ClinVar for Gene (Select 649) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3379806	NM_006129.5(BMP1):c.1375A>G (p.Lys459Glu)	BMP1, LOC113788269 (K459E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3375403	NM_006129.5(BMP1):c.1148G>A (p.Arg383Gln)	BMP1 (R383Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3375071	NM_006129.5(BMP1):c.18C>T (p.Arg6=)	BMP1, LOC129999976	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3375046	NM_006129.5(BMP1):c.1492G>A (p.Gly498Arg)	BMP1, LOC113788269 (G498R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3362740	NM_006129.5(BMP1):c.925G>A (p.Asp309Asn)	BMP1 (D309N)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 13	GUncertain significance
Select item 3351434	NM_006129.5(BMP1):c.1927-5T>C	BMP1	Single nucleotide variant (intron variant)	BMP1-related disorder	GLikely benign
Select item 3335965	NM_001199.4(BMP1):c.2191T>G (p.Ter731Gly)	BMP1	Single nucleotide variant (stop lost +2 more)	not specified	GUncertain significance
Select item 3261171	NM_006129.5(BMP1):c.740A>C (p.Tyr247Ser)	BMP1 (Y247S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3261170	NM_006129.5(BMP1):c.2033A>G (p.Tyr678Cys)	BMP1 (Y678C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3261169	NM_006129.5(BMP1):c.1123T>G (p.Cys375Gly)	BMP1 (C375G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3261168	NM_006129.5(BMP1):c.2295C>A (p.Asp765Glu)	BMP1 (D765E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3261167	NM_006129.5(BMP1):c.1921A>G (p.Asn641Asp)	BMP1 (N641D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3261166	NM_006129.5(BMP1):c.1503G>C (p.Glu501Asp)	BMP1, LOC113788269 (E501D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3261165	NM_006129.5(BMP1):c.974C>G (p.Thr325Ser)	BMP1 (T325S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3261164	NM_006129.5(BMP1):c.17G>T (p.Arg6Leu)	BMP1, LOC129999976 (R6L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3261163	NM_006129.5(BMP1):c.1511C>T (p.Thr504Ile)	BMP1, LOC113788269 (T504I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3251324	NM_006129.5(BMP1):c.361GCG[1] (p.Ala122del)	BMP1 (A122del)	Microsatellite (inframe_deletion +1 more)	not specified	GUncertain significance
Select item 3245573	NC_000008.10:g.(?_22031095)_(22038016_?)del	BMP1	Deletion	not provided	GPathogenic
Select item 3134505	NM_006129.5(BMP1):c.988A>G (p.Thr330Ala)	BMP1 (T330A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3134504	NM_006129.5(BMP1):c.932C>A (p.Ala311Asp)	BMP1 (A311D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3134503	NM_006129.5(BMP1):c.574C>T (p.Arg192Cys)	BMP1 (R192C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3134502	NM_006129.5(BMP1):c.440A>G (p.Gln147Arg)	BMP1 (Q147R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3134501	NM_006129.5(BMP1):c.2886C>G (p.Asp962Glu)	BMP1 (D962E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3134500	NM_006129.5(BMP1):c.2514C>G (p.Phe838Leu)	BMP1 (F838L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3134499	NM_006129.5(BMP1):c.2351G>A (p.Arg784Gln)	BMP1 (R784Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3134498	NM_006129.5(BMP1):c.2116G>A (p.Glu706Lys)	BMP1 (E706K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3134497	NM_006129.5(BMP1):c.1955G>A (p.Arg652His)	BMP1 (R652H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3134496	NM_006129.5(BMP1):c.1578G>C (p.Trp526Cys)	BMP1, LOC113788269 (W526C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3134495	NM_006129.5(BMP1):c.1374C>A (p.Ser458Arg)	BMP1, LOC113788269 (S458R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3134494	NM_006129.5(BMP1):c.1373G>T (p.Ser458Ile)	BMP1, LOC113788269 (S458I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3134493	NM_006129.5(BMP1):c.1366C>T (p.Arg456Trp)	BMP1, LOC113788269 (R456W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3134491	NM_006129.5(BMP1):c.1033C>T (p.His345Tyr)	BMP1 (H345Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3063038	GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3	ADAM18, ADAM2 +150 more	Copy number gain	not specified	GPathogenic
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	ADAM18, ADAM2 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3046030	NM_006129.5(BMP1):c.2108-593C>G	BMP1	Single nucleotide variant (3 prime UTR variant +2 more)	BMP1-related disorder	GLikely benign
Select item 3019989	NM_006129.5(BMP1):c.1728C>T (p.Pro576=)	BMP1, LOC113788269	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3018750	NM_006129.5(BMP1):c.263-4T>C	BMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3017270	NM_006129.5(BMP1):c.1407G>A (p.Glu469=)	BMP1, LOC113788269	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3014755	NM_006129.5(BMP1):c.2226C>T (p.Cys742=)	BMP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3012280	NM_001199.4(BMP1):c.2160C>T (p.Phe720=)	BMP1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3012079	NM_006129.5(BMP1):c.2575+8C>A	BMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010663	NM_006129.5(BMP1):c.2575+11C>A	BMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009645	NM_006129.5(BMP1):c.2382C>T (p.Ile794=)	BMP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3009364	NM_006129.5(BMP1):c.2328C>A (p.Ala776=)	BMP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3008690	NM_001199.4(BMP1):c.2175A>G (p.Arg725=)	BMP1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3007988	NM_006129.5(BMP1):c.1444-20G>A	BMP1, LOC113788269	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007539	NM_006129.5(BMP1):c.1833C>T (p.Tyr611=)	BMP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3007229	