CACNA2D3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic
Select item 155564	GRCh38/hg38 3p21.2-14.3(chr3:51394434-55064449)x1	ABHD14A, ABHD14A-ACY1 +197 more	Copy number loss	See cases	GLikely pathogenic
Select item 60057	GRCh38/hg38 3p21.1-14.3(chr3:53287477-57025368)x1	ACTR8, ARHGEF3 +53 more	Copy number loss	See cases	GUncertain significance
Select item 57386	GRCh38/hg38 3p21.1-14.1(chr3:54045018-66060461)x1	ABHD6, ACOX2 +217 more	Copy number loss	See cases	GPathogenic
Select item 972985	NM_018398.3(CACNA2D3):c.25_29del (p.Arg9fs)	CACNA2D3 (R9fs)	Microsatellite (frameshift variant)	not provided	Gnot provided
Select item 2410097	NM_018398.3(CACNA2D3):c.40G>A (p.Ala14Thr)	CACNA2D3 (A14T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324636	NM_018398.3(CACNA2D3):c.77C>T (p.Ala26Val)	CACNA2D3 (A26V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619228	NM_018398.3(CACNA2D3):c.145T>C (p.Phe49Leu)	CACNA2D3 (F49L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360686	NM_018398.3(CACNA2D3):c.170C>T (p.Ala57Val)	CACNA2D3 (A57V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347546	NM_018398.3(CACNA2D3):c.173C>T (p.Ala58Val)	CACNA2D3 (A58V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217097	NM_018398.3(CACNA2D3):c.192G>C (p.Gln64His)	CACNA2D3 (Q64H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 148328	GRCh38/hg38 3p21.1(chr3:54216287-54346411)x1	CACNA2D3	Copy number loss	See cases	GLikely benign
Select item 2631398	NM_018398.3(CACNA2D3):c.225dup (p.Asp76fs)	CACNA2D3 (D76fs)	Duplication (frameshift variant)	CACNA2D3-related condition	GUncertain significance
Select item 769229	NM_018398.3(CACNA2D3):c.246= (p.Ile82=)	CACNA2D3	Variation (no sequence alteration)	not provided	GBenign
Select item 2454627	NM_018398.3(CACNA2D3):c.316G>A (p.Val106Ile)	CACNA2D3 (V106I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 152388	GRCh38/hg38 3p21.1-14.3(chr3:54326299-54496558)x1	CACNA2D3	Copy number loss	See cases	GUncertain significance
Select item 148212	GRCh38/hg38 3p21.1-14.3(chr3:54331657-54477137)x1	CACNA2D3	Copy number loss	See cases	GLikely benign
Select item 3033751	NM_018398.3(CACNA2D3):c.322-7_322-3dup	CACNA2D3	Duplication (intron variant)	CACNA2D3-related condition	GLikely benign
Select item 2210597	NM_018398.3(CACNA2D3):c.328G>A (p.Val110Met)	CACNA2D3 (V110M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477626	NM_018398.3(CACNA2D3):c.579A>C (p.Glu193Asp)	CACNA2D3 (E193D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411270	NM_018398.3(CACNA2D3):c.598G>A (p.Val200Ile)	CACNA2D3 (V200I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325895	NM_018398.3(CACNA2D3):c.649G>A (p.Ala217Thr)	CACNA2D3 (A217T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1269269	NM_018398.3(CACNA2D3):c.676+9A>C	CACNA2D3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3034458	NM_018398.3(CACNA2D3):c.678G>T (p.Gly226=)	CACNA2D3	Single nucleotide variant (synonymous variant)	CACNA2D3-related condition	GLikely benign
Select item 2295026	NM_018398.3(CACNA2D3):c.729C>A (p.Asn243Lys)	CACNA2D3 (N243K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231714	NM_018398.3(CACNA2D3):c.908A>C (p.Tyr303Ser)	CACNA2D3 (Y303S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3049724	NM_018398.3(CACNA2D3):c.933T>G (p.Thr311=)	CACNA2D3	Single nucleotide variant (synonymous variant)	CACNA2D3-related condition	GBenign
