RECK[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	LOC130001767, LOC130001768 +1006 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	CDKN2B, CDKN2B-AS1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	LOC130001680, LOC130001681 +1062 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	LOC124210611, LOC124210612 +1120 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	LOC130001484, LOC130001485 +883 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LOC130001854, LOC130001855 +1367 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	LOC130001585, LOC130001586 +984 more	Copy number gain	See cases	GPathogenic
Select item 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	LOC130001507, LOC130001508 +899 more	Copy number gain	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	LOC130001746, LOC130001747 +980 more	Copy number gain	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ACER2, ACO1 +899 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 57406	GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	SPATA31F3, SPATA31G1 +898 more	Copy number gain	See cases	GPathogenic
Select item 32288	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ANKRD18B, APTX +899 more	Copy number gain	See cases	GPathogenic
Select item 59876	GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	ACER2, ACO1 +894 more	Copy number gain	See cases	GPathogenic
Select item 148673	GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3	ACER2, ACO1 +586 more	Copy number gain	See cases	GPathogenic
Select item 151755	GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015)	ACER2, ACO1 +691 more	Copy number gain	See cases	GPathogenic
Select item 154223	GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3	ACO1, ALDH1B1 +436 more	Copy number gain	See cases	GLikely pathogenic
Select item 153185	GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3	ACO1, ALDH1B1 +504 more	Copy number gain	See cases	GPathogenic
Select item 144347	GRCh38/hg38 9p13.3-13.1(chr9:33225730-38529813)x3	ALDH1B1, ANKRD18B +360 more	Copy number gain	See cases	GPathogenic
Select item 145374	GRCh38/hg38 9p13.3-13.2(chr9:33572681-36782015)x1	PTENP1-AS, RECK +211 more	Copy number loss	See cases	GPathogenic
Select item 583788	NC_000009.11:g.(?_34645556)_(36277059_?)dup	CCIN, SPATA31F1 +138 more	Duplication	Anauxetic dysplasia	GUncertain significance
Select item 144556	GRCh38/hg38 9p13.3-13.1(chr9:35623500-38815474)x3	ALDH1B1, ANKRD18A +219 more	Copy number gain	See cases	GPathogenic
Select item 2274276	NM_021111.3(RECK):c.59G>T (p.Gly20Val)	LOC130001741, RECK (G20V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2491853	NM_021111.3(RECK):c.61G>T (p.Val21Phe)	LOC130001741, RECK (V21F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3152831	NM_021111.3(RECK):c.80G>T (p.Gly27Val)	LOC130001741, RECK (G27V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2608057	NM_021111.3(RECK):c.95G>A (p.Ser32Asn)	LOC130001741, RECK (S32N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2525047	NM_021111.3(RECK):c.143G>A (p.Arg48His)	RECK (R48H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2604292	NM_021111.3(RECK):c.148G>A (p.Val50Ile)	RECK (V50I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 770385	NM_021111.3(RECK):c.160-8T>G	RECK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2470111	NM_021111.3(RECK):c.201G>T (p.Leu67Phe)	RECK (L67F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2289010	NM_021111.3(RECK):c.239A>C (p.Glu80Ala)	RECK (E80A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2260140	NM_021111.3(RECK):c.245G>C (p.Trp82Ser)	RECK (W82S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2236194	NM_021111.3(RECK):c.298G>C (p.Val100Leu)	RECK (V100L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3152829	NM_021111.3(RECK):c.412C>G (p.Leu138Val)	RECK (L138V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152830	NM_021111.3(RECK):c.658G>A (p.Ala220Thr)	RECK (A92T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313480	NM_021111.3(RECK):c.697C>G (p.Leu233Val)	RECK (L233V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458972	NM_021111.3(RECK):c.742G>A (p.Glu248Lys)	RECK (E120K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313479	NM_021111.3(RECK):c.841C>T (p.Pro281Ser)	RECK (P153S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358842	NM_021111.3(RECK):c.869T>G (p.Leu290Trp)	RECK (L290W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152832	NM_021111.3(RECK):c.922C>T (p.Leu308Phe)	RECK (L180F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406023	NM_021111.3(RECK):c.970C>T (p.Arg324Cys)	RECK (R324C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152823	NM_021111.3(RECK):c.1033C>A (p.Pro345Thr)	RECK (P345T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366797	NM_021111.3(RECK):c.1146G>C (p.Met382Ile)	RECK (M382I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152824	NM_021111.3(RECK):c.1208A>T (p.Lys403Ile)	RECK (K403I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318494	NM_021111.3(RECK):c.1220C>A (p.Pro407Gln)	RECK (P279Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251900	NM_021111.3(RECK):c.1234G>A (p.Ala412Thr)	RECK (A284T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 707848	