LBX2[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 155389	GRCh38/hg38 2p13.1-12(chr2:74375779-75517520)x1	AUP1, C2orf81 +86 more	Copy number loss	See cases	GLikely pathogenic
Select item 147468	GRCh38/hg38 2p13.1-12(chr2:74432069-75181627)x3	AUP1, CCDC142 +66 more	Copy number gain	See cases	GUncertain significance
Select item 2341424	NM_001282430.2(LBX2):c.584A>C (p.Gln195Pro)	LBX2, LOC129934135 (Q191P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461461	NM_001282430.2(LBX2):c.542C>T (p.Ala181Val)	LBX2 (A177V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250814	NM_001282430.2(LBX2):c.535G>A (p.Gly179Ser)	LBX2 (G175S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290227	NM_001282430.2(LBX2):c.478G>A (p.Glu160Lys)	LBX2 (E156K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344896	NM_001282430.2(LBX2):c.476C>T (p.Pro159Leu)	LBX2 (P155L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 754328	NM_001282430.2(LBX2):c.387G>C (p.Val129=)	LBX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2570442	NM_001282430.2(LBX2):c.364C>T (p.Leu122Phe)	LBX2 (L122F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118008	NM_001282430.2(LBX2):c.260A>G (p.Lys87Arg)	LBX2 (K87R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118007	NM_001282430.2(LBX2):c.238C>T (p.Pro80Ser)	LBX2 (P80S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354645	NM_001282430.2(LBX2):c.214G>C (p.Gly72Arg)	LBX2 (G68R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770128	NM_001282430.2(LBX2):c.51A>T (p.Ala17=)	LBX2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2354897	NM_001009812.2(LBX2):c.43G>C (p.Gly15Arg)	LBX2, LBX2-AS1 (G15R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3062659	GRCh37/hg19 2p13.3-12(chr2:71076472-76368354)x1	ACTG2, ALMS1 +60 more	Copy number loss	not specified	GLikely pathogenic
Select item 2498869	GRCh37/hg19 2p13.1-12(chr2:73716761-75347894)x1	ACTG2, ALMS1 +35 more	Copy number loss	not provided	GUncertain significance
Select item 2427025	NC_000002.11:g.(?_69240632)_(74779761_?)dup	AAK1, ACTG2 +72 more	Duplication	not provided	GUncertain significance
Select item 2425561	NC_000002.11:g.(?_72359356)_(74779761_?)del	ACTG2, ALMS1 +42 more	Deletion	not provided	GPathogenic
Select item 2424629	NC_000002.11:g.(?_71004499)_(74779761_?)del	ACTG2, ALMS1 +55 more	Deletion	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GPathogenic
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 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 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442633	GRCh37/hg19 2p13.1-11.2(chr2:74365484-89129064)x1	SFTPB, SH2D6 +81 more	Copy number loss	See cases	GPathogenic

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Items: 29