	BMPR1A (R406C)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +3 more	GConflicting classifications of pathogenicity
Select item 2584154	NM_004329.3(BMPR1A):c.1230del (p.Glu411fs)	BMPR1A (E297fs +5 more)	Deletion (frameshift variant +1 more)	Juvenile polyposis syndrome	GPathogenic
Select item 216576	NM_004329.3(BMPR1A):c.1235T>C (p.Val412Ala)	BMPR1A (V412A)	Single nucleotide variant (missense variant)	BMPR1A-related condition +4 more	GConflicting classifications of pathogenicity
Select item 3148713	NM_004329.3(BMPR1A):c.1238del (p.Leu413fs)	BMPR1A (L385fs +5 more)	Deletion (frameshift variant +1 more)	Juvenile polyposis syndrome	GPathogenic
Select item 41779	NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys)	BMPR1A (E415K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 2584064	NM_004329.3(BMPR1A):c.1254del (p.Asn418fs)	BMPR1A (N304fs +5 more)	Deletion (frameshift variant +1 more)	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 2583767	NM_004329.3(BMPR1A):c.1265dup (p.Gln423fs)	BMPR1A (Q309fs +5 more)	Duplication (frameshift variant +1 more)	Juvenile polyposis syndrome	GPathogenic
Select item 2584230	NM_004329.3(BMPR1A):c.1275C>A (p.Tyr425Ter)	BMPR1A (Y311* +5 more)	Single nucleotide variant (nonsense +1 more)	Juvenile polyposis syndrome	GPathogenic
Select item 133717	NM_004329.3(BMPR1A):c.1327C>T (p.Arg443Cys)	BMPR1A (R443C)	Single nucleotide variant (missense variant)	BMPR1A-related condition +6 more	GConflicting classifications of pathogenicity
Select item 2584150	NM_004329.3(BMPR1A):c.1342+2T>C	BMPR1A	Single nucleotide variant (splice donor variant)	Juvenile polyposis syndrome	GLikely pathogenic
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 2673911	NM_004329.3(BMPR1A):c.1394del (p.Pro465fs)	BMPR1A (P351fs +5 more)	Deletion (frameshift variant +1 more)	Juvenile polyposis syndrome	GPathogenic/Likely pathogenic
Select item 8236	NM_004329.3(BMPR1A):c.1409T>C (p.Met470Thr)	BMPR1A (M470T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2583715	NM_004329.3(BMPR1A):c.1411del (p.Arg471fs)	BMPR1A (R357fs +5 more)	Deletion (frameshift variant +1 more)	Juvenile polyposis syndrome	GLikely pathogenic
Select item 246435	NM_004329.3(BMPR1A):c.1432C>T (p.Arg478Cys)	BMPR1A (R478C)	Single nucleotide variant (missense variant)	Generalized juvenile polyposis/juvenile polyposis coli +3 more	GConflicting classifications of pathogenicity
Select item 41780	NM_004329.3(BMPR1A):c.1433G>A (p.Arg478His)	BMPR1A (R478H)	Single nucleotide variant (missense variant)	Generalized juvenile polyposis/juvenile polyposis coli +5 more	GConflicting classifications of pathogenicity
Select item 2583318	NM_004329.3(BMPR1A):c.1473_1473+4del	BMPR1A	Deletion (splice donor variant)	Juvenile polyposis syndrome	GLikely pathogenic

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