CELSR3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 3048844	NM_001407.3(CELSR3):c.*9C>T	CELSR3	Single nucleotide variant (3 prime UTR variant)	CELSR3-related disorder	GLikely benign
Select item 3057558	NM_001407.3(CELSR3):c.9912-8G>A	CELSR3	Single nucleotide variant (intron variant)	CELSR3-related disorder	GLikely benign
Select item 783378	NM_001407.3(CELSR3):c.9904G>C (p.Asp3302His)	CELSR3 (D3302H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 514123	NM_001407.3(CELSR3):c.9882C>T (p.His3294=)	CELSR3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 729309	NM_001407.3(CELSR3):c.9875C>T (p.Thr3292Met)	CELSR3 (T3292M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2535653	NM_001407.3(CELSR3):c.9868T>C (p.Ser3290Pro)	CELSR3 (S3290P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311221	NM_001407.3(CELSR3):c.9830C>T (p.Ser3277Phe)	CELSR3 (S3277F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770700	NM_001407.3(CELSR3):c.9827C>T (p.Pro3276Leu)	CELSR3 (P3276L)	Single nucleotide variant (missense variant)	CELSR3-related disorder +1 more	GBenign
Select item 3142128	NM_001407.3(CELSR3):c.9724C>G (p.Gln3242Glu)	CELSR3 (Q3242E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536003	NM_001407.3(CELSR3):c.9692T>C (p.Val3231Ala)	CELSR3 (V3231A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2272517	NM_001407.3(CELSR3):c.9689C>T (p.Ser3230Leu)	CELSR3 (S3230L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142127	NM_001407.3(CELSR3):c.9634C>A (p.Pro3212Thr)	CELSR3 (P3212T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388287	NM_001407.3(CELSR3):c.9629G>A (p.Arg3210Gln)	CELSR3 (R3210Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783379	NM_001407.3(CELSR3):c.9602G>A (p.Arg3201Gln)	CELSR3 (R3201Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3042664	NM_001407.3(CELSR3):c.9566G>A (p.Arg3189Gln)	CELSR3 (R3189Q)	Single nucleotide variant (missense variant)	Bladder exstrophy-epispadias-cloacal extrophy complex +1 more	GBenign/Likely benign
Select item 3142126	NM_001407.3(CELSR3):c.9488G>A (p.Arg3163Gln)	CELSR3 (R3163Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367834	NM_001407.3(CELSR3):c.9482G>A (p.Arg3161His)	CELSR3 (R3161H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517536	NM_001407.3(CELSR3):c.9481C>T (p.Arg3161Cys)	CELSR3 (R3161C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3051719	NM_001407.3(CELSR3):c.9478C>T (p.Arg3160Cys)	CELSR3 (R3160C)	Single nucleotide variant (missense variant)	CELSR3-related disorder	GLikely benign
Select item 3057638	NM_001407.3(CELSR3):c.9449G>A (p.Arg3150Gln)	CELSR3 (R3150Q)	Single nucleotide variant (missense variant)	CELSR3-related disorder	GLikely benign
Select item 3142125	NM_001407.3(CELSR3):c.9401T>A (p.Met3134Lys)	CELSR3 (M3134K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053810	NM_001407.3(CELSR3):c.9397G>A (p.Ala3133Thr)	CELSR3 (A3133T)	Single nucleotide variant (missense variant)	CELSR3-related disorder	GLikely benign
Select item 2312710	NM_001407.3(CELSR3):c.9382C>T (p.Arg3128Trp)	CELSR3 (R3128W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672067	NM_001407.3(CELSR3):c.9299G>C (p.Gly3100Ala)	CELSR3 (G3100A)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 3142124	NM_001407.3(CELSR3):c.9262G>A (p.Ala3088Thr)	CELSR3 (A3088T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 748012	NM_001407.3(CELSR3):c.9252A>G (p.Arg3084=)	CELSR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653796	NM_001407.3(CELSR3):c.9230G>A (p.Arg3077Gln)	CELSR3 (R3077Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2515175	NM_001407.3(CELSR3):c.9194G>A (p.Arg3065His)	CELSR3 (R3065H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479052	NM_001407.3(CELSR3):c.9193C>A (p.Arg3065Ser)	CELSR3 (R3065S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351187	NM_001407.3(CELSR3):c.9193C>T (p.Arg3065Cys)	CELSR3 (R3065C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 753908	NM_001407.3(CELSR3):c.9159C>T (p.Gly3053=)	CELSR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3142123	NM_001407.3(CELSR3):c.9145C>T (p.Arg3049Cys)	CELSR3 (R3049C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459405	NM_001407.3(CELSR3):c.9125T>C (p.Val3042Ala)	CELSR3 (V3042A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056301	NM_001407.3(CELSR3):c.9123T>A (p.Ala3041=)	CELSR3	Single nucleotide variant (synonymous variant)	CELSR3-related disorder	GBenign
