CSMD2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC112577491, LOC112577504 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LOC129929733, LOC129929734 +1145 more	Copy number gain	See cases	GPathogenic
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 145637	GRCh38/hg38 1p35.1(chr1:33411353-33916406)x3	CSMD2, CSMD2-AS1 +10 more	Copy number gain	See cases	GUncertain significance
Select item 2290389	NM_001281956.2(CSMD2):c.10863G>C (p.Glu3621Asp)	CSMD2 (E3477D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539097	NM_001281956.2(CSMD2):c.10853G>C (p.Ser3618Thr)	CSMD2 (S3474T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2588332	NM_001281956.2(CSMD2):c.10819G>A (p.Asp3607Asn)	CSMD2 (D3607N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269731	NM_001281956.2(CSMD2):c.10796C>T (p.Ala3599Val)	CSMD2 (A3455V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508932	NM_001281956.2(CSMD2):c.10751T>A (p.Val3584Asp)	CSMD2 (V3440D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078152	NM_001281956.2(CSMD2):c.10739G>C (p.Arg3580Thr)	CSMD2 (R3436T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372146	NM_001281956.2(CSMD2):c.10648T>G (p.Ser3550Ala)	CSMD2 (S3406A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239598	NM_001281956.2(CSMD2):c.10582G>A (p.Gly3528Ser)	CSMD2 (G3528S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257412	NM_001281956.2(CSMD2):c.10580T>C (p.Phe3527Ser)	CSMD2 (F3383S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608772	NM_001281956.2(CSMD2):c.10574G>A (p.Gly3525Glu)	CSMD2 (G3381E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269836	NM_001281956.2(CSMD2):c.10468A>G (p.Met3490Val)	CSMD2 (M3490V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2269201	NM_001281956.2(CSMD2):c.10456G>A (p.Val3486Met)	CSMD2 (V3486M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269847	NM_001281956.2(CSMD2):c.10421A>G (p.His3474Arg)	CSMD2 (H3474R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269832	NM_001281956.2(CSMD2):c.10357A>T (p.Thr3453Ser)	CSMD2 (T3453S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078209	NM_001281956.2(CSMD2):c.10333G>T (p.Val3445Phe)	CSMD2 (V3445F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607755	NM_001281956.2(CSMD2):c.10300C>A (p.Gln3434Lys)	CSMD2 (Q3290K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274587	NM_001281956.2(CSMD2):c.10292G>A (p.Gly3431Glu)	CSMD2 (G3431E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078208	NM_001281956.2(CSMD2):c.10240G>T (p.Gly3414Trp)	CSMD2 (G3270W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526612	NM_001281956.2(CSMD2):c.10211A>C (p.Glu3404Ala)	CSMD2 (E3404A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511598	NM_001281956.2(CSMD2):c.10207C>T (p.Arg3403Trp)	CSMD2 (R3259W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638623	NM_001281956.2(CSMD2):c.10178G>A (p.Arg3393Gln)	CSMD2 (R3249Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2638624	NM_001281956.2(CSMD2):c.10023G>A (p.Thr3341=)	CSMD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2374325	NM_001281956.2(CSMD2):c.10022C>T (p.Thr3341Met)	CSMD2 (T3197M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369560	NM_001281956.2(CSMD2):c.10016C>T (p.Thr3339Met)	CSMD2 (T3339M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404833	NM_001281956.2(CSMD2):c.9974C>A (p.Thr3325Asn)	CSMD2 (T3325N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078207	NM_001281956.2(CSMD2):c.9870G>C (p.Gln3290His)	CSMD2 (Q3290H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078206	NM_001281956.2(CSMD2):c.9710C>T (p.Ser3237Phe)	CSMD2 (S3237F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524575	NM_001281956.2(CSMD2):c.9694T>C (p.Tyr3232His)	CSMD2 (Y3088H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346998	NM_001281956.2(CSMD2):c.9679G>A (p.Asp3227Asn)	CSMD2 (D3227N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590898	NM_001281956.2(CSMD2):c.9643G>A (p.Gly3215Arg)	CSMD2 (G3071R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595223	