CAND2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150031	GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3	ARL8B, ARPC4 +406 more	Copy number gain	See cases	GPathogenic
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936198, LOC129936199 +647 more	Copy number gain	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 155699	GRCh38/hg38 3p26.1-25.1(chr3:7356110-14360442)x3	ARPC4, ARPC4-TTLL3 +307 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 148966	GRCh38/hg38 3p25.2(chr3:12487565-12997325)x3	CAND2, IQSEC1 +42 more	Copy number gain	See cases	GUncertain significance
Select item 57699	GRCh38/hg38 3p25.2(chr3:12608508-12802654)x3	CAND2, LOC129936177 +10 more	Copy number gain	See cases	GUncertain significance
Select item 2338578	NM_001162499.2(CAND2):c.126C>A (p.Asp42Glu)	CAND2 (D42E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263114	NM_001162499.2(CAND2):c.184G>A (p.Gly62Ser)	CAND2 (G62S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263121	NM_001162499.2(CAND2):c.209A>G (p.Lys70Arg)	CAND2 (K70R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263106	NM_001162499.2(CAND2):c.213C>T (p.Cys71=)	CAND2	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2477500	NM_001162499.2(CAND2):c.221C>T (p.Pro74Leu)	CAND2 (P74L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136962	NM_001162499.2(CAND2):c.269C>T (p.Thr90Ile)	CAND2 (T90I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263122	NM_001162499.2(CAND2):c.286C>T (p.Arg96Trp)	CAND2 (R96W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263113	NM_001162499.2(CAND2):c.305T>C (p.Leu102Pro)	CAND2 (L102P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522588	NM_001162499.2(CAND2):c.319G>A (p.Gly107Ser)	CAND2 (G107S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263118	NM_001162499.2(CAND2):c.333G>C (p.Lys111Asn)	CAND2 (K111N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240919	NM_001162499.2(CAND2):c.355C>G (p.Pro119Ala)	CAND2 (P119A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2653546	NM_001162499.2(CAND2):c.643G>A (p.Ala215Thr)	CAND2, LOC129936186 (A122T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2254403	NM_001162499.2(CAND2):c.731T>G (p.Val244Gly)	CAND2, LOC129936186 (V244G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136973	NM_001162499.2(CAND2):c.754C>G (p.Leu252Val)	CAND2, LOC129936186 (L159V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494182	NM_001162499.2(CAND2):c.953G>A (p.Ser318Asn)	CAND2 (S225N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653547	NM_001162499.2(CAND2):c.992A>T (p.Glu331Val)	CAND2 (E238V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2333733	NM_001162499.2(CAND2):c.1031A>G (p.Asp344Gly)	CAND2 (D251G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402165	NM_001162499.2(CAND2):c.1036G>A (p.Asp346Asn)	CAND2 (D346N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136947	NM_001162499.2(CAND2):c.1075A>G (p.Ile359Val)	CAND2 (I266V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136948	NM_001162499.2(CAND2):c.1094C>T (p.Ser365Leu)	CAND2 (S272L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346257	NM_001162499.2(CAND2):c.1114G>A (p.Asp372Asn)	CAND2 (D279N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525053	NM_001162499.2(CAND2):c.1138G>A (p.Val380Met)	CAND2 (V287M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297564	NM_001162499.2(CAND2):c.1138G>C (p.Val380Leu)	CAND2 (V287L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136949	NM_001162499.2(CAND2):c.1148G>A (p.Arg383His)	CAND2 (R290H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407013	NM_001162499.2(CAND2):c.1204G>A (p.Val402Met)	CAND2 (V309M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297153	NM_001162499.2(CAND2):c.1247C>T (p.Ala416Val)	CAND2 (A323V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136950	NM_001162499.2(CAND2):c.1295G>A (p.Gly432Glu)	CAND2 (G432E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211080	NM_001162499.2(CAND2):c.1327C>T (p.Arg443Trp)	CAND2 (R443W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136951	NM_001162499.2(CAND2):c.1342C>G (p.Arg448Gly)	CAND2 (R448G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455771	NM_001162499.2(CAND2):c.1342C>T (p.Arg448Trp)	CAND2 (R355W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348377	NM_001162499.2(CAND2):c.1347C>G (p.Ser449Arg)	CAND2 (S356R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136952	NM_001162499.2(CAND2):c.1348G>A (p.Val450Ile)	CAND2 (V357I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2289749	NM_001162499.2(CAND2):c.1358G>T (p.Arg453Leu)	CAND2 (R360L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376687	NM_001162499.2(CAND2):c.1394G>A (p.Gly465Asp)	CAND2 (G372D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476320	NM_001162499.2(CAND2):c.1439C>T (p.Ser480Leu)	CAND2 (S480L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529960	NM_001162499.2(CAND2):c.1450T>A (p.Phe484Ile)	CAND2 (F391I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310775	NM_001162499.2(CAND2):c.1469C>G (p.Ser490Cys)	CAND2 (S397C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780376	NM_001162499.2(CAND2):c.1473C>T (p.Ser491=)	CAND2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3136953	NM_001162499.2(CAND2):c.1528G>A (p.Glu510Lys)	CAND2 (E417K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263117	NM_001162499.2(CAND2):c.1570C>T (p.Pro524Ser)	CAND2 (P431S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486073	NM_001162499.2(CAND2):c.1618G>A (p.Glu540Lys)	CAND2 (E447K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366112	NM_001162499.2(CAND2):c.1649G>A (p.Arg550Gln)	CAND2 (R457Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2399691	