Select item 801350	NM_001407.3(CELSR3):c.9098G>A (p.Arg3033His)	CELSR3 (R3033H)	Single nucleotide variant (missense variant)	Bladder exstrophy-epispadias-cloacal extrophy complex	GBenign
Select item 2543388	NM_001407.3(CELSR3):c.9097C>T (p.Arg3033Cys)	CELSR3 (R3033C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281100	NM_001407.3(CELSR3):c.9091T>G (p.Trp3031Gly)	CELSR3 (W3031G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460208	NM_001407.3(CELSR3):c.9070C>G (p.Arg3024Gly)	CELSR3 (R3024G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316446	NM_001407.3(CELSR3):c.9040C>T (p.Arg3014Trp)	CELSR3 (R3014W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212527	NM_001407.3(CELSR3):c.9005G>A (p.Arg3002Gln)	CELSR3 (R3002Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058807	NM_001407.3(CELSR3):c.8970G>A (p.Pro2990=)	CELSR3	Single nucleotide variant (synonymous variant)	CELSR3-related disorder	GLikely benign
Select item 3049314	NM_001407.3(CELSR3):c.8969C>G (p.Pro2990Arg)	CELSR3 (P2990R)	Single nucleotide variant (missense variant)	CELSR3-related disorder	GBenign
Select item 2475175	NM_001407.3(CELSR3):c.8940G>T (p.Lys2980Asn)	CELSR3 (K2980N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608090	NM_001407.3(CELSR3):c.8903G>C (p.Trp2968Ser)	CELSR3 (W2968S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 809483	NM_001407.3(CELSR3):c.8885C>G (p.Pro2962Arg)	CELSR3 (P2962R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2238841	NM_001407.3(CELSR3):c.8875G>A (p.Glu2959Lys)	CELSR3 (E2959K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318462	NM_001407.3(CELSR3):c.8837A>G (p.Asn2946Ser)	CELSR3 (N2946S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236355	NM_001407.3(CELSR3):c.8827G>A (p.Val2943Met)	CELSR3 (V2943M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1690326	NM_001407.3(CELSR3):c.8786G>T (p.Arg2929Leu)	CELSR3 (R2929L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1344624	NM_001407.3(CELSR3):c.8765G>A (p.Arg2922His)	CELSR3 (R2922H)	Single nucleotide variant (missense variant)	Tourette syndrome	GLikely risk allele
Select item 2672069	NM_001407.3(CELSR3):c.8758C>T (p.Arg2920Trp)	CELSR3 (R2920W)	Single nucleotide variant (missense variant)	See cases	GLikely benign
Select item 2359701	NM_001407.3(CELSR3):c.8756C>T (p.Thr2919Met)	CELSR3 (T2919M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653797	NM_001407.3(CELSR3):c.8753G>A (p.Arg2918Gln)	CELSR3 (R2918Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3142121	NM_001407.3(CELSR3):c.8752C>T (p.Arg2918Trp)	CELSR3 (R2918W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1176021	NM_001407.3(CELSR3):c.8658A>G (p.Arg2886=)	CELSR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2381126	NM_001407.3(CELSR3):c.8594A>G (p.His2865Arg)	CELSR3 (H2865R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 809484	NM_001407.3(CELSR3):c.8585C>T (p.Ala2862Val)	CELSR3 (A2862V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2604231	NM_001407.3(CELSR3):c.8573G>T (p.Arg2858Leu)	CELSR3 (R2858L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142120	NM_001407.3(CELSR3):c.8542C>T (p.Arg2848Cys)	CELSR3 (R2848C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218612	NM_001407.3(CELSR3):c.8536C>T (p.Arg2846Trp)	CELSR3 (R2846W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672074	NM_001407.3(CELSR3):c.8480C>A (p.Thr2827Asn)	CELSR3 (T2827N)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 2287441	NM_001407.3(CELSR3):c.8473G>A (p.Ala2825Thr)	CELSR3 (A2825T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783380	NM_001407.3(CELSR3):c.8472C>T (p.Gly2824=)	CELSR3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2490052	NM_001407.3(CELSR3):c.8461A>G (p.Ile2821Val)	CELSR3 (I2821V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278304	NM_001407.3(CELSR3):c.8435T>C (p.Leu2812Pro)	CELSR3 (L2812P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310727	NM_001407.3(CELSR3):c.8434C>T (p.Leu2812Phe)	CELSR3 (L2812F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033820	NM_001407.3(CELSR3):c.8375C>T (p.Ala2792Val)	CELSR3 (A2792V)	Single nucleotide variant (missense variant)	CELSR3-related disorder	GLikely benign
