Related gene-specific medical variations for Gene (Select 1496) - ClinVar

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

Links from Gene

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3239141	NM_178839.5(LRRTM1):c.1207G>T (p.Asp403Tyr)	CTNNA2, LRRTM1 (D403Y)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3121213	NM_178839.5(LRRTM1):c.943C>G (p.Leu315Val)	CTNNA2, LRRTM1 (L315V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121212	NM_178839.5(LRRTM1):c.865T>C (p.Ser289Pro)	CTNNA2, LRRTM1 (S289P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121211	NM_178839.5(LRRTM1):c.80C>T (p.Ala27Val)	CTNNA2, LRRTM1 (A27V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121210	NM_178839.5(LRRTM1):c.740T>C (p.Ile247Thr)	CTNNA2, LRRTM1 (I247T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121209	NM_178839.5(LRRTM1):c.52T>C (p.Ser18Pro)	CTNNA2, LRRTM1 (S18P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121208	NM_178839.5(LRRTM1):c.1342G>C (p.Val448Leu)	CTNNA2, LRRTM1 (V448L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121207	NM_178839.5(LRRTM1):c.1272G>C (p.Gln424His)	CTNNA2, LRRTM1 (Q424H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121205	NM_178839.5(LRRTM1):c.1061T>A (p.Leu354Gln)	CTNNA2, LRRTM1 (L354Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121204	NM_178839.5(LRRTM1):c.1022A>G (p.Gln341Arg)	CTNNA2, LRRTM1 (Q341R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684620	GRCh37/hg19 2p12(chr2:79773859-80062710)x1	CTNNA2	Copy number loss	not provided	GUncertain significance
Select item 2672821	NM_178839.5(LRRTM1):c.619G>A (p.Gly207Ser)	LRRTM1, CTNNA2 (G207S)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2651085	NM_178839.5(LRRTM1):c.1290G>A (p.Thr430=)	CTNNA2, LRRTM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2591000	NM_178839.5(LRRTM1):c.500A>G (p.His167Arg)	CTNNA2, LRRTM1 (H167R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2582433	NM_001282597.3(CTNNA2):c.718del (p.Arg240fs)	CTNNA2 (R240fs +1 more)	Deletion (frameshift variant)	Cortical dysplasia, complex, with other brain malformations 9	GLikely pathogenic
Select item 2569377	NM_178839.5(LRRTM1):c.385C>G (p.Pro129Ala)	CTNNA2, LRRTM1 (P129A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2557544	NM_178839.5(LRRTM1):c.1048G>A (p.Gly350Ser)	CTNNA2, LRRTM1 (G350S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537741	NM_178839.5(LRRTM1):c.1376A>G (p.Gln459Arg)	CTNNA2, LRRTM1 (Q459R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529752	NM_178839.5(LRRTM1):c.1092G>C (p.Glu364Asp)	CTNNA2, LRRTM1 (E364D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524255	NM_178839.5(LRRTM1):c.1199G>C (p.Gly400Ala)	CTNNA2, LRRTM1 (G400A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513653	NM_178839.5(LRRTM1):c.1225G>A (p.Ala409Thr)	CTNNA2, LRRTM1 (A409T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487571	NM_178839.5(LRRTM1):c.794G>A (p.Gly265Asp)	CTNNA2, LRRTM1 (G265D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458560	NM_178839.5(LRRTM1):c.1249G>A (p.Glu417Lys)	CTNNA2, LRRTM1 (E417K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393822	NM_178839.5(LRRTM1):c.1300G>A (p.Ala434Thr)	CTNNA2, LRRTM1 (A434T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353589	NM_178839.5(LRRTM1):c.1183G>A (p.Ala395Thr)	CTNNA2, LRRTM1 (A395T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346378	NM_178839.5(LRRTM1):c.1357T>C (p.Phe453Leu)	CTNNA2, LRRTM1 (F453L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321328	NM_178839.5(LRRTM1):c.1402C>T (p.Arg468Cys)	CTNNA2, LRRTM1 (R468C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309658	NM_178839.5(LRRTM1):c.1156C>A (p.Pro386Thr)	CTNNA2, LRRTM1 (P386T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283071	NM_178839.5(LRRTM1):c.977C>T (p.Ala326Val)	CTNNA2, LRRTM1 (A326V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282736	NM_178839.5(LRRTM1):c.1210G>C (p.Gly404Arg)	CTNNA2, LRRTM1 (G404R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237507	NM_178839.5(LRRTM1):c.233C>T (p.Ser78Leu)	CTNNA2, LRRTM1 (S78L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233075	NM_178839.5(LRRTM1):c.1104G>C (p.Glu368Asp)	CTNNA2, LRRTM1 (E368D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205683	NM_178839.5(LRRTM1):c.1003C>T (p.Arg335Cys)	CTNNA2, LRRTM1 (R335C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1807862	GRCh37/hg19 2p12(chr2:80732592-80805828)x1	CTNNA2	Copy number loss	not provided	GUncertain significance
Select item 814277	GRCh37/hg19 2p12(chr2:80105358-80209568)x1	CTNNA2	Copy number loss	not provided	GUncertain significance
Select item 814276	GRCh37/hg19 2p12(chr2:79491432-79805562)x3	CTNNA2	Copy number gain	not provided	GUncertain significance
Select item 778820	NM_178839.5(LRRTM1):c.1012G>A (p.Gly338Ser)	CTNNA2, LRRTM1 (G338S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 687882	GRCh37/hg19 2p12(chr2:79879079-80105359)x1	CTNNA2	Copy number loss	not provided	GUncertain significance
Select item 685966	GRCh37/hg19 2p12(chr2:79568620-80010494)x3	CTNNA2	Copy number gain	not provided	GUncertain significance
Select item 685187	GRCh37/hg19 2p12(chr2:80785797-81780122)x3	CTNNA2	Copy number gain	not provided	GUncertain significance
Select item 684924	GRCh37/hg19 2p12(chr2:79424860-79894319)x3	CTNNA2	Copy number gain	not provided	GUncertain significance
Select item 394481	GRCh37/hg19 2p12(chr2:80636890-80989799)x3	CTNNA2	Copy number gain	See cases	GLikely benign
Select item 154147	GRCh38/hg38 2p12(chr2:79867591-80145043)x1	CTNNA2	Copy number loss	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 43