ClinVar for Gene (Select 650) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248325	NC_000020.10:g.(?_6758872)_(6760201_?)dup	BMP2	Duplication	not provided	GUncertain significance
Select item 3248324	NC_000020.10:g.(?_6758872)_(6760201_?)del	BMP2	Deletion	not provided	GPathogenic
Select item 3248323	NC_000020.10:g.(?_6302016)_(7096518_?)del	BMP2	Deletion	not provided	GPathogenic
Select item 3248273	NC_000020.10:g.(?_3190198)_(6760201_?)del	FERMT1, ATRN +35 more	Deletion	Inosine triphosphatase deficiency	GPathogenic
Select item 3134517	NM_001200.4(BMP2):c.517A>G (p.Ile173Val)	BMP2 (I173V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3134516	NM_001200.4(BMP2):c.496A>G (p.Ser166Gly)	BMP2 (S166G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3134515	NM_001200.4(BMP2):c.302G>A (p.Arg101Lys)	BMP2 (R101K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3134514	NM_001200.4(BMP2):c.197G>A (p.Arg66Lys)	BMP2 (R66K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065565	NM_001200.4(BMP2):c.231del (p.Tyr78fs)	BMP2 (Y78fs)	Deletion (frameshift variant)	Type A2 brachydactyly	GUncertain significance
Select item 3062408	GRCh37/hg19 20p12.3(chr20:6296284-7092386)x1	BMP2	Copy number loss	not specified	GPathogenic
Select item 3049021	NM_001200.4(BMP2):c.1074G>C (p.Lys358Asn)	BMP2 (K358N)	Single nucleotide variant (missense variant)	BMP2-related disorder	GUncertain significance
Select item 3047413	NM_001200.4(BMP2):c.72C>T (p.Leu24=)	BMP2	Single nucleotide variant (synonymous variant)	BMP2-related disorder	GLikely benign
Select item 3029839	NM_001200.4(BMP2):c.326del (p.Val109fs)	BMP2 (V109fs)	Deletion (frameshift variant)	BMP2-related disorder	GLikely pathogenic
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	CSTL1, DDRGK1 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	ADAM33, ADISSP +114 more	Copy number gain	not provided	GPathogenic
Select item 3018964	NM_001200.4(BMP2):c.672T>C (p.His224=)	BMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996972	NM_001200.4(BMP2):c.346+5G>A	BMP2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2981837	NM_001200.4(BMP2):c.247T>C (p.Tyr83His)	BMP2 (Y83H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2912831	NM_001200.4(BMP2):c.1125C>T (p.Asp375=)	BMP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2909821	NM_001200.4(BMP2):c.179T>C (p.Met60Thr)	BMP2 (M60T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2903762	NM_001200.4(BMP2):c.326T>C (p.Val109Ala)	BMP2 (V109A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2901659	NM_001200.4(BMP2):c.805C>T (p.His269Tyr)	BMP2 (H269Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2901575	NM_001200.4(BMP2):c.477T>C (p.Asp159=)	BMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2894511	NM_001200.4(BMP2):c.461G>A (p.Arg154Gln)	BMP2 (R154Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2887117	NM_001200.4(BMP2):c.177C>A (p.Ser59Arg)	BMP2 (S59R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2885188	NM_001200.4(BMP2):c.865C>T (p.Arg289Trp)	BMP2 (R289W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2876851	NM_001200.4(BMP2):c.241G>A (p.Asp81Asn)	BMP2 (D81N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2852875	NM_001200.4(BMP2):c.133C>A (p.Pro45Thr)	BMP2 (P45T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2809346	NM_001200.4(BMP2):c.834_835del (p.Glu280fs)	BMP2 (E280fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2806712	NM_001200.4(BMP2):c.795A>T (p.Val265=)	BMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2806490	NM_001200.4(BMP2):c.337C>T (p.His113Tyr)	BMP2 (H113Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2792147	NM_001200.4(BMP2):c.386C>T (p.Thr129Ile)	BMP2 (T129I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2781045	NM_001200.4(BMP2):c.64G>A (p.Ala22Thr)	BMP2 (A22T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2771615	NM_001200.4(BMP2):c.290A>G (p.His97Arg)	BMP2 (H97R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2702158	NM_001200.4(BMP2):c.280G>A (p.Ala94Thr)	BMP2 (A94T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688671	NM_001200.4(BMP2):c.307G>A (p.Ala103Thr)	BMP2 (A103T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684899	GRCh37/hg19 20p13-12.2(chr20:61569-9542361)x3	ADAM33, ADISSP +100 more	Copy number gain	not provided	GPathogenic
