LILRA1[gene] - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147949	GRCh37/hg19 19q13.42(chr19:55028722-55683018)x3	FCAR, KIR2DL1 +19 more	Copy number gain	See cases	GUncertain significance
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC130065082, LOC130065083 +806 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +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	SSC5D, SYT5 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	TMC4, TMEM150B +537 more	Copy number gain	See cases	GPathogenic
Select item 3290670	NM_006863.4(LILRA1):c.17C>A (p.Thr6Lys)	LILRA1 (T6K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508561	NM_006863.4(LILRA1):c.28T>G (p.Cys10Gly)	LILRA1 (C10G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482005	NM_006863.4(LILRA1):c.47G>A (p.Gly16Asp)	LILRA1 (G16D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321579	NM_006863.4(LILRA1):c.56C>T (p.Thr19Ile)	LILRA1 (T19I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267215	NM_006863.4(LILRA1):c.170A>G (p.Glu57Gly)	LILRA1 (E57G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290663	NM_006863.4(LILRA1):c.214C>T (p.Arg72Trp)	LILRA1 (R72W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211807	NM_006863.4(LILRA1):c.224A>G (p.Gln75Arg)	LILRA1 (Q75R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336178	NM_006863.4(LILRA1):c.250C>T (p.Pro84Ser)	LILRA1 (P84S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2310548	NM_006863.4(LILRA1):c.307C>T (p.His103Tyr)	LILRA1 (H103Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118730	NM_006863.4(LILRA1):c.338C>T (p.Pro113Leu)	LILRA1 (P113L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208839	NM_006863.4(LILRA1):c.388C>A (p.Leu130Ile)	LILRA1 (L130I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251836	NM_006863.4(LILRA1):c.421G>A (p.Val141Met)	LILRA1 (V141M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556080	NM_006863.4(LILRA1):c.515C>T (p.Pro172Leu)	LILRA1 (P172L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278613	NM_006863.4(LILRA1):c.520A>G (p.Thr174Ala)	LILRA1 (T174A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118731	NM_006863.4(LILRA1):c.530G>T (p.Trp177Leu)	LILRA1 (W177L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312947	NM_006863.4(LILRA1):c.610T>C (p.Ser204Pro)	LILRA1 (S204P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118732	NM_006863.4(LILRA1):c.616C>T (p.His206Tyr)	LILRA1 (H206Y)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2589608	NM_006863.4(LILRA1):c.671A>G (p.Lys224Arg)	LILRA1 (K224R)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3290667	NM_006863.4(LILRA1):c.722G>T (p.Ser241Ile)	LILRA1 (S241I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2277960	NM_006863.4(LILRA1):c.749T>C (p.Val250Ala)	LILRA1 (V250A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2274885	NM_006863.4(LILRA1):c.887G>C (p.Arg296Thr)	LILRA1 (R296T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2378831	NM_006863.4(LILRA1):c.888A>T (p.Arg296Ser)	LILRA1 (R296S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2366123	NM_006863.4(LILRA1):c.893C>A (p.Ser298Tyr)	LILRA1 (S298Y)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2338203	NM_006863.4(LILRA1):c.895G>T (p.Gly299Cys)	LILRA1 (G299C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3290669	NM_006863.4(LILRA1):c.911C>T (p.Ser304Phe)	LILRA1 (S304F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3290664	NM_006863.4(LILRA1):c.917A>C (p.Glu306Ala)	LILRA1 (E306A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2240118	NM_006863.4(LILRA1):c.923C>T (p.Ser308Leu)	LILRA1 (S308L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3118734	NM_006863.4(LILRA1):c.926C>G (p.Ala309Gly)	LILRA1 (A309G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2334300	NM_006863.4(LILRA1):c.936C>A (p.Asp312Glu)	LILRA1 (D312E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3290672	NM_006863.4(LILRA1):c.955G>T (p.Ala319Ser)	LILRA1 (A319S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2393859	NM_006863.4(LILRA1):c.967C>T (p.Arg323Cys)	LILRA1 (R323C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2593602	NM_006863.4(LILRA1):c.986C>G (p.Ser329Trp)	LILRA1 (S329W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3118735	NM_006863.4(LILRA1):c.991C>T (p.His331Tyr)	LILRA1 (H331Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3290675	NM_006863.4(LILRA1):c.993T>G (p.His331Gln)	LILRA1 (H331Q)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3290666	NM_006863.4(LILRA1):c.1006G>A (p.Val336Met)	LILRA1 (V336M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3118725	NM_006863.4(LILRA1):c.1007T>C (p.Val336Ala)	LILRA1 (V336A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2304035	NM_006863.4(LILRA1):c.1049G>C (p.Gly350Ala)	LILRA1 (G350A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2213609	NM_006863.4(LILRA1):c.1052C>T (p.Pro351Leu)	LILRA1 (P351L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3290671	NM_006863.4(LILRA1):c.1082G>A (p.Gly361Glu)	LILRA1 (G361E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3290662	NM_006863.4(LILRA1):c.1120G>A (p.Glu374Lys)	LILRA1 (E374K)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2370634	NM_006863.4(LILRA1):c.1124A>G (p.Tyr375Cys)	LILRA1 (Y375C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3290665	NM_006863.4(LILRA1):c.1174T>G (p.Ser392Ala)	LILRA1 (S392A)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2373217	NM_006863.4(LILRA1):c.1175C>T (p.Ser392Leu)	LILRA1 (S392L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3118726	NM_006863.4(LILRA1):c.1183T>C (p.Tyr395His)	LILRA1 (Y395H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2589192	NM_006863.4(LILRA1):c.1195G>A (p.Gly399Ser)	LILRA1 (G399S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2569805	NM_006863.4(LILRA1):c.1202T>G (p.Leu401Arg)	LILRA1 (L401R)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3290673	NM_006863.4(LILRA1):c.1205G>A (p.Ser402Asn)	LILRA1 (S402N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3290674	NM_006863.4(LILRA1):c.1210A>G (p.Asn404Asp)	LILRA1 (N404D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2556079	NM_006863.4(LILRA1):c.1214C>T (p.Pro405Leu)	LILRA1 (P405L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3118729	NM_006863.4(LILRA1):c.1391G>A (p.Arg464His)	LILRA1 (R464H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276095	NM_006863.4(LILRA1):c.1433T>C (p.Leu478Pro)	LILRA1 (L478P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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	CACNG6, CACNG7 +51 more	Duplication	not provided	GUncertain significance
Select item 1340513	GRCh37/hg19 19q13.42(chr19:55029433-55157759)x1	LILRA1, LILRA2 +1 more	Copy number loss	not provided	GLikely benign
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	PPP1R15A, PPP2R1A +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)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394539	GRCh37/hg19 19q13.42(chr19:55028722-55148430)x1	LILRA1, LILRA2 +1 more	Copy number loss	See cases	GBenign
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: 77