NM_021111.3(RECK):c.1299-3A>C	RECK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3313478	NM_021111.3(RECK):c.1300T>C (p.Ser434Pro)	RECK (S434P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 729613	NM_021111.3(RECK):c.1304A>G (p.Asp435Gly)	RECK (D307G +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2534837	NM_021111.3(RECK):c.1361C>G (p.Thr454Arg)	RECK (T326R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564595	NM_021111.3(RECK):c.1463A>G (p.Glu488Gly)	RECK (E360G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313477	NM_021111.3(RECK):c.1475A>C (p.His492Pro)	RECK (H492P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560193	NM_021111.3(RECK):c.1613G>A (p.Arg538His)	RECK (R538H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225893	NM_021111.3(RECK):c.1621A>G (p.Thr541Ala)	RECK (T413A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603109	NM_021111.3(RECK):c.1658G>A (p.Gly553Asp)	RECK (G425D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659189	NM_021111.3(RECK):c.1665T>C (p.Tyr555=)	RECK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2604793	NM_021111.3(RECK):c.1717C>T (p.His573Tyr)	RECK (H445Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269933	NM_021111.3(RECK):c.1728C>G (p.Asp576Glu)	RECK (D448E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457588	NM_021111.3(RECK):c.1744A>G (p.Ile582Val)	RECK (I582V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205085	NM_021111.3(RECK):c.1764A>T (p.Lys588Asn)	RECK (K588N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549534	NM_021111.3(RECK):c.1856A>T (p.His619Leu)	RECK (H491L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310925	NM_021111.3(RECK):c.1969C>T (p.Arg657Cys)	RECK (R529C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223684	NM_021111.3(RECK):c.1970G>A (p.Arg657His)	RECK (R657H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271375	NM_021111.3(RECK):c.1997T>G (p.Phe666Cys)	RECK (F666C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537762	NM_021111.3(RECK):c.2039A>T (p.Asn680Ile)	RECK (N680I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290281	NM_021111.3(RECK):c.2055C>G (p.Asn685Lys)	RECK (N685K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318018	NM_021111.3(RECK):c.2090C>T (p.Thr697Met)	RECK (T569M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152825	NM_021111.3(RECK):c.2162A>T (p.Asp721Val)	RECK (D721V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152826	NM_021111.3(RECK):c.2164C>T (p.Pro722Ser)	RECK (P594S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204714	NM_021111.3(RECK):c.2272G>A (p.Glu758Lys)	RECK (E758K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253770	NM_021111.3(RECK):c.2278G>A (p.Val760Ile)	RECK (V632I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2236676	NM_021111.3(RECK):c.2333G>A (p.Arg778His)	RECK (R650H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253799	NM_021111.3(RECK):c.2335G>A (p.Val779Met)	RECK (V651M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345564	NM_021111.3(RECK):c.2344G>A (p.Asp782Asn)	RECK (D782N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263608	NM_021111.3(RECK):c.2386C>T (p.His796Tyr)	RECK (H668Y +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2357162	NM_021111.3(RECK):c.2395G>A (p.Val799Ile)	RECK (V671I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152827	NM_021111.3(RECK):c.2398G>A (p.Ala800Thr)	RECK (A672T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2235946	NM_021111.3(RECK):c.2531T>C (p.Ile844Thr)	RECK (I716T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289011	NM_021111.3(RECK):c.2539G>A (p.Val847Ile)	RECK (V719I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152828	NM_021111.3(RECK):c.2563G>T (p.Val855Phe)	RECK (V727F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374094	NM_021111.3(RECK):c.2590A>T (p.Met864Leu)	RECK (M864L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512537	NM_021111.3(RECK):c.2638G>A (p.Glu880Lys)	RECK (E752K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282594	NM_021111.3(RECK):c.2785C>G (p.Leu929Val)	RECK (L801V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401249	NM_021111.3(RECK):c.2817T>A (p.Ser939Arg)	RECK (S811R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768292	NM_021111.3(RECK):c.2829C>T (p.Ala943=)	RECK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2491152	NM_021111.3(RECK):c.2855A>C (p.His952Pro)	RECK (H824P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215135	NM_021111.3(RECK):c.2906C>T (p.Thr969Ile)	RECK (T969I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245304	NC_000009.11:g.(?_32453279)_(36276941_?)dup	ANKRD18B, APTX +75 more	Duplication	not provided	GUncertain significance
Select item 3245076	NC_000009.11:g.(?_33436037)_(37436779_?)del	ANKRD18B, AQP3 +66 more	Deletion	Spastic paraplegia	GPathogenic
Select item 3242301	GRCh37/hg19 9p13.3-13.1(chr9:35495055-39184042)x1	ALDH1B1, ANKRD18A +45 more	Copy number loss	not provided	GPathogenic
Select item 3063115	GRCh37/hg19 9p13.3-13.1(chr9:35440393-38787480)x1	ALDH1B1, ANKRD18A +44 more	Copy number loss	not specified	GLikely pathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic

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