ClinVar for Gene (Select 57408) - ClinVar

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Links from Gene

Items: 38

	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 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 3062680	GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1	ABHD14A, ABHD14B +86 more	Copy number loss	not specified	GPathogenic
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 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 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 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 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 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 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 814445	GRCh37/hg19 3p21.1-14.3(chr3:54364992-55064740)x1	CACNA2D3, ESRG +1 more	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 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 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253632	GRCh37/hg19 3p21.2-14.2(chr3:52086599-59689209)x1	ABHD6, ACOX2 +66 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 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic
Select item 57386	GRCh38/hg38 3p21.1-14.1(chr3:54045018-66060461)x1	ABHD6, ACOX2 +218 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 38