Select item 2672874	NM_001200.4(BMP2):c.963C>T (p.His321=)	BMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2636252	NM_001200.4(BMP2):c.1026dup (p.Ala343fs)	BMP2 (A343fs)	Duplication (frameshift variant)	BMP2-related disorder	GLikely pathogenic
Select item 2584624	GRCh38/hg38 20p12.3(chr20:6773385-6822115)	BMP2	Copy number gain	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1	GUncertain significance
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 2574129	NM_001200.4(BMP2):c.982G>A (p.Glu328Lys)	BMP2 (E328K)	Single nucleotide variant (missense variant)	Ventricular septal defect 1	GPathogenic
Select item 2573988	NM_001200.4(BMP2):c.231dup (p.Tyr78fs)	BMP2 (Y78fs)	Duplication (frameshift variant)	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 +1 more	GPathogenic
Select item 2557323	NM_001200.4(BMP2):c.1054G>T (p.Val352Phe)	BMP2 (V352F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542837	NM_001200.4(BMP2):c.130C>G (p.Gln44Glu)	BMP2 (Q44E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506485	NM_001200.4(BMP2):c.405_409del (p.Asn135fs)	BMP2 (N135fs)	Microsatellite (frameshift variant)	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1	GLikely pathogenic
Select item 2500479	NM_001200.4(BMP2):c.632C>G (p.Pro211Arg)	BMP2 (P211R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2489688	NM_001200.4(BMP2):c.682G>T (p.Val228Leu)	BMP2 (V228L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481275	NM_001200.4(BMP2):c.787T>A (p.Leu263Met)	BMP2 (L263M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2439532	NM_001200.4(BMP2):c.788T>C (p.Leu263Ser)	BMP2 (L263S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2439531	NM_001200.4(BMP2):c.816A>C (p.Lys272Asn)	BMP2 (K272N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439530	NM_001200.4(BMP2):c.316G>A (p.Ala106Thr)	BMP2 (A106T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2431356	NM_001200.4(BMP2):c.275C>A (p.Ser92Ter)	BMP2 (S92*)	Single nucleotide variant (nonsense)	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1	GLikely pathogenic
Select item 2422855	NC_000020.10:g.(?_1959939)_(6760201_?)dup	ADAM33, ADISSP +60 more	Duplication	Pigmentary pallidal degeneration +1 more	GUncertain significance
Select item 2421743	NM_001200.4(BMP2):c.100G>C (p.Ala34Pro)	BMP2 (A34P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2388682	NM_001200.4(BMP2):c.175A>G (p.Ser59Gly)	BMP2 (S59G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361086	NM_001200.4(BMP2):c.136T>A (p.Ser46Thr)	BMP2 (S46T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2205596	NM_001200.4(BMP2):c.1030A>G (p.Ile344Val)	BMP2 (I344V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2203039	NM_001200.4(BMP2):c.786A>G (p.Pro262=)	BMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2183708	NM_001200.4(BMP2):c.845G>A (p.Arg282His)	BMP2 (R282H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2183444	NM_001200.4(BMP2):c.539C>T (p.Ala180Val)	BMP2 (A180V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2176939	NM_001200.4(BMP2):c.954G>A (p.Pro318=)	BMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2176206	NM_001200.4(BMP2):c.556T>C (p.Phe186Leu)	BMP2 (F186L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2160643	NM_001200.4(BMP2):c.906C>T (p.Tyr302=)	BMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2128172	NM_001200.4(BMP2):c.705G>C (p.Glu235Asp)	BMP2 (E235D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2127008	NM_001200.4(BMP2):c.613G>T (p.Glu205Ter)	BMP2 (E205*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2101187	NM_001200.4(BMP2):c.314G>A (p.Arg105Gln)	BMP2 (R105Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2100457	