Related gene-specific medical variations for Gene (Select 55799) - ClinVar

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Links from Gene

Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3292127	NM_020678.4(LRTM1):c.110G>T (p.Ser37Ile)	CACNA2D3, LRTM1 (S37I)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3292126	NM_020678.4(LRTM1):c.623T>C (p.Ile208Thr)	CACNA2D3, LRTM1 (I132T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3292124	NM_020678.4(LRTM1):c.189C>G (p.His63Gln)	CACNA2D3, LRTM1 (H63Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3292123	NM_020678.4(LRTM1):c.660C>A (p.Asp220Glu)	CACNA2D3, LRTM1 (D220E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3292122	NM_020678.4(LRTM1):c.739C>T (p.Pro247Ser)	CACNA2D3, LRTM1 (P247S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3292121	NM_020678.4(LRTM1):c.491C>A (p.Ala164Glu)	CACNA2D3, LRTM1 (A164E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3292120	NM_020678.4(LRTM1):c.1019T>C (p.Phe340Ser)	CACNA2D3, LRTM1 (F264S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262830	NM_018398.3(CACNA2D3):c.2111T>C (p.Ile704Thr)	CACNA2D3, CACNA2D3-AS1 (I704T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136466	NM_018398.3(CACNA2D3):c.2200C>G (p.Leu734Val)	CACNA2D3, CACNA2D3-AS1 (L734V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121242	NM_020678.4(LRTM1):c.917C>T (p.Ala306Val)	CACNA2D3, LRTM1 (A306V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121241	NM_020678.4(LRTM1):c.859G>T (p.Ala287Ser)	CACNA2D3, LRTM1 (A211S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121240	NM_020678.4(LRTM1):c.836C>T (p.Pro279Leu)	CACNA2D3, LRTM1 (P279L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121239	NM_020678.4(LRTM1):c.788C>T (p.Ala263Val)	CACNA2D3, LRTM1 (A187V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121238	NM_020678.4(LRTM1):c.625A>G (p.Ile209Val)	CACNA2D3, LRTM1 (I209V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121237	NM_020678.4(LRTM1):c.488G>A (p.Arg163Gln)	CACNA2D3, LRTM1 (R87Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 disorder	GLikely benign
Select item 3053454	NM_018398.3(CACNA2D3):c.2091C>T (p.Asp697=)	CACNA2D3, CACNA2D3-AS1	Single nucleotide variant (synonymous variant)	CACNA2D3-related disorder	GLikely benign
Select item 3038777	NM_018398.3(CACNA2D3):c.2426A>G (p.Glu809Gly)	CACNA2D3, CACNA2D3-AS1 (E809G)	Single nucleotide variant (missense variant)	CACNA2D3-related disorder	GLikely benign
Select item 3037580	NM_018398.3(CACNA2D3):c.1783-10_1783-9del	CACNA2D3, CACNA2D3-AS1	Deletion (intron variant)	CACNA2D3-related disorder	GBenign
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 disorder	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 2635505	NM_018398.3(CACNA2D3):c.1870C>A (p.His624Asn)	CACNA2D3, CACNA2D3-AS1 (H624N)	Single nucleotide variant (missense variant)	CACNA2D3-related disorder	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 disorder	GUncertain significance
Select item 2624282	NM_020678.4(LRTM1):c.482T>C (p.Leu161Pro)	CACNA2D3, LRTM1 (L161P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 2591971	NM_020678.4(LRTM1):c.448A>G (p.Ile150Val)	CACNA2D3, LRTM1 (I150V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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)	not specified	GUncertain significance
