LRTM1[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 38

	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 +218 more	Copy number loss	See cases	GPathogenic
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 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 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 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)	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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)	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 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 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 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 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 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 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 3062680	GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1	ABHD14A, ABHD14B +86 more	Copy number loss	not specified	GPathogenic
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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 38