CSMD3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1153 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001173, LOC130001174 +1068 more	Copy number gain	See cases	GPathogenic
Select item 147345	GRCh38/hg38 8q23.3(chr8:111807430-112789029)x3	CSMD3, LOC126860474 +1 more	Copy number gain	See cases	GUncertain significance
Select item 3056930	NM_198123.2(CSMD3):c.11079G>A (p.Ala3693=)	CSMD3	Single nucleotide variant (synonymous variant)	CSMD3-related disorder	GBenign
Select item 2263188	NM_198123.2(CSMD3):c.11027C>T (p.Ala3676Val)	CSMD3 (A3507V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349651	NM_198123.2(CSMD3):c.10928T>C (p.Ile3643Thr)	CSMD3 (I3603T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078213	NM_198123.2(CSMD3):c.10897A>C (p.Ile3633Leu)	CSMD3 (I3433L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266726	NM_198123.2(CSMD3):c.10883G>A (p.Ser3628Asn)	CSMD3 (S3628N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060958	NM_198123.2(CSMD3):c.10861A>C (p.Asn3621His)	CSMD3 (N3421H +3 more)	Single nucleotide variant (missense variant)	CSMD3-related disorder	GBenign
Select item 2322618	NM_198123.2(CSMD3):c.10814G>A (p.Gly3605Asp)	CSMD3 (G3565D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658756	NM_198123.2(CSMD3):c.10740+7A>G	CSMD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3055454	NM_198123.2(CSMD3):c.10674T>C (p.Leu3558=)	CSMD3	Single nucleotide variant (synonymous variant)	CSMD3-related disorder	GBenign
Select item 2218043	NM_198123.2(CSMD3):c.10664G>A (p.Arg3555His)	CSMD3 (R3355H +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2321376	NM_198123.2(CSMD3):c.10610T>G (p.Met3537Arg)	CSMD3 (M3537R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310311	NM_198123.2(CSMD3):c.10609A>G (p.Met3537Val)	CSMD3 (M3368V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276072	NM_198123.2(CSMD3):c.10588G>A (p.Ala3530Thr)	CSMD3 (A3330T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269861	NM_198123.2(CSMD3):c.10521C>A (p.Phe3507Leu)	CSMD3 (F3307L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523738	NM_198123.2(CSMD3):c.10520T>C (p.Phe3507Ser)	CSMD3 (F3338S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038391	NM_198123.2(CSMD3):c.10463T>C (p.Leu3488Pro)	CSMD3 (L3288P +3 more)	Single nucleotide variant (missense variant)	CSMD3-related disorder	GBenign
Select item 2238330	NM_198123.2(CSMD3):c.10363T>G (p.Ser3455Ala)	CSMD3 (S3255A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487871	NM_198123.2(CSMD3):c.10321G>C (p.Gly3441Arg)	CSMD3 (G3441R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601367	NM_198123.2(CSMD3):c.10277A>T (p.Asp3426Val)	CSMD3 (D3426V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078211	NM_198123.2(CSMD3):c.10247C>T (p.Thr3416Ile)	CSMD3 (T3247I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619033	NM_198123.2(CSMD3):c.10239G>C (p.Gln3413His)	CSMD3 (Q3413H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051164	NM_198123.2(CSMD3):c.10143A>G (p.Lys3381=)	CSMD3	Single nucleotide variant (synonymous variant)	CSMD3-related disorder	GLikely benign
Select item 2407887	NM_198123.2(CSMD3):c.10117A>G (p.Ser3373Gly)	CSMD3 (S3333G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048612	NM_198123.2(CSMD3):c.10111-4A>G	CSMD3	Single nucleotide variant (intron variant)	CSMD3-related disorder	GLikely benign
