LRRTM1[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	C2orf74, CCT4 +768 more	Copy number gain	See cases	GPathogenic
Select item 145403	GRCh38/hg38 2p12-11.2(chr2:77025216-90282666)x3	ATOH8, C2orf68 +302 more	Copy number gain	See cases	GPathogenic
Select item 154950	GRCh38/hg38 2p12(chr2:79252886-81305516)x1	CTNNA2, CTNNA2-AS1 +9 more	Copy number loss	See cases	GUncertain significance
Select item 146134	GRCh38/hg38 2p12(chr2:79680727-80974466)x3	CTNNA2, LOC129388879 +6 more	Copy number gain	See cases	GUncertain significance
Select item 150601	GRCh38/hg38 2p12(chr2:79983983-80544440)x3	CTNNA2, LOC129388879 +3 more	Copy number gain	See cases	GUncertain significance
Select item 2321328	NM_178839.5(LRRTM1):c.1402C>T (p.Arg468Cys)	LRRTM1, CTNNA2 (R468C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2537741	NM_178839.5(LRRTM1):c.1376A>G (p.Gln459Arg)	LRRTM1, CTNNA2 (Q459R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2346378	NM_178839.5(LRRTM1):c.1357T>C (p.Phe453Leu)	LRRTM1, CTNNA2 (F453L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2393822	NM_178839.5(LRRTM1):c.1300G>A (p.Ala434Thr)	CTNNA2, LRRTM1 (A434T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2458560	NM_178839.5(LRRTM1):c.1249G>A (p.Glu417Lys)	CTNNA2, LRRTM1 (E417K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2513653	NM_178839.5(LRRTM1):c.1225G>A (p.Ala409Thr)	CTNNA2, LRRTM1 (A409T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2282736	NM_178839.5(LRRTM1):c.1210G>C (p.Gly404Arg)	LRRTM1, CTNNA2 (G404R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2524255	NM_178839.5(LRRTM1):c.1199G>C (p.Gly400Ala)	CTNNA2, LRRTM1 (G400A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2353589	NM_178839.5(LRRTM1):c.1183G>A (p.Ala395Thr)	LRRTM1, CTNNA2 (A395T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2309658	NM_178839.5(LRRTM1):c.1156C>A (p.Pro386Thr)	CTNNA2, LRRTM1 (P386T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2233075	NM_178839.5(LRRTM1):c.1104G>C (p.Glu368Asp)	CTNNA2, LRRTM1 (E368D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2529752	NM_178839.5(LRRTM1):c.1092G>C (p.Glu364Asp)	CTNNA2, LRRTM1 (E364D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2557544	NM_178839.5(LRRTM1):c.1048G>A (p.Gly350Ser)	CTNNA2, LRRTM1 (G350S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2205683	NM_178839.5(LRRTM1):c.1003C>T (p.Arg335Cys)	LRRTM1, CTNNA2 (R335C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2283071	NM_178839.5(LRRTM1):c.977C>T (p.Ala326Val)	LRRTM1, CTNNA2 (A326V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2487571	NM_178839.5(LRRTM1):c.794G>A (p.Gly265Asp)	CTNNA2, LRRTM1 (G265D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2672821	NM_178839.5(LRRTM1):c.619G>A (p.Gly207Ser)	LRRTM1, CTNNA2 (G207S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2591000	NM_178839.5(LRRTM1):c.500A>G (p.His167Arg)	CTNNA2, LRRTM1 (H167R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2569377	NM_178839.5(LRRTM1):c.385C>G (p.Pro129Ala)	CTNNA2, LRRTM1 (P129A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2237507	NM_178839.5(LRRTM1):c.233C>T (p.Ser78Leu)	CTNNA2, LRRTM1 (S78L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2577041	NC_000002.11:g.(?_79740059)_(80875994_?)del	CTNNA2, LRRTM1	Deletion	Cortical dysplasia, complex, with other brain malformations 9	GPathogenic
Select item 1807933	GRCh37/hg19 2p12(chr2:80338539-80777211)x1	CTNNA2, LRRTM1	Copy number loss	not provided	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1341180	GRCh37/hg19 2p12(chr2:79888287-82209482)x3	CTNNA2, LRRTM1	Copy number gain	not provided	GUncertain significance
Select item 980973	GRCh37/hg19 2p12(chr2:76035305-81220405)x1	CTNNA2, LRRTM1 +5 more	Copy number loss	not provided	GUncertain significance
Select item 689090	GRCh37/hg19 2p12(chr2:78114851-82104559)x1	CTNNA2, LRRTM1 +4 more	Copy number loss	not provided	GUncertain significance
Select item 687099	GRCh37/hg19 2p12(chr2:76157543-82375906)x1	CTNNA2, LRRTM1 +5 more	Copy number loss	not provided	GUncertain significance
Select item 685879	GRCh37/hg19 2p12-11.2(chr2:77907114-87330965)x1	ATOH8, C2orf68 +41 more	Copy number loss	not provided	GPathogenic
Select item 685860	GRCh37/hg19 2p13.1-12(chr2:74972080-83043893)x1	CTNNA2, EVA1A +11 more	Copy number loss	not provided	GPathogenic
Select item 685703	GRCh37/hg19 2p12(chr2:79889710-81392136)x3	CTNNA2, LRRTM1	Copy number gain	not provided	GUncertain significance
Select item 562678	GRCh37/hg19 2p13.1-11.2(chr2:74527522-89125488)x1	ATOH8, AUP1 +78 more	Copy number loss	not provided	GPathogenic
Select item 560065	Single allele	AAK1, ACTG2 +127 more	Duplication	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 493591	GRCh37/hg19 2p12(chr2:80247964-81740468)x1	CTNNA2, LRRTM1	Copy number loss	not provided	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic
Select item 442633	GRCh37/hg19 2p13.1-11.2(chr2:74365484-89129064)x1	REEP1, REG1A +81 more	Copy number loss	See cases	GPathogenic

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Items: 46