Select item 2483597	NM_018398.3(CACNA2D3):c.949A>G (p.Arg317Gly)	CACNA2D3 (R317G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364245	NM_018398.3(CACNA2D3):c.1018A>G (p.Ile340Val)	CACNA2D3 (I340V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3048003	NM_018398.3(CACNA2D3):c.1040A>G (p.Asn347Ser)	CACNA2D3 (N347S)	Single nucleotide variant (missense variant)	CACNA2D3-related condition	GUncertain significance
Select item 2521906	NM_018398.3(CACNA2D3):c.1115C>T (p.Ala372Val)	CACNA2D3 (A372V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309178	NM_018398.3(CACNA2D3):c.1141G>A (p.Ala381Thr)	CACNA2D3 (A381T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 153997	GRCh38/hg38 3p14.3(chr3:54728779-54780521)x1	CACNA2D3	Copy number loss	See cases	GUncertain significance
Select item 2210232	NM_018398.3(CACNA2D3):c.1285G>C (p.Glu429Gln)	CACNA2D3 (E429Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490844	NM_018398.3(CACNA2D3):c.1319G>A (p.Arg440Gln)	CACNA2D3 (R440Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388555	NM_018398.3(CACNA2D3):c.1333G>A (p.Asp445Asn)	CACNA2D3 (D445N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3033593	NM_018398.3(CACNA2D3):c.1398+8C>T	CACNA2D3	Single nucleotide variant (intron variant)	CACNA2D3-related condition	GLikely benign
Select item 3043620	NM_018398.3(CACNA2D3):c.1399-7C>T	CACNA2D3	Single nucleotide variant (intron variant)	CACNA2D3-related condition	GBenign
Select item 2549787	NM_018398.3(CACNA2D3):c.1402A>G (p.Thr468Ala)	CACNA2D3 (T468A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2469702	NM_018398.3(CACNA2D3):c.1405G>C (p.Asp469His)	CACNA2D3 (D469H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3036480	NM_018398.3(CACNA2D3):c.1419C>T (p.Pro473=)	CACNA2D3	Single nucleotide variant (synonymous variant)	CACNA2D3-related condition	GLikely benign
Select item 2630323	NM_018398.3(CACNA2D3):c.1442T>A (p.Met481Lys)	CACNA2D3 (M481K)	Single nucleotide variant (missense variant)	CACNA2D3-related condition	GUncertain significance
Select item 2218947	NM_018398.3(CACNA2D3):c.1556G>A (p.Gly519Glu)	CACNA2D3 (G519E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3058397	NM_018398.3(CACNA2D3):c.1627-9C>G	CACNA2D3	Single nucleotide variant (intron variant)	CACNA2D3-related condition	GLikely benign
Select item 3033322	NM_018398.3(CACNA2D3):c.1629C>T (p.Tyr543=)	CACNA2D3	Single nucleotide variant (synonymous variant)	CACNA2D3-related condition	GBenign
Select item 2596557	NM_018398.3(CACNA2D3):c.1700G>A (p.Arg567Gln)	CACNA2D3 (R567Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3037580	NM_018398.3(CACNA2D3):c.1783-10_1783-9del	CACNA2D3, CACNA2D3-AS1	Deletion (intron variant)	CACNA2D3-related condition	GBenign
Select item 2635505	NM_018398.3(CACNA2D3):c.1870C>A (p.His624Asn)	CACNA2D3, CACNA2D3-AS1 (H624N)	Single nucleotide variant (missense variant)	CACNA2D3-related condition	GUncertain significance
Select item 2488758	NM_018398.3(CACNA2D3):c.2023C>G (p.Leu675Val)	CACNA2D3, CACNA2D3-AS1 (L675V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488623	NM_018398.3(CACNA2D3):c.2083C>T (p.Leu695Phe)	CACNA2D3, CACNA2D3-AS1 (L695F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267899	NM_018398.3(CACNA2D3):c.2087T>G (p.Phe696Cys)	CACNA2D3, CACNA2D3-AS1 (F696C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3053454	NM_018398.3(CACNA2D3):c.2091C>T (p.Asp697=)	CACNA2D3, CACNA2D3-AS1	Single nucleotide variant (synonymous variant)	CACNA2D3-related condition	GLikely benign