Select item 2527206	NM_018398.3(CACNA2D3):c.2422G>A (p.Asp808Asn)	CACNA2D3, CACNA2D3-AS1 (D808N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514172	NM_020678.4(LRTM1):c.379C>T (p.Leu127Phe)	CACNA2D3, LRTM1 (L51F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510799	NM_020678.4(LRTM1):c.183G>C (p.Gln61His)	CACNA2D3, LRTM1 (Q61H)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2488758	NM_018398.3(CACNA2D3):c.2023C>G (p.Leu675Val)	CACNA2D3, CACNA2D3-AS1 (L675V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488623	NM_018398.3(CACNA2D3):c.2083C>T (p.Leu695Phe)	CACNA2D3, CACNA2D3-AS1 (L695F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475747	NM_018398.3(CACNA2D3):c.2218T>C (p.Phe740Leu)	CACNA2D3, CACNA2D3-AS1 (F740L)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2407053	NM_018398.3(CACNA2D3):c.2099T>C (p.Val700Ala)	CACNA2D3, CACNA2D3-AS1 (V700A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374178	NM_020678.4(LRTM1):c.583C>G (p.Leu195Val)	CACNA2D3, LRTM1 (L119V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304462	NM_018398.3(CACNA2D3):c.2233C>G (p.Gln745Glu)	CACNA2D3, CACNA2D3-AS1 (Q745E)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2274252	NM_018398.3(CACNA2D3):c.2185G>A (p.Gly729Ser)	CACNA2D3, CACNA2D3-AS1 (G729S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267899	NM_018398.3(CACNA2D3):c.2087T>G (p.Phe696Cys)	CACNA2D3, CACNA2D3-AS1 (F696C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266738	NM_020678.4(LRTM1):c.491C>T (p.Ala164Val)	CACNA2D3, LRTM1 (A164V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259441	NM_018398.3(CACNA2D3):c.2216T>C (p.Leu739Pro)	CACNA2D3, CACNA2D3-AS1 (L739P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203843	NM_020678.4(LRTM1):c.872T>C (p.Ile291Thr)	CACNA2D3, LRTM1 (I215T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808382	GRCh37/hg19 3p21.1-14.3(chr3:54380659-54436878)x1	CACNA2D3	Copy number loss	not provided	GUncertain significance
Select item 1340126	GRCh37/hg19 3p21.1-14.3(chr3:54370192-54625132)x1	CACNA2D3	Copy number loss	not provided	GUncertain significance
Select item 980507	GRCh37/hg19 3p14.3(chr3:54975766-55100284)x1	CACNA2D3	Copy number loss	not provided	GUncertain significance
Select item 814446	GRCh37/hg19 3p14.3(chr3:54707598-54828067)x1	CACNA2D3	Copy number loss	not provided	GUncertain significance
Select item 791931	NM_020678.4(LRTM1):c.797G>T (p.Arg266Leu)	LRTM1, CACNA2D3 (R266L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 773444	NM_018398.3(CACNA2D3):c.2195C>T (p.Thr732Met)	CACNA2D3, CACNA2D3-AS1 (T732M)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 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 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 687777	GRCh37/hg19 3p21.1-14.3(chr3:54298574-54491378)x1	CACNA2D3	Copy number loss	not provided	GUncertain significance
Select item 687508	GRCh37/hg19 3p14.3(chr3:54977796-55276518)x3	CACNA2D3	Copy number gain	not provided	GUncertain significance
Select item 686710	GRCh37/hg19 3p21.1-14.3(chr3:54331583-54541297)x1	CACNA2D3	Copy number loss	not provided	GUncertain significance
Select item 686500	GRCh37/hg19 3p14.3(chr3:54976130-55287279)x3	CACNA2D3	Copy number gain	not provided	GUncertain significance
Select item 685201	GRCh37/hg19 3p14.3(chr3:54976130-55276518)x3	CACNA2D3	Copy number gain	not provided	GUncertain significance
Select item 562770	GRCh37/hg19 3p14.3(chr3:54793252-54931307)x1	CACNA2D3	Copy number loss	not provided	GUncertain significance
Select item 153997	GRCh38/hg38 3p14.3(chr3:54728779-54780521)x1	CACNA2D3	Copy number loss	See cases	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 148328	GRCh38/hg38 3p21.1(chr3:54216287-54346411)x1	CACNA2D3	Copy number loss	See cases	GLikely benign
Select item 148212	GRCh38/hg38 3p21.1-14.3(chr3:54331657-54477137)x1	CACNA2D3	Copy number loss	See cases	GLikely benign

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Links from Gene

Items: 64