Select item 718477	NM_198123.2(CSMD3):c.10101C>T (p.Phe3367=)	CSMD3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2217637	NM_198123.2(CSMD3):c.10093A>G (p.Asn3365Asp)	CSMD3 (N3365D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078210	NM_198123.2(CSMD3):c.10088A>C (p.Gln3363Pro)	CSMD3 (Q3163P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261568	NM_198123.2(CSMD3):c.9974G>A (p.Gly3325Glu)	CSMD3 (G3125E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288718	NM_198123.2(CSMD3):c.9943T>C (p.Phe3315Leu)	CSMD3 (F3146L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776374	NM_198123.2(CSMD3):c.9852G>A (p.Pro3284=)	CSMD3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2610390	NM_198123.2(CSMD3):c.9842G>A (p.Gly3281Asp)	CSMD3 (G3112D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269867	NM_198123.2(CSMD3):c.9790G>A (p.Glu3264Lys)	CSMD3 (E3095K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340871	NM_198123.2(CSMD3):c.9748G>A (p.Asp3250Asn)	CSMD3 (D3250N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785260	NM_198123.2(CSMD3):c.9732G>T (p.Leu3244=)	CSMD3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2265937	NM_198123.2(CSMD3):c.9709C>T (p.Pro3237Ser)	CSMD3 (P3068S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057178	NM_198123.2(CSMD3):c.9689-4G>T	CSMD3	Single nucleotide variant (intron variant)	CSMD3-related disorder	GBenign
Select item 2517019	NM_198123.2(CSMD3):c.9611C>T (p.Thr3204Met)	CSMD3 (T3164M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491108	NM_198123.2(CSMD3):c.9587C>T (p.Ser3196Phe)	CSMD3 (S3027F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078251	NM_198123.2(CSMD3):c.9554A>G (p.Tyr3185Cys)	CSMD3 (Y3016C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318599	NM_198123.2(CSMD3):c.9514A>T (p.Ser3172Cys)	CSMD3 (S2972C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225830	NM_198123.2(CSMD3):c.9368G>A (p.Gly3123Glu)	CSMD3 (G3083E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 737196	NM_198123.2(CSMD3):c.9331+9A>C	CSMD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2234127	NM_198123.2(CSMD3):c.9274G>A (p.Glu3092Lys)	CSMD3 (E3052K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3061006	NM_198123.2(CSMD3):c.9271T>C (p.Ser3091Pro)	CSMD3 (S2891P +3 more)	Single nucleotide variant (missense variant)	CSMD3-related disorder	GBenign
Select item 3078250	NM_198123.2(CSMD3):c.9209G>A (p.Ser3070Asn)	CSMD3 (S2870N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050146	NM_198123.2(CSMD3):c.9108A>G (p.Gln3036=)	CSMD3	Single nucleotide variant (synonymous variant)	CSMD3-related disorder	GLikely benign
Select item 2508902	NM_198123.2(CSMD3):c.9079C>T (p.Leu3027Phe)	CSMD3 (L2858F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078249	NM_198123.2(CSMD3):c.9074G>A (p.Arg3025His)	CSMD3 (R2856H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776375	NM_198123.2(CSMD3):c.8998G>C (p.Val3000Leu)	CSMD3 (V2831L +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2629932	NM_198123.2(CSMD3):c.8976G>A (p.Met2992Ile)	CSMD3 (M2792I +3 more)	Single nucleotide variant (missense variant)	CSMD3-related disorder	GUncertain significance
Select item 3269863	NM_198123.2(CSMD3):c.8909T>C (p.Phe2970Ser)	CSMD3 (F2801S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789770	NM_198123.2(CSMD3):c.8865C>T (p.Tyr2955=)	CSMD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3050633	NM_198123.2(CSMD3):c.8788+5A>G	CSMD3	Single nucleotide variant (intron variant)	CSMD3-related disorder	GLikely benign
Select item 3043856	NM_198123.2(CSMD3):c.8753A>C (p.Asn2918Thr)	CSMD3 (N2718T +3 more)	Single nucleotide variant (missense variant)	CSMD3-related disorder	GUncertain significance
Select item 3039597	NM_198123.2(CSMD3):c.8745C>T (p.Cys2915=)	CSMD3	Single nucleotide variant (synonymous variant)	CSMD3-related disorder	GLikely benign