Select item 2407053	NM_018398.3(CACNA2D3):c.2099T>C (p.Val700Ala)	CACNA2D3-AS1, CACNA2D3 (V700A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2633138	NM_018398.3(CACNA2D3):c.2104G>A (p.Ala702Thr)	CACNA2D3, CACNA2D3-AS1 (A702T)	Single nucleotide variant (missense variant)	CACNA2D3-related condition	GUncertain significance
Select item 2274252	NM_018398.3(CACNA2D3):c.2185G>A (p.Gly729Ser)	CACNA2D3-AS1, CACNA2D3 (G729S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 773444	NM_018398.3(CACNA2D3):c.2195C>T (p.Thr732Met)	CACNA2D3-AS1, CACNA2D3 (T732M)	Single nucleotide variant (missense variant)	CACNA2D3-related condition +1 more	GBenign
Select item 2259441	NM_018398.3(CACNA2D3):c.2216T>C (p.Leu739Pro)	CACNA2D3, CACNA2D3-AS1 (L739P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475747	NM_018398.3(CACNA2D3):c.2218T>C (p.Phe740Leu)	CACNA2D3, CACNA2D3-AS1 (F740L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304462	NM_018398.3(CACNA2D3):c.2233C>G (p.Gln745Glu)	CACNA2D3, CACNA2D3-AS1 (Q745E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543545	NM_018398.3(CACNA2D3):c.2266G>A (p.Asp756Asn)	CACNA2D3, CACNA2D3-AS1 (D756N)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3058065	NM_018398.3(CACNA2D3):c.2286C>T (p.Asn762=)	CACNA2D3, CACNA2D3-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	CACNA2D3-related condition	GLikely benign
Select item 3030915	NM_018398.3(CACNA2D3):c.2293C>T (p.His765Tyr)	CACNA2D3, CACNA2D3-AS1 (H765Y)	Single nucleotide variant (non-coding transcript variant +1 more)	CACNA2D3-related condition	GUncertain significance
Select item 2653905	NM_018398.3(CACNA2D3):c.2304C>G (p.Leu768=)	CACNA2D3, CACNA2D3-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2527206	NM_018398.3(CACNA2D3):c.2422G>A (p.Asp808Asn)	CACNA2D3, CACNA2D3-AS1 (D808N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3038777	NM_018398.3(CACNA2D3):c.2426A>G (p.Glu809Gly)	CACNA2D3, CACNA2D3-AS1 (E809G)	Single nucleotide variant (missense variant)	CACNA2D3-related condition	GLikely benign
Select item 767916	NM_018398.3(CACNA2D3):c.2449+18617_2449+18618del	CACNA2D3, LRTM1 (E262fs +1 more)	Microsatellite (frameshift variant +1 more)	not provided	GLikely benign
Select item 784010	NM_020678.4(LRTM1):c.880G>A (p.Val294Ile)	CACNA2D3, LRTM1 (V218I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2203843	NM_020678.4(LRTM1):c.872T>C (p.Ile291Thr)	CACNA2D3, LRTM1 (I215T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2459749	NM_020678.4(LRTM1):c.848G>A (p.Arg283His)	CACNA2D3, LRTM1 (R207H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 791931	NM_020678.4(LRTM1):c.797G>T (p.Arg266Leu)	CACNA2D3, LRTM1 (R266L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 709209	NM_020678.4(LRTM1):c.793G>C (p.Glu265Gln)	CACNA2D3, LRTM1 (E265Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2374178	NM_020678.4(LRTM1):c.583C>G (p.Leu195Val)	LRTM1, CACNA2D3 (L119V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2266738	NM_020678.4(LRTM1):c.491C>T (p.Ala164Val)	LRTM1, CACNA2D3 (A164V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 738018	NM_020678.4(LRTM1):c.487C>T (p.Arg163Ter)	CACNA2D3, LRTM1 (R163* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GBenign
