"GeneDx"[submitter] AND "BMP1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59735	GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	ADAM28, ADAM7 +979 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC130000099, LOC130000100 +1040 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	LOC130000309, LOC130000310 +900 more	Copy number gain	See cases	GPathogenic
Select item 59770	GRCh38/hg38 8p21.3(chr8:21654619-23001935)x3	BIN3, BIN3-IT1 +119 more	Copy number gain	See cases	GPathogenic
Select item 362544	NM_003018.3(SFTPC):c.-134G>C	SFTPC, BMP1	Single nucleotide variant (intron variant)	Surfactant metabolism dysfunction, pulmonary, 2 +4 more	GBenign/Likely benign
Select item 165209	NM_001317778.2(SFTPC):c.201+14G>A	BMP1, SFTPC	Single nucleotide variant (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 165210	NM_001317778.2(SFTPC):c.413C>A (p.Thr138Asn)	BMP1, SFTPC (T138N +1 more)	Single nucleotide variant (missense variant)	Surfactant metabolism dysfunction, pulmonary, 2 +6 more	GBenign/Likely benign
Select item 165211	NM_001317778.2(SFTPC):c.436-26C>G	BMP1, SFTPC	Single nucleotide variant (intron variant)	not specified +5 more	GBenign
Select item 165212	NM_001317778.2(SFTPC):c.539G>A (p.Ser180Asn)	BMP1, SFTPC (S186N +2 more)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign
Select item 1207027	NC_000008.11:g.22164957CGGCCCG[2]	BMP1, LOC129999976	Microsatellite	not provided	GLikely benign
Select item 1187333	NC_000008.11:g.22165068C>G	BMP1, LOC129999976	Single nucleotide variant	not provided	GLikely benign
Select item 1221046	NC_000008.11:g.22165138dup	BMP1, LOC129999976	Duplication	not provided	GBenign
Select item 369604	NM_006129.4(BMP1):c.-277delG	BMP1, LOC129999976 +1 more	Deletion	Interstitial lung disease 2 +3 more	GBenign
Select item 362572	NM_006129.4(BMP1):c.-263_-260GGAG[4]	BMP1, LOC129999976	Microsatellite	not provided +1 more	GConflicting classifications of pathogenicity
Select item 362573	NM_006129.4(BMP1):c.-170A>G	LOC129999976, SFTPC +1 more	Single nucleotide variant	not provided +3 more	GBenign
Select item 362575	NM_006129.5(BMP1):c.-15C>G	BMP1, LOC129999976 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +5 more	GBenign/Likely benign
Select item 512914	NM_006129.5(BMP1):c.33C>T (p.Leu11=)	BMP1, LOC129999976	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 1217554	NM_006129.5(BMP1):c.149-165G>A	BMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1272398	NM_006129.5(BMP1):c.149-146T>C	BMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1313447	NM_006129.5(BMP1):c.210G>T (p.Gln70His)	BMP1 (Q70H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1218697	NM_006129.5(BMP1):c.239G>A (p.Arg80His)	BMP1 (R80H)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta +3 more	GConflicting classifications of pathogenicity
Select item 1234845	NM_006129.5(BMP1):c.263-221C>A	BMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224992	NM_006129.5(BMP1):c.263-41C>G	BMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1327763	NM_006129.5(BMP1):c.310C>T (p.Pro104Ser)	BMP1 (P104S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 593367	NM_006129.5(BMP1):c.416T>C (p.Ile139Thr)	BMP1 (I139T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1283249	NM_006129.5(BMP1):c.434-87C>T	BMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286593	NM_006129.5(BMP1):c.551+146C>T	BMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247160	NM_006129.5(BMP1):c.552-77G>A	BMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211201	NM_006129.5(BMP1):c.731-306C>T	BMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1239756	NM_006129.5(BMP1):c.731-112dup	BMP1	Duplication (intron variant)	not provided	GBenign
Select item 1207153	NM_006129.5(BMP1):c.731-25C>A	BMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1906616	NM_006129.5(BMP1):c.809T>C (p.Met270Thr)	BMP1 (M270T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1203205	NM_006129.5(BMP1):c.836+115C>T	BMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198455	NM_006129.5(BMP1):c.837-229G>A	BMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1175430	NM_006129.5(BMP1):c.837-53C>G	BMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 716388	NM_006129.5(BMP1):c.879C>T (p.Asn293=)	BMP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1207850	NM_006129.5(BMP1):c.962-175G>A	BMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 680908	NM_006129.5(BMP1):c.962-172A>G	BMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290202	NM_006129.5(BMP1):c.962-145T>C	BMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202328	NM_006129.5(BMP1):c.962-37G>A	BMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1174208	NM_006129.5(BMP1):c.1077+134G>A	BMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258733	NM_006129.5(BMP1):c.1077+144C>T	BMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680492	NM_006129.5(BMP1):c.1077+148G>C	BMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225857	NM_006129.5(BMP1):c.1077+247A>G	BMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196014	NM_006129.5(BMP1):c.1077+261G>A	BMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1241137	NM_006129.5(BMP1):c.1078-221C>T	BMP1, LOC126860323	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191393	NM_006129.5(BMP1):c.1078-186G>C	BMP1, LOC126860323	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1228876	NM_006129.5(BMP1):c.1078-101G>T	BMP1, LOC126860323	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204218	