Select item 2537705	NM_198123.2(CSMD3):c.8707A>G (p.Ile2903Val)	CSMD3 (I2863V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078248	NM_198123.2(CSMD3):c.8671T>G (p.Phe2891Val)	CSMD3 (F2722V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035574	NM_198123.2(CSMD3):c.8615-8C>T	CSMD3	Single nucleotide variant (intron variant)	CSMD3-related disorder	GLikely benign
Select item 774463	NM_198123.2(CSMD3):c.8604A>T (p.Pro2868=)	CSMD3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2384472	NM_198123.2(CSMD3):c.8602C>T (p.Pro2868Ser)	CSMD3 (P2828S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371875	NM_198123.2(CSMD3):c.8586T>A (p.Asn2862Lys)	CSMD3 (N2662K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546525	NM_198123.2(CSMD3):c.8501G>A (p.Gly2834Glu)	CSMD3 (G2794E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323610	NM_198123.2(CSMD3):c.8498A>G (p.Tyr2833Cys)	CSMD3 (Y2633C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335814	NM_198123.2(CSMD3):c.8444G>A (p.Gly2815Asp)	CSMD3 (G2615D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060861	NM_198123.2(CSMD3):c.8441-8T>C	CSMD3	Single nucleotide variant (intron variant)	CSMD3-related disorder	GBenign
Select item 3078247	NM_198123.2(CSMD3):c.8431A>G (p.Arg2811Gly)	CSMD3 (R2611G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269864	NM_198123.2(CSMD3):c.8408G>A (p.Gly2803Asp)	CSMD3 (G2603D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345871	NM_198123.2(CSMD3):c.8351C>G (p.Thr2784Ser)	CSMD3 (T2744S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078246	NM_198123.2(CSMD3):c.8339C>T (p.Thr2780Ile)	CSMD3 (T2780I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658757	NM_198123.2(CSMD3):c.8328A>G (p.Ser2776=)	CSMD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3049823	NM_198123.2(CSMD3):c.8313T>C (p.Ile2771=)	CSMD3	Single nucleotide variant (synonymous variant)	CSMD3-related disorder	GLikely benign
Select item 1342524	NM_198123.2(CSMD3):c.8282A>T (p.Glu2761Val)	CSMD3 (E2561V +3 more)	Single nucleotide variant (missense variant)	CSMD3-associated Hirschsprung disease +1 more	GUncertain significance
Select item 2475178	NM_198123.2(CSMD3):c.8254C>A (p.Pro2752Thr)	CSMD3 (P2552T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 785879	NM_198123.2(CSMD3):c.8190T>G (p.His2730Gln)	CSMD3 (H2530Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2303249	NM_198123.2(CSMD3):c.8155A>G (p.Thr2719Ala)	CSMD3 (T2679A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2496407	NM_198123.2(CSMD3):c.8002G>C (p.Glu2668Gln)	CSMD3 (E2564Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208195	NM_198123.2(CSMD3):c.7964C>A (p.Thr2655Asn)	CSMD3 (T2455N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338637	NM_198123.2(CSMD3):c.7940A>G (p.Asp2647Gly)	CSMD3 (D2447G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300581	NM_198123.2(CSMD3):c.7859G>T (p.Trp2620Leu)	CSMD3 (W2580L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211629	NM_198123.2(CSMD3):c.7761G>T (p.Gln2587His)	CSMD3 (Q2547H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380506	NM_198123.2(CSMD3):c.7754G>A (p.Gly2585Asp)	CSMD3 (G2385D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049763	NM_198123.2(CSMD3):c.7634T>C (p.Val2545Ala)	CSMD3 (V2345A +3 more)	Single nucleotide variant (missense variant)	CSMD3-related disorder	GUncertain significance
Select item 2492947	NM_198123.2(CSMD3):c.7582C>T (p.Leu2528Phe)	CSMD3 (L2424F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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