Select item 2624282	NM_020678.4(LRTM1):c.482T>C (p.Leu161Pro)	CACNA2D3, LRTM1 (L161P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2591971	NM_020678.4(LRTM1):c.448A>G (p.Ile150Val)	LRTM1, CACNA2D3 (I150V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2514172	NM_020678.4(LRTM1):c.379C>T (p.Leu127Phe)	CACNA2D3, LRTM1 (L51F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2280941	NM_020678.4(LRTM1):c.377A>G (p.Glu126Gly)	CACNA2D3, LRTM1 (E126G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2620869	NM_020678.4(LRTM1):c.248A>T (p.Asn83Ile)	CACNA2D3, LRTM1 (N7I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 726284	NM_020678.4(LRTM1):c.191del (p.His64fs)	CACNA2D3, LRTM1 (H64fs)	Deletion (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2510799	NM_020678.4(LRTM1):c.183G>C (p.Gln61His)	CACNA2D3, LRTM1 (Q61H)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2268132	NM_018398.3(CACNA2D3):c.2536T>C (p.Ser846Pro)	CACNA2D3 (S846P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1690996	NM_018398.3(CACNA2D3):c.2620-4A>G	CACNA2D3	Single nucleotide variant (intron variant)	See cases	GUncertain significance
Select item 3053166	NM_018398.3(CACNA2D3):c.2622T>C (p.Thr874=)	CACNA2D3	Single nucleotide variant (synonymous variant)	CACNA2D3-related condition	GLikely benign
Select item 2377481	NM_018398.3(CACNA2D3):c.2730C>A (p.Asn910Lys)	CACNA2D3 (N910K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3041577	NM_018398.3(CACNA2D3):c.2742C>T (p.Ser914=)	CACNA2D3	Single nucleotide variant (synonymous variant)	CACNA2D3-related condition	GLikely benign
Select item 2316860	NM_018398.3(CACNA2D3):c.2743G>A (p.Asp915Asn)	CACNA2D3 (D915N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610465	NM_018398.3(CACNA2D3):c.2786C>T (p.Ser929Phe)	CACNA2D3 (S929F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2635319	NM_018398.3(CACNA2D3):c.2812C>T (p.Leu938Phe)	CACNA2D3 (L938F)	Single nucleotide variant (missense variant)	CACNA2D3-related condition	GUncertain significance
Select item 3037908	NM_018398.3(CACNA2D3):c.2820-4T>C	CACNA2D3	Single nucleotide variant (intron variant)	CACNA2D3-related condition	GLikely benign
Select item 3055926	NM_018398.3(CACNA2D3):c.2820G>T (p.Leu940Phe)	CACNA2D3 (L940F)	Single nucleotide variant (missense variant)	CACNA2D3-related condition	GLikely benign
Select item 3040609	NM_018398.3(CACNA2D3):c.2845A>G (p.Ser949Gly)	CACNA2D3 (S949G)	Single nucleotide variant (missense variant)	CACNA2D3-related condition	GLikely benign
Select item 2276034	NM_018398.3(CACNA2D3):c.2860G>A (p.Asp954Asn)	CACNA2D3 (D954N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2631925	NM_018398.3(CACNA2D3):c.2948A>G (p.Lys983Arg)	CACNA2D3 (K983R)	Single nucleotide variant (missense variant)	CACNA2D3-related condition	GUncertain significance
Select item 2237037	NM_018398.3(CACNA2D3):c.3017G>A (p.Ser1006Asn)	CACNA2D3 (S1006N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 585119	NM_018398.3(CACNA2D3):c.3071C>T (p.Pro1024Leu)	CACNA2D3 (P1024L)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 2366092	NM_018398.3(CACNA2D3):c.3073A>G (p.Ile1025Val)	CACNA2D3 (I1025V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538842	NM_018398.3(CACNA2D3):c.3151C>T (p.Arg1051Cys)	CACNA2D3 (R1051C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1221991	NM_018398.3(CACNA2D3):c.3192A>G (p.Ala1064=)	CACNA2D3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 713903	NM_018398.3(CACNA2D3):c.3210G>A (p.Ala1070=)	CACNA2D3	Single nucleotide variant (synonymous variant)	not provided	GBenign

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