1069[HGNC] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 217

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149704	GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3	LOC130065344, LOC130065345 +455 more	Copy number gain	See cases	GPathogenic
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	ADAM33, ADISSP +571 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	ADAM33, ADISSP +579 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	LOC130065324, LOC130065325 +581 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 154850	GRCh38/hg38 20p13-12.3(chr20:1269303-8626911)x3	LOC130065322, LOC130065323 +300 more	Copy number gain	See cases	GPathogenic
Select item 148627	GRCh38/hg38 20p13-12.3(chr20:4343033-6911730)x1	BMP2, CASC20 +101 more	Copy number loss	See cases	GPathogenic
Select item 148980	GRCh38/hg38 20p12.3(chr20:6186076-8804328)x3	BMP2, CASC20 +34 more	Copy number gain	See cases	GUncertain significance
Select item 57236	GRCh38/hg38 20p12.3(chr20:6336607-8577546)x1	BMP2, CASC20 +30 more	Copy number loss	See cases	GPathogenic
Select item 145966	GRCh38/hg38 20p12.3-12.1(chr20:6617695-13392559)x1	ANKEF1, BMP2 +109 more	Copy number loss	See cases	GPathogenic
Select item 492936	NM_001200.4(BMP2):c.-7-2_-7-1delinsCC	BMP2	Indel (splice acceptor variant)	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1	GPathogenic
Select item 489195	NM_001200.4(BMP2):c.1A>G (p.Met1Val)	BMP2 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 850711	NM_001200.4(BMP2):c.16C>T (p.Arg6Cys)	BMP2 (R6C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3368072	NM_001200.4(BMP2):c.25C>A (p.Leu9Ile)	BMP2 (L9I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 620208	NM_001200.4(BMP2):c.43C>T (p.Gln15Ter)	BMP2 (Q15*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1100541	NM_001200.4(BMP2):c.48C>G (p.Val16=)	BMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3370799	NM_001200.4(BMP2):c.58G>A (p.Gly20Ser)	BMP2 (G20S)	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 1506168	NM_001200.4(BMP2):c.68G>C (p.Gly23Ala)	BMP2 (G23A)	Single nucleotide variant (missense variant)	not provided	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 492934	NM_001200.4(BMP2):c.79G>T (p.Glu27Ter)	BMP2 (E27*)	Single nucleotide variant (nonsense)	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies	GLikely pathogenic
Select item 1801895	NM_001200.4(BMP2):c.87C>T (p.Gly29=)	BMP2	Single nucleotide variant (synonymous variant)	not provided	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 1660062	NM_001200.4(BMP2):c.90C>A (p.Arg30=)	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 2421743	NM_001200.4(BMP2):c.100G>C (p.Ala34Pro)	BMP2 (A34P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 195137	NM_001200.4(BMP2):c.109T>G (p.Ser37Ala)	BMP2 (S37A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
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 2852875	NM_001200.4(BMP2):c.133C>A (p.Pro45Thr)	BMP2 (P45T)	Single nucleotide variant (missense variant)	not provided	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 1451444	NM_001200.4(BMP2):c.142G>T (p.Glu48Ter)	BMP2 (E48*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1419739	NM_001200.4(BMP2):c.144G>C (p.Glu48Asp)	BMP2 (E48D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1609097	NM_001200.4(BMP2):c.150G>C (p.Leu50=)	BMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1348330	NM_001200.4(BMP2):c.159C>G (p.Phe53Leu)	BMP2 (F53L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1396590	NM_001200.4(BMP2):c.172C>T (p.Leu58Phe)	BMP2 (L58F)	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 2887117	NM_001200.4(BMP2):c.177C>A (p.Ser59Arg)	BMP2 (S59R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 590935	NM_001200.4(BMP2):c.178A>C (p.Met60Leu)	BMP2 (M60L)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
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 1075203	NM_001200.4(BMP2):c.197_198del (p.Arg66fs)	BMP2 (R66fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1051813	NM_001200.4(BMP2):c.194A>G (p.Gln65Arg)	BMP2 (Q65R)	Single nucleotide variant (missense variant)	not provided	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 597112	NM_001200.4(BMP2):c.200C>G (p.Pro67Arg)	BMP2 (P67R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1623425	NM_001200.4(BMP2):c.219C>T (p.Ala73=)	BMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2573988	NM_001200.4(BMP2):c.231dup (p.Tyr78fs)	BMP2 (Y78fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 3065565	NM_001200.4(BMP2):c.231del (p.Tyr78fs)	BMP2 (Y78fs)	Deletion (frameshift variant)	Type A2 brachydactyly	GUncertain significance
