LAIR2[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	ZBTB45, ZFP28 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC113939975, LOC116286194 +806 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	MIR498, MIR512-1 +782 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065070, LOC130065071 +761 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 153721	GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	A1BG, A1BG-AS1 +547 more	Copy number gain	See cases	GPathogenic
Select item 144762	GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3	A1BG, A1BG-AS1 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	LOC130065086, LOC130065087 +537 more	Copy number gain	See cases	GPathogenic
Select item 2318012	NM_002288.6(LAIR2):c.17C>T (p.Thr6Ile)	LAIR2 (T6I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347222	NM_002288.6(LAIR2):c.122C>T (p.Pro41Leu)	LAIR2 (P41L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2226407	NM_002288.6(LAIR2):c.154C>T (p.Pro52Ser)	LAIR2 (P52S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256504	NM_002288.6(LAIR2):c.280G>A (p.Gly94Arg)	LAIR2 (G94R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2568724	NM_002288.6(LAIR2):c.308A>G (p.Tyr103Cys)	LAIR2 (Y103C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338595	NM_002288.6(LAIR2):c.377G>A (p.Gly126Asp)	LAIR2 (G126D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2218670	NM_002288.6(LAIR2):c.442G>A (p.Gly148Arg)	LAIR2 (G148R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 1443808	NC_000019.9:g.(?_54297303)_(55678016_?)dup	TSEN34, TTYH1 +51 more	Duplication	not provided	GUncertain significance
Select item 980772	GRCh37/hg19 19q13.42-13.43(chr19:54334195-56434037)x3	TMC4, TMEM150B +87 more	Copy number gain	not provided	GUncertain significance
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	FLT3LG, FPR1 +308 more	Copy number gain	not provided	GPathogenic
Select item 816094	GRCh37/hg19 19q13.42(chr19:55017885-55157759)x1	LILRA1, LAIR2 +2 more	Copy number loss	not provided	GLikely benign
Select item 816093	GRCh37/hg19 19q13.42(chr19:54701333-55536206)x3	CDC42EP5, FCAR +28 more	Copy number gain	not provided	GUncertain significance
Select item 816092	GRCh37/hg19 19q13.42(chr19:54474844-55181741)x3	CACNG6, CACNG8 +29 more	Copy number gain	not provided	GUncertain significance
Select item 564606	GRCh37/hg19 19q13.42-13.43(chr19:54196216-58759679)x3	ZNF548, ZNF549 +157 more	Copy number gain	not provided	GPathogenic
Select item 564602	GRCh37/hg19 19q13.42(chr19:53867570-55833460)x3	BRSK1, CACNG6 +68 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic
Select item 221404	GRCh37/hg19 19q13.42(chr19:54710237-55648526)x1	LILRB3, CDC42EP5 +32 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221353	chr19:54754752-55624113 complex variant	FCAR, EPS8L1 +28 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 30