BMP1[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 999

<< First< Prev

Page of 10

	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 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	LOC129999937, LOC129999938 +3658 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC129999850, LOC129999851 +1038 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	LOC126860345, LOC126860346 +1103 more	Copy number gain	See cases	GPathogenic
Select item 146718	GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3	AGPAT5, ANGPT2 +687 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	PKHD1L1, PKIA +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC126860501, LOC126860502 +3652 more	Copy number gain	See cases	GPathogenic
Select item 149882	GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	LOC130000150, LOC130000151 +996 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	MIR7705, MIR7848 +3656 more	Copy number gain	See cases	GPathogenic
Select item 146786	GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3	ADAM28, ADAM7 +736 more	Copy number gain	See cases	GPathogenic
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	DMTN, DOK2 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 161037	GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	MIR4660, MIR548H4 +773 more	Copy number loss	See cases	GPathogenic
Select item 32400	GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1	ADAM28, ADAM7 +773 more	Copy number loss	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	DUSP4, EBF2 +1018 more	Copy number gain	See cases	GPathogenic
Select item 150733	GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3	ADAM28, ADAM7 +694 more	Copy number gain	See cases	GPathogenic
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	ADAM18, ADAM2 +935 more	Copy number gain	See cases	GPathogenic
Select item 149191	GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3	ADAM28, ADAM7 +499 more	Copy number gain	See cases	GPathogenic
Select item 154449	GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1	LOC132089588, LOC132089589 +510 more	Copy number loss	See cases	GPathogenic
Select item 146257	GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	LOC130000086, LOC130000087 +932 more	Copy number gain	See cases	GPathogenic
Select item 57442	GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3	ADAM28, ADAM7 +663 more	Copy number gain	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC121331299, LOC121331300 +868 more	Copy number gain	See cases	GPathogenic
Select item 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	ADAM18, ADAM2 +927 more	Copy number gain	See cases	GPathogenic
Select item 59764	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	LOC130000305, LOC130000306 +927 more	Copy number gain	See cases	GPathogenic
Select item 59763	GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3	ADAM28, ADAM7 +703 more	Copy number gain	See cases	GPathogenic
Select item 34276	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC130000069, LOC130000070 +868 more	Copy number gain	See cases	GPathogenic
Select item 155441	GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	ADAM18, ADAM2 +816 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC130000275, LOC130000276 +927 more	Copy number gain	See cases	GPathogenic
Select item 148997	GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3	ADAM28, ADAM7 +651 more	Copy number gain	See cases	GPathogenic
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 147664	GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3	ADAM28, ADAM7 +567 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC101929258, LOC101929470 +920 more	Copy number gain	See cases	GPathogenic
Select item 147303	GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3	LOC113788273, LOC113788274 +805 more	Copy number gain	See cases	GPathogenic
Select item 57410	GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3	LOC129999948, LOC129999949 +855 more	Copy number gain	See cases	GPathogenic
Select item 32941	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	ADAM18, ADAM2 +920 more	Copy number gain	See cases	GPathogenic
Select item 150985	GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3	LOC130000249, LOC130000250 +789 more	Copy number gain	See cases	GPathogenic
Select item 59767	GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3	ADAM28, ADAM7 +523 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	TNFRSF10A, TNFRSF10A-DT +920 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	ADAM18, ADAM2 +898 more	Copy number gain	See cases	GPathogenic
Select item 154680	GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1	ADAM28, ADAM7 +532 more	Copy number loss	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC130000156, LOC130000157 +3106 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	BMP1, SFTPC	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 165209	NM_001317778.2(SFTPC):c.201+14G>A	BMP1, SFTPC	Single nucleotide variant (intron variant)	Osteogenesis Imperfecta, Recessive +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)	Pulmonary Surfactant Metabolism Dysfunction, Dominant +6 more	GBenign/Likely benign
Select item 165211	NM_001317778.2(SFTPC):c.436-26C>G	BMP1, SFTPC	Single nucleotide variant (intron variant)	Osteogenesis Imperfecta, Recessive +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)	Pulmonary Surfactant Metabolism Dysfunction, Dominant +6 more	GBenign