Select item 2472771	NM_001407.3(CELSR3):c.8365A>G (p.Arg2789Gly)	CELSR3 (R2789G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293692	NM_001407.3(CELSR3):c.8236A>C (p.Asn2746His)	CELSR3 (N2746H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045355	NM_001407.3(CELSR3):c.8165+7T>C	CELSR3, MIR4793	Single nucleotide variant (non-coding transcript variant +1 more)	CELSR3-related disorder	GLikely benign
Select item 2482060	NM_001407.3(CELSR3):c.8145G>T (p.Glu2715Asp)	CELSR3, MIR4793 (E2715D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3032137	NM_001407.3(CELSR3):c.8086-5T>G	CELSR3	Single nucleotide variant (intron variant)	CELSR3-related disorder	GLikely benign
Select item 2672060	NM_001407.3(CELSR3):c.7999G>A (p.Gly2667Ser)	CELSR3 (G2667S)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 775867	NM_001407.3(CELSR3):c.7954G>A (p.Val2652Ile)	CELSR3 (V2652I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 870894	NM_001407.3(CELSR3):c.7928G>A (p.Arg2643His)	CELSR3 (R2643H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2365947	NM_001407.3(CELSR3):c.7921G>A (p.Ala2641Thr)	CELSR3 (A2641T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357669	NM_001407.3(CELSR3):c.7915C>T (p.Arg2639Cys)	CELSR3 (R2639C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142118	NM_001407.3(CELSR3):c.7904G>A (p.Arg2635His)	CELSR3 (R2635H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 40229	NM_001407.3(CELSR3):c.7890G>A (p.Met2630Ile)	CELSR3 (M2630I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3142117	NM_001407.3(CELSR3):c.7885C>T (p.Arg2629Cys)	CELSR3 (R2629C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253970	NM_001407.3(CELSR3):c.7883A>C (p.Tyr2628Ser)	CELSR3 (Y2628S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035439	NM_001407.3(CELSR3):c.7854G>A (p.Ala2618=)	CELSR3	Single nucleotide variant (synonymous variant)	CELSR3-related disorder	GLikely benign
Select item 1344622	NM_001407.3(CELSR3):c.7853C>T (p.Ala2618Val)	CELSR3 (A2618V)	Single nucleotide variant (missense variant)	Tourette syndrome	GLikely risk allele
Select item 3044428	NM_001407.3(CELSR3):c.7836C>T (p.Phe2612=)	CELSR3	Single nucleotide variant (synonymous variant)	CELSR3-related disorder	GLikely benign
Select item 3142116	NM_001407.3(CELSR3):c.7801G>A (p.Val2601Met)	CELSR3 (V2601M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056375	NM_001407.3(CELSR3):c.7728C>A (p.Ala2576=)	CELSR3	Single nucleotide variant (synonymous variant)	CELSR3-related disorder	GLikely benign
Select item 2404484	NM_001407.3(CELSR3):c.7715G>A (p.Arg2572His)	CELSR3 (R2572H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329454	NM_001407.3(CELSR3):c.7691T>C (p.Leu2564Pro)	CELSR3 (L2564P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142114	NM_001407.3(CELSR3):c.7669A>T (p.Thr2557Ser)	CELSR3 (T2557S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528878	NM_001407.3(CELSR3):c.7630C>T (p.His2544Tyr)	CELSR3 (H2544Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333546	NM_001407.3(CELSR3):c.7513A>G (p.Arg2505Gly)	CELSR3 (R2505G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672064	NM_001407.3(CELSR3):c.7501G>A (p.Glu2501Lys)	CELSR3 (E2501K)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 3142113	NM_001407.3(CELSR3):c.7493G>A (p.Arg2498Gln)	CELSR3 (R2498Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557236	NM_001407.3(CELSR3):c.7480G>T (p.Val2494Leu)	CELSR3 (V2494L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672068	NM_001407.3(CELSR3):c.7423C>T (p.Arg2475Trp)	CELSR3 (R2475W)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 1176022	NM_001407.3(CELSR3):c.7395A>G (p.Leu2465=)	CELSR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 713901	NM_001407.3(CELSR3):c.7351G>A (p.Gly2451Arg)	CELSR3 (G2451R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2653798	NM_001407.3(CELSR3):c.7312G>A (p.Val2438Ile)	CELSR3 (V2438I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2243704	NM_001407.3(CELSR3):c.7301C>T (p.Pro2434Leu)	CELSR3 (P2434L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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