"Ambry Genetics"[submitter] AND "BMPR1A"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 301350	NM_004329.3(BMPR1A):c.-25A>G	BMPR1A	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 489679	NM_004329.3(BMPR1A):c.-3A>G	BMPR1A	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 820478	NM_004329.3(BMPR1A):c.-1A>C	BMPR1A	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
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 186704	NM_004329.3(BMPR1A):c.1A>G (p.Met1Val)	BMPR1A (M1V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 824482	NM_004329.3(BMPR1A):c.3G>A (p.Met1Ile)	BMPR1A (M1I)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 41782	NM_004329.3(BMPR1A):c.4C>A (p.Pro2Thr)	BMPR1A (P2T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +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 957917	NM_004329.3(BMPR1A):c.9G>C (p.Gln3His)	BMPR1A (Q3H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 823600	NM_004329.3(BMPR1A):c.9G>A (p.Gln3=)	BMPR1A	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1156310	NM_004329.3(BMPR1A):c.10C>T (p.Leu4=)	BMPR1A	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GBenign/Likely benign
Select item 215828	NM_004329.3(BMPR1A):c.12A>G (p.Leu4=)	BMPR1A	Single nucleotide variant (synonymous variant)	Juvenile polyposis syndrome +2 more	GBenign/Likely benign
Select item 747449	NM_004329.3(BMPR1A):c.15C>T (p.Tyr5=)	BMPR1A	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GBenign/Likely benign
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 942964	NM_004329.3(BMPR1A):c.16A>G (p.Ile6Val)	BMPR1A (I6V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 490987	NM_004329.3(BMPR1A):c.19T>C (p.Tyr7His)	BMPR1A (Y7H)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +1 more	GUncertain significance
Select item 3223950	NM_004329.3(BMPR1A):c.24_31del (p.Arg9fs)	BMPR1A (R9fs)	Deletion (frameshift variant +3 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 1789248	NM_004329.3(BMPR1A):c.22A>T (p.Ile8Phe)	BMPR1A (I8F)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +1 more	GUncertain significance
Select item 216580	NM_004329.3(BMPR1A):c.22A>G (p.Ile8Val)	BMPR1A (I8V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1790723	NM_004329.3(BMPR1A):c.23T>G (p.Ile8Ser)	BMPR1A (I8S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 490988	NM_004329.3(BMPR1A):c.24C>T (p.Ile8=)	BMPR1A	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GBenign/Likely benign
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 1713296	NM_004329.3(BMPR1A):c.26G>A (p.Arg9Lys)	BMPR1A (R9K)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +1 more	GUncertain significance
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 383960	NM_004329.3(BMPR1A):c.27A>G (p.Arg9=)	BMPR1A	Single nucleotide variant (synonymous variant)	Juvenile polyposis syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2626631	NM_004329.3(BMPR1A):c.30A>T (p.Leu10Phe)	BMPR1A (L10F)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 186157	NM_004329.3(BMPR1A):c.30A>G (p.Leu10=)	BMPR1A	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GBenign/Likely benign
Select item 220588	NM_004329.3(BMPR1A):c.33G>A (p.Leu11=)	BMPR1A	Single nucleotide variant (synonymous variant)	Juvenile polyposis syndrome +4 more	GConflicting classifications of pathogenicity
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 1735055	NM_004329.3(BMPR1A):c.37G>T (p.Ala13Ser)	BMPR1A (A13S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 239861	NM_004329.3(BMPR1A):c.37G>A (p.Ala13Thr)	BMPR1A (A13T)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +1 more	GUncertain significance
Select item 1430706	NM_004329.3(BMPR1A):c.38C>T (p.Ala13Val)	BMPR1A (A13V)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +1 more	GUncertain significance
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 1736855	NM_004329.3(BMPR1A):c.39C>G (p.Ala13=)	BMPR1A	Single nucleotide variant (synonymous variant +3 more)	Hereditary cancer-predisposing syndrome +1 more	GBenign/Likely benign
Select item 3223952	NM_004329.3(BMPR1A):c.40T>A (p.Tyr14Asn)	BMPR1A (Y14N)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1396822	NM_004329.3(BMPR1A):c.41A>G (p.Tyr14Cys)	BMPR1A (Y14C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 529908	NM_004329.3(BMPR1A):c.44_47del (p.Leu15fs)	BMPR1A (L15fs)	Deletion (frameshift variant)	Juvenile polyposis syndrome +2 more	GPathogenic
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 1607413	NM_004329.3(BMPR1A):c.45G>A (p.Leu15=)	BMPR1A	Single nucleotide variant (synonymous variant)	Juvenile polyposis syndrome +1 more	GLikely benign
Select item 1172388	NM_004329.3(BMPR1A):c.45G>C (p.Leu15Phe)	BMPR1A (L15F)	Single nucleotide variant (missense variant)	Juvenile polyposis 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 1743945	NM_004329.3(BMPR1A):c.48C>T (p.Phe16=)	BMPR1A	Single nucleotide variant (synonymous variant +3 more)	Hereditary cancer-predisposing syndrome	GLikely benign
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 1746015	NM_004329.3(BMPR1A):c.51C>T (p.Ile17=)	BMPR1A	Single nucleotide variant (synonymous variant +3 more)	Juvenile polyposis syndrome +2 more	GConflicting classifications of pathogenicity
Select item 965154	NM_004329.3(BMPR1A):c.53T>C (p.Ile18Thr)	BMPR1A (I18T)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1747973	NM_004329.3(BMPR1A):c.54T>G (p.Ile18Met)	BMPR1A (I18M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 928208	NM_004329.3(BMPR1A):c.56C>T (p.Ser19Phe)	BMPR1A (S19F)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +1 more	GUncertain significance