NM_006129.5(BMP1):c.1078-37G>A	BMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 362580	NM_006129.5(BMP1):c.1112G>A (p.Arg371His)	BMP1 (R371H)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 597742	NM_006129.5(BMP1):c.1170G>T (p.Ala390=)	BMP1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 734905	NM_006129.5(BMP1):c.1180+5C>T	BMP1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1230193	NM_006129.5(BMP1):c.1180+109A>T	BMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675112	NM_006129.5(BMP1):c.1180+116A>G	BMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680904	NM_006129.5(BMP1):c.1180+176A>T	BMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680905	NM_006129.5(BMP1):c.1180+228A>G	BMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214330	NM_006129.5(BMP1):c.1180+327T>C	BMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 680906	NM_006129.5(BMP1):c.1181-325A>G	BMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200772	NM_006129.5(BMP1):c.1181-319G>A	BMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203046	NM_006129.5(BMP1):c.1181-292A>G	BMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1227550	NM_006129.5(BMP1):c.1181-290A>C	BMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680994	NM_006129.5(BMP1):c.1181-235C>T	BMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682111	NM_006129.5(BMP1):c.1263T>C (p.Asn421=)	BMP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1286684	NM_006129.5(BMP1):c.1298-109A>C	BMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 362583	NM_006129.5(BMP1):c.1443+12G>C	BMP1, LOC113788269	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1215508	NM_006129.5(BMP1):c.1443+39C>T	BMP1, LOC113788269	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1308132	NM_006129.5(BMP1):c.1466C>T (p.Ala489Val)	BMP1, LOC113788269 (A489V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1420391	NM_006129.5(BMP1):c.1523G>A (p.Arg508His)	BMP1, LOC113788269 (R508H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 362585	NM_006129.5(BMP1):c.1623C>T (p.Ala541=)	BMP1, LOC113788269	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1199532	NM_006129.5(BMP1):c.1639+226T>G	BMP1, LOC113788269	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207960	NM_006129.5(BMP1):c.1640-161G>C	BMP1, LOC113788269	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203114	NM_006129.5(BMP1):c.1640-92G>A	BMP1, LOC113788269	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266658	NM_006129.5(BMP1):c.1640-81C>T	BMP1, LOC113788269	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 909425	NM_006129.5(BMP1):c.1678G>A (p.Glu560Lys)	BMP1, LOC113788269 (E560K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1303885	NM_006129.5(BMP1):c.1753C>T (p.Arg585Cys)	BMP1, LOC113788269 (R585C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 674968	NM_006129.5(BMP1):c.1765+23T>C	BMP1, LOC113788269	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 681017	NM_006129.5(BMP1):c.1765+204T>C	BMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213545	NM_006129.5(BMP1):c.1766-271A>G	BMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 362588	NM_006129.5(BMP1):c.1766-5C>T	BMP1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 362589	NM_006129.5(BMP1):c.1770T>C (p.Ala590=)	BMP1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 2375031	NM_006129.5(BMP1):c.1825A>C (p.Lys609Gln)	BMP1 (K609Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1331206	NM_006129.5(BMP1):c.1838C>A (p.Pro613His)	BMP1 (P613H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1235684	NM_006129.5(BMP1):c.1926+88G>T	BMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276402	NM_006129.5(BMP1):c.1926+93C>T	BMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293836	NM_006129.5(BMP1):c.1926+159C>A	BMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1303812	NM_006129.5(BMP1):c.1939G>A (p.Asp647Asn)	BMP1 (D647N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1310984	NM_006129.5(BMP1):c.1954C>T (p.Arg652Cys)	BMP1 (R652C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 362590	NM_006129.5(BMP1):c.2075C>T (p.Ser692Phe)	BMP1 (S692F)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 1260148	NM_006129.5(BMP1):c.2107+41G>A	BMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230084	NM_006129.5(BMP1):c.2108-910C>A	BMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 488762	NM_001199.4(BMP1):c.2161C>T (p.Arg721Ter)	BMP1 (R721*)	Single nucleotide variant (nonsense +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 1231106	NM_006129.5(BMP1):c.2108-412G>A	BMP1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 1178470	NM_006129.5(BMP1):c.2108-26G>A	BMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 362591	NM_006129.5(BMP1):c.2115C>T (p.Asp705=)	BMP1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 498501	NM_006129.5(BMP1):c.2134G>A (p.Gly712Ser)	BMP1 (G712S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 716959	NM_006129.5(BMP1):c.2154C>T (p.Cys718=)	BMP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 362592	NM_006129.5(BMP1):c.2155G>A (p.Val719Ile)	BMP1 (V719I)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 362593	NM_006129.5(BMP1):c.2205C>G (p.Leu735=)	BMP1	Single nucleotide variant (synonymous variant +1 more)	Osteogenesis imperfecta +3 more	GBenign
Select item 675091	NM_006129.5(BMP1):c.2233+79A>G	BMP1	Single nucleotide variant (intron variant)	not provided	GBenign

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