7998[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 144268	GRCh38/hg38 5q31.1-31.3(chr5:135297294-140106003)x3	BRD8, CDC23 +236 more	Copy number gain	See cases	GPathogenic
Select item 145330	GRCh38/hg38 5q31.2-31.3(chr5:137836682-140696361)x3	ECSCR, EGR1 +224 more	Copy number gain	See cases	GPathogenic
Select item 58388	GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1	ANKHD1, ANKHD1-DT +377 more	Copy number loss	See cases	GPathogenic
Select item 3202108	NM_004883.3(NRG2):c.2420C>T (p.Ser807Leu)	LOC129994810, NRG2 (S604L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346489	NM_004883.3(NRG2):c.2401G>T (p.Ala801Ser)	LOC129994810, NRG2 (A735S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534351	NM_004883.3(NRG2):c.2399G>C (p.Gly800Ala)	LOC129994810, NRG2 (G597A +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3202107	NM_004883.3(NRG2):c.2374A>C (p.Ser792Arg)	LOC129994810, NRG2 (S794R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301026	NM_004883.3(NRG2):c.2372A>G (p.Glu791Gly)	LOC129994810, NRG2 (E785G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590603	NM_004883.3(NRG2):c.2368G>A (p.Ala790Thr)	LOC129994810, NRG2 (A587T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327551	NM_004883.3(NRG2):c.2276C>T (p.Ala759Val)	NRG2 (A556V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605471	NM_004883.3(NRG2):c.2270G>C (p.Arg757Pro)	NRG2 (R751P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320593	NM_004883.3(NRG2):c.2269C>T (p.Arg757Trp)	NRG2 (R554W +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618987	NM_004883.3(NRG2):c.2263C>G (p.Arg755Gly)	NRG2 (R757G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269803	NM_004883.3(NRG2):c.2255C>A (p.Ala752Glu)	NRG2 (A754E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285509	NM_004883.3(NRG2):c.2249G>T (p.Gly750Val)	NRG2 (G750V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559647	NM_004883.3(NRG2):c.2224C>G (p.Arg742Gly)	NRG2 (R676G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392612	NM_004883.3(NRG2):c.2209T>C (p.Ser737Pro)	LOC129994811, NRG2 (S671P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530079	NM_004883.3(NRG2):c.2206A>G (p.Thr736Ala)	LOC129994811, NRG2 (T730A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202104	NM_004883.3(NRG2):c.2197T>C (p.Ser733Pro)	LOC129994811, NRG2 (S530P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202103	NM_004883.3(NRG2):c.2186C>A (p.Ala729Glu)	LOC129994811, NRG2 (A731E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387347	NM_004883.3(NRG2):c.2179C>T (p.Pro727Ser)	LOC129994811, NRG2 (P524S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534350	NM_004883.3(NRG2):c.2177G>C (p.Arg726Pro)	LOC129994811, NRG2 (R660P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202101	NM_004883.3(NRG2):c.2122C>G (p.Pro708Ala)	LOC129994811, NRG2 (P642A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301027	NM_004883.3(NRG2):c.2121C>G (p.Ile707Met)	LOC129994811, NRG2 (I641M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323264	NM_004883.3(NRG2):c.2095A>G (p.Ser699Gly)	LOC129994811, NRG2 (S633G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384498	NM_004883.3(NRG2):c.2090T>C (p.Leu697Pro)	LOC129994811, NRG2 (L494P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471168	NM_004883.3(NRG2):c.2071T>G (p.Cys691Gly)	LOC129994811, NRG2 (C625G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202099	NM_004883.3(NRG2):c.2050C>T (p.Pro684Ser)	LOC129994811, NRG2 (P481S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255035	NM_004883.3(NRG2):c.2003C>T (p.Ala668Val)	LOC129994811, NRG2 (A465V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469421	NM_004883.3(NRG2):c.1991C>G (p.Pro664Arg)	LOC129994811, NRG2 (P664R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511080	NM_004883.3(NRG2):c.1990C>T (p.Pro664Ser)	LOC129994811, NRG2 (P461S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1241401	NM_004883.3(NRG2):c.1971ACCCGG[1] (p.654PG[6])	LOC129994811, NRG2	Microsatellite (inframe_deletion)	not provided	GBenign
Select item 3202098	NM_004883.3(NRG2):c.1976G>C (p.Gly659Ala)	LOC129994811, NRG2 (G593A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259424	NM_004883.3(NRG2):c.1975G>C (p.Gly659Arg)	LOC129994811, NRG2 (G456R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468933	NM_004883.3(NRG2):c.1957C>G (p.Pro653Ala)	LOC129994811, NRG2 (P450A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322234	NM_004883.3(NRG2):c.1957C>A (p.Pro653Thr)	LOC129994811, NRG2 (P647T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202097	NM_004883.3(NRG2):c.1952C>T (p.Pro651Leu)	LOC129994811, NRG2 (P448L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620852	NM_004883.3(NRG2):c.1874C>T (p.Ser625Leu)	LOC129994811, NRG2 (S625L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383026	NM_004883.3(NRG2):c.1856A>C (p.Glu619Ala)	LOC129994811, NRG2 (E416A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476796	NM_004883.3(NRG2):c.1813G>A (p.Val605Met)	LOC129994811, NRG2 (V402M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359180	NM_004883.3(NRG2):c.1777G>T (p.Val593Leu)	NRG2 (V527L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373176	NM_004883.3(NRG2):c.1750C>T (p.Arg584Cys)	NRG2 (R586C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202096	NM_004883.3(NRG2):c.1738G>A (p.Val580Met)	NRG2 (V377M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286387	NM_004883.3(NRG2):c.1712C>T (p.Ala571Val)	NRG2 (A571V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354680	NM_004883.3(NRG2):c.1703G>A (p.Arg568Gln)	NRG2 (R562Q +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2405236	NM_004883.3(NRG2):c.1679C>T (p.Ala560Val)	NRG2 (A568V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272209	NM_004883.3(NRG2):c.1598C>T (p.Ser533Phe)	NRG2 (S330F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609098	NM_004883.3(NRG2):c.1469A>C (p.Glu490Ala)	NRG2 (E490A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347016	NM_004883.3(NRG2):c.1426A>C (p.Lys476Gln)	NRG2 (K273Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329634	NM_004883.3(NRG2):c.1381C>T (p.Pro461Ser)	NRG2 (P258S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202095	NM_004883.3(NRG2):c.1324C>T (p.Arg442Trp)	NRG2 (R239W +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202094	NM_004883.3(NRG2):c.1264G>A (p.Val422Ile)	NRG2 (V356I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249503	NM_004883.3(NRG2):c.1241T>G (p.Val414Gly)	NRG2 (V408G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301028	NM_004883.3(NRG2):c.1195G>A (p.Glu399Lys)	NRG2 (E393K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301024	NM_004883.3(NRG2):c.1039G>A (p.Glu347Lys)	NRG2 (E144K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272018	NM_004883.3(NRG2):c.1024G>A (p.Ala342Thr)	NRG2 (A139T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477701	NM_004883.3(NRG2):c.1016C>T (p.Ser339Leu)	NRG2 (S339L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207635	NM_004883.3(NRG2):c.982G>A (p.Val328Ile)	NRG2 (V125I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474573	NM_004883.3(NRG2):c.964G>C (p.Val322Leu)	NRG2 (V322L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2429921	NM_004883.3(NRG2):c.872+1G>A	NRG2	Single nucleotide variant (splice donor variant)	Autism spectrum disorder	GUncertain significance
Select item 2408707	NM_004883.3(NRG2):c.850C>T (p.Arg284Cys)	NRG2 (R284C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604028	NM_004883.3(NRG2):c.806G>A (p.Arg269His)	NRG2 (R269H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525649	NM_004883.3(NRG2):c.785G>A (p.Gly262Asp)	NRG2 (G262D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335170	NM_004883.3(NRG2):c.731G>A (p.Ser244Asn)	NRG2 (S244N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202112	NM_004883.3(NRG2):c.634G>A (p.Ala212Thr)	NRG2 (A212T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534355	NM_004883.3(NRG2):c.615A>C (p.Leu205Phe)	NRG2 (L205F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478073	NM_004883.3(NRG2):c.511A>C (p.Ser171Arg)	NRG2 (S171R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552419	NM_004883.3(NRG2):c.442A>G (p.Ser148Gly)	NRG2 (S148G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202110	NM_004883.3(NRG2):c.433A>G (p.Ser145Gly)	NRG2 (S145G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 737609	NM_004883.3(NRG2):c.424G>A (p.Gly142Ser)	NRG2 (G142S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2534353	NM_004883.3(NRG2):c.416T>C (p.Val139Ala)	NRG2 (V139A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2515718	NM_004883.3(NRG2):c.385G>T (p.Val129Leu)	NRG2 (V129L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222318	NM_004883.3(NRG2):c.298G>A (p.Gly100Ser)	NRG2 (G100S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202109	NM_004883.3(NRG2):c.244G>A (p.Ala82Thr)	NRG2 (A82T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202106	NM_004883.3(NRG2):c.235C>T (p.Arg79Trp)	NRG2 (R79W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202102	NM_004883.3(NRG2):c.218C>T (p.Pro73Leu)	NRG2 (P73L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372659	NM_004883.3(NRG2):c.217C>A (p.Pro73Thr)	NRG2 (P73T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603918	NM_004883.3(NRG2):c.187C>G (p.Pro63Ala)	NRG2 (P63A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569426	NM_004883.3(NRG2):c.155A>G (p.Asn52Ser)	NRG2 (N52S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2526048	NM_004883.3(NRG2):c.144G>C (p.Arg48Ser)	NRG2 (R48S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2534349	NM_004883.3(NRG2):c.141C>G (p.Ser47Arg)	NRG2 (S47R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569425	NM_004883.3(NRG2):c.130G>A (p.Gly44Ser)	NRG2 (G44S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2611065	NM_004883.3(NRG2):c.91G>C (p.Glu31Gln)	NRG2 (E31Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395676	NM_004883.3(NRG2):c.79A>G (p.Ser27Gly)	NRG2 (S27G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202111	NM_004883.3(NRG2):c.62G>A (p.Ser21Asn)	NRG2 (S21N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713423	NM_004883.3(NRG2):c.53G>A (p.Arg18Gln)	NRG2 (R18Q)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2534354	NM_004883.3(NRG2):c.50G>C (p.Gly17Ala)	NRG2 (G17A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3239405	NM_004883.3(NRG2):c.5G>A (p.Arg2Gln)	NRG2 (R2Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2425421	NC_000005.9:g.(?_136957787)_(140078137_?)dup	ANKHD1, ANKHD1-EIF4EBP3 +53 more	Duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 1340844	GRCh37/hg19 5q31.2(chr5:138675227-139314012)x1	CXXC5, DNAJC18 +10 more	Copy number loss	not provided	GUncertain significance
Select item 1020265	NC_000005.9:g.(?_136633338)_(140998481_?)dup	PCDHA11, PCDHA12 +116 more	Duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563111	GRCh37/hg19 5q31.2-31.3(chr5:139147238-141540491)x1	PCDHA13, PCDHGB5 +92 more	Copy number loss	not provided	GPathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	ARB2A, CHD1 +385 more	Deletion	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic

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