ClinVar for Gene (Select 85474) - ClinVar

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

Links from Gene

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3062659	GRCh37/hg19 2p13.3-12(chr2:71076472-76368354)x1	ACTG2, ALMS1 +60 more	Copy number loss	not specified	GLikely pathogenic
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 2498869	GRCh37/hg19 2p13.1-12(chr2:73716761-75347894)x1	ACTG2, ALMS1 +35 more	Copy number loss	not provided	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 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 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 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 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 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 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 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 770128	NM_001282430.2(LBX2):c.51A>T (p.Ala17=)	LBX2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 754328	NM_001282430.2(LBX2):c.387G>C (p.Val129=)	LBX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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
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 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
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 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	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

Links from Gene

Items: 29