NM_001281956.2(CSMD2):c.9502G>T (p.Val3168Leu)	CSMD2 (V3024L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383022	NM_001281956.2(CSMD2):c.9491A>G (p.Asn3164Ser)	CSMD2 (N3020S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267644	NM_001281956.2(CSMD2):c.9448G>T (p.Val3150Phe)	CSMD2 (V3150F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638625	NM_001281956.2(CSMD2):c.9375C>T (p.Gly3125=)	CSMD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3078202	NM_001281956.2(CSMD2):c.9330T>A (p.Asn3110Lys)	CSMD2 (N2966K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391391	NM_001281956.2(CSMD2):c.9314G>T (p.Gly3105Val)	CSMD2 (G3105V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393881	NM_001281956.2(CSMD2):c.9236C>T (p.Ser3079Leu)	CSMD2 (S2935L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333437	NM_001281956.2(CSMD2):c.9212C>T (p.Thr3071Ile)	CSMD2 (T2927I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301019	NM_001281956.2(CSMD2):c.9181G>T (p.Val3061Phe)	CSMD2 (V2917F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522539	NM_001281956.2(CSMD2):c.9079G>A (p.Gly3027Ser)	CSMD2 (G2883S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269848	NM_001281956.2(CSMD2):c.9053C>T (p.Thr3018Ile)	CSMD2 (T2874I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770486	NM_001281956.2(CSMD2):c.9045A>C (p.Ser3015=)	CSMD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3269839	NM_001281956.2(CSMD2):c.9035G>A (p.Arg3012Gln)	CSMD2 (R2868Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217748	NM_001281956.2(CSMD2):c.9028G>A (p.Val3010Met)	CSMD2 (V2866M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078199	NM_001281956.2(CSMD2):c.9011G>T (p.Ser3004Ile)	CSMD2 (S2860I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519885	NM_001281956.2(CSMD2):c.9005G>A (p.Arg3002His)	CSMD2 (R3002H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476167	NM_001281956.2(CSMD2):c.8969G>C (p.Arg2990Pro)	CSMD2 (R2990P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078198	NM_001281956.2(CSMD2):c.8938G>A (p.Gly2980Ser)	CSMD2 (G2980S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078197	NM_001281956.2(CSMD2):c.8846C>T (p.Thr2949Ile)	CSMD2 (T2805I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553503	NM_001281956.2(CSMD2):c.8836G>A (p.Gly2946Ser)	CSMD2 (G2802S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 57241	GRCh38/hg38 1p35.1-34.3(chr1:33564892-34725930)x3	C1orf94, CSMD2 +14 more	Copy number gain	See cases	GUncertain significance
Select item 2271026	NM_001281956.2(CSMD2):c.8378T>G (p.Val2793Gly)	CSMD2 (V2770G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301367	NM_001281956.2(CSMD2):c.8273G>A (p.Arg2758Gln)	CSMD2 (R2735Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253362	NM_001281956.2(CSMD2):c.8056T>C (p.Tyr2686His)	CSMD2 (Y2686H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078196	NM_001281956.2(CSMD2):c.8023G>C (p.Gly2675Arg)	CSMD2 (G2675R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078195	NM_001281956.2(CSMD2):c.8000G>T (p.Arg2667Leu)	CSMD2 (R2667L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380420	NM_001281956.2(CSMD2):c.7988C>G (p.Pro2663Arg)	CSMD2 (P2665R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600301	NM_001281956.2(CSMD2):c.7933G>A (p.Gly2645Arg)	CSMD2 (G2647R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515812	NM_001281956.2(CSMD2):c.7828A>C (p.Thr2610Pro)	CSMD2 (T2610P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161791	NM_001281956.2(CSMD2):c.7808G>T (p.Arg2603Leu)	CSMD2 (R2605L +1 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 2261446	NM_001281956.2(CSMD2):c.7795G>A (p.Val2599Met)	CSMD2 (V2599M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078194	NM_001281956.2(CSMD2):c.7738C>T (p.Arg2580Cys)	CSMD2 (R2582C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078193	NM_001281956.2(CSMD2):c.7721C>T (p.Thr2574Ile)	CSMD2 (T2576I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547924	NM_001281956.2(CSMD2):c.7720A>G (p.Thr2574Ala)	CSMD2 (T2574A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078192	NM_001281956.2(CSMD2):c.7667G>A (p.Ser2556Asn)	CSMD2 (S2556N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256059	NM_001281956.2(CSMD2):c.7646C>A (p.Thr2549Asn)	CSMD2 (T2549N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263189	NM_001281956.2(CSMD2):c.7535A>G (p.Gln2512Arg)	CSMD2 (Q2512R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383021	NM_001281956.2(CSMD2):c.7486G>A (p.Gly2496Ser)	CSMD2 (G2498S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078191	NM_001281956.2(CSMD2):c.7481A>G (p.Asn2494Ser)	CSMD2 (N2496S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269828	NM_001281956.2(CSMD2):c.7453C>A (p.Pro2485Thr)	CSMD2 (P2485T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269843	NM_001281956.2(CSMD2):c.7435G>A (p.Gly2479Ser)	CSMD2 (G2481S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078190	NM_001281956.2(CSMD2):c.7415C>T (p.Pro2472Leu)	CSMD2 (P2474L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402018	NM_001281956.2(CSMD2):c.7334G>A (p.Arg2445His)	CSMD2 (R2447H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232974	NM_001281956.2(CSMD2):c.7300A>G (p.Ile2434Val)	CSMD2 (I2436V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269855	NM_001281956.2(CSMD2):c.7295C>A (p.Pro2432His)	CSMD2 (P2434H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322679	NM_001281956.2(CSMD2):c.7093G>A (p.Val2365Met)	CSMD2 (V2367M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546414	NM_001281956.2(CSMD2):c.7054C>T (p.His2352Tyr)	CSMD2 (H2354Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521500	NM_001281956.2(CSMD2):c.7036C>T (p.Pro2346Ser)	CSMD2 (P2346S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681215	NM_001281956.2(CSMD2):c.6942C>A (p.Asp2314Glu)	CSMD2 (D2314E +1 more)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 3078189	NM_001281956.2(CSMD2):c.6941A>T (p.Asp2314Val)	CSMD2 (D2316V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465455	NM_001281956.2(CSMD2):c.6910G>A (p.Val2304Ile)	CSMD2 (V2306I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207789	NM_001281956.2(CSMD2):c.6907G>T (p.Val2303Phe)	CSMD2 (V2305F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269841	NM_001281956.2(CSMD2):c.6857C>G (p.Ala2286Gly)	CSMD2 (A2286G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269837	NM_001281956.2(CSMD2):c.6830G>C (p.Gly2277Ala)	CSMD2 (G2279A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591694	NM_001281956.2(CSMD2):c.6830G>T (p.Gly2277Val)	CSMD2 (G2277V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638626	NM_001281956.2(CSMD2):c.6755G>A (p.Arg2252Gln)	CSMD2 (R2252Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2336707	NM_001281956.2(CSMD2):c.6700A>G (p.Ile2234Val)	CSMD2 (I2234V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349360	NM_001281956.2(CSMD2):c.6655C>T (p.Arg2219Cys)	CSMD2 (R2221C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361872	NM_001281956.2(CSMD2):c.6641T>C (p.Ile2214Thr)	CSMD2 (I2214T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247170	NM_001281956.2(CSMD2):c.6637C>T (p.Pro2213Ser)	CSMD2 (P2213S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334410	NM_001281956.2(CSMD2):c.6563A>C (p.Asn2188Thr)	CSMD2 (N2188T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525424	NM_001281956.2(CSMD2):c.6544G>A (p.Gly2182Arg)	CSMD2 (G2182R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638627	NM_001281956.2(CSMD2):c.6543C>T (p.Gly2181=)	CSMD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2334881	NM_001281956.2(CSMD2):c.6446C>T (p.Pro2149Leu)	CSMD2, LOC126805691 (P2149L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269846	NM_001281956.2(CSMD2):c.6427G>C (p.Val2143Leu)	CSMD2, LOC126805691 (V2143L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078187	NM_001281956.2(CSMD2):c.6389G>C (p.Gly2130Ala)	LOC126805691, CSMD2 (G2130A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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