"Ambry Genetics"[submitter] AND "BMP1"[gene] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 165210	NM_001317778.2(SFTPC):c.413C>A (p.Thr138Asn)	BMP1, SFTPC (T138N +1 more)	Single nucleotide variant (missense variant)	Pulmonary Surfactant Metabolism Dysfunction, Dominant +6 more	GBenign/Likely benign
Select item 165212	NM_001317778.2(SFTPC):c.539G>A (p.Ser180Asn)	BMP1, SFTPC (S186N +2 more)	Single nucleotide variant (missense variant)	Pulmonary Surfactant Metabolism Dysfunction, Dominant +6 more	GBenign
Select item 1478749	NM_006129.5(BMP1):c.23C>G (p.Pro8Arg)	LOC129999976, BMP1 (P8R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1506549	NM_006129.5(BMP1):c.86C>A (p.Thr29Asn)	BMP1, LOC129999976 (T29N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2551379	NM_006129.5(BMP1):c.109G>T (p.Asp37Tyr)	BMP1, LOC129999976 (D37Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2207043	NM_006129.5(BMP1):c.119C>T (p.Pro40Leu)	BMP1, LOC129999976 (P40L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1940108	NM_006129.5(BMP1):c.238C>T (p.Arg80Cys)	BMP1 (R80C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1218697	NM_006129.5(BMP1):c.239G>A (p.Arg80His)	BMP1 (R80H)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
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 2302288	NM_006129.5(BMP1):c.311C>G (p.Pro104Arg)	BMP1 (P104R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 362578	NM_006129.5(BMP1):c.421G>A (p.Gly141Arg)	BMP1 (G141R)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 13 +1 more	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 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 1351146	NM_006129.5(BMP1):c.799G>A (p.Asp267Asn)	BMP1 (D267N)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 13 +2 more	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 2214847	NM_006129.5(BMP1):c.984C>A (p.Asp328Glu)	BMP1 (D328E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 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 2301445	NM_006129.5(BMP1):c.1036A>T (p.Met346Leu)	BMP1 (M346L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 595154	NM_006129.5(BMP1):c.1045G>A (p.Val349Met)	BMP1 (V349M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2532828	NM_006129.5(BMP1):c.1051C>T (p.Arg351Cys)	BMP1 (R351C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1898788	NM_006129.5(BMP1):c.1184G>A (p.Arg395His)	BMP1 (R395H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1382567	NM_006129.5(BMP1):c.1289T>G (p.Val430Gly)	BMP1 (V430G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	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 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 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 2471743	NM_006129.5(BMP1):c.1390C>T (p.Arg464Trp)	BMP1, LOC113788269 (R464W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2161791	NM_006129.5(BMP1):c.1456G>A (p.Asp486Asn)	BMP1, LOC113788269 (D486N)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1412568	NM_006129.5(BMP1):c.1489G>A (p.Asp497Asn)	BMP1, LOC113788269 (D497N)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1420391	NM_006129.5(BMP1):c.1523G>A (p.Arg508His)	BMP1, LOC113788269 (R508H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2235963	NM_006129.5(BMP1):c.1535A>G (p.Tyr512Cys)	BMP1, LOC113788269 (Y512C)	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 2543990	NM_006129.5(BMP1):c.1657C>T (p.Arg553Trp)	BMP1, LOC113788269 (R553W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2310251	NM_006129.5(BMP1):c.1669G>A (p.Gly557Arg)	BMP1, LOC113788269 (G557R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2332293	NM_006129.5(BMP1):c.1676G>C (p.Cys559Ser)	BMP1, LOC113788269 (C559S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2613279	NM_006129.5(BMP1):c.1702G>A (p.Gly568Ser)	BMP1, LOC113788269 (G568S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2600180	NM_006129.5(BMP1):c.1756C>T (p.Arg586Cys)	BMP1, LOC113788269 (R586C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2476904	NM_006129.5(BMP1):c.1777G>A (p.Gly593Arg)	BMP1 (G593R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 910374	NM_006129.5(BMP1):c.1804A>G (p.Ile602Val)	BMP1 (I602V)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 13 +2 more	GConflicting classifications of pathogenicity
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 2328409	NM_006129.5(BMP1):c.1882C>T (p.Arg628Cys)	BMP1 (R628C)	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 2229847	NM_006129.5(BMP1):c.1969G>A (p.Ala657Thr)	BMP1 (A657T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2241682	NM_006129.5(BMP1):c.2077A>G (p.Lys693Glu)	BMP1 (K693E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	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 1374937	NM_006129.5(BMP1):c.2189G>T (p.Arg730Leu)	BMP1 (R730L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	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 2568159	NM_006129.5(BMP1):c.2383G>C (p.Glu795Gln)	BMP1 (E795Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2617057	NM_006129.5(BMP1):c.2409C>G (p.Asp803Glu)	BMP1 (D803E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2070155	NM_006129.5(BMP1):c.2432G>A (p.Arg811Gln)	BMP1 (R811Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1385566	NM_006129.5(BMP1):c.2446C>G (p.Pro816Ala)	BMP1 (P816A)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 1385920	NM_006129.5(BMP1):c.2455G>A (p.Gly819Ser)	BMP1 (G819S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 753443	NM_006129.5(BMP1):c.2488G>A (p.Val830Ile)	BMP1 (V830I)	Single nucleotide variant (missense variant +1 more)	BMP1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 2622682	NM_006129.5(BMP1):c.2507G>A (p.Arg836His)	BMP1 (R836H)	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 1346595	NM_006129.5(BMP1):c.2519G>A (p.Arg840His)	BMP1 (R840H)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 13 +2 more	GUncertain significance
Select item 2207884	NM_006129.5(BMP1):c.2569G>A (p.Ala857Thr)	BMP1 (A857T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 362600	NM_006129.5(BMP1):c.2594G>A (p.Arg865Gln)	BMP1 (R865Q)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 13 +2 more	GUncertain significance
Select item 2307446	NM_006129.5(BMP1):c.2704G>A (p.Val902Met)	BMP1 (V902M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1440920	NM_006129.5(BMP1):c.2809C>T (p.Arg937Cys)	BMP1 (R937C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	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

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Items: 62