NM_001200.4(BMP2):c.229C>T (p.Pro77Ser)	BMP2 (P77S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2091426	NM_001200.4(BMP2):c.420C>T (p.Pro140=)	BMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2087633	NM_001200.4(BMP2):c.685G>T (p.Glu229Ter)	BMP2 (E229*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2067259	NM_001200.4(BMP2):c.431T>C (p.Phe144Ser)	BMP2 (F144S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2041336	NM_001200.4(BMP2):c.895C>A (p.His299Asn)	BMP2 (H299N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2034086	NM_001200.4(BMP2):c.687A>G (p.Glu229=)	BMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2004818	NM_001200.4(BMP2):c.346+4A>G	BMP2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1992867	NM_001200.4(BMP2):c.925G>A (p.Gly309Arg)	BMP2 (G309R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1985152	NM_001200.4(BMP2):c.979G>A (p.Gly327Arg)	BMP2 (G327R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1981986	NM_001200.4(BMP2):c.866G>A (p.Arg289Gln)	BMP2 (R289Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1977843	NM_001200.4(BMP2):c.701A>G (p.Glu234Gly)	BMP2 (E234G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1966945	NM_001200.4(BMP2):c.1065G>A (p.Lys355=)	BMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1938652	NM_001200.4(BMP2):c.100GCG[4] (p.Ala36_Ser37insAla)	BMP2	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1928112	NM_001200.4(BMP2):c.406T>A (p.Leu136Ile)	BMP2 (L136I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1922988	NM_001200.4(BMP2):c.264T>A (p.Gly88=)	BMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1920753	NM_001200.4(BMP2):c.107C>T (p.Ala36Val)	BMP2 (A36V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1920222	NM_001200.4(BMP2):c.644G>A (p.Arg215Gln)	BMP2 (R215Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1801895	NM_001200.4(BMP2):c.87C>T (p.Gly29=)	BMP2	Single nucleotide variant (synonymous variant)	BMP2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1722283	NM_001200.4(BMP2):c.1126G>A (p.Glu376Lys)	BMP2 (E376K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1703638	GRCh37/hg19 20p13-12.2(chr20:3178539-11848383)	ADAM33, ADRA1D +47 more	Copy number loss	20p12.3 microdeletion syndrome	GPathogenic
Select item 1703211	NM_001200.4(BMP2):c.1052C>G (p.Ser351Cys)	BMP2 (S351C)	Single nucleotide variant (missense variant)	Atrial septal defect 1	GPathogenic
Select item 1703210	NM_001200.4(BMP2):c.962A>T (p.His321Leu)	BMP2 (H321L)	Single nucleotide variant (missense variant)	Transposition of the great arteries, dextro-looped	GPathogenic
Select item 1703209	NM_001200.4(BMP2):c.721A>T (p.Lys241Ter)	BMP2 (K241*)	Single nucleotide variant (nonsense)	PDA1	GUncertain significance
Select item 1699318	NM_001200.4(BMP2):c.1191G>C (p.Ter397Tyr)	BMP2	Single nucleotide variant (stop lost)	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1	GLikely pathogenic
Select item 1697002	NM_001200.4(BMP2):c.754C>T (p.Gln252Ter)	BMP2 (Q252*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1679583	NM_001200.4(BMP2):c.922G>A (p.Val308Met)	BMP2 (V308M)	Single nucleotide variant (missense variant)	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1	GUncertain significance
Select item 1674924	NM_001200.4(BMP2):c.87C>A (p.Gly29=)	BMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1663963	NM_001200.4(BMP2):c.975C>T (p.Cys325=)	BMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1660062	NM_001200.4(BMP2):c.90C>A (p.Arg30=)	BMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1649042	NM_001200.4(BMP2):c.279C>T (p.Pro93=)	BMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1623425	NM_001200.4(BMP2):c.219C>T (p.Ala73=)	BMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1617935	NM_001200.4(BMP2):c.663C>T (p.His221=)	BMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1609097	NM_001200.4(BMP2):c.150G>C (p.Leu50=)	BMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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