Select item 362567	NM_001317778.2(SFTPC):c.*36A>G	BMP1, SFTPC	Single nucleotide variant (3 prime UTR variant)	Pulmonary Surfactant Metabolism Dysfunction, Dominant +3 more	GBenign/Likely benign
Select item 362568	NM_001317778.2(SFTPC):c.*123G>A	BMP1, SFTPC	Single nucleotide variant (3 prime UTR variant)	Pulmonary Surfactant Metabolism Dysfunction, Dominant +3 more	GBenign
Select item 362569	NM_001317778.2(SFTPC):c.*173C>T	BMP1, SFTPC	Single nucleotide variant (3 prime UTR variant)	Pulmonary Surfactant Metabolism Dysfunction, Dominant +3 more	GBenign/Likely benign
Select item 362570	NM_001317778.2(SFTPC):c.*174G>A	BMP1, SFTPC	Single nucleotide variant (3 prime UTR variant)	Pulmonary Surfactant Metabolism Dysfunction, Dominant +3 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_001199.3(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	Interstitial lung disease 2 +3 more	GBenign
Select item 362574	NM_006129.4(BMP1):c.-126G>A	BMP1, LOC129999976 +1 more	Single nucleotide variant	Surfactant metabolism dysfunction, pulmonary, 2 +2 more	GUncertain significance
Select item 362575	NM_006129.5(BMP1):c.-15C>G	BMP1, LOC129999976 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Pulmonary Surfactant Metabolism Dysfunction, Dominant +4 more	GBenign/Likely 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
Select item 1433797	NM_006129.5(BMP1):c.2T>C (p.Met1Thr)	BMP1, LOC129999976 (M1T)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 2807564	NM_006129.5(BMP1):c.6C>G (p.Pro2=)	BMP1, LOC129999976	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2070218	NM_006129.5(BMP1):c.7G>C (p.Gly3Arg)	BMP1, LOC129999976 (G3R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2091830	NM_006129.5(BMP1):c.9C>T (p.Gly3=)	BMP1, LOC129999976	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2980022	NM_006129.5(BMP1):c.21G>C (p.Leu7=)	BMP1, LOC129999976	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2860285	NM_006129.5(BMP1):c.30G>A (p.Leu10=)	BMP1, LOC129999976	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely 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 37307	NM_006129.5(BMP1):c.34G>C (p.Gly12Arg)	BMP1, LOC129999976 (G12R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
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 2889505	NM_006129.5(BMP1):c.36G>A (p.Gly12=)	BMP1, LOC129999976	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2822935	NM_006129.5(BMP1):c.48C>A (p.Leu16=)	BMP1, LOC129999976	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1702087	NM_006129.5(BMP1):c.49C>T (p.Pro17Ser)	BMP1, LOC129999976 (P17S)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta	GUncertain significance
Select item 2755299	NM_006129.5(BMP1):c.51G>T (p.Pro17=)	BMP1, LOC129999976	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1638515	NM_006129.5(BMP1):c.57C>G (p.Pro19=)	BMP1, LOC129999976	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 2892224	NM_006129.5(BMP1):c.61C>A (p.Arg21=)	BMP1, LOC129999976	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2807837	NM_006129.5(BMP1):c.78C>G (p.Ala26=)	BMP1, LOC129999976	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2779669	NM_006129.5(BMP1):c.78C>T (p.Ala26=)	BMP1, LOC129999976	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2779283	NM_006129.5(BMP1):c.96G>T (p.Leu32=)	BMP1, LOC129999976	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2700600	NM_006129.5(BMP1):c.96G>A (p.Leu32=)	BMP1, LOC129999976	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1550993	NM_006129.5(BMP1):c.108C>T (p.Asp36=)	BMP1, LOC129999976	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1901204	NM_006129.5(BMP1):c.109G>A (p.Asp37Asn)	BMP1, LOC129999976 (D37N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2800827	NM_006129.5(BMP1):c.114G>A (p.Ser38=)	BMP1, LOC129999976	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2978261	NM_006129.5(BMP1):c.120C>T (p.Pro40=)	BMP1, LOC129999976	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2178679	NM_006129.5(BMP1):c.126C>T (p.Asn42=)	BMP1, LOC129999976	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1911784	NM_006129.5(BMP1):c.148G>A (p.Ala50Thr)	BMP1, LOC129999976 (A50T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2073207	NM_006129.5(BMP1):c.148+7GCCCCCCG[3]	BMP1, LOC129999976	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2868098	NM_006129.5(BMP1):c.148+13dup	BMP1, LOC129999976	Duplication (intron variant)	not provided	GBenign
Select item 3000243	NM_006129.5(BMP1):c.148+13del	BMP1, LOC129999976	Deletion (intron variant)	not provided	GBenign
Select item 750383	NM_006129.5(BMP1):c.148+8C>T	BMP1, LOC129999976	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965521	NM_006129.5(BMP1):c.148+13C>T	BMP1, LOC129999976	Single nucleotide variant (intron variant)	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 1995544	NM_006129.5(BMP1):c.148+15G>A	BMP1, LOC129999976	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1914037	NM_006129.5(BMP1):c.148+21dup	BMP1, LOC129999976	Duplication (intron variant)	not provided	GBenign
Select item 2993204	NM_006129.5(BMP1):c.148+16C>T	BMP1, LOC129999976	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971040	NM_006129.5(BMP1):c.148+21del	BMP1, LOC129999976	Deletion (intron variant)	not provided	GBenign

<< First< Prev

Page of 10