NM_001162499.2(CAND2):c.1661C>T (p.Pro554Leu)	CAND2 (P461L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263110	NM_001162499.2(CAND2):c.1664T>G (p.Leu555Arg)	CAND2 (L462R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136954	NM_001162499.2(CAND2):c.1670G>A (p.Arg557Lys)	CAND2 (R464K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219053	NM_001162499.2(CAND2):c.1675C>T (p.Arg559Trp)	CAND2 (R466W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243376	NM_001162499.2(CAND2):c.1768C>T (p.Arg590Trp)	CAND2 (R497W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263107	NM_001162499.2(CAND2):c.1813C>T (p.Arg605Trp)	CAND2 (R605W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263112	NM_001162499.2(CAND2):c.1814G>A (p.Arg605Gln)	CAND2 (R512Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410282	NM_001162499.2(CAND2):c.1834C>T (p.Pro612Ser)	CAND2 (P612S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136955	NM_001162499.2(CAND2):c.1838C>T (p.Thr613Met)	CAND2 (T613M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315583	NM_001162499.2(CAND2):c.1865G>A (p.Arg622Gln)	CAND2 (R529Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532206	NM_001162499.2(CAND2):c.1879C>T (p.Arg627Trp)	CAND2 (R534W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305284	NM_001162499.2(CAND2):c.1888G>A (p.Ala630Thr)	CAND2 (A537T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463321	NM_001162499.2(CAND2):c.1915G>A (p.Val639Ile)	CAND2 (V639I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512979	NM_001162499.2(CAND2):c.1949T>A (p.Leu650Gln)	CAND2 (L557Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338814	NM_001162499.2(CAND2):c.1978T>A (p.Phe660Ile)	CAND2 (F660I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408982	NM_001162499.2(CAND2):c.2006G>A (p.Arg669Gln)	CAND2 (R669Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606512	NM_001162499.2(CAND2):c.2015C>T (p.Thr672Ile)	CAND2 (T579I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3234324	NM_001162499.2(CAND2):c.2040C>T (p.Ala680=)	CAND2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2482940	NM_001162499.2(CAND2):c.2043G>C (p.Gln681His)	CAND2 (Q588H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252933	NM_001162499.2(CAND2):c.2045G>A (p.Ser682Asn)	CAND2 (S682N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653548	NM_001162499.2(CAND2):c.2112C>T (p.Asn704=)	CAND2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 778286	NM_001162499.2(CAND2):c.2126A>G (p.His709Arg)	CAND2 (H616R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2548595	NM_001162499.2(CAND2):c.2144T>C (p.Val715Ala)	CAND2 (V622A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136956	NM_001162499.2(CAND2):c.2164A>G (p.Thr722Ala)	CAND2 (T629A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328982	NM_001162499.2(CAND2):c.2224C>T (p.Arg742Trp)	CAND2 (R649W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263111	NM_001162499.2(CAND2):c.2237C>T (p.Ser746Leu)	CAND2 (S653L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521148	NM_001162499.2(CAND2):c.2276G>C (p.Gly759Ala)	CAND2 (G759A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392981	NM_001162499.2(CAND2):c.2302C>T (p.Arg768Cys)	CAND2 (R768C +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2473962	NM_001162499.2(CAND2):c.2323G>T (p.Ala775Ser)	CAND2 (A682S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371884	NM_001162499.2(CAND2):c.2348C>T (p.Ala783Val)	CAND2 (A690V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136957	NM_001162499.2(CAND2):c.2416C>T (p.Arg806Trp)	CAND2 (R806W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209214	NM_001162499.2(CAND2):c.2417G>A (p.Arg806Gln)	CAND2 (R713Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263120	NM_001162499.2(CAND2):c.2423T>C (p.Val808Ala)	CAND2 (V715A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136958	NM_001162499.2(CAND2):c.2429C>T (p.Ala810Val)	CAND2 (A717V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334125	NM_001162499.2(CAND2):c.2432T>C (p.Leu811Pro)	CAND2 (L718P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136959	NM_001162499.2(CAND2):c.2474G>A (p.Arg825His)	CAND2 (R732H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136960	NM_001162499.2(CAND2):c.2485G>A (p.Asp829Asn)	CAND2 (D736N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263108	NM_001162499.2(CAND2):c.2498C>T (p.Pro833Leu)	CAND2 (P833L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136961	NM_001162499.2(CAND2):c.2515G>C (p.Val839Leu)	CAND2 (V746L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602709	NM_001162499.2(CAND2):c.2651C>T (p.Ala884Val)	CAND2 (A791V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598062	NM_001162499.2(CAND2):c.2660G>A (p.Arg887His)	CAND2 (R887H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384619	NM_001162499.2(CAND2):c.2668G>A (p.Ala890Thr)	CAND2 (A797T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263116	NM_001162499.2(CAND2):c.2732A>G (p.Gln911Arg)	CAND2 (Q911R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555943	NM_001162499.2(CAND2):c.2773G>A (p.Ala925Thr)	CAND2 (A832T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372940	NM_001162499.2(CAND2):c.2831G>T (p.Arg944Leu)	CAND2 (R944L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398779	NM_001162499.2(CAND2):c.2842G>A (p.Ala948Thr)	CAND2 (A855T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136963	NM_001162499.2(CAND2):c.2858G>A (p.Arg953Gln)	CAND2 (R860Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231873	NM_001162499.2(CAND2):c.2893C>G (p.Leu965Val)	CAND2 (L872V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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