NM_006129.5(BMP1):c.1947G>T (p.Val649=)	BMP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3006667	NM_006129.5(BMP1):c.2701G>A (p.Gly901Ser)	BMP1 (G901S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3006362	NM_001199.4(BMP1):c.2123T>G (p.Leu708Arg)	BMP1 (L708R)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 3006245	NM_006129.5(BMP1):c.1647C>T (p.Asp549=)	BMP1, LOC113788269	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3005374	NM_006129.5(BMP1):c.36G>T (p.Gly12=)	BMP1, LOC129999976	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3004772	NM_001199.4(BMP1):c.2110_2111del (p.Lys704fs)	BMP1 (K704fs)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 3004748	NM_006129.5(BMP1):c.2667C>T (p.Asp889=)	BMP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3004491	NM_006129.5(BMP1):c.879C>A (p.Asn293Lys)	BMP1 (N293K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3003952	NM_006129.5(BMP1):c.1257C>T (p.Ser419=)	BMP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3003710	NM_006129.5(BMP1):c.2880G>C (p.Ser960=)	BMP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3003688	NM_006129.5(BMP1):c.2361+20C>A	BMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003541	NM_006129.5(BMP1):c.549C>A (p.Cys183Ter)	BMP1 (C183*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 3002857	NM_006129.5(BMP1):c.2445C>A (p.Ala815=)	BMP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3001516	NM_006129.5(BMP1):c.177C>T (p.Asp59=)	BMP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3001289	NM_006129.5(BMP1):c.1683G>A (p.Gln561=)	BMP1, LOC113788269	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3001096	NM_006129.5(BMP1):c.2919C>T (p.Tyr973=)	BMP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3000894	NM_006129.5(BMP1):c.836+10G>A	BMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000549	NM_006129.5(BMP1):c.2575+19G>T	BMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000243	NM_006129.5(BMP1):c.148+13del	BMP1, LOC129999976	Deletion (intron variant)	not provided	GBenign
Select item 3000233	NM_006129.5(BMP1):c.1314T>C (p.Asp438=)	BMP1, LOC113788269	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3000140	NM_006129.5(BMP1):c.369G>T (p.Thr123=)	BMP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2999978	NM_006129.5(BMP1):c.2233+1G>C	BMP1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2999854	NM_006129.5(BMP1):c.2199C>T (p.Phe733=)	BMP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2999727	NM_006129.5(BMP1):c.348C>T (p.Ser116=)	BMP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2998940	NM_006129.5(BMP1):c.681G>A (p.Arg227=)	BMP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2998800	NM_006129.5(BMP1):c.2691G>A (p.Glu897=)	BMP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2998460	NM_006129.5(BMP1):c.2148G>A (p.Gln716=)	BMP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2998255	NM_006129.5(BMP1):c.2108-702TC[4]	BMP1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2998166	NM_006129.5(BMP1):c.285C>A (p.Pro95=)	BMP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2997344	NM_006129.5(BMP1):c.2562C>T (p.Ala854=)	BMP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2996603	NM_006129.5(BMP1):c.1698C>T (p.Thr566=)	BMP1, LOC113788269	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2995828	NM_006129.5(BMP1):c.1444-9G>A	BMP1, LOC113788269	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995296	NM_006129.5(BMP1):c.262+12G>T	BMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994972	NM_006129.5(BMP1):c.1077+17C>G	BMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994829	NM_006129.5(BMP1):c.2514C>T (p.Phe838=)	BMP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2994087	NM_006129.5(BMP1):c.148+14G>A	BMP1, LOC129999976	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993867	NM_006129.5(BMP1):c.1722T>C (p.Cys574=)	BMP1, LOC113788269	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2993724	NM_006129.5(BMP1):c.60C>A (p.Gly20=)	BMP1, LOC129999976	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2993707	NM_006129.5(BMP1):c.1692C>T (p.Leu564=)	BMP1, LOC113788269	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2993578	NM_006129.5(BMP1):c.2568C>T (p.His856=)	BMP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2993204	NM_006129.5(BMP1):c.148+16C>T	BMP1, LOC129999976	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991946	NM_006129.5(BMP1):c.1425C>T (p.Leu475=)	LOC113788269, BMP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2991504	NM_006129.5(BMP1):c.2601C>T (p.Asp867=)	BMP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2990644	NM_006129.5(BMP1):c.433+7G>C	BMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990468	NM_006129.5(BMP1):c.1440T>C (p.Phe480=)	BMP1, LOC113788269	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2990283	NM_006129.5(BMP1):c.1917G>A (p.Glu639=)	BMP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2990230	NM_006129.5(BMP1):c.771G>A (p.Val257=)	BMP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2989427	NM_006129.5(BMP1):c.1980G>A (p.Lys660=)	BMP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2989425	NM_006129.5(BMP1):c.1180+18C>T	BMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988999	NM_006129.5(BMP1):c.1977C>T (p.Ser659=)	BMP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2988174	NM_006129.5(BMP1):c.1455C>T (p.His485=)	BMP1, LOC113788269	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2987540	NM_006129.5(BMP1):c.1A>G (p.Met1Val)	BMP1, LOC129999976 (M1V)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic

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