971[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059149, LOC130059150 +1738 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059618, LOC130059619 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	AARS1, ACD +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059185, LOC130059186 +869 more	Copy number gain	See cases	GPathogenic
Select item 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	AARS1, ADAMTS18 +572 more	Copy number gain	See cases	GPathogenic
Select item 59514	GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1	AARS1, ADAT1 +295 more	Copy number loss	See cases	GPathogenic
Select item 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	ADAD2, ADAMTS18 +591 more	Copy number loss	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	HSBP1, HSD17B2 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	LOC126862439, LOC126862440 +1031 more	Copy number gain	See cases	GPathogenic
Select item 59515	GRCh38/hg38 16q22.3-23.3(chr16:73049467-82576326)x1	ADAMTS18, ADAT1 +360 more	Copy number loss	See cases	GPathogenic
Select item 59996	GRCh38/hg38 16q22.3-23.1(chr16:73917167-75319927)x3	BCAR1, CFDP1 +75 more	Copy number gain	See cases	GUncertain significance
Select item 60021	GRCh38/hg38 16q23.1(chr16:74658508-75378014)x3	BCAR1, CFDP1 +60 more	Copy number gain	See cases	GUncertain significance
Select item 153591	GRCh38/hg38 16q23.1(chr16:74688486-75377736)x3	BCAR1, CFDP1 +58 more	Copy number gain	See cases	GUncertain significance
Select item 150246	GRCh38/hg38 16q23.1(chr16:74811982-75698467)x3	ADAT1, BCAR1 +83 more	Copy number gain	See cases	GUncertain significance
Select item 146037	GRCh38/hg38 16q23.1(chr16:74881191-75310294)x1	BCAR1, CFDP1 +42 more	Copy number loss	See cases	GUncertain significance
Select item 155122	GRCh38/hg38 16q23.1(chr16:75227456-75731127)x3	ADAT1, BCAR1 +52 more	Copy number gain	See cases	GUncertain significance
Select item 2339026	NM_014567.5(BCAR1):c.2531A>G (p.Gln844Arg)	BCAR1 (Q862R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305816	NM_014567.5(BCAR1):c.2485A>G (p.Thr829Ala)	BCAR1 (T619A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345395	NM_014567.5(BCAR1):c.2471G>A (p.Arg824His)	BCAR1 (R842H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133264	NM_014567.5(BCAR1):c.2429G>A (p.Ser810Asn)	BCAR1 (S600N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408569	NM_014567.5(BCAR1):c.2305G>A (p.Val769Met)	BCAR1 (V559M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 748970	NM_014567.5(BCAR1):c.2304C>T (p.Ala768=)	BCAR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3133263	NM_014567.5(BCAR1):c.2302G>A (p.Ala768Thr)	BCAR1 (A620T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133262	NM_014567.5(BCAR1):c.2261A>G (p.Asn754Ser)	BCAR1 (N606S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346766	NM_014567.5(BCAR1):c.2216C>T (p.Ser739Leu)	BCAR1 (S529L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210515	NM_014567.5(BCAR1):c.2213C>T (p.Pro738Leu)	BCAR1 (P528L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133261	NM_014567.5(BCAR1):c.2168C>T (p.Thr723Met)	BCAR1 (T741M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552570	NM_014567.5(BCAR1):c.2137C>T (p.Arg713Trp)	BCAR1 (R503W +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468130	NM_014567.5(BCAR1):c.2117G>A (p.Arg706Gln)	BCAR1 (R558Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283975	NM_014567.5(BCAR1):c.2105A>G (p.Lys702Arg)	BCAR1 (K554R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774924	NM_014567.5(BCAR1):c.2100+10C>T	BCAR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 712848	NM_014567.5(BCAR1):c.2078A>G (p.Lys693Arg)	BCAR1 (K483R +5 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2402661	NM_014567.5(BCAR1):c.2069G>A (p.Arg690Gln)	BCAR1 (R690Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133259	NM_014567.5(BCAR1):c.1971G>T (p.Glu657Asp)	BCAR1 (E447D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610538	NM_014567.5(BCAR1):c.1949A>G (p.Asp650Gly)	BCAR1 (D650G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133258	NM_014567.5(BCAR1):c.1943C>T (p.Ser648Leu)	BCAR1 (S648L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468489	NM_014567.5(BCAR1):c.1837C>A (p.Pro613Thr)	BCAR1 (P403T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768795	NM_014567.5(BCAR1):c.1835C>T (p.Ala612Val)	BCAR1 (A610V +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2646871	NM_014567.5(BCAR1):c.1820G>A (p.Arg607Gln)	BCAR1 (R397Q +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3133257	NM_014567.5(BCAR1):c.1795G>A (p.Gly599Ser)	BCAR1 (G599S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479768	NM_014567.5(BCAR1):c.1792C>T (p.His598Tyr)	BCAR1 (H596Y +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787984	NM_014567.5(BCAR1):c.1768G>A (p.Ala590Thr)	BCAR1 (A380T +5 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2461945	NM_014567.5(BCAR1):c.1733G>A (p.Arg578Gln)	BCAR1 (R596Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781210	NM_014567.5(BCAR1):c.1702G>A (p.Gly568Ser)	BCAR1 (G566S +5 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2208028	NM_014567.5(BCAR1):c.1697G>A (p.Arg566Gln)	BCAR1 (R564Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459518	NM_014567.5(BCAR1):c.1678C>G (p.Gln560Glu)	BCAR1 (Q412E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785541	NM_014567.5(BCAR1):c.1673A>G (p.His558Arg)	BCAR1 (H348R +5 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3133255	NM_014567.5(BCAR1):c.1666G>A (p.Val556Met)	BCAR1 (V408M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335229	NM_014567.5(BCAR1):c.1654C>T (p.His552Tyr)	BCAR1 (H570Y +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2603880	NM_014567.5(BCAR1):c.1645G>C (p.Glu549Gln)	BCAR1 (E595Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133254	NM_014567.5(BCAR1):c.1572C>G (p.Ser524Arg)	BCAR1 (S542R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397256	NM_014567.5(BCAR1):c.1568G>A (p.Arg523His)	BCAR1 (R523H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781211	NM_014567.5(BCAR1):c.1542C>T (p.Ala514=)	BCAR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3133253	NM_014567.5(BCAR1):c.1528G>A (p.Ala510Thr)	BCAR1 (A300T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646872	NM_014567.5(BCAR1):c.1510C>T (p.Leu504=)	BCAR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3133252	NM_014567.5(BCAR1):c.1508A>T (p.Asp503Val)	BCAR1 (D355V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507584	NM_014567.5(BCAR1):c.1498C>A (p.Leu500Met)	BCAR1 (L290M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133250	NM_014567.5(BCAR1):c.1496C>T (p.Pro499Leu)	BCAR1 (P289L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785542	NM_014567.5(BCAR1):c.1472G>T (p.Arg491Leu)	BCAR1 (R281L +5 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3133249	NM_014567.5(BCAR1):c.1457C>T (p.Ala486Val)	BCAR1 (A504V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342972	NM_014567.5(BCAR1):c.1453G>A (p.Gly485Ser)	BCAR1 (G275S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602387	NM_014567.5(BCAR1):c.1450G>A (p.Ala484Thr)	BCAR1 (A274T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516648	NM_014567.5(BCAR1):c.1420G>A (p.Val474Ile)	BCAR1 (V264I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781339	NM_014567.5(BCAR1):c.1419C>T (p.Thr473=)	BCAR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 777042	NM_014567.5(BCAR1):c.1356A>C (p.Glu452Asp)	BCAR1 (E242D +5 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 787985	NM_014567.5(BCAR1):c.1349G>T (p.Gly450Val)	BCAR1 (G302V +5 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2269451	NM_014567.5(BCAR1):c.1283C>T (p.Ser428Leu)	BCAR1 (S218L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777043	NM_014567.5(BCAR1):c.1233G>A (p.Ala411=)	BCAR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2460631	NM_014567.5(BCAR1):c.1220G>A (p.Ser407Asn)	BCAR1 (S425N +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3133248	NM_014567.5(BCAR1):c.1216G>A (p.Asp406Asn)	BCAR1 (D196N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781212	NM_014567.5(BCAR1):c.1215C>T (p.Val405=)	BCAR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2309636	NM_014567.5(BCAR1):c.1202A>T (p.Asp401Val)	BCAR1 (D447V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133247	NM_014567.5(BCAR1):c.1199C>G (p.Ala400Gly)	BCAR1 (A398G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133245	NM_014567.5(BCAR1):c.1178G>A (p.Arg393Gln)	BCAR1 (R393Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365624	NM_014567.5(BCAR1):c.1177C>T (p.Arg393Trp)	BCAR1 (R391W +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344517	NM_014567.5(BCAR1):c.1162G>T (p.Asp388Tyr)	BCAR1 (D240Y +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508605	NM_014567.5(BCAR1):c.1151G>A (p.Gly384Asp)	BCAR1 (G174D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458476	NM_014567.5(BCAR1):c.1148C>T (p.Pro383Leu)	BCAR1 (P381L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133244	NM_014567.5(BCAR1):c.1130G>T (p.Gly377Val)	BCAR1 (G375V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133243	NM_014567.5(BCAR1):c.1094C>T (p.Pro365Leu)	BCAR1 (P365L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267975	NM_014567.5(BCAR1):c.1070C>T (p.Pro357Leu)	BCAR1 (P147L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713188	NM_014567.5(BCAR1):c.1068G>A (p.Pro356=)	BCAR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 768796	NM_014567.5(BCAR1):c.1067C>T (p.Pro356Leu)	BCAR1 (P374L +5 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2383589	NM_014567.5(BCAR1):c.1036C>G (p.Leu346Val)	BCAR1 (L136V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3027276	NM_014567.5(BCAR1):c.1017T>C (p.Phe339=)	BCAR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3133242	NM_014567.5(BCAR1):c.1000G>A (p.Ala334Thr)	BCAR1 (A186T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133241	NM_014567.5(BCAR1):c.997T>C (p.Phe333Leu)	BCAR1 (F333L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133240	NM_014567.5(BCAR1):c.968G>A (p.Arg323His)	BCAR1 (R321H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521698	NM_014567.5(BCAR1):c.961C>G (p.Leu321Val)	BCAR1 (L173V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133239	NM_014567.5(BCAR1):c.922G>A (p.Val308Ile)	BCAR1 (V308I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525255	NM_014567.5(BCAR1):c.910G>A (p.Ala304Thr)	BCAR1 (A302T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243079	NM_014567.5(BCAR1):c.895C>T (p.Pro299Ser)	BCAR1 (P151S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338574	NM_014567.5(BCAR1):c.883A>G (p.Lys295Glu)	BCAR1 (K147E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400786	NM_014567.5(BCAR1):c.875G>C (p.Ser292Thr)	BCAR1 (S290T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550190	NM_014567.5(BCAR1):c.869C>T (p.Pro290Leu)	BCAR1 (P308L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283928	NM_014567.5(BCAR1):c.844C>G (p.Pro282Ala)	BCAR1 (P134A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385234	NM_014567.5(BCAR1):c.838C>G (p.Arg280Gly)	BCAR1 (R280G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646873	NM_014567.5(BCAR1):c.807A>C (p.Thr269=)	BCAR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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