Select item 743550	NM_001200.4(BMP2):c.228C>G (p.Pro76=)	BMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1430527	NM_001200.4(BMP2):c.230C>G (p.Pro77Arg)	BMP2 (P77R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 985607	NM_001200.4(BMP2):c.235A>G (p.Met79Val)	BMP2 (M79V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2981837	NM_001200.4(BMP2):c.247T>C (p.Tyr83His)	BMP2 (Y83H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 195136	NM_001200.4(BMP2):c.261A>G (p.Ser87=)	BMP2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1922988	NM_001200.4(BMP2):c.264T>A (p.Gly88=)	BMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1452466	NM_001200.4(BMP2):c.265C>T (p.Gln89Ter)	BMP2 (Q89*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1441788	NM_001200.4(BMP2):c.271G>T (p.Gly91Cys)	BMP2 (G91C)	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 287729	NM_001200.4(BMP2):c.275C>T (p.Ser92Leu)	BMP2 (S92L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1649042	NM_001200.4(BMP2):c.279C>T (p.Pro93=)	BMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2771615	NM_001200.4(BMP2):c.290A>G (p.His97Arg)	BMP2 (H97R)	Single nucleotide variant (missense variant)	not provided	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 2688671	NM_001200.4(BMP2):c.307G>A (p.Ala103Thr)	BMP2 (A103T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2439530	NM_001200.4(BMP2):c.316G>A (p.Ala106Thr)	BMP2 (A106T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 289861	NM_001200.4(BMP2):c.323C>T (p.Thr108Ile)	BMP2 (T108I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3029839	NM_001200.4(BMP2):c.326del (p.Val109fs)	BMP2 (V109fs)	Deletion (frameshift variant)	BMP2-related disorder	GLikely pathogenic
Select item 2903762	NM_001200.4(BMP2):c.326T>C (p.Val109Ala)	BMP2 (V109A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1314683	NM_001200.4(BMP2):c.329G>A (p.Arg110His)	BMP2 (R110H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3337857	NM_001200.4(BMP2):c.341A>C (p.His114Pro)	BMP2 (H114P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1453645	NM_001200.4(BMP2):c.346+2T>C	BMP2	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2004818	NM_001200.4(BMP2):c.346+4A>G	BMP2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2996972	NM_001200.4(BMP2):c.346+5G>A	BMP2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1222016	NM_001200.4(BMP2):c.346+197A>G	BMP2	Single nucleotide variant (intron variant)	not provided	GBenign
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 3354501	NM_001200.4(BMP2):c.367G>A (p.Glu123Lys)	BMP2 (E123K)	Single nucleotide variant (missense variant)	BMP2-related disorder	GUncertain significance
Select item 598369	NM_001200.4(BMP2):c.370A>G (p.Thr124Ala)	BMP2 (T124A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1472834	NM_001200.4(BMP2):c.371C>T (p.Thr124Met)	BMP2 (T124M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 789541	NM_001200.4(BMP2):c.374G>A (p.Ser125Asn)	BMP2 (S125N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 1492914	NM_001200.4(BMP2):c.392G>T (p.Arg131Ile)	BMP2 (R131I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 762427	NM_001200.4(BMP2):c.393A>T (p.Arg131Ser)	BMP2 (R131S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3252729	NM_001200.4(BMP2):c.395T>G (p.Phe132Cys)	BMP2 (F132C)	Single nucleotide variant (missense variant)	not provided	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 1928112	NM_001200.4(BMP2):c.406T>A (p.Leu136Ile)	BMP2 (L136I)	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 1365952	NM_001200.4(BMP2):c.422C>T (p.Thr141Met)	BMP2 (T141M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 722412	NM_001200.4(BMP2):c.435C>A (p.Ile145=)	BMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3344475	NM_001200.4(BMP2):c.448C>A (p.Leu150Ile)	BMP2 (L150I)	Single nucleotide variant (missense variant)	BMP2-related disorder	GUncertain significance
Select item 1513058	NM_001200.4(BMP2):c.458T>A (p.Phe153Tyr)	BMP2 (F153Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 388927	NM_001200.4(BMP2):c.460C>T (p.Arg154Ter)	BMP2 (R154*)	Single nucleotide variant (nonsense)	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies +1 more	GPathogenic/Likely pathogenic
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 2901575	NM_001200.4(BMP2):c.477T>C (p.Asp159=)	BMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

<< First< Prev

Page of 3