Select item 3223958	NM_004329.3(BMPR1A):c.57T>G (p.Ser19=)	BMPR1A	Single nucleotide variant (synonymous variant +3 more)	Hereditary cancer-predisposing syndrome	GLikely benign
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 1753334	NM_004329.3(BMPR1A):c.63T>C (p.Val21=)	BMPR1A	Single nucleotide variant (synonymous variant +3 more)	Hereditary cancer-predisposing syndrome +1 more	GBenign/Likely benign
Select item 826449	NM_004329.3(BMPR1A):c.64C>G (p.Gln22Glu)	BMPR1A (Q22E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
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 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 188214	NM_004329.3(BMPR1A):c.66A>C (p.Gln22His)	BMPR1A (Q22H)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +2 more	GUncertain significance
Select item 429091	NM_004329.3(BMPR1A):c.67G>A (p.Gly23Arg)	BMPR1A (G23R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 3223961	NM_004329.3(BMPR1A):c.67+5del	BMPR1A	Deletion (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3076201	NM_004329.3(BMPR1A):c.68-15_68-12del	BMPR1A	Deletion (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 416802	NM_004329.3(BMPR1A):c.68-5T>C	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome +1 more	GConflicting classifications of pathogenicity
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 429095	NM_004329.3(BMPR1A):c.68-1G>C	BMPR1A	Single nucleotide variant (splice acceptor variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1091876	NM_004329.3(BMPR1A):c.69A>G (p.Gly23=)	BMPR1A	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GBenign/Likely benign
Select item 3261216	NM_004329.3(BMPR1A):c.70C>A (p.Gln24Lys)	BMPR1A (Q24K)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome	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 3223966	NM_004329.3(BMPR1A):c.79G>A (p.Asp27Asn)	BMPR1A (D27N)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 662120	NM_004329.3(BMPR1A):c.79G>T (p.Asp27Tyr)	BMPR1A (D27Y)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 663629	NM_004329.3(BMPR1A):c.80A>G (p.Asp27Gly)	BMPR1A (D27G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
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 1764723	NM_004329.3(BMPR1A):c.87G>A (p.Met29Ile)	BMPR1A (M29I +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1765413	NM_004329.3(BMPR1A):c.89T>C (p.Leu30Pro)	BMPR1A (L2P +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 489701	NM_004329.3(BMPR1A):c.89T>G (p.Leu30Arg)	BMPR1A (L30R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1215102	NM_004329.3(BMPR1A):c.90T>C (p.Leu30=)	BMPR1A	Single nucleotide variant (synonymous variant)	Juvenile polyposis syndrome +2 more	GBenign/Likely benign
Select item 823219	NM_004329.3(BMPR1A):c.93T>A (p.His31Gln)	BMPR1A (H31Q)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +1 more	GUncertain significance
Select item 482860	NM_004329.3(BMPR1A):c.93T>C (p.His31=)	BMPR1A	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GBenign/Likely benign
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 1767882	NM_004329.3(BMPR1A):c.96C>T (p.Gly32=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GBenign/Likely benign
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 411623	NM_004329.3(BMPR1A):c.98C>G (p.Thr33Ser)	BMPR1A (T33S)	Single nucleotide variant (missense variant)	BMPR1A-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 1483039	NM_004329.3(BMPR1A):c.100G>T (p.Gly34Trp)	BMPR1A (G34W)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +1 more	GUncertain significance
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 1755797	NM_004329.3(BMPR1A):c.101G>A (p.Gly34Glu)	BMPR1A (G34E +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 182064	NM_004329.3(BMPR1A):c.101G>C (p.Gly34Ala)	BMPR1A (G34A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 232736	NM_004329.3(BMPR1A):c.102G>A (p.Gly34=)	BMPR1A	Single nucleotide variant (synonymous variant)	Juvenile polyposis syndrome +1 more	GLikely benign
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 1797298	NM_004329.3(BMPR1A):c.111dup (p.Asp38fs)	BMPR1A (D38fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 1728055	NM_004329.3(BMPR1A):c.113_114delinsGA (p.Asp38Gly)	BMPR1A (D10G +1 more)	Indel (missense variant)	Hereditary cancer-predisposing 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 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 460476	NM_004329.3(BMPR1A):c.117C>T (p.Ser39=)	BMPR1A	Single nucleotide variant (synonymous variant)	Juvenile polyposis syndrome +3 more	GBenign/Likely 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	GBenign/Likely benign
Select item 1495312	NM_004329.3(BMPR1A):c.118G>T (p.Asp40Tyr)	BMPR1A (D40Y)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +1 more	GUncertain significance
Select item 818547	NM_004329.3(BMPR1A):c.118G>C (p.Asp40His)	BMPR1A (D40H)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +1 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 529912	NM_004329.3(BMPR1A):c.119A>G (p.Asp40Gly)	BMPR1A (D40G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 411634	NM_004329.3(BMPR1A):c.119A>C (p.Asp40Ala)	BMPR1A (D40A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 919477	NM_004329.3(BMPR1A):c.120C>A (p.Asp40Glu)	BMPR1A (D40E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
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 1075769	NM_004329.3(BMPR1A):c.127_137del (p.Lys43fs)	BMPR1A (K43fs)	Deletion (frameshift variant)	Juvenile polyposis syndrome +